Mutagenetix > Incidental Mutations

Incidental Mutation 'R2159:Srgap3'

235043

Institutional Source

Beutler Lab

Gene Symbol

Srgap3

Ensembl Gene

ENSMUSG00000030257

Gene Name

SLIT-ROBO Rho GTPase activating protein 3

Synonyms

D130026O08Rik, Arhgap14

MMRRC Submission

040162-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.313) question?

Stock #

R2159 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112717971-112947266 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112771378 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 438 (F438L)

Ref Sequence

ENSEMBL: ENSMUSP00000108794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088373] [ENSMUST00000113169] [ENSMUST00000131835]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000060215

Predicted Effect

probably damaging
Transcript: ENSMUST00000088373
AA Change: F438L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000085712
Gene: ENSMUSG00000030257
AA Change: F438L

Domain	Start	End	E-Value	Type
FCH	22	120	3.81e-16	SMART
low complexity region	172	190	N/A	INTRINSIC
coiled coil region	353	392	N/A	INTRINSIC
low complexity region	484	495	N/A	INTRINSIC
RhoGAP	517	691	7.43e-66	SMART
SH3	747	802	9.69e-15	SMART
coiled coil region	955	985	N/A	INTRINSIC
low complexity region	1025	1038	N/A	INTRINSIC
low complexity region	1053	1064	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113169
AA Change: F438L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108794
Gene: ENSMUSG00000030257
AA Change: F438L

Domain	Start	End	E-Value	Type
FCH	22	120	3.81e-16	SMART
low complexity region	172	190	N/A	INTRINSIC
coiled coil region	353	392	N/A	INTRINSIC
Blast:RhoGAP	434	474	4e-11	BLAST
low complexity region	476	488	N/A	INTRINSIC
RhoGAP	493	667	7.43e-66	SMART
SH3	723	778	9.69e-15	SMART
coiled coil region	931	961	N/A	INTRINSIC
low complexity region	1001	1014	N/A	INTRINSIC
low complexity region	1029	1040	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131835

