Mutagenetix > Incidental Mutation

Incidental Mutation 'R0615:Synpo2'

55000

Institutional Source

Beutler Lab

Gene Symbol

Synpo2

Ensembl Gene

ENSMUSG00000050315

Gene Name

synaptopodin 2

Synonyms

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

MMRRC Submission

038804-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0615 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123076519-123236149 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123117287 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 236 (N236K)

Ref Sequence

ENSEMBL: ENSMUSP00000102035 (fasta)

Gene Model

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

AlphaFold

Q91YE8

Predicted Effect

probably benign
Transcript: ENSMUST00000051443

SMART Domains

Protein: ENSMUSP00000051570
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	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: N236K

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102034
Gene: ENSMUSG00000050315
AA Change: N236K

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: N236K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102035
Gene: ENSMUSG00000050315
AA Change: N236K

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: N236K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142508
Gene: ENSMUSG00000050315
AA Change: N236K

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

0.1848

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931440F15Rik	C	A	11: 29,824,515	R314L	probably damaging	Het
4933411K16Rik	T	C	19: 42,052,523	I31T	possibly damaging	Het
Abca13	A	G	11: 9,256,197	I166V	probably damaging	Het
Acaa2	G	T	18: 74,798,446	V238L	probably benign	Het
Ahsg	A	T	16: 22,899,055	I296F	possibly damaging	Het
Aspm	T	A	1: 139,487,289	V1436D	probably damaging	Het
Ate1	A	T	7: 130,513,833		probably benign	Het
Atp1a4	A	T	1: 172,232,060		probably benign	Het
Aurkc	A	T	7: 7,002,403	I223L	possibly damaging	Het
Bckdha	G	T	7: 25,641,785	D50E	probably benign	Het
Brf2	C	T	8: 27,124,031	E376K	probably benign	Het
Cdk9	C	A	2: 32,709,801	L141F	possibly damaging	Het
Cgn	A	C	3: 94,770,714		probably benign	Het
Clcn1	G	A	6: 42,305,575	V526I	probably damaging	Het
Cnot2	A	G	10: 116,498,236	V343A	possibly damaging	Het
Commd2	A	T	3: 57,646,695	V195D	possibly damaging	Het
Cubn	C	T	2: 13,360,252		probably null	Het
Eif2ak4	C	T	2: 118,436,185	T729M	probably damaging	Het
Elac1	A	T	18: 73,738,883	V347E	probably damaging	Het
Fam209	T	C	2: 172,474,133	S143P	probably benign	Het
Fam20c	G	A	5: 138,807,486	R454Q	probably damaging	Het
Fam214a	T	A	9: 75,004,288	Y14N	probably damaging	Het
Faxc	C	T	4: 21,958,608	S255L	probably benign	Het
Foxj1	T	C	11: 116,334,082	D153G	possibly damaging	Het
Gm6605	C	A	7: 38,448,275		noncoding transcript	Het
Lmo7	T	A	14: 101,876,859	Y12*	probably null	Het
Matn3	T	G	12: 8,963,594	C425W	probably damaging	Het
Mmd2	A	T	5: 142,564,913	M190K	probably benign	Het
Morn2	A	T	17: 80,295,597	T102S	probably damaging	Het
Nr3c2	A	C	8: 77,185,889	T710P	probably benign	Het
Nrros	C	A	16: 32,144,085	L343F	probably damaging	Het
Ntrk2	C	T	13: 59,128,186	Q767*	probably null	Het
Olfr1297	C	T	2: 111,621,919	D52N	possibly damaging	Het
Olfr92	G	C	17: 37,111,455	L176V	probably benign	Het
Plekhf2	C	T	4: 10,991,330	R4H	probably benign	Het
Ppox	A	G	1: 171,277,814		probably benign	Het
Qprt	T	A	7: 127,109,076	D61V	probably damaging	Het
Reln	A	G	5: 22,010,150	V1101A	probably benign	Het
Sbno1	T	C	5: 124,410,139	N124D	probably damaging	Het
Scx	C	T	15: 76,458,095	P165L	probably benign	Het
Sema6d	T	C	2: 124,654,135		probably benign	Het
Serf2	T	C	2: 121,450,855	F92L	probably benign	Het
Tbc1d32	C	A	10: 56,224,640	D81Y	probably benign	Het
Terf2	G	A	8: 107,082,990	T232I	possibly damaging	Het
Tpd52l2	A	G	2: 181,501,951	E50G	probably damaging	Het
Tprn	A	G	2: 25,264,198	E504G	probably damaging	Het
Tufm	G	T	7: 126,487,482	R12L	probably benign	Het
Vmn2r8	A	G	5: 108,799,329	F519S	probably damaging	Het
Vwa8	T	C	14: 78,908,150	V89A	probably benign	Het
Wnt3	T	C	11: 103,812,381	I230T	possibly damaging	Het
Zan	A	T	5: 137,468,431	F388Y	probably damaging	Het
Zfp474	C	T	18: 52,638,349	L25F	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AGCCTTCAGCCTGTCAGAGCAATC -3'
(R):5'- TGCTCCAGTCCAGACTAAAGTTCCC -3'

Sequencing Primer
(F):5'- GCCTGTCAGAGCAATCTAGAATC -3'
(R):5'- GACTAAAGTTCCCCTAACTGAGG -3'

Posted On

2013-07-11