Mutagenetix > Incidental Mutation

Incidental Mutation 'R0666:Synpo2'

62008

Institutional Source

Beutler Lab

Gene Symbol

Synpo2

Ensembl Gene

ENSMUSG00000050315

Gene Name

synaptopodin 2

Synonyms

1110069I04Rik, 2310068J10Rik, 9530006G20Rik, myopodin, Myo

MMRRC Submission

038851-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0666 (G1)

Quality Score

121

Status

Validated

Chromosome

Chromosomal Location

122870168-123029798 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122907708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 536 (V536E)

Ref Sequence

ENSEMBL: ENSMUSP00000102035 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051443] [ENSMUST00000106426] [ENSMUST00000106427] [ENSMUST00000184590] [ENSMUST00000198584]

AlphaFold

Q91YE8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051443
AA Change: V206E

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000051570
Gene: ENSMUSG00000050315
AA Change: V206E

Domain	Start	End	E-Value	Type
PDZ	15	88	6.51e-14	SMART
low complexity region	339	357	N/A	INTRINSIC
internal_repeat_2	377	398	1.92e-5	PROSPERO
low complexity region	406	424	N/A	INTRINSIC
low complexity region	434	448	N/A	INTRINSIC
internal_repeat_1	477	503	1.04e-7	PROSPERO
internal_repeat_2	478	499	1.92e-5	PROSPERO
low complexity region	534	549	N/A	INTRINSIC
low complexity region	609	621	N/A	INTRINSIC
low complexity region	628	651	N/A	INTRINSIC
low complexity region	740	777	N/A	INTRINSIC
low complexity region	802	814	N/A	INTRINSIC
low complexity region	846	854	N/A	INTRINSIC
internal_repeat_1	858	884	1.04e-7	PROSPERO
low complexity region	941	950	N/A	INTRINSIC
low complexity region	1034	1051	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106426
AA Change: V536E

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102034
Gene: ENSMUSG00000050315
AA Change: V536E

Domain	Start	End	E-Value	Type
PDZ	15	88	6.51e-14	SMART
low complexity region	339	357	N/A	INTRINSIC
internal_repeat_2	377	398	4.61e-5	PROSPERO
low complexity region	406	424	N/A	INTRINSIC
low complexity region	434	448	N/A	INTRINSIC
internal_repeat_1	477	503	2.92e-7	PROSPERO
internal_repeat_2	478	499	4.61e-5	PROSPERO
low complexity region	534	549	N/A	INTRINSIC
low complexity region	609	621	N/A	INTRINSIC
low complexity region	628	651	N/A	INTRINSIC
low complexity region	740	777	N/A	INTRINSIC
low complexity region	802	814	N/A	INTRINSIC
low complexity region	846	854	N/A	INTRINSIC
internal_repeat_1	858	884	2.92e-7	PROSPERO
low complexity region	941	950	N/A	INTRINSIC
low complexity region	1034	1051	N/A	INTRINSIC
low complexity region	1196	1211	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106427
AA Change: V536E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102035
Gene: ENSMUSG00000050315
AA Change: V536E

Domain	Start	End	E-Value	Type
PDZ	15	88	6.51e-14	SMART
low complexity region	339	357	N/A	INTRINSIC
internal_repeat_2	377	398	6.19e-5	PROSPERO
low complexity region	406	424	N/A	INTRINSIC
low complexity region	434	448	N/A	INTRINSIC
internal_repeat_1	477	503	4.33e-7	PROSPERO
internal_repeat_2	478	499	6.19e-5	PROSPERO
low complexity region	534	549	N/A	INTRINSIC
low complexity region	609	621	N/A	INTRINSIC
low complexity region	628	651	N/A	INTRINSIC
low complexity region	740	777	N/A	INTRINSIC
low complexity region	802	814	N/A	INTRINSIC
low complexity region	846	854	N/A	INTRINSIC
internal_repeat_1	858	884	4.33e-7	PROSPERO
low complexity region	941	950	N/A	INTRINSIC
low complexity region	1137	1152	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139160

