Mutagenetix > Incidental Mutation

Incidental Mutation 'R5375:Sun2'

429039

Institutional Source

Beutler Lab

Gene Symbol

Sun2

Ensembl Gene

ENSMUSG00000042524

Gene Name

Sad1 and UNC84 domain containing 2

Synonyms

B230369L08Rik, Unc84b

MMRRC Submission

042951-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5375 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79608271-79626737 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79611723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 565 (S565P)

Ref Sequence

ENSEMBL: ENSMUSP00000098006 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046259] [ENSMUST00000089311] [ENSMUST00000100439]

AlphaFold

Q8BJS4

Predicted Effect

probably damaging
Transcript: ENSMUST00000046259
AA Change: S567P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047864
Gene: ENSMUSG00000042524
AA Change: S567P

Domain	Start	End	E-Value	Type
low complexity region	12	33	N/A	INTRINSIC
low complexity region	63	80	N/A	INTRINSIC
low complexity region	106	123	N/A	INTRINSIC
transmembrane domain	174	196	N/A	INTRINSIC
transmembrane domain	226	248	N/A	INTRINSIC
low complexity region	327	339	N/A	INTRINSIC
coiled coil region	418	453	N/A	INTRINSIC
coiled coil region	491	519	N/A	INTRINSIC
Pfam:Sad1_UNC	595	729	1.3e-49	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000089311
AA Change: S535P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086724
Gene: ENSMUSG00000042524
AA Change: S535P

Domain	Start	End	E-Value	Type
low complexity region	12	33	N/A	INTRINSIC
low complexity region	63	80	N/A	INTRINSIC
low complexity region	106	123	N/A	INTRINSIC
transmembrane domain	194	216	N/A	INTRINSIC
low complexity region	295	307	N/A	INTRINSIC
coiled coil region	386	421	N/A	INTRINSIC
coiled coil region	459	487	N/A	INTRINSIC
Pfam:Sad1_UNC	563	697	1.1e-49	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100439
AA Change: S565P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098006
Gene: ENSMUSG00000042524
AA Change: S565P

Domain	Start	End	E-Value	Type
low complexity region	12	33	N/A	INTRINSIC
low complexity region	63	80	N/A	INTRINSIC
low complexity region	106	123	N/A	INTRINSIC
transmembrane domain	174	196	N/A	INTRINSIC
transmembrane domain	224	246	N/A	INTRINSIC
low complexity region	325	337	N/A	INTRINSIC
coiled coil region	416	451	N/A	INTRINSIC
coiled coil region	489	517	N/A	INTRINSIC
Pfam:Sad1_UNC	593	727	1.2e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162392

