Mutagenetix > Incidental Mutation

Incidental Mutation 'R5066:Syne2'

388340

Institutional Source

Beutler Lab

Gene Symbol

Syne2

Ensembl Gene

ENSMUSG00000063450

Gene Name

spectrin repeat containing, nuclear envelope 2

Synonyms

syne-2, D12Ertd777e, nesprin-2, 6820443O06Rik, Nesp2g

MMRRC Submission

042656-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.305) question?

Stock #

R5066 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75818134-76110926 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75966551 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 2840 (T2840A)

Ref Sequence

ENSEMBL: ENSMUSP00000119120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044217] [ENSMUST00000143031]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044217
AA Change: T2839A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000047697
Gene: ENSMUSG00000063450
AA Change: T2839A

Domain	Start	End	E-Value	Type
CH	33	134	7.97e-19	SMART
low complexity region	151	175	N/A	INTRINSIC
CH	185	283	1.34e-20	SMART
low complexity region	494	505	N/A	INTRINSIC
coiled coil region	541	572	N/A	INTRINSIC
low complexity region	665	674	N/A	INTRINSIC
coiled coil region	844	869	N/A	INTRINSIC
coiled coil region	936	969	N/A	INTRINSIC
coiled coil region	1006	1032	N/A	INTRINSIC
SPEC	1427	1525	4.96e0	SMART
SPEC	1528	1632	2.48e-1	SMART
coiled coil region	1660	1699	N/A	INTRINSIC
SPEC	2034	2131	1.83e0	SMART
coiled coil region	2173	2194	N/A	INTRINSIC
low complexity region	2295	2307	N/A	INTRINSIC
coiled coil region	2316	2348	N/A	INTRINSIC
SPEC	2720	2820	1.44e-5	SMART
coiled coil region	2905	2934	N/A	INTRINSIC
coiled coil region	2962	2989	N/A	INTRINSIC
coiled coil region	3108	3136	N/A	INTRINSIC
low complexity region	3333	3350	N/A	INTRINSIC
low complexity region	3514	3523	N/A	INTRINSIC
low complexity region	3666	3676	N/A	INTRINSIC
coiled coil region	3678	3708	N/A	INTRINSIC
coiled coil region	3761	3788	N/A	INTRINSIC
coiled coil region	3846	3903	N/A	INTRINSIC
coiled coil region	4015	4067	N/A	INTRINSIC
low complexity region	4102	4115	N/A	INTRINSIC
coiled coil region	4483	4511	N/A	INTRINSIC
low complexity region	4557	4569	N/A	INTRINSIC
coiled coil region	4655	4688	N/A	INTRINSIC
low complexity region	4749	4763	N/A	INTRINSIC
SPEC	4827	4926	5.25e-1	SMART
SPEC	4933	5038	2.64e-4	SMART
SPEC	5048	5152	1.47e-2	SMART
SPEC	5159	5259	4.29e0	SMART
SPEC	5263	5371	4.47e0	SMART
low complexity region	5373	5393	N/A	INTRINSIC
SPEC	5583	5681	5.7e-1	SMART
Blast:SPEC	5690	5793	2e-53	BLAST
SPEC	5800	5900	2.11e0	SMART
SPEC	5907	6005	6.91e-8	SMART
SPEC	6012	6119	4.45e-11	SMART
SPEC	6126	6228	6.39e-12	SMART
SPEC	6235	6335	7.75e-11	SMART
SPEC	6539	6642	5.53e-7	SMART
SPEC	6649	6753	5.12e-2	SMART
KASH	6817	6874	8.17e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143031
AA Change: T2840A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000119120
Gene: ENSMUSG00000063450
AA Change: T2840A

Domain	Start	End	E-Value	Type
CH	33	134	7.97e-19	SMART
low complexity region	151	175	N/A	INTRINSIC
CH	185	283	1.34e-20	SMART
low complexity region	494	505	N/A	INTRINSIC
coiled coil region	541	572	N/A	INTRINSIC
coiled coil region	845	870	N/A	INTRINSIC
coiled coil region	937	970	N/A	INTRINSIC
coiled coil region	1007	1033	N/A	INTRINSIC
SPEC	1428	1526	4.96e0	SMART
SPEC	1529	1633	2.48e-1	SMART
coiled coil region	1661	1700	N/A	INTRINSIC
SPEC	2035	2132	1.83e0	SMART
coiled coil region	2174	2195	N/A	INTRINSIC
low complexity region	2296	2308	N/A	INTRINSIC
coiled coil region	2317	2349	N/A	INTRINSIC
SPEC	2721	2821	1.44e-5	SMART
coiled coil region	2906	2935	N/A	INTRINSIC
coiled coil region	2963	2990	N/A	INTRINSIC
coiled coil region	3109	3137	N/A	INTRINSIC
low complexity region	3334	3351	N/A	INTRINSIC
low complexity region	3515	3524	N/A	INTRINSIC
low complexity region	3667	3677	N/A	INTRINSIC
coiled coil region	3679	3709	N/A	INTRINSIC
coiled coil region	3762	3789	N/A	INTRINSIC
coiled coil region	3847	3904	N/A	INTRINSIC
coiled coil region	4016	4068	N/A	INTRINSIC
low complexity region	4103	4116	N/A	INTRINSIC
coiled coil region	4484	4512	N/A	INTRINSIC
low complexity region	4558	4570	N/A	INTRINSIC
coiled coil region	4656	4689	N/A	INTRINSIC
low complexity region	4750	4764	N/A	INTRINSIC
SPEC	4828	4927	5.25e-1	SMART
SPEC	4934	5039	2.64e-4	SMART
SPEC	5049	5153	1.47e-2	SMART
SPEC	5160	5260	4.29e0	SMART
SPEC	5264	5372	4.47e0	SMART
low complexity region	5374	5394	N/A	INTRINSIC
SPEC	5584	5682	5.7e-1	SMART
Blast:SPEC	5691	5794	2e-53	BLAST
SPEC	5801	5901	2.11e0	SMART
SPEC	5908	6006	6.91e-8	SMART
SPEC	6013	6120	4.45e-11	SMART
SPEC	6127	6229	6.39e-12	SMART
SPEC	6236	6336	7.75e-11	SMART
SPEC	6540	6643	5.53e-7	SMART
SPEC	6650	6754	5.12e-2	SMART
KASH	6813	6870	8.17e-34	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (45/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygotes for one knock-out allele show normal myonuclear positioning of both synaptic and non-synaptic nuclei in skeletal muscle cells. Homozygotes for another knock-out allele exhibit a thickened epidermis and altered nuclear envelope architecture inprimary dermal fibroblasts and keratinocytes. Mice homozygous for a spontaneous mutation exhibit early retinal defects in photoreceptors, secondary Neurons, and muller glia. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted, knock-out(2) Gene trapped(3)