SMART Domains

Protein: ENSMUSP00000123396
Gene: ENSMUSG00000050315

Domain	Start	End	E-Value	Type
low complexity region	155	170	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184590

SMART Domains

Protein: ENSMUSP00000142426
Gene: ENSMUSG00000050315

Domain	Start	End	E-Value	Type
low complexity region	48	57	N/A	INTRINSIC
low complexity region	141	158	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198584
AA Change: V536E

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142508
Gene: ENSMUSG00000050315
AA Change: V536E

Domain	Start	End	E-Value	Type
PDZ	15	88	6.51e-14	SMART
low complexity region	339	357	N/A	INTRINSIC
internal_repeat_2	377	398	1.92e-5	PROSPERO
low complexity region	406	424	N/A	INTRINSIC
low complexity region	434	448	N/A	INTRINSIC
internal_repeat_1	477	503	1.04e-7	PROSPERO
internal_repeat_2	478	499	1.92e-5	PROSPERO
low complexity region	534	549	N/A	INTRINSIC
low complexity region	609	621	N/A	INTRINSIC
low complexity region	628	651	N/A	INTRINSIC
low complexity region	740	777	N/A	INTRINSIC
low complexity region	802	814	N/A	INTRINSIC
low complexity region	846	854	N/A	INTRINSIC
internal_repeat_1	858	884	1.04e-7	PROSPERO
low complexity region	941	950	N/A	INTRINSIC
low complexity region	1034	1051	N/A	INTRINSIC

