Mutagenetix > Incidental Mutation

Incidental Mutation 'R1587:Synpo2'

177551

Institutional Source

Beutler Lab

Gene Symbol

Synpo2

Ensembl Gene

ENSMUSG00000050315

Gene Name

synaptopodin 2

Synonyms

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

MMRRC Submission

039624-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1587 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123076519-123236149 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123114398 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 423 (D423V)

Ref Sequence

ENSEMBL: ENSMUSP00000142508 (fasta)

Gene Model

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

AlphaFold

Q91YE8

Predicted Effect

probably benign
Transcript: ENSMUST00000051443
AA Change: D93V

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000051570
Gene: ENSMUSG00000050315
AA Change: D93V

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: D423V

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102034
Gene: ENSMUSG00000050315
AA Change: D423V

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

possibly damaging
Transcript: ENSMUST00000106427
AA Change: D423V

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102035
Gene: ENSMUSG00000050315
AA Change: D423V

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

probably damaging
Transcript: ENSMUST00000198584
AA Change: D423V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142508
Gene: ENSMUSG00000050315
AA Change: D423V

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

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	G	T	6: 149,326,520	V355F	probably damaging	Het
A530064D06Rik	A	T	17: 48,166,417	S111T	probably benign	Het
Abhd2	A	T	7: 79,354,010	H279L	probably benign	Het
Ablim1	C	T	19: 57,083,547	M1I	probably null	Het
Agrn	T	C	4: 156,179,440	Q122R	probably damaging	Het
Arfgef1	A	T	1: 10,159,959	F1218I	probably damaging	Het
Bud13	C	T	9: 46,290,215	P395S	probably damaging	Het
Ccdc110	G	A	8: 45,941,746	V225M	probably benign	Het
Ccdc30	A	T	4: 119,353,176	S248T	probably damaging	Het
Cdh7	C	A	1: 110,100,027	Q501K	probably damaging	Het
Cwc27	T	C	13: 104,792,637	D266G	probably benign	Het
Cyp2d40	T	A	15: 82,761,133		probably null	Het
Cyp4a32	T	G	4: 115,610,534	N238K	probably benign	Het
Ddx11	T	C	17: 66,149,256	L770P	probably damaging	Het
Dgcr8	C	T	16: 18,280,291	G412E	probably damaging	Het
Disp2	C	A	2: 118,791,583	A932D	probably damaging	Het
Dlg4	T	A	11: 70,031,746	N291K	possibly damaging	Het
Dnajc7	A	G	11: 100,601,730	I39T	probably damaging	Het
Eno3	T	C	11: 70,661,470	V316A	probably damaging	Het
Ep400	G	A	5: 110,726,902	T944I	probably benign	Het
Ezh2	T	G	6: 47,552,490		probably null	Het
F7	A	T	8: 13,034,783	I270F	possibly damaging	Het
Fancc	A	G	13: 63,340,432	F245L	probably benign	Het
Fzd7	G	A	1: 59,483,006	C16Y	possibly damaging	Het
Gm29394	A	G	15: 58,028,612	*200Q	probably null	Het
Ikbkap	G	A	4: 56,786,666	Q426*	probably null	Het
Ints8	A	G	4: 11,245,722		probably null	Het
Krt36	A	T	11: 100,102,302	I449N	probably damaging	Het
Ldlr	A	T	9: 21,737,913	H328L	probably damaging	Het
Limk2	T	C	11: 3,353,455	N101S	possibly damaging	Het
Lrp4	A	G	2: 91,476,305	N321S	probably benign	Het
Mafk	T	C	5: 139,800,145	S33P	probably damaging	Het
Mbtps1	T	C	8: 119,518,219	Y831C	probably damaging	Het
Mfge8	T	A	7: 79,134,765	I344F	probably damaging	Het
Myo5b	T	C	18: 74,733,990	V1430A	probably benign	Het
Nbas	G	A	12: 13,558,685	R2154H	probably benign	Het
Nlrp6	G	A	7: 140,923,046	R355H	probably damaging	Het
Noc4l	T	C	5: 110,653,023	T76A	probably benign	Het
Nrp1	T	A	8: 128,476,282	C583S	probably damaging	Het
Olfr1161	T	A	2: 88,025,133	M137K	probably damaging	Het
Olfr1362	C	T	13: 21,611,913	D19N	probably benign	Het
Pgm5	T	A	19: 24,815,749	I318F	probably damaging	Het
Phf1	T	A	17: 26,937,492	V536D	probably damaging	Het
Prpf4b	C	A	13: 34,892,150	A641D	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rbm47	A	G	5: 66,024,991	I433T	probably benign	Het
S100a3	G	A	3: 90,602,311	E88K	probably benign	Het
Sesn1	A	G	10: 41,811,112	I31V	probably benign	Het
Son	T	A	16: 91,659,718	S1784R	probably damaging	Het
Srbd1	G	T	17: 85,985,437	D901E	probably damaging	Het
St8sia6	C	T	2: 13,672,605	D134N	possibly damaging	Het
Vmn2r108	A	G	17: 20,472,121	S158P	probably damaging	Het
Vmn2r109	A	T	17: 20,540,740	V785E	probably damaging	Het
Zfp143	A	G	7: 110,074,068	D124G	probably benign	Het
Zfp251	A	G	15: 76,870,284	L54P	probably damaging	Het
Zfp324	G	T	7: 12,970,643	S253I	possibly damaging	Het
Zfp59	A	G	7: 27,854,134	E337G	possibly damaging	Het
Zfp663	G	T	2: 165,353,517	Q261K	probably benign	Het
Zhx3	T	C	2: 160,781,693		probably null	Het

