Mutagenetix > Incidental Mutations

Incidental Mutation 'R5237:Srgap1'

398543

Institutional Source

Beutler Lab

Gene Symbol

Srgap1

Ensembl Gene

ENSMUSG00000020121

Gene Name

SLIT-ROBO Rho GTPase activating protein 1

Synonyms

Arhgap13, 4930572H05Rik

MMRRC Submission

042808-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

R5237 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121780991-122047315 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121807883 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 633 (Y633H)

Ref Sequence

ENSEMBL: ENSMUSP00000080389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020322] [ENSMUST00000081688] [ENSMUST00000161156]

Predicted Effect

probably damaging
Transcript: ENSMUST00000020322
AA Change: Y610H

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

SMART Domains

Protein: ENSMUSP00000020322
Gene: ENSMUSG00000020121
AA Change: Y610H

Domain	Start	End	E-Value	Type
FCH	22	121	3.81e-16	SMART
low complexity region	173	193	N/A	INTRINSIC
coiled coil region	352	382	N/A	INTRINSIC
low complexity region	405	418	N/A	INTRINSIC
RhoGAP	494	668	1.27e-64	SMART
SH3	723	778	1.57e-14	SMART
low complexity region	826	840	N/A	INTRINSIC
low complexity region	1004	1014	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000081688
AA Change: Y633H

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

SMART Domains

Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121
AA Change: Y633H

Domain	Start	End	E-Value	Type
FCH	22	121	3.81e-16	SMART
low complexity region	173	193	N/A	INTRINSIC
coiled coil region	352	382	N/A	INTRINSIC
low complexity region	405	418	N/A	INTRINSIC
RhoGAP	517	691	1.27e-64	SMART
SH3	746	801	1.57e-14	SMART
low complexity region	849	863	N/A	INTRINSIC
low complexity region	1027	1037	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161156
AA Change: Y61H

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125109
Gene: ENSMUSG00000020121
AA Change: Y61H

Domain	Start	End	E-Value	Type
Pfam:RhoGAP	1	68	2.6e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161996

Meta Mutation Damage Score

0.8467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

100% (76/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,623,280	W369*	probably null	Het
Adamts3	A	T	5: 89,775,377	M190K	probably benign	Het
Adamtsl1	T	C	4: 86,385,669		probably null	Het
Adcy1	A	T	11: 7,149,553	I678L	probably benign	Het
Agtrap	A	G	4: 148,082,360	S27P	probably benign	Het
Ankrd24	C	A	10: 81,642,545		probably benign	Het
Atg2a	G	T	19: 6,246,814	V383L	probably benign	Het
Ccdc40	T	C	11: 119,259,976	V1105A	probably benign	Het
Cenpf	A	T	1: 189,659,533	S684T	probably benign	Het
Cog7	A	G	7: 121,951,221	L360P	probably damaging	Het
Col12a1	T	A	9: 79,700,262	Q428L	probably benign	Het
Col4a1	G	A	8: 11,245,068		probably benign	Het
Cpeb2	G	A	5: 43,285,756	C930Y	probably damaging	Het
Cul9	T	C	17: 46,543,467	D103G	probably benign	Het
Cyb5a	T	G	18: 84,871,564	F39L	probably damaging	Het
Cyp2d12	T	A	15: 82,558,006		probably null	Het
Dnah7a	A	C	1: 53,447,531		probably null	Het
Efcab9	A	T	11: 32,522,832	I205K	probably benign	Het
Ezh1	A	G	11: 101,216,993		probably null	Het
Galnt6	C	A	15: 100,693,393	C610F	probably damaging	Het
Gata4	C	T	14: 63,240,626	A175T	probably benign	Het
Gcc1	A	T	6: 28,420,652	I222K	probably benign	Het
Gm13119	G	T	4: 144,362,471	E120*	probably null	Het
Gm5591	T	A	7: 38,522,207	H146L	probably benign	Het
H2-T23	C	T	17: 36,030,366		probably null	Het
Hmcn2	T	A	2: 31,414,716	I3124N	probably benign	Het
Hsf2	C	A	10: 57,506,221	D364E	probably benign	Het
Il15ra	A	G	2: 11,733,205	T250A	possibly damaging	Het
Large2	T	C	2: 92,367,142	E372G	probably benign	Het
Map2	A	G	1: 66,439,010		probably benign	Het
Med24	T	C	11: 98,710,783	Y524C	probably damaging	Het
Mfsd6l	C	A	11: 68,557,270	Q316K	probably benign	Het
Mroh6	T	C	15: 75,885,991	T417A	possibly damaging	Het
Mymk	T	C	2: 27,062,188	*181W	probably null	Het
Nup210l	A	G	3: 90,180,198	T1093A	probably benign	Het
Olfr120	T	A	17: 37,726,377	C118S	probably damaging	Het
Olfr692	A	T	7: 105,369,306	K327*	probably null	Het
Olfr796	A	G	10: 129,607,863	V206A	probably benign	Het
Olfr921	C	T	9: 38,775,956	R234W	probably damaging	Het
Papola	T	C	12: 105,826,960	V513A	probably benign	Het
Pex26	T	A	6: 121,185,847	L119Q	probably damaging	Het
Phldb2	T	C	16: 45,747,886	I1219V	probably damaging	Het
Plch2	A	G	4: 155,010,794	V64A	probably benign	Het
Plekho1	A	G	3: 95,995,625	V24A	probably damaging	Het
Pon2	A	C	6: 5,265,455	S311A	probably benign	Het
Rsrc2	T	C	5: 123,739,582		probably benign	Het
Selenov	T	C	7: 28,288,147	D295G	probably damaging	Het
Serpina10	T	A	12: 103,628,816	Y48F	probably benign	Het
Setbp1	T	A	18: 78,856,975	D1159V	possibly damaging	Het
Setx	C	T	2: 29,146,983	T1160I	probably benign	Het
Sin3b	A	C	8: 72,733,343		probably null	Het
Skint11	A	G	4: 114,244,845	K352E	possibly damaging	Het
Slitrk5	T	A	14: 111,681,686	V914E	possibly damaging	Het
Stard9	A	G	2: 120,699,358	D2032G	probably damaging	Het
Sv2c	G	A	13: 95,981,883	T486I	possibly damaging	Het
Tesk1	T	C	4: 43,447,100	F496S	probably damaging	Het
Tfg	T	A	16: 56,712,708	E29D	possibly damaging	Het
Tnc	G	A	4: 63,962,096	T2038I	probably damaging	Het
Tor4a	T	G	2: 25,194,964	N309T	probably damaging	Het
Trim69	A	G	2: 122,173,340	T257A	probably benign	Het
Trpm6	C	T	19: 18,813,464	A621V	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Vmn1r6	A	C	6: 57,003,194	Q258H	probably damaging	Het
Vmn2r84	A	G	10: 130,385,994	C786R	probably damaging	Het
Xylt2	T	C	11: 94,667,127	D638G	probably benign	Het
Zfp934	A	G	13: 62,517,838	C330R	probably damaging	Het