Meta Mutation Damage Score

0.1090

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

100% (89/89)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	A	12: 52,958,591 (GRCm39)	V782E	probably damaging	Het
Atg9a	A	G	1: 75,161,734 (GRCm39)	L604P	probably damaging	Het
Atp1a3	T	C	7: 24,689,974 (GRCm39)	I482V	probably benign	Het
Bltp2	T	G	11: 78,178,813 (GRCm39)	M2026R	probably damaging	Het
Bltp2	T	A	11: 78,168,038 (GRCm39)	L1491*	probably null	Het
Ccdc18	T	G	5: 108,311,530 (GRCm39)	V412G	probably benign	Het
Ccn6	T	C	10: 39,027,285 (GRCm39)	R316G	probably benign	Het
Cct6a	A	G	5: 129,871,449 (GRCm39)		noncoding transcript	Het
Clpx	A	G	9: 65,217,507 (GRCm39)	N25S	probably damaging	Het
Cnpy2	T	A	10: 128,162,894 (GRCm39)	C171*	probably null	Het
Cntnap3	C	T	13: 64,905,211 (GRCm39)	D857N	probably damaging	Het
Col5a1	A	G	2: 27,922,697 (GRCm39)	Y255C	probably damaging	Het
Coro7	A	T	16: 4,449,775 (GRCm39)	F638Y	possibly damaging	Het
Cpd	A	G	11: 76,673,153 (GRCm39)	F1331L	probably damaging	Het
Csmd1	A	T	8: 16,119,063 (GRCm39)	I1842N	possibly damaging	Het
Dgkg	T	A	16: 22,381,480 (GRCm39)	D490V	probably damaging	Het
Dnah9	A	T	11: 65,976,284 (GRCm39)	M1255K	probably benign	Het
E2f1	A	G	2: 154,402,849 (GRCm39)	V306A	probably benign	Het
Entpd1	A	G	19: 40,648,350 (GRCm39)		probably benign	Het
Esrrb	T	A	12: 86,552,676 (GRCm39)	I222N	probably benign	Het
Flt4	G	T	11: 49,516,274 (GRCm39)	A126S	possibly damaging	Het
Galnt11	C	T	5: 25,457,145 (GRCm39)	T237I	possibly damaging	Het
Galnt2l	A	T	8: 122,997,727 (GRCm39)		probably benign	Het
Gbf1	A	G	19: 46,250,983 (GRCm39)		probably benign	Het
H2-T9	T	C	17: 36,438,726 (GRCm39)	T222A	possibly damaging	Het
Herc1	T	A	9: 66,392,170 (GRCm39)		probably benign	Het
Hsph1	T	C	5: 149,554,967 (GRCm39)	Y105C	probably damaging	Het
Il23r	T	C	6: 67,411,664 (GRCm39)	T358A	probably benign	Het
Il2ra	C	T	2: 11,647,884 (GRCm39)		probably benign	Het
Kbtbd4	G	T	2: 90,744,459 (GRCm39)		probably benign	Het
Kcnt1	A	G	2: 25,781,255 (GRCm39)		probably benign	Het
Kng2	A	G	16: 22,815,872 (GRCm39)		probably benign	Het
Lap3	C	T	5: 45,669,270 (GRCm39)	T473I	possibly damaging	Het
Lrrk2	T	C	15: 91,641,273 (GRCm39)		probably null	Het
Map1s	A	G	8: 71,366,696 (GRCm39)	N534D	possibly damaging	Het
Mtg1	G	A	7: 139,724,257 (GRCm39)	V122I	probably benign	Het
Myadm	T	A	7: 3,345,865 (GRCm39)	I209K	probably damaging	Het
Ntsr2	G	A	12: 16,703,981 (GRCm39)	V75I	probably benign	Het