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	A	T	11: 70,616,591 (GRCm38)	Y154F	probably benign	Het
Abca5	A	T	11: 110,309,350 (GRCm38)		probably benign	Het
Agtpbp1	T	A	13: 59,474,550 (GRCm38)	D11V	probably damaging	Het
Aldh1a2	G	A	9: 71,281,700 (GRCm38)	A299T	possibly damaging	Het
Apc	T	A	18: 34,316,105 (GRCm38)	V1984D	probably damaging	Het
Asxl3	C	G	18: 22,525,299 (GRCm38)	A2122G	possibly damaging	Het
Atp13a2	G	A	4: 141,005,138 (GRCm38)	V905M	probably damaging	Het
Atp1a1	C	T	3: 101,582,104 (GRCm38)	G731R	probably damaging	Het
Atrn	T	C	2: 130,994,193 (GRCm38)	V1131A	possibly damaging	Het
BC049762	A	G	11: 51,254,424 (GRCm38)	F112S	probably damaging	Het
Bcl2l13	T	A	6: 120,887,021 (GRCm38)	V312E	possibly damaging	Het
Chic2	A	G	5: 75,027,156 (GRCm38)	V81A	possibly damaging	Het
Drg1	A	T	11: 3,259,353 (GRCm38)	I122N	possibly damaging	Het
Flt4	A	G	11: 49,634,163 (GRCm38)	N612S	possibly damaging	Het
Gm11639	A	G	11: 104,720,664 (GRCm38)	D444G	probably benign	Het
Hadhb	T	C	5: 30,164,096 (GRCm38)		probably benign	Het
Heg1	G	T	16: 33,738,671 (GRCm38)	R856S	probably benign	Het
Ice2	A	C	9: 69,408,291 (GRCm38)	N143T	probably benign	Het
Igkv8-21	G	A	6: 70,315,443 (GRCm38)	Q4*	probably null	Het
Lrfn2	T	C	17: 49,096,420 (GRCm38)	S524P	probably damaging	Het
Mndal	C	A	1: 173,875,663 (GRCm38)	A59S	probably damaging	Het
Mpp7	T	C	18: 7,513,002 (GRCm38)	E33G	possibly damaging	Het
Nedd4	T	A	9: 72,710,519 (GRCm38)	D187E	probably damaging	Het
Nfx1	A	G	4: 40,991,868 (GRCm38)	I519V	probably benign	Het
Olfr773	T	C	10: 129,186,564 (GRCm38)	I286V	possibly damaging	Het
Olfr9	G	A	10: 128,990,791 (GRCm38)	R293Q	probably damaging	Het
Padi1	T	C	4: 140,829,437 (GRCm38)	N153S	probably damaging	Het
Parp10	A	G	15: 76,240,946 (GRCm38)		probably benign	Het
Ppil2	A	G	16: 17,109,675 (GRCm38)	Y18H	probably benign	Het
Setbp1	A	T	18: 78,857,299 (GRCm38)	M1051K	probably damaging	Het
Slc2a7	T	A	4: 150,160,116 (GRCm38)	M347K	probably damaging	Het
Slc45a2	C	A	15: 11,012,607 (GRCm38)	T232K	probably benign	Het
Snd1	C	A	6: 28,888,240 (GRCm38)	N891K	probably damaging	Het
Spata13	T	C	14: 60,750,089 (GRCm38)	Y899H	possibly damaging	Het
Sult1c1	T	A	17: 53,973,998 (GRCm38)	I26F	probably damaging	Het
Sybu	A	G	15: 44,677,644 (GRCm38)	C341R	probably damaging	Het
Syk	T	A	13: 52,641,982 (GRCm38)	S538T	possibly damaging	Het
Thsd4	A	G	9: 59,976,332 (GRCm38)	C924R	probably damaging	Het
Tle1	A	G	4: 72,158,267 (GRCm38)	S175P	probably benign	Het
Tmbim4	C	T	10: 120,217,632 (GRCm38)	T112M	probably benign	Het
Tmprss11a	A	G	5: 86,420,000 (GRCm38)		probably null	Het
Tnc	C	A	4: 63,975,229 (GRCm38)	D1698Y	probably damaging	Het