Other mutations in Synpo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Synpo2	APN	3	123113210	missense	probably damaging	1.00
IGL00742:Synpo2	APN	3	123113876	missense	probably damaging	1.00
IGL01890:Synpo2	APN	3	123112497	missense	probably damaging	1.00
IGL02268:Synpo2	APN	3	123116983	missense	probably damaging	1.00
IGL02323:Synpo2	APN	3	123117534	missense	probably benign	0.00
IGL02745:Synpo2	APN	3	123113612	missense	probably damaging	1.00
IGL03001:Synpo2	APN	3	123079955	missense	probably benign	0.00
IGL03177:Synpo2	APN	3	123121215	missense	probably damaging	1.00
IGL03336:Synpo2	APN	3	123114179	missense	possibly damaging	0.60
R0086:Synpo2	UTSW	3	123117104	nonsense	probably null
R0126:Synpo2	UTSW	3	123079862	missense	possibly damaging	0.71
R0227:Synpo2	UTSW	3	123113793	missense	probably benign	0.02
R0284:Synpo2	UTSW	3	123079734	nonsense	probably null
R0388:Synpo2	UTSW	3	123079897	missense	probably benign
R0457:Synpo2	UTSW	3	123112772	missense	probably damaging	1.00
R0483:Synpo2	UTSW	3	123114332	missense	probably damaging	1.00
R0615:Synpo2	UTSW	3	123117287	missense	probably damaging	1.00
R0646:Synpo2	UTSW	3	123114449	missense	probably damaging	1.00
R0666:Synpo2	UTSW	3	123114059	missense	probably damaging	0.98
R0743:Synpo2	UTSW	3	123112706	missense	probably benign	0.02
R0791:Synpo2	UTSW	3	123113186	missense	probably benign
R1531:Synpo2	UTSW	3	123117666	missense	probably benign	0.03
R1717:Synpo2	UTSW	3	123112554	missense	probably damaging	1.00
R1807:Synpo2	UTSW	3	123080257	missense	possibly damaging	0.71
R2114:Synpo2	UTSW	3	123079888	missense	probably benign	0.01
R2987:Synpo2	UTSW	3	123116973	missense	probably damaging	1.00
R3019:Synpo2	UTSW	3	123113579	missense	probably damaging	1.00
R3939:Synpo2	UTSW	3	123114590	missense	probably damaging	1.00
R4050:Synpo2	UTSW	3	123114278	missense	possibly damaging	0.81
R4119:Synpo2	UTSW	3	123117150	missense	probably damaging	1.00
R4669:Synpo2	UTSW	3	123113063	missense	probably damaging	1.00
R4724:Synpo2	UTSW	3	123114291	missense	probably damaging	1.00
R4825:Synpo2	UTSW	3	123114419	missense	probably damaging	0.98
R5152:Synpo2	UTSW	3	123235901	critical splice donor site	probably null
R5292:Synpo2	UTSW	3	123114060	missense	possibly damaging	0.51
R5396:Synpo2	UTSW	3	123117682	nonsense	probably null
R5701:Synpo2	UTSW	3	123080230	missense	probably damaging	1.00
R5712:Synpo2	UTSW	3	123121210	missense	probably damaging	1.00
R5730:Synpo2	UTSW	3	123114119	missense	probably benign	0.04
R5879:Synpo2	UTSW	3	123114297	missense	probably damaging	1.00
R5979:Synpo2	UTSW	3	123117411	missense	probably damaging	1.00
R6290:Synpo2	UTSW	3	123117052	missense	probably damaging	0.98
R6384:Synpo2	UTSW	3	123113049	nonsense	probably null
R6498:Synpo2	UTSW	3	123080232	splice site	probably null
R7123:Synpo2	UTSW	3	123113186	missense	probably benign
R7153:Synpo2	UTSW	3	123112404	makesense	probably null
R7233:Synpo2	UTSW	3	123117684	missense	probably benign	0.01
R7301:Synpo2	UTSW	3	123114053	missense	probably benign	0.10
R7318:Synpo2	UTSW	3	123117319	missense	probably benign
R7366:Synpo2	UTSW	3	123114041	missense	probably damaging	0.96
R7630:Synpo2	UTSW	3	123080032	missense	probably damaging	1.00
R7962:Synpo2	UTSW	3	123235986	missense	probably benign	0.09
R8068:Synpo2	UTSW	3	123117392	missense	possibly damaging	0.59
R8335:Synpo2	UTSW	3	123114534	missense	probably damaging	1.00
R9066:Synpo2	UTSW	3	123117484	missense	possibly damaging	0.66
R9269:Synpo2	UTSW	3	123117324	missense	probably benign	0.00
R9318:Synpo2	UTSW	3	123080056	missense	probably damaging	1.00
R9623:Synpo2	UTSW	3	123114398	missense	possibly damaging	0.68
R9685:Synpo2	UTSW	3	123117717	missense	probably damaging	1.00
Z1177:Synpo2	UTSW	3	123113010	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCATCTGGAAGGAACTTTCGCTC -3'
(R):5'- TCTAAGTGCAAAAGCATCGCCCTC -3'

Sequencing Primer
(F):5'- CTCTTGGCAAACATGAGCG -3'
(R):5'- GCCCTCCTCCTAACGGATG -3'

Posted On

2014-04-24