Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01890:Synpo2'

179222

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Synpo2

Ensembl Gene

ENSMUSG00000050315

Gene Name

synaptopodin 2

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01890

Quality Score

Status

Chromosome

Chromosomal Location

123076519-123236149 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123112497 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 727 (S727P)

Ref Sequence

ENSEMBL: ENSMUSP00000051570 (fasta)

Gene Model

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

AlphaFold

Q91YE8

Predicted Effect

probably damaging
Transcript: ENSMUST00000051443
AA Change: S727P

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

SMART Domains

Protein: ENSMUSP00000051570
Gene: ENSMUSG00000050315
AA Change: S727P

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

probably benign
Transcript: ENSMUST00000106426
AA Change: S1057P

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102034
Gene: ENSMUSG00000050315
AA Change: S1057P

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 benign
Transcript: ENSMUST00000106427

SMART Domains

Protein: ENSMUSP00000102035
Gene: ENSMUSG00000050315

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
AA Change: S164P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000142426
Gene: ENSMUSG00000050315
AA Change: S164P

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 benign
Transcript: ENSMUST00000198584
AA Change: S1057P

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000142508
Gene: ENSMUSG00000050315
AA Change: S1057P

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	T	12: 80,184,868	V265E	probably damaging	Het
Anks1b	A	G	10: 90,644,527	I865V	probably benign	Het
Car5a	G	A	8: 121,923,610	A182V	probably benign	Het
Ccdc47	A	G	11: 106,205,451	V249A	probably damaging	Het
Cyb561d2	A	G	9: 107,541,523	V34A	probably damaging	Het
Dmbt1	A	G	7: 131,074,419		probably benign	Het
Entpd6	G	A	2: 150,770,692	D445N	possibly damaging	Het
Fastkd2	A	G	1: 63,732,161	I225M	probably benign	Het
Flcn	A	G	11: 59,795,170	V424A	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gpn3	A	G	5: 122,381,265	M176V	probably benign	Het
Igkv12-38	C	T	6: 69,943,405	C43Y	probably damaging	Het
Oas1h	A	G	5: 120,862,789		probably null	Het
Rexo1	A	T	10: 80,543,011	Y1064N	possibly damaging	Het
Skint1	G	A	4: 112,010,681	G2R	probably damaging	Het
Slc4a9	G	A	18: 36,529,707	A172T	possibly damaging	Het
Tmem131	A	T	1: 36,823,156		probably benign	Het
Trpm3	G	T	19: 22,711,719	R4L	probably damaging	Het
Upf1	A	T	8: 70,334,230	V879E	possibly damaging	Het
Vmn1r194	A	T	13: 22,244,606	Y131F	probably benign	Het
Vmn2r95	T	A	17: 18,451,475	N491K	probably damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	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
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
R1587:Synpo2	UTSW	3	123114398	missense	probably damaging	0.98
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

Posted On

2014-05-07