Other mutations in Syne2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Syne2	APN	12	76,031,700 (GRCm38)	unclassified	probably benign
IGL00595:Syne2	APN	12	75,925,646 (GRCm38)	missense	possibly damaging	0.76
IGL00672:Syne2	APN	12	76,064,184 (GRCm38)	missense	probably damaging	1.00
IGL00781:Syne2	APN	12	76,024,062 (GRCm38)	missense	probably benign	0.00
IGL00823:Syne2	APN	12	75,989,242 (GRCm38)	missense	probably damaging	0.98
IGL01014:Syne2	APN	12	75,905,277 (GRCm38)	missense	probably damaging	0.99
IGL01074:Syne2	APN	12	76,031,587 (GRCm38)	nonsense	probably null
IGL01074:Syne2	APN	12	75,987,011 (GRCm38)	missense	probably benign	0.00
IGL01324:Syne2	APN	12	76,043,752 (GRCm38)	missense	probably damaging	1.00
IGL01325:Syne2	APN	12	75,926,514 (GRCm38)	missense	probably benign	0.01
IGL01331:Syne2	APN	12	75,929,253 (GRCm38)	splice site	probably benign
IGL01338:Syne2	APN	12	76,060,226 (GRCm38)	missense	possibly damaging	0.55
IGL01373:Syne2	APN	12	75,987,107 (GRCm38)	missense	probably damaging	1.00
IGL01446:Syne2	APN	12	76,041,375 (GRCm38)	missense	probably damaging	1.00
IGL01556:Syne2	APN	12	76,087,815 (GRCm38)	missense	probably damaging	1.00
IGL01585:Syne2	APN	12	75,949,060 (GRCm38)	critical splice acceptor site	probably null
IGL01629:Syne2	APN	12	76,004,603 (GRCm38)	missense	possibly damaging	0.49
IGL01686:Syne2	APN	12	75,909,336 (GRCm38)	missense	probably benign
IGL01935:Syne2	APN	12	75,925,313 (GRCm38)	missense	probably damaging	1.00
IGL01941:Syne2	APN	12	75,967,220 (GRCm38)	missense	probably benign	0.01
IGL01956:Syne2	APN	12	76,097,974 (GRCm38)	missense	probably damaging	1.00
IGL01967:Syne2	APN	12	75,941,303 (GRCm38)	missense	probably damaging	1.00
IGL01990:Syne2	APN	12	76,054,933 (GRCm38)	missense	probably damaging	1.00
IGL02000:Syne2	APN	12	76,015,645 (GRCm38)	missense	probably damaging	0.99
IGL02063:Syne2	APN	12	76,052,100 (GRCm38)	missense	probably damaging	0.96
IGL02069:Syne2	APN	12	75,927,412 (GRCm38)	missense	probably benign	0.13
IGL02120:Syne2	APN	12	75,946,706 (GRCm38)	missense	probably damaging	1.00
IGL02222:Syne2	APN	12	75,952,843 (GRCm38)	missense	probably damaging	0.96
IGL02223:Syne2	APN	12	76,108,305 (GRCm38)	missense	probably benign	0.00
IGL02321:Syne2	APN	12	75,918,999 (GRCm38)	missense	possibly damaging	0.58
IGL02488:Syne2	APN	12	75,965,738 (GRCm38)	missense	probably benign	0.24
IGL02491:Syne2	APN	12	76,072,179 (GRCm38)	missense	probably benign	0.10
IGL02525:Syne2	APN	12	76,101,003 (GRCm38)	missense	probably damaging	0.99
IGL02578:Syne2	APN	12	76,022,279 (GRCm38)	missense	possibly damaging	0.76
IGL02615:Syne2	APN	12	76,096,994 (GRCm38)	missense	probably damaging	1.00
IGL02702:Syne2	APN	12	76,097,924 (GRCm38)	missense	probably damaging	1.00
IGL02726:Syne2	APN	12	76,015,582 (GRCm38)	missense	probably damaging	0.99
IGL02795:Syne2	APN	12	75,966,549 (GRCm38)	missense	probably damaging	0.99
IGL02803:Syne2	APN	12	76,031,546 (GRCm38)	missense	probably damaging	1.00
IGL02814:Syne2	APN	12	75,945,376 (GRCm38)	missense	possibly damaging	0.64
IGL03013:Syne2	APN	12	75,929,337 (GRCm38)	missense	probably benign	0.00
IGL03131:Syne2	APN	12	76,057,490 (GRCm38)	missense	probably damaging	1.00
IGL03152:Syne2	APN	12	75,965,712 (GRCm38)	missense	probably benign	0.12
IGL03216:Syne2	APN	12	75,942,961 (GRCm38)	splice site	probably benign
IGL03228:Syne2	APN	12	75,979,912 (GRCm38)	missense	probably benign	0.01
IGL03259:Syne2	APN	12	75,989,079 (GRCm38)	missense	probably benign	0.05
IGL03374:Syne2	APN	12	76,074,586 (GRCm38)	missense	possibly damaging	0.66
IGL03375:Syne2	APN	12	75,925,435 (GRCm38)	missense	possibly damaging	0.57
3-1:Syne2	UTSW	12	75,930,632 (GRCm38)	missense	probably benign	0.02
B5639:Syne2	UTSW	12	75,929,790 (GRCm38)	missense	probably benign
K3955:Syne2	UTSW	12	75,930,665 (GRCm38)	missense	probably damaging	1.00
P0026:Syne2	UTSW	12	75,880,220 (GRCm38)	splice site	probably benign
PIT4514001:Syne2	UTSW	12	76,105,015 (GRCm38)	missense	probably damaging	0.99
R0089:Syne2	UTSW	12	75,963,876 (GRCm38)	missense	probably damaging	1.00
R0110:Syne2	UTSW	12	76,097,960 (GRCm38)	nonsense	probably null
R0113:Syne2	UTSW	12	76,033,722 (GRCm38)	missense	probably damaging	1.00
R0113:Syne2	UTSW	12	75,930,578 (GRCm38)	missense	probably damaging	1.00