SMART Domains

Protein: ENSMUSP00000130063
Gene: ENSMUSG00000030257

Domain	Start	End	E-Value	Type
Blast:RhoGAP	1	33	2e-14	BLAST
transmembrane domain	69	91	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduction in spine density in the brain CA1 and cortical layers IV/V. Mice homozygous for a different knock-out allele exhibit a neurodevelopment disorder with schizophrenia-related intermediate phenotypes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	G	A	12: 81,560,467	P174S	probably benign	Het
Aida	C	T	1: 183,322,379	P185S	probably benign	Het
Alg11	T	G	8: 22,065,845	I374R	probably benign	Het
Ano9	T	C	7: 141,108,117	I229V	probably benign	Het
Apob	A	T	12: 8,010,081	L2821F	probably benign	Het
Atp10b	C	T	11: 43,151,853	T80I	possibly damaging	Het
BC024139	T	C	15: 76,121,488	H478R	probably damaging	Het
Btbd1	A	T	7: 81,801,056	D325E	possibly damaging	Het
Camk2a	G	A	18: 60,957,185	C199Y	probably damaging	Het
Casp3	A	G	8: 46,634,288	D90G	probably damaging	Het
Ccnt2	A	G	1: 127,775,154	H71R	probably benign	Het
Cdk2ap1	G	A	5: 124,348,604	R65*	probably null	Het
Cebpb	G	T	2: 167,689,253	A78S	probably benign	Het
Col5a3	A	G	9: 20,771,310	F1613L	unknown	Het
Cpd	T	C	11: 76,797,641	D935G	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Cwc27	A	G	13: 104,804,329	I174T	probably damaging	Het
Cyp21a1	C	A	17: 34,802,404	R331L	probably benign	Het
Dnah5	A	G	15: 28,252,545	T795A	probably benign	Het
Eif2ak2	A	G	17: 78,874,018	V100A	possibly damaging	Het
Foxa3	A	G	7: 19,014,184	V339A	probably benign	Het
Gp2	T	C	7: 119,452,284	D236G	probably benign	Het
Gprc6a	CAAA	CA	10: 51,615,680		probably null	Het
Gzmd	T	A	14: 56,130,696	H102L	probably damaging	Het
Klk1b1	A	T	7: 43,970,433	I139F	probably damaging	Het
Lcmt2	G	A	2: 121,139,285	P439L	probably damaging	Het
Loxl4	C	T	19: 42,600,007	A570T	probably damaging	Het
Mga	T	A	2: 119,919,643	H674Q	probably damaging	Het
Mybpc3	A	T	2: 91,125,370	K583M	probably damaging	Het
Ncoa6	G	T	2: 155,407,713	P1224T	probably damaging	Het
Nostrin	A	G	2: 69,180,922		probably null	Het
Olfr1264	A	T	2: 90,021,538	V176E	probably damaging	Het
Olfr70	T	C	4: 43,697,110	H21R	probably benign	Het
Oxsr1	A	C	9: 119,304,814	D58E	possibly damaging	Het
Parm1	A	G	5: 91,613,064	Y265C	probably damaging	Het
Phf10	C	T	17: 14,952,664	E304K	probably damaging	Het
Prmt5	T	C	14: 54,515,338	T139A	probably benign	Het
Ptgir	A	G	7: 16,906,869	M29V	possibly damaging	Het
Ptp4a3	A	G	15: 73,752,016	T32A	probably benign	Het
Pwwp2b	A	T	7: 139,254,928	D95V	possibly damaging	Het
Rad51ap2	T	C	12: 11,457,751	L558S	possibly damaging	Het
Rapgef4	A	G	2: 72,174,881	D80G	probably damaging	Het
Sec24a	T	G	11: 51,712,350	H757P	probably damaging	Het
Sema4d	T	C	13: 51,720,535	N129D	probably damaging	Het
Serpini1	A	G	3: 75,623,944	T323A	probably benign	Het
Setd1a	G	A	7: 127,785,489	R504H	possibly damaging	Het
Sftpb	T	C	6: 72,309,786	C226R	probably damaging	Het
Sp8	T	C	12: 118,848,706	S99P	possibly damaging	Het
Stim2	T	C	5: 54,109,814	Y365H	probably damaging	Het
Stk36	A	G	1: 74,634,737	Q1263R	probably benign	Het
Tectb	C	G	19: 55,180,999		probably benign	Het
Troap	G	T	15: 99,077,586	A184S	probably damaging	Het
Ttn	G	A	2: 76,899,327		probably benign	Het
Vmn2r108	C	A	17: 20,469,101	A531S	probably benign	Het
Vmn2r12	T	A	5: 109,091,474	I408F	probably benign	Het
Vmn2r8	T	A	5: 108,802,303	E226V	probably benign	Het
Vmo1	A	G	11: 70,513,782	F131S	probably benign	Het
Vwf	T	C	6: 125,626,341	F885L	probably damaging	Het
Wdpcp	A	T	11: 21,857,476	M618L	probably benign	Het
Wdr90	T	C	17: 25,851,741	E1072G	probably benign	Het