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231189

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SUN1 (MIM 607723) and SUN2 are inner nuclear membrane (INM) proteins that play a major role in nuclear-cytoplasmic connection by formation of a 'bridge' across the nuclear envelope, known as the LINC complex, via interaction with the conserved luminal KASH domain of nesprins (e.g., SYNE1; MIM 608441) located in the outer nuclear membrane (ONM). The LINC complex provides a direct connection between the nuclear lamina and the cytoskeleton, which contributes to nuclear positioning and cellular rigidity (summary by Haque et al., 2010 [PubMed 19933576]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit no gross abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy3	T	A	12: 4,260,870 (GRCm39)	N995K	probably damaging	Het
Aldh4a1	T	C	4: 139,361,233 (GRCm39)	M60T	probably benign	Het
Alpk2	A	T	18: 65,505,809 (GRCm39)	H70Q	probably damaging	Het
Babam2	T	A	5: 31,859,207 (GRCm39)	I5N	possibly damaging	Het
Blm	T	C	7: 80,162,977 (GRCm39)	T125A	probably benign	Het
Bloc1s1	T	C	10: 128,759,826 (GRCm39)		probably benign	Het
Calcr	G	T	6: 3,714,651 (GRCm39)	Q160K	probably benign	Het
Ccdc43	C	T	11: 102,581,058 (GRCm39)	A131T	probably damaging	Het
Cdh15	A	T	8: 123,591,839 (GRCm39)	N575Y	probably damaging	Het
Chd8	T	C	14: 52,441,611 (GRCm39)	D827G	probably damaging	Het
Col3a1	A	G	1: 45,387,059 (GRCm39)		probably null	Het
Creb5	A	T	6: 53,658,002 (GRCm39)	M255L	possibly damaging	Het
Cst8	A	G	2: 148,646,503 (GRCm39)	I78V	probably benign	Het
Cyld	A	G	8: 89,459,664 (GRCm39)	E440G	possibly damaging	Het
Cyp2b9	A	C	7: 25,887,167 (GRCm39)	D192A	probably damaging	Het
Dclre1b	C	T	3: 103,711,290 (GRCm39)	R207H	probably damaging	Het
Dnah6	A	T	6: 73,100,838 (GRCm39)	F1936L	probably damaging	Het
Dpp9	A	C	17: 56,496,424 (GRCm39)	Y761*	probably null	Het
Drc1	A	T	5: 30,513,745 (GRCm39)	M434L	probably benign	Het
Dtx3l	A	T	16: 35,753,397 (GRCm39)	I403N	probably damaging	Het
Ecpas	T	A	4: 58,809,401 (GRCm39)	K1658*	probably null	Het
Efcab9	A	G	11: 32,477,484 (GRCm39)	Y13H	probably damaging	Het
Efhb	T	A	17: 53,708,654 (GRCm39)	N672I	possibly damaging	Het
Eif5b	T	C	1: 38,084,835 (GRCm39)	V894A	possibly damaging	Het
Elovl3	T	C	19: 46,123,135 (GRCm39)	F237S	probably benign	Het
Emc1	T	A	4: 139,093,802 (GRCm39)	D637E	probably damaging	Het
Erbb2	C	A	11: 98,324,238 (GRCm39)	P742Q	probably damaging	Het
Fam234b	C	A	6: 135,210,355 (GRCm39)	L584M	probably damaging	Het
Fancd2	A	T	6: 113,545,673 (GRCm39)	D14V	possibly damaging	Het
Fat2	T	C	11: 55,153,646 (GRCm39)	H3522R	probably benign	Het
Fgfr2	T	C	7: 129,842,945 (GRCm39)	N147D	possibly damaging	Het
Gm26657	A	G	4: 56,741,180 (GRCm39)		probably benign	Het
Hcrtr1	C	T	4: 130,029,518 (GRCm39)	V188M	probably benign	Het
Herc1	T	C	9: 66,375,169 (GRCm39)	V3331A	probably damaging	Het
Hmcn2	T	C	2: 31,320,453 (GRCm39)	V3978A	possibly damaging	Het
Invs	G	A	4: 48,385,262 (GRCm39)	R202K	probably benign	Het
Lgr5	C	T	10: 115,314,469 (GRCm39)	S156N	probably benign	Het
Mras	T	G	9: 99,276,669 (GRCm39)	D67A	probably damaging	Het
Mrpl39	A	G	16: 84,520,790 (GRCm39)	L283P	probably damaging	Het
Ncoa6	A	T	2: 155,275,915 (GRCm39)	I110N	probably benign	Het
Neb	T	C	2: 52,102,596 (GRCm39)	D544G	possibly damaging	Het
Nlrc3	A	G	16: 3,782,617 (GRCm39)	I264T	possibly damaging	Het
Or10a2	T	A	7: 106,673,080 (GRCm39)	M15K	probably benign	Het
Or1j13	A	G	2: 36,369,309 (GRCm39)	Y278H	probably damaging	Het
Or5k16	T	C	16: 58,736,248 (GRCm39)	Y252C	possibly damaging	Het
Or7g18	A	G	9: 18,787,442 (GRCm39)	K273R	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Phf11d	T	C	14: 59,590,120 (GRCm39)	D234G	probably null	Het
Polq	A	T	16: 36,903,146 (GRCm39)	D1980V	probably damaging	Het
Rasa1	A	T	13: 85,437,022 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sec23a	A	G	12: 59,053,791 (GRCm39)	V69A	probably benign	Het
Sipa1	A	G	19: 5,709,640 (GRCm39)	I260T	probably damaging	Het
Smarcc1	T	A	9: 110,020,017 (GRCm39)	L628H	probably damaging	Het
Snx31	A	G	15: 36,525,730 (GRCm39)	V323A	probably damaging	Het
Tmem74	C	T	15: 43,730,564 (GRCm39)	D160N	possibly damaging	Het
Tnik	T	C	3: 28,648,241 (GRCm39)	M431T	probably benign	Het
Trp53inp1	A	G	4: 11,165,305 (GRCm39)	T110A	probably benign	Het
Ttll9	G	T	2: 152,826,144 (GRCm39)	C118F	probably benign	Het
Vps4b	A	G	1: 106,719,422 (GRCm39)	L42P	probably benign	Het
Xirp2	A	T	2: 67,342,250 (GRCm39)	N1497I	probably damaging	Het
Xpo4	A	G	14: 57,875,764 (GRCm39)	V123A	probably damaging	Het
Zfhx4	A	T	3: 5,477,485 (GRCm39)	T3367S	probably damaging	Het
Zfp236	T	C	18: 82,615,813 (GRCm39)	E1782G	possibly damaging	Het
Zfp35	T	A	18: 24,135,973 (GRCm39)	C106S	possibly damaging	Het
Zfpm1	A	G	8: 123,062,812 (GRCm39)	T624A	probably benign	Het
Zmiz2	C	T	11: 6,347,519 (GRCm39)	Q276*	probably null	Het