R0141:Syne2	UTSW	12	75,941,298 (GRCm38)	missense	probably damaging	1.00
R0211:Syne2	UTSW	12	76,097,957 (GRCm38)	missense	probably damaging	1.00
R0219:Syne2	UTSW	12	76,042,004 (GRCm38)	missense	probably damaging	1.00
R0242:Syne2	UTSW	12	76,098,034 (GRCm38)	missense	probably damaging	1.00
R0242:Syne2	UTSW	12	76,098,034 (GRCm38)	missense	probably damaging	1.00
R0279:Syne2	UTSW	12	76,095,613 (GRCm38)	missense	probably damaging	1.00
R0319:Syne2	UTSW	12	76,064,162 (GRCm38)	missense	probably damaging	0.99
R0325:Syne2	UTSW	12	75,962,641 (GRCm38)	missense	probably benign	0.00
R0329:Syne2	UTSW	12	75,966,953 (GRCm38)	missense	probably benign
R0330:Syne2	UTSW	12	75,966,953 (GRCm38)	missense	probably benign
R0361:Syne2	UTSW	12	75,918,610 (GRCm38)	missense	probably benign	0.22
R0363:Syne2	UTSW	12	76,072,207 (GRCm38)	missense	probably damaging	0.98
R0367:Syne2	UTSW	12	75,880,177 (GRCm38)	missense	probably damaging	1.00
R0371:Syne2	UTSW	12	75,933,845 (GRCm38)	missense	probably damaging	1.00
R0374:Syne2	UTSW	12	75,921,226 (GRCm38)	nonsense	probably null
R0388:Syne2	UTSW	12	75,986,975 (GRCm38)	missense	probably benign	0.41
R0411:Syne2	UTSW	12	76,059,584 (GRCm38)	splice site	probably null
R0432:Syne2	UTSW	12	75,949,064 (GRCm38)	missense	probably damaging	0.99
R0469:Syne2	UTSW	12	75,854,149 (GRCm38)	critical splice donor site	probably null
R0492:Syne2	UTSW	12	75,982,063 (GRCm38)	critical splice donor site	probably null
R0496:Syne2	UTSW	12	76,038,940 (GRCm38)	missense	possibly damaging	0.80
R0504:Syne2	UTSW	12	76,033,591 (GRCm38)	splice site	probably benign
R0505:Syne2	UTSW	12	76,099,464 (GRCm38)	missense	probably damaging	1.00
R0510:Syne2	UTSW	12	75,854,149 (GRCm38)	critical splice donor site	probably null
R0518:Syne2	UTSW	12	76,108,862 (GRCm38)	critical splice acceptor site	probably null
R0539:Syne2	UTSW	12	76,024,121 (GRCm38)	missense	possibly damaging	0.69
R0552:Syne2	UTSW	12	75,931,004 (GRCm38)	missense	probably benign	0.00
R0557:Syne2	UTSW	12	75,929,301 (GRCm38)	missense	probably benign	0.04
R0567:Syne2	UTSW	12	75,890,230 (GRCm38)	missense	probably damaging	0.98
R0599:Syne2	UTSW	12	76,097,960 (GRCm38)	nonsense	probably null
R0602:Syne2	UTSW	12	76,097,960 (GRCm38)	nonsense	probably null
R0608:Syne2	UTSW	12	75,963,813 (GRCm38)	missense	probably damaging	1.00
R0614:Syne2	UTSW	12	75,912,353 (GRCm38)	splice site	probably null
R0636:Syne2	UTSW	12	75,930,983 (GRCm38)	missense	possibly damaging	0.75
R0647:Syne2	UTSW	12	75,888,203 (GRCm38)	missense	probably benign
R0654:Syne2	UTSW	12	76,097,960 (GRCm38)	nonsense	probably null
R0658:Syne2	UTSW	12	76,094,336 (GRCm38)	missense	probably damaging	1.00
R0666:Syne2	UTSW	12	75,923,013 (GRCm38)	missense	probably damaging	0.99
R0707:Syne2	UTSW	12	75,982,063 (GRCm38)	critical splice donor site	probably null
R0714:Syne2	UTSW	12	76,097,960 (GRCm38)	nonsense	probably null
R0841:Syne2	UTSW	12	76,074,435 (GRCm38)	splice site	probably benign
R0848:Syne2	UTSW	12	76,097,960 (GRCm38)	nonsense	probably null
R0848:Syne2	UTSW	12	76,097,959 (GRCm38)	frame shift	probably null
R1077:Syne2	UTSW	12	76,042,035 (GRCm38)	missense	possibly damaging	0.94
R1103:Syne2	UTSW	12	76,109,835 (GRCm38)	missense	probably benign	0.00
R1144:Syne2	UTSW	12	75,966,524 (GRCm38)	missense	probably benign	0.04
R1194:Syne2	UTSW	12	75,934,513 (GRCm38)	missense	probably damaging	1.00
R1247:Syne2	UTSW	12	75,967,490 (GRCm38)	missense	probably benign	0.39
R1276:Syne2	UTSW	12	75,941,189 (GRCm38)	critical splice acceptor site	probably null
R1343:Syne2	UTSW	12	76,033,643 (GRCm38)	missense	probably damaging	1.00
R1442:Syne2	UTSW	12	75,946,715 (GRCm38)	missense	probably damaging	1.00
R1448:Syne2	UTSW	12	76,052,178 (GRCm38)	missense	possibly damaging	0.56
R1448:Syne2	UTSW	12	76,020,325 (GRCm38)	splice site	probably null
R1522:Syne2	UTSW	12	76,103,783 (GRCm38)	missense	probably damaging	0.98
R1528:Syne2	UTSW	12	75,966,100 (GRCm38)	missense	probably benign	0.00
R1636:Syne2	UTSW	12	76,004,732 (GRCm38)	missense	probably benign	0.01
R1637:Syne2	UTSW	12	75,996,002 (GRCm38)	missense	probably damaging	1.00
R1650:Syne2	UTSW	12	75,904,259 (GRCm38)	nonsense	probably null
R1654:Syne2	UTSW	12	76,101,094 (GRCm38)	missense	possibly damaging	0.56
R1714:Syne2	UTSW	12	76,054,939 (GRCm38)	missense	probably benign	0.26