Or4b1b	A	T	2: 90,112,212 (GRCm39)	S236T	probably damaging	Het
Or8u10	G	A	2: 85,915,557 (GRCm39)	A188V	probably benign	Het
Pfn1	T	C	11: 70,545,192 (GRCm39)	T39A	probably benign	Het
Pipox	T	A	11: 77,774,651 (GRCm39)	K144M	probably benign	Het
Plekhh1	G	A	12: 79,115,889 (GRCm39)	E811K	probably damaging	Het
Pnpla3	T	A	15: 84,063,506 (GRCm39)	W295R	probably benign	Het
Prkacb	T	A	3: 146,457,273 (GRCm39)	T136S	probably damaging	Het
Ralbp1	T	A	17: 66,161,124 (GRCm39)	N473I	probably benign	Het
Rbp4	G	A	19: 38,106,908 (GRCm39)	T127M	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rps3a1	G	A	3: 86,045,424 (GRCm39)		probably benign	Het
Scg3	G	T	9: 75,551,222 (GRCm39)	Y429*	probably null	Het
Shisal2b	G	T	13: 104,994,862 (GRCm39)	T95K	possibly damaging	Het
Spag5	T	C	11: 78,204,222 (GRCm39)	S492P	probably damaging	Het
St7	T	A	6: 17,934,238 (GRCm39)	M540K	probably damaging	Het
Stxbp3	C	A	3: 108,712,618 (GRCm39)	V281F	possibly damaging	Het
Sun5	A	G	2: 153,700,968 (GRCm39)	V242A	possibly damaging	Het
Susd5	G	T	9: 113,924,852 (GRCm39)	R245L	possibly damaging	Het
Syne2	A	G	12: 75,969,787 (GRCm39)	E954G	probably damaging	Het
Tas2r140	T	C	6: 133,032,405 (GRCm39)	I118V	probably benign	Het
Tbx18	C	A	9: 87,606,462 (GRCm39)	V228L	probably benign	Het
Tdrd9	T	A	12: 111,974,014 (GRCm39)		probably benign	Het
Tektl1	C	A	10: 78,586,381 (GRCm39)	L223F	probably benign	Het
Tg	T	C	15: 66,609,370 (GRCm39)	M310T	probably benign	Het
Ticam2	T	A	18: 46,693,718 (GRCm39)	D123V	probably damaging	Het
Timm23	A	G	14: 31,920,993 (GRCm39)		probably benign	Het
Tinag	C	T	9: 76,912,969 (GRCm39)	R280H	probably benign	Het
Topbp1	G	A	9: 103,186,011 (GRCm39)	R51K	probably benign	Het
Tor1b	A	G	2: 30,843,925 (GRCm39)	I121V	probably damaging	Het
Tpmt	C	A	13: 47,185,930 (GRCm39)	G148V	probably damaging	Het
Tubb1	A	G	2: 174,299,548 (GRCm39)	E410G	probably damaging	Het
Ubash3b	C	A	9: 40,958,360 (GRCm39)	V7L	possibly damaging	Het
Ube2o	C	T	11: 116,433,661 (GRCm39)	E686K	probably damaging	Het
Unc13d	T	A	11: 115,960,318 (GRCm39)		probably benign	Het
Vmn1r183	A	T	7: 23,754,601 (GRCm39)	M135L	probably benign	Het
Xkr8	T	C	4: 132,459,649 (GRCm39)	Y43C	probably damaging	Het
Zc3h4	T	A	7: 16,168,697 (GRCm39)	N935K	unknown	Het
Zc3h7a	G	A	16: 10,974,167 (GRCm39)		probably benign	Het
Zfp84	C	T	7: 29,476,276 (GRCm39)	H323Y	probably damaging	Het
Zfp873	G	T	10: 81,896,595 (GRCm39)	S442I	possibly damaging	Het
Zfp938	A	G	10: 82,061,606 (GRCm39)	L338P	probably damaging	Het