Other mutations in Sun2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03325:Sun2	APN	15	79,622,849 (GRCm39)	missense	probably benign	0.34
R0049:Sun2	UTSW	15	79,611,810 (GRCm39)	splice site	probably benign
R0049:Sun2	UTSW	15	79,611,810 (GRCm39)	splice site	probably benign
R0189:Sun2	UTSW	15	79,621,277 (GRCm39)	missense	probably damaging	1.00
R0349:Sun2	UTSW	15	79,614,433 (GRCm39)	missense	probably damaging	1.00
R1183:Sun2	UTSW	15	79,612,669 (GRCm39)	missense	probably damaging	1.00
R1751:Sun2	UTSW	15	79,609,758 (GRCm39)	missense	probably benign
R1767:Sun2	UTSW	15	79,609,758 (GRCm39)	missense	probably benign
R1843:Sun2	UTSW	15	79,621,764 (GRCm39)	missense	probably benign
R2005:Sun2	UTSW	15	79,610,825 (GRCm39)	missense	possibly damaging	0.80
R2062:Sun2	UTSW	15	79,622,852 (GRCm39)	missense	probably damaging	1.00
R2358:Sun2	UTSW	15	79,612,114 (GRCm39)	missense	possibly damaging	0.95
R3712:Sun2	UTSW	15	79,612,114 (GRCm39)	missense	possibly damaging	0.95
R3937:Sun2	UTSW	15	79,618,356 (GRCm39)	missense	probably benign	0.14
R3938:Sun2	UTSW	15	79,618,356 (GRCm39)	missense	probably benign	0.14
R4869:Sun2	UTSW	15	79,612,587 (GRCm39)	intron	probably benign
R4871:Sun2	UTSW	15	79,611,765 (GRCm39)	missense	probably damaging	1.00
R5482:Sun2	UTSW	15	79,621,712 (GRCm39)	missense	probably benign	0.01
R5555:Sun2	UTSW	15	79,618,328 (GRCm39)	missense	probably benign	0.01
R5657:Sun2	UTSW	15	79,612,150 (GRCm39)	nonsense	probably null
R5662:Sun2	UTSW	15	79,623,069 (GRCm39)	missense	probably benign	0.01
R6144:Sun2	UTSW	15	79,614,533 (GRCm39)	missense	probably benign
R6975:Sun2	UTSW	15	79,618,420 (GRCm39)	nonsense	probably null
R7127:Sun2	UTSW	15	79,612,100 (GRCm39)	missense	probably benign	0.00
R7358:Sun2	UTSW	15	79,618,313 (GRCm39)	missense	probably benign	0.29
R7614:Sun2	UTSW	15	79,623,225 (GRCm39)	splice site	probably null
R8181:Sun2	UTSW	15	79,609,721 (GRCm39)	missense	probably damaging	0.99
R8343:Sun2	UTSW	15	79,623,125 (GRCm39)	missense	probably damaging	1.00
R9068:Sun2	UTSW	15	79,612,252 (GRCm39)	missense	probably benign	0.01
R9117:Sun2	UTSW	15	79,614,517 (GRCm39)	missense	probably benign	0.09
R9186:Sun2	UTSW	15	79,611,737 (GRCm39)	missense	probably damaging	1.00
R9365:Sun2	UTSW	15	79,622,720 (GRCm39)	critical splice donor site	probably null
Z1177:Sun2	UTSW	15	79,622,721 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TAACCTAGTCTCACAGAGCCATTC -3'
(R):5'- ATGAACAAAGCCTGCTTGGG -3'

Sequencing Primer
(F):5'- AGAGCCATTCCCAGCCAGG -3'
(R):5'- AGCCTGCTTGGGTACTACTG -3'

Posted On

2016-09-06