R1750:Syne2	UTSW	12	76,052,805 (GRCm38)	missense	probably damaging	1.00
R1772:Syne2	UTSW	12	75,938,729 (GRCm38)	missense	probably benign	0.19
R1797:Syne2	UTSW	12	75,963,783 (GRCm38)	missense	probably benign	0.00
R1830:Syne2	UTSW	12	76,109,862 (GRCm38)	missense	probably damaging	1.00
R1837:Syne2	UTSW	12	75,967,660 (GRCm38)	missense	probably damaging	0.99
R1908:Syne2	UTSW	12	76,094,279 (GRCm38)	critical splice acceptor site	probably null
R1913:Syne2	UTSW	12	75,899,246 (GRCm38)	missense	possibly damaging	0.60
R1944:Syne2	UTSW	12	76,074,544 (GRCm38)	missense	probably damaging	1.00
R1950:Syne2	UTSW	12	75,952,870 (GRCm38)	missense	probably benign
R1958:Syne2	UTSW	12	75,969,545 (GRCm38)	missense	probably benign	0.11
R2018:Syne2	UTSW	12	76,074,579 (GRCm38)	missense	probably damaging	1.00
R2037:Syne2	UTSW	12	76,025,569 (GRCm38)	missense	probably benign	0.04
R2067:Syne2	UTSW	12	75,888,342 (GRCm38)	critical splice donor site	probably null
R2073:Syne2	UTSW	12	76,015,579 (GRCm38)	missense	possibly damaging	0.54
R2099:Syne2	UTSW	12	75,979,973 (GRCm38)	missense	probably benign	0.06
R2102:Syne2	UTSW	12	76,028,079 (GRCm38)	missense	probably benign	0.01
R2134:Syne2	UTSW	12	75,952,786 (GRCm38)	missense	probably damaging	0.99
R2135:Syne2	UTSW	12	75,952,786 (GRCm38)	missense	probably damaging	0.99
R2157:Syne2	UTSW	12	76,094,456 (GRCm38)	missense	probably damaging	1.00
R2173:Syne2	UTSW	12	76,100,989 (GRCm38)	splice site	probably benign
R2248:Syne2	UTSW	12	76,096,904 (GRCm38)	missense	probably damaging	1.00
R2276:Syne2	UTSW	12	75,927,466 (GRCm38)	missense	possibly damaging	0.87
R2277:Syne2	UTSW	12	75,927,466 (GRCm38)	missense	possibly damaging	0.87
R2278:Syne2	UTSW	12	75,927,466 (GRCm38)	missense	possibly damaging	0.87
R2279:Syne2	UTSW	12	75,927,466 (GRCm38)	missense	possibly damaging	0.87
R2483:Syne2	UTSW	12	76,095,537 (GRCm38)	missense	probably damaging	1.00
R2877:Syne2	UTSW	12	76,000,831 (GRCm38)	missense	probably benign	0.00
R2884:Syne2	UTSW	12	75,963,759 (GRCm38)	missense	probably benign	0.00
R3119:Syne2	UTSW	12	75,909,284 (GRCm38)	missense	probably benign	0.01
R3499:Syne2	UTSW	12	76,054,978 (GRCm38)	splice site	probably null
R3827:Syne2	UTSW	12	75,987,031 (GRCm38)	missense	probably benign	0.02
R3847:Syne2	UTSW	12	76,048,622 (GRCm38)	missense	probably damaging	1.00
R3849:Syne2	UTSW	12	76,046,065 (GRCm38)	nonsense	probably null
R3850:Syne2	UTSW	12	76,048,622 (GRCm38)	missense	probably damaging	1.00
R3859:Syne2	UTSW	12	75,929,784 (GRCm38)	missense	possibly damaging	0.55
R3861:Syne2	UTSW	12	75,966,479 (GRCm38)	missense	probably damaging	0.98
R4078:Syne2	UTSW	12	76,035,624 (GRCm38)	missense	probably damaging	1.00
R4116:Syne2	UTSW	12	75,931,079 (GRCm38)	missense	probably damaging	1.00
R4326:Syne2	UTSW	12	75,952,742 (GRCm38)	missense	probably damaging	1.00
R4335:Syne2	UTSW	12	76,028,092 (GRCm38)	missense	probably damaging	1.00
R4410:Syne2	UTSW	12	76,094,393 (GRCm38)	missense	probably damaging	1.00
R4412:Syne2	UTSW	12	76,106,060 (GRCm38)	missense	probably benign	0.01
R4444:Syne2	UTSW	12	76,023,030 (GRCm38)	missense	probably damaging	1.00
R4595:Syne2	UTSW	12	75,967,071 (GRCm38)	missense	possibly damaging	0.88
R4604:Syne2	UTSW	12	75,967,710 (GRCm38)	missense	probably damaging	0.99
R4606:Syne2	UTSW	12	75,989,253 (GRCm38)	missense	probably damaging	1.00
R4651:Syne2	UTSW	12	75,989,239 (GRCm38)	missense	probably damaging	0.99
R4656:Syne2	UTSW	12	76,031,373 (GRCm38)	missense	probably damaging	1.00
R4675:Syne2	UTSW	12	75,949,301 (GRCm38)	missense	probably damaging	1.00
R4790:Syne2	UTSW	12	76,020,391 (GRCm38)	missense	probably benign	0.19
R4791:Syne2	UTSW	12	75,909,244 (GRCm38)	missense	possibly damaging	0.96
R4799:Syne2	UTSW	12	75,899,167 (GRCm38)	missense	probably benign	0.04
R4836:Syne2	UTSW	12	75,979,819 (GRCm38)	missense	probably damaging	1.00
R4880:Syne2	UTSW	12	75,979,819 (GRCm38)	missense	probably damaging	1.00
R4881:Syne2	UTSW	12	75,979,819 (GRCm38)	missense	probably damaging	1.00
R4899:Syne2	UTSW	12	75,854,101 (GRCm38)	missense	probably benign	0.03
R4934:Syne2	UTSW	12	75,899,272 (GRCm38)	missense	probably benign	0.14
R4981:Syne2	UTSW	12	75,941,219 (GRCm38)	missense	probably damaging	0.98
R4996:Syne2	UTSW	12	75,943,950 (GRCm38)	missense	possibly damaging	0.87