Other mutations in Srgap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Srgap3	APN	6	112739397	missense	probably damaging	0.98
IGL01325:Srgap3	APN	6	112775686	missense	probably damaging	1.00
IGL01608:Srgap3	APN	6	112946478	missense	probably benign	0.00
IGL01626:Srgap3	APN	6	112773648	missense	probably damaging	0.98
IGL01787:Srgap3	APN	6	112723022	missense	probably benign	0.00
IGL02698:Srgap3	APN	6	112746928	missense	probably damaging	0.98
IGL02805:Srgap3	APN	6	112727263	missense	probably damaging	0.99
IGL02813:Srgap3	APN	6	112731480	missense	probably damaging	1.00
IGL02876:Srgap3	APN	6	112771453	missense	probably damaging	1.00
IGL03264:Srgap3	APN	6	112816675	missense	probably damaging	1.00
IGL03342:Srgap3	APN	6	112775687	missense	probably damaging	1.00
R0007:Srgap3	UTSW	6	112829512	missense	probably damaging	1.00
R0371:Srgap3	UTSW	6	112771471	missense	probably damaging	0.99
R0607:Srgap3	UTSW	6	112723119	missense	probably damaging	1.00
R1628:Srgap3	UTSW	6	112739370	missense	probably damaging	0.99
R1669:Srgap3	UTSW	6	112722904	missense	probably benign	0.36
R1858:Srgap3	UTSW	6	112771518	missense	probably damaging	1.00
R1876:Srgap3	UTSW	6	112775566	missense	probably damaging	0.98
R1896:Srgap3	UTSW	6	112738997	missense	probably benign	0.11
R2221:Srgap3	UTSW	6	112946493	missense	probably damaging	0.98
R2862:Srgap3	UTSW	6	112722972	missense	probably damaging	0.99
R3160:Srgap3	UTSW	6	112729658	missense	probably benign	0.00
R3162:Srgap3	UTSW	6	112729658	missense	probably benign	0.00
R4092:Srgap3	UTSW	6	112723084	missense	probably benign	0.00
R4561:Srgap3	UTSW	6	112781054	missense	probably damaging	0.98
R4781:Srgap3	UTSW	6	112757425	intron	probably benign
R4825:Srgap3	UTSW	6	112727310	missense	probably benign
R4887:Srgap3	UTSW	6	112746934	missense	probably damaging	1.00
R5304:Srgap3	UTSW	6	112766939	missense	probably damaging	1.00
R5556:Srgap3	UTSW	6	112739078	missense	probably damaging	0.99
R5672:Srgap3	UTSW	6	112775561	missense	probably benign
R5879:Srgap3	UTSW	6	112722846	missense	possibly damaging	0.67
R5944:Srgap3	UTSW	6	112795814	missense	possibly damaging	0.89
R6277:Srgap3	UTSW	6	112739383	missense	probably benign	0.02
R6298:Srgap3	UTSW	6	112816610	missense	probably damaging	0.98
R6407:Srgap3	UTSW	6	112723006	missense	probably damaging	0.99
R6408:Srgap3	UTSW	6	112723006	missense	probably damaging	0.99
R6797:Srgap3	UTSW	6	112829542	missense	probably damaging	1.00
R6852:Srgap3	UTSW	6	112816661	missense	probably damaging	1.00
R6965:Srgap3	UTSW	6	112723129	missense	probably damaging	1.00
R7055:Srgap3	UTSW	6	112746963	missense	probably damaging	0.97
R7067:Srgap3	UTSW	6	112757305	intron	probably benign
R7361:Srgap3	UTSW	6	112746921	missense	probably damaging	0.99
R7479:Srgap3	UTSW	6	112735833	critical splice donor site	probably null
R7606:Srgap3	UTSW	6	112739376	missense	probably benign	0.00
R7731:Srgap3	UTSW	6	112766897	missense	probably benign	0.36
R7787:Srgap3	UTSW	6	112775559	missense	probably benign	0.02
R7934:Srgap3	UTSW	6	112731489	missense	probably damaging	1.00
R8026:Srgap3	UTSW	6	112739364	missense	probably benign	0.00
R8040:Srgap3	UTSW	6	112739364	missense	probably benign	0.00
R8066:Srgap3	UTSW	6	112771378	missense	probably damaging	0.99
R8067:Srgap3	UTSW	6	112739364	missense	probably benign	0.00
R8090:Srgap3	UTSW	6	112781035	nonsense	probably null
R8151:Srgap3	UTSW	6	112816667	missense	probably damaging	1.00
R8248:Srgap3	UTSW	6	112723143	missense	probably damaging	1.00
R8365:Srgap3	UTSW	6	112816734	missense	probably damaging	1.00
R8369:Srgap3	UTSW	6	112722818	missense	probably benign
R8444:Srgap3	UTSW	6	112775548	missense	possibly damaging	0.56
R8509:Srgap3	UTSW	6	112731336	nonsense	probably null
R8772:Srgap3	UTSW	6	112766945	missense	probably damaging	1.00
X0062:Srgap3	UTSW	6	112795786	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAAAGGCATCAGTGACCATC -3'
(R):5'- TGCCACCATGCAGACCTTAC -3'

Sequencing Primer
(F):5'- GGGTGAGTCACTCTACACTTCAG -3'
(R):5'- TGCAGACCTTACAGGACATGCTG -3'

Posted On

2014-10-01