Other mutations in Synpo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Synpo2	APN	3	122,906,859 (GRCm39)	missense	probably damaging	1.00
IGL00742:Synpo2	APN	3	122,907,525 (GRCm39)	missense	probably damaging	1.00
IGL01890:Synpo2	APN	3	122,906,146 (GRCm39)	missense	probably damaging	1.00
IGL02268:Synpo2	APN	3	122,910,632 (GRCm39)	missense	probably damaging	1.00
IGL02323:Synpo2	APN	3	122,911,183 (GRCm39)	missense	probably benign	0.00
IGL02745:Synpo2	APN	3	122,907,261 (GRCm39)	missense	probably damaging	1.00
IGL03001:Synpo2	APN	3	122,873,604 (GRCm39)	missense	probably benign	0.00
IGL03177:Synpo2	APN	3	122,914,864 (GRCm39)	missense	probably damaging	1.00
IGL03336:Synpo2	APN	3	122,907,828 (GRCm39)	missense	possibly damaging	0.60
R0086:Synpo2	UTSW	3	122,910,753 (GRCm39)	nonsense	probably null
R0126:Synpo2	UTSW	3	122,873,511 (GRCm39)	missense	possibly damaging	0.71
R0227:Synpo2	UTSW	3	122,907,442 (GRCm39)	missense	probably benign	0.02
R0284:Synpo2	UTSW	3	122,873,383 (GRCm39)	nonsense	probably null
R0388:Synpo2	UTSW	3	122,873,546 (GRCm39)	missense	probably benign
R0457:Synpo2	UTSW	3	122,906,421 (GRCm39)	missense	probably damaging	1.00
R0483:Synpo2	UTSW	3	122,907,981 (GRCm39)	missense	probably damaging	1.00
R0615:Synpo2	UTSW	3	122,910,936 (GRCm39)	missense	probably damaging	1.00
R0646:Synpo2	UTSW	3	122,908,098 (GRCm39)	missense	probably damaging	1.00
R0743:Synpo2	UTSW	3	122,906,355 (GRCm39)	missense	probably benign	0.02
R0791:Synpo2	UTSW	3	122,906,835 (GRCm39)	missense	probably benign
R1531:Synpo2	UTSW	3	122,911,315 (GRCm39)	missense	probably benign	0.03
R1587:Synpo2	UTSW	3	122,908,047 (GRCm39)	missense	probably damaging	0.98
R1717:Synpo2	UTSW	3	122,906,203 (GRCm39)	missense	probably damaging	1.00
R1807:Synpo2	UTSW	3	122,873,906 (GRCm39)	missense	possibly damaging	0.71
R2114:Synpo2	UTSW	3	122,873,537 (GRCm39)	missense	probably benign	0.01
R2987:Synpo2	UTSW	3	122,910,622 (GRCm39)	missense	probably damaging	1.00
R3019:Synpo2	UTSW	3	122,907,228 (GRCm39)	missense	probably damaging	1.00
R3939:Synpo2	UTSW	3	122,908,239 (GRCm39)	missense	probably damaging	1.00
R4050:Synpo2	UTSW	3	122,907,927 (GRCm39)	missense	possibly damaging	0.81
R4119:Synpo2	UTSW	3	122,910,799 (GRCm39)	missense	probably damaging	1.00
R4669:Synpo2	UTSW	3	122,906,712 (GRCm39)	missense	probably damaging	1.00
R4724:Synpo2	UTSW	3	122,907,940 (GRCm39)	missense	probably damaging	1.00
R4825:Synpo2	UTSW	3	122,908,068 (GRCm39)	missense	probably damaging	0.98
R5152:Synpo2	UTSW	3	123,029,550 (GRCm39)	critical splice donor site	probably null
R5292:Synpo2	UTSW	3	122,907,709 (GRCm39)	missense	possibly damaging	0.51
R5396:Synpo2	UTSW	3	122,911,331 (GRCm39)	nonsense	probably null
R5701:Synpo2	UTSW	3	122,873,879 (GRCm39)	missense	probably damaging	1.00
R5712:Synpo2	UTSW	3	122,914,859 (GRCm39)	missense	probably damaging	1.00
R5730:Synpo2	UTSW	3	122,907,768 (GRCm39)	missense	probably benign	0.04
R5879:Synpo2	UTSW	3	122,907,946 (GRCm39)	missense	probably damaging	1.00
R5979:Synpo2	UTSW	3	122,911,060 (GRCm39)	missense	probably damaging	1.00
R6290:Synpo2	UTSW	3	122,910,701 (GRCm39)	missense	probably damaging	0.98
R6384:Synpo2	UTSW	3	122,906,698 (GRCm39)	nonsense	probably null
R6498:Synpo2	UTSW	3	122,873,881 (GRCm39)	splice site	probably null
R7123:Synpo2	UTSW	3	122,906,835 (GRCm39)	missense	probably benign
R7153:Synpo2	UTSW	3	122,906,053 (GRCm39)	makesense	probably null
R7233:Synpo2	UTSW	3	122,911,333 (GRCm39)	missense	probably benign	0.01
R7301:Synpo2	UTSW	3	122,907,702 (GRCm39)	missense	probably benign	0.10
R7318:Synpo2	UTSW	3	122,910,968 (GRCm39)	missense	probably benign
R7366:Synpo2	UTSW	3	122,907,690 (GRCm39)	missense	probably damaging	0.96
R7630:Synpo2	UTSW	3	122,873,681 (GRCm39)	missense	probably damaging	1.00
R7962:Synpo2	UTSW	3	123,029,635 (GRCm39)	missense	probably benign	0.09
R8068:Synpo2	UTSW	3	122,911,041 (GRCm39)	missense	possibly damaging	0.59
R8335:Synpo2	UTSW	3	122,908,183 (GRCm39)	missense	probably damaging	1.00
R9066:Synpo2	UTSW	3	122,911,133 (GRCm39)	missense	possibly damaging	0.66
R9269:Synpo2	UTSW	3	122,910,973 (GRCm39)	missense	probably benign	0.00
R9318:Synpo2	UTSW	3	122,873,705 (GRCm39)	missense	probably damaging	1.00
R9623:Synpo2	UTSW	3	122,908,047 (GRCm39)	missense	possibly damaging	0.68
R9685:Synpo2	UTSW	3	122,911,366 (GRCm39)	missense	probably damaging	1.00
Z1177:Synpo2	UTSW	3	122,906,659 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATAGATCCCAGGAAGGGTTTGGCG -3'
(R):5'- CTTGGAACCAGTGAGTCGGAAGTG -3'

Sequencing Primer
(F):5'- GCGGTTCTATTCATAGGGAACATC -3'
(R):5'- TGGAAATGTTGCCAGACACC -3'

Posted On

2013-07-30