R5056:Syne2	UTSW	12	75,909,131 (GRCm38)	unclassified	probably benign
R5095:Syne2	UTSW	12	75,952,826 (GRCm38)	missense	probably damaging	0.99
R5151:Syne2	UTSW	12	76,043,710 (GRCm38)	missense	probably benign	0.06
R5193:Syne2	UTSW	12	76,094,420 (GRCm38)	missense	probably damaging	1.00
R5267:Syne2	UTSW	12	75,938,741 (GRCm38)	missense	possibly damaging	0.74
R5288:Syne2	UTSW	12	76,099,338 (GRCm38)	missense	possibly damaging	0.94
R5402:Syne2	UTSW	12	76,059,439 (GRCm38)	missense	probably damaging	0.98
R5434:Syne2	UTSW	12	75,971,875 (GRCm38)	missense	probably damaging	1.00
R5441:Syne2	UTSW	12	75,989,143 (GRCm38)	missense	possibly damaging	0.75
R5488:Syne2	UTSW	12	75,888,172 (GRCm38)	missense	probably benign	0.13
R5497:Syne2	UTSW	12	75,880,389 (GRCm38)	missense	probably benign	0.19
R5506:Syne2	UTSW	12	75,938,721 (GRCm38)	missense	probably benign	0.01
R5509:Syne2	UTSW	12	75,921,244 (GRCm38)	missense	probably damaging	1.00
R5518:Syne2	UTSW	12	75,945,170 (GRCm38)	missense	possibly damaging	0.88
R5561:Syne2	UTSW	12	76,094,458 (GRCm38)	nonsense	probably null
R5581:Syne2	UTSW	12	75,945,085 (GRCm38)	missense	probably benign	0.01
R5625:Syne2	UTSW	12	76,095,112 (GRCm38)	missense	probably benign	0.06
R5642:Syne2	UTSW	12	75,918,532 (GRCm38)	missense	probably damaging	1.00
R5665:Syne2	UTSW	12	76,108,217 (GRCm38)	critical splice donor site	probably null
R5666:Syne2	UTSW	12	75,950,959 (GRCm38)	missense	probably benign	0.16
R5670:Syne2	UTSW	12	75,950,959 (GRCm38)	missense	probably benign	0.16
R5691:Syne2	UTSW	12	76,027,856 (GRCm38)	frame shift	probably null
R5696:Syne2	UTSW	12	75,994,145 (GRCm38)	missense	probably benign	0.00
R5720:Syne2	UTSW	12	75,967,667 (GRCm38)	missense	probably benign	0.03
R5739:Syne2	UTSW	12	75,997,465 (GRCm38)	missense	possibly damaging	0.53
R5840:Syne2	UTSW	12	75,880,291 (GRCm38)	splice site	probably null
R5846:Syne2	UTSW	12	76,028,124 (GRCm38)	missense	probably benign	0.01
R5850:Syne2	UTSW	12	76,097,975 (GRCm38)	missense	probably damaging	1.00
R5889:Syne2	UTSW	12	76,072,252 (GRCm38)	nonsense	probably null
R5912:Syne2	UTSW	12	75,908,947 (GRCm38)	critical splice donor site	probably null
R5931:Syne2	UTSW	12	76,008,865 (GRCm38)	missense	probably benign	0.37
R5985:Syne2	UTSW	12	75,966,159 (GRCm38)	missense	probably damaging	0.96
R5988:Syne2	UTSW	12	75,929,417 (GRCm38)	critical splice donor site	probably null
R5990:Syne2	UTSW	12	76,024,144 (GRCm38)	missense	probably benign	0.10
R6038:Syne2	UTSW	12	75,878,384 (GRCm38)	nonsense	probably null
R6038:Syne2	UTSW	12	75,878,384 (GRCm38)	nonsense	probably null
R6132:Syne2	UTSW	12	75,945,147 (GRCm38)	missense	probably benign	0.14
R6136:Syne2	UTSW	12	75,905,325 (GRCm38)	missense	probably benign	0.24
R6229:Syne2	UTSW	12	75,921,220 (GRCm38)	missense	probably benign	0.00
R6252:Syne2	UTSW	12	75,969,436 (GRCm38)	missense	probably benign	0.39
R6271:Syne2	UTSW	12	75,890,381 (GRCm38)	missense	probably damaging	1.00
R6320:Syne2	UTSW	12	76,061,650 (GRCm38)	missense	probably damaging	0.96
R6339:Syne2	UTSW	12	75,989,153 (GRCm38)	missense	probably benign	0.34
R6380:Syne2	UTSW	12	76,104,980 (GRCm38)	missense	probably damaging	0.98
R6394:Syne2	UTSW	12	75,990,495 (GRCm38)	missense	probably benign	0.09
R6419:Syne2	UTSW	12	76,096,966 (GRCm38)	missense	probably damaging	1.00
R6426:Syne2	UTSW	12	75,923,083 (GRCm38)	missense	probably null	0.97
R6434:Syne2	UTSW	12	76,041,456 (GRCm38)	missense	probably damaging	0.99
R6437:Syne2	UTSW	12	75,990,414 (GRCm38)	missense	possibly damaging	0.87
R6466:Syne2	UTSW	12	75,943,901 (GRCm38)	missense	probably damaging	0.97
R6501:Syne2	UTSW	12	76,027,847 (GRCm38)	splice site	probably null
R6552:Syne2	UTSW	12	75,890,241 (GRCm38)	missense	possibly damaging	0.89
R6744:Syne2	UTSW	12	76,074,447 (GRCm38)	missense	probably damaging	1.00
R6810:Syne2	UTSW	12	75,942,885 (GRCm38)	missense	probably benign	0.00
R6831:Syne2	UTSW	12	75,966,794 (GRCm38)	missense	probably benign	0.39
R6861:Syne2	UTSW	12	75,909,266 (GRCm38)	missense	probably damaging	1.00
R6875:Syne2	UTSW	12	76,035,630 (GRCm38)	missense	probably damaging	0.99
R6892:Syne2	UTSW	12	75,962,528 (GRCm38)	missense	probably damaging	0.98
R6899:Syne2	UTSW	12	76,095,729 (GRCm38)	splice site	probably null
R6906:Syne2	UTSW	12	75,995,986 (GRCm38)	missense	possibly damaging	0.93
R6909:Syne2	UTSW	12	76,064,195 (GRCm38)	missense	probably benign	0.04
R6925:Syne2	UTSW	12	75,854,132 (GRCm38)	missense	possibly damaging	0.58
R6949:Syne2	UTSW	12	75,965,997 (GRCm38)	missense	probably benign	0.00
R6952:Syne2	UTSW	12	75,927,431 (GRCm38)	missense	possibly damaging	0.76
R6996:Syne2	UTSW	12	76,028,012 (GRCm38)	missense	probably damaging	0.99
R7080:Syne2	UTSW	12	76,052,727 (GRCm38)	missense	probably benign	0.00
R7083:Syne2	UTSW	12	75,943,888 (GRCm38)	missense	probably damaging	1.00
R7090:Syne2	UTSW	12	75,942,351 (GRCm38)	missense	probably benign
R7144:Syne2	UTSW	12	76,005,378 (GRCm38)	missense	probably benign	0.03
R7154:Syne2	UTSW	12	76,059,457 (GRCm38)	missense	possibly damaging	0.63
R7177:Syne2	UTSW	12	75,971,880 (GRCm38)	nonsense	probably null
R7190:Syne2	UTSW	12	76,066,587 (GRCm38)	missense	probably benign	0.01
R7206:Syne2	UTSW	12	76,004,757 (GRCm38)	missense	probably benign	0.02
R7208:Syne2	UTSW	12	76,031,398 (GRCm38)	splice site	probably null
R7230:Syne2	UTSW	12	75,933,900 (GRCm38)	missense	probably benign	0.12
R7260:Syne2	UTSW	12	75,945,079 (GRCm38)	missense	probably damaging	1.00
R7272:Syne2	UTSW	12	76,048,643 (GRCm38)	missense	probably benign	0.00
R7296:Syne2	UTSW	12	76,103,036 (GRCm38)	missense	probably benign	0.00
R7322:Syne2	UTSW	12	75,984,024 (GRCm38)	missense	probably damaging	1.00
R7329:Syne2	UTSW	12	75,966,984 (GRCm38)	missense	probably benign	0.01
R7332:Syne2	UTSW	12	75,967,755 (GRCm38)	critical splice donor site	probably null
R7381:Syne2	UTSW	12	75,926,489 (GRCm38)	missense	probably benign	0.11
R7401:Syne2	UTSW	12	75,967,381 (GRCm38)	missense	probably damaging	0.98
R7403:Syne2	UTSW	12	75,915,246 (GRCm38)	missense	not run
R7429:Syne2	UTSW	12	76,040,410 (GRCm38)	nonsense	probably null
R7429:Syne2	UTSW	12	75,933,996 (GRCm38)	missense	probably damaging	1.00
R7430:Syne2	UTSW	12	76,040,410 (GRCm38)	nonsense	probably null
R7430:Syne2	UTSW	12	75,933,996 (GRCm38)	missense	probably damaging	1.00
R7438:Syne2	UTSW	12	76,015,563 (GRCm38)	missense	probably benign	0.04
R7447:Syne2	UTSW	12	76,028,079 (GRCm38)	missense	probably benign	0.01
R7466:Syne2	UTSW	12	76,046,186 (GRCm38)	missense	possibly damaging	0.92
R7493:Syne2	UTSW	12	75,965,880 (GRCm38)	missense	probably benign	0.00
R7502:Syne2	UTSW	12	76,094,326 (GRCm38)	missense	probably damaging	1.00
R7543:Syne2	UTSW	12	75,906,842 (GRCm38)	missense	possibly damaging	0.93
R7569:Syne2	UTSW	12	75,927,390 (GRCm38)	missense	probably benign	0.00
R7599:Syne2	UTSW	12	75,966,371 (GRCm38)	missense	probably benign	0.04
R7618:Syne2	UTSW	12	75,945,334 (GRCm38)	missense	probably benign	0.01
R7639:Syne2	UTSW	12	75,934,499 (GRCm38)	missense	probably damaging	1.00
R7698:Syne2	UTSW	12	75,949,064 (GRCm38)	missense	probably damaging	0.99
R7702:Syne2	UTSW	12	75,990,387 (GRCm38)	missense	probably benign	0.16
R7737:Syne2	UTSW	12	75,942,848 (GRCm38)	missense	probably damaging	1.00
R7742:Syne2	UTSW	12	76,059,435 (GRCm38)	missense	probably benign	0.02
R7753:Syne2	UTSW	12	76,038,923 (GRCm38)	missense	probably benign	0.43
R7755:Syne2	UTSW	12	75,997,407 (GRCm38)	missense	probably benign	0.19
R7757:Syne2	UTSW	12	76,061,779 (GRCm38)	missense	possibly damaging	0.87
R7790:Syne2	UTSW	12	75,929,103 (GRCm38)	splice site	probably null
R7808:Syne2	UTSW	12	75,983,727 (GRCm38)	splice site	probably null
R7809:Syne2	UTSW	12	75,967,456 (GRCm38)	missense	probably benign	0.00
R7811:Syne2	UTSW	12	75,983,727 (GRCm38)	splice site	probably null
R7834:Syne2	UTSW	12	75,967,247 (GRCm38)	missense	probably benign	0.00
R7853:Syne2	UTSW	12	76,031,504 (GRCm38)	missense	probably damaging	1.00
R7867:Syne2	UTSW	12	75,983,727 (GRCm38)	splice site	probably null
R7896:Syne2	UTSW	12	76,035,623 (GRCm38)	missense	probably damaging	0.99
R7903:Syne2	UTSW	12	76,064,184 (GRCm38)	missense	probably damaging	1.00
R7944:Syne2	UTSW	12	75,904,305 (GRCm38)	missense	probably damaging	0.98
R7945:Syne2	UTSW	12	75,904,305 (GRCm38)	missense	probably damaging	0.98
R7963:Syne2	UTSW	12	76,020,400 (GRCm38)	missense	probably benign	0.38
R7996:Syne2	UTSW	12	76,004,667 (GRCm38)	missense	probably damaging	1.00
R7998:Syne2	UTSW	12	76,087,858 (GRCm38)	missense	probably damaging	1.00
R8010:Syne2	UTSW	12	75,930,738 (GRCm38)	missense	probably benign	0.39
R8016:Syne2	UTSW	12	75,942,907 (GRCm38)	missense	probably benign	0.19
R8140:Syne2	UTSW	12	75,912,353 (GRCm38)	missense	possibly damaging	0.63
R8141:Syne2	UTSW	12	76,061,668 (GRCm38)	missense	possibly damaging	0.66
R8206:Syne2	UTSW	12	76,015,591 (GRCm38)	missense	probably benign	0.03
R8258:Syne2	UTSW	12	75,949,369 (GRCm38)	missense	possibly damaging	0.95
R8259:Syne2	UTSW	12	75,949,369 (GRCm38)	missense	possibly damaging	0.95
R8320:Syne2	UTSW	12	76,103,830 (GRCm38)	missense	probably damaging	0.99
R8464:Syne2	UTSW	12	75,965,772 (GRCm38)	missense	probably benign	0.39
R8465:Syne2	UTSW	12	75,854,124 (GRCm38)	missense	possibly damaging	0.92
R8486:Syne2	UTSW	12	76,042,107 (GRCm38)	nonsense	probably null
R8488:Syne2	UTSW	12	75,965,772 (GRCm38)	missense	probably benign	0.39
R8511:Syne2	UTSW	12	76,008,873 (GRCm38)	missense	probably benign	0.03
R8540:Syne2	UTSW	12	76,094,374 (GRCm38)	missense	probably damaging	1.00
R8711:Syne2	UTSW	12	76,057,484 (GRCm38)	missense	probably damaging	1.00
R8722:Syne2	UTSW	12	75,925,321 (GRCm38)	missense	probably benign	0.04
R8827:Syne2	UTSW	12	76,048,583 (GRCm38)	missense	probably benign	0.00
R8867:Syne2	UTSW	12	75,942,846 (GRCm38)	missense	probably damaging	1.00
R8878:Syne2	UTSW	12	75,905,293 (GRCm38)	missense	probably benign
R8924:Syne2	UTSW	12	75,896,670 (GRCm38)	missense	probably damaging	0.97
R8966:Syne2	UTSW	12	76,099,423 (GRCm38)	missense	probably damaging	1.00
R9007:Syne2	UTSW	12	76,099,450 (GRCm38)	missense	possibly damaging	0.82
R9019:Syne2	UTSW	12	75,952,844 (GRCm38)	missense	possibly damaging	0.93
R9057:Syne2	UTSW	12	75,890,393 (GRCm38)	missense	probably damaging	1.00
R9067:Syne2	UTSW	12	75,904,220 (GRCm38)	missense	probably damaging	1.00
R9081:Syne2	UTSW	12	75,969,516 (GRCm38)	nonsense	probably null
R9091:Syne2	UTSW	12	75,931,060 (GRCm38)	missense	probably damaging	1.00
R9123:Syne2	UTSW	12	75,994,064 (GRCm38)	missense	probably damaging	1.00
R9147:Syne2	UTSW	12	75,890,384 (GRCm38)	missense	probably damaging	1.00
R9148:Syne2	UTSW	12	75,890,384 (GRCm38)	missense	probably damaging	1.00
R9163:Syne2	UTSW	12	75,962,575 (GRCm38)	missense	possibly damaging	0.88
R9192:Syne2	UTSW	12	76,109,929 (GRCm38)	missense	probably damaging	1.00
R9248:Syne2	UTSW	12	76,107,456 (GRCm38)	intron	probably benign
R9270:Syne2	UTSW	12	75,931,060 (GRCm38)	missense	probably damaging	1.00
R9292:Syne2	UTSW	12	75,951,049 (GRCm38)	missense	probably benign
R9397:Syne2	UTSW	12	75,994,075 (GRCm38)	missense	possibly damaging	0.59
R9454:Syne2	UTSW	12	76,095,070 (GRCm38)	nonsense	probably null
R9454:Syne2	UTSW	12	76,020,501 (GRCm38)	missense	probably damaging	0.99
R9478:Syne2	UTSW	12	76,107,613 (GRCm38)	missense	probably damaging	0.96
R9492:Syne2	UTSW	12	75,949,065 (GRCm38)	missense	possibly damaging	0.77
R9573:Syne2	UTSW	12	75,880,360 (GRCm38)	missense	probably damaging	1.00
R9611:Syne2	UTSW	12	76,033,686 (GRCm38)	missense	probably benign	0.05
R9623:Syne2	UTSW	12	75,939,986 (GRCm38)	missense	probably benign	0.12
R9647:Syne2	UTSW	12	76,105,101 (GRCm38)	missense	possibly damaging	0.55
R9652:Syne2	UTSW	12	76,054,846 (GRCm38)	missense	probably benign	0.00
R9667:Syne2	UTSW	12	75,880,177 (GRCm38)	missense	probably damaging	1.00
R9701:Syne2	UTSW	12	75,990,423 (GRCm38)	missense	probably damaging	1.00
R9794:Syne2	UTSW	12	76,000,843 (GRCm38)	missense	probably benign	0.04
R9802:Syne2	UTSW	12	75,990,423 (GRCm38)	missense	probably damaging	1.00
X0019:Syne2	UTSW	12	75,973,287 (GRCm38)	missense	probably benign	0.41
X0026:Syne2	UTSW	12	76,101,016 (GRCm38)	missense	possibly damaging	0.78
X0061:Syne2	UTSW	12	75,927,511 (GRCm38)	critical splice donor site	probably null
X0066:Syne2	UTSW	12	76,096,927 (GRCm38)	missense	probably damaging	1.00
Z1176:Syne2	UTSW	12	76,040,383 (GRCm38)	missense	possibly damaging	0.48
Z1176:Syne2	UTSW	12	75,967,541 (GRCm38)	missense	probably benign	0.01
Z1177:Syne2	UTSW	12	75,973,423 (GRCm38)	missense	probably damaging	1.00
Z1177:Syne2	UTSW	12	76,097,974 (GRCm38)	missense	probably damaging	1.00
Z1177:Syne2	UTSW	12	76,064,138 (GRCm38)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- GTGCAAGCTGATTCACGATGG -3'
(R):5'- CGTCCTTGTAGGCATTTGTAAG -3'

Sequencing Primer
(F):5'- CAAGCTGATTCACGATGGCATTCTG -3'
(R):5'- AAGTTCTTGAAGATGGGCCG -3'

Posted On

2016-06-06