Other mutations in Srgap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01964:Srgap1	APN	10	121804966	missense	possibly damaging	0.81
IGL02106:Srgap1	APN	10	121785693	missense	possibly damaging	0.95
IGL02927:Srgap1	APN	10	121855462	missense	probably damaging	0.99
IGL03088:Srgap1	APN	10	121825693	missense	possibly damaging	0.94
IGL03208:Srgap1	APN	10	121792266	missense	possibly damaging	0.89
IGL03251:Srgap1	APN	10	121804921	splice site	probably null
PIT1430001:Srgap1	UTSW	10	121896753	splice site	probably benign
R0052:Srgap1	UTSW	10	121800827	missense	possibly damaging	0.94
R0052:Srgap1	UTSW	10	121800827	missense	possibly damaging	0.94
R0356:Srgap1	UTSW	10	121855536	splice site	probably null
R0361:Srgap1	UTSW	10	122047192	start codon destroyed	probably null	0.89
R0365:Srgap1	UTSW	10	121785705	missense	possibly damaging	0.80
R0675:Srgap1	UTSW	10	121792235	missense	probably damaging	1.00
R0801:Srgap1	UTSW	10	121807875	missense	probably damaging	0.96
R0815:Srgap1	UTSW	10	121785474	missense	probably damaging	0.99
R1034:Srgap1	UTSW	10	121785445	missense	possibly damaging	0.69
R1160:Srgap1	UTSW	10	121855477	missense	probably benign	0.01
R1454:Srgap1	UTSW	10	121896738	missense	probably damaging	0.99
R1624:Srgap1	UTSW	10	121855373	missense	probably benign	0.03
R1628:Srgap1	UTSW	10	121870339	missense	probably benign	0.15
R1816:Srgap1	UTSW	10	121925971	nonsense	probably null
R1933:Srgap1	UTSW	10	121925903	missense	possibly damaging	0.89
R2034:Srgap1	UTSW	10	121792746	missense	probably damaging	0.98
R2211:Srgap1	UTSW	10	121853740	missense	possibly damaging	0.55
R2295:Srgap1	UTSW	10	121794760	missense	probably benign	0.03
R2368:Srgap1	UTSW	10	121829289	missense	probably benign	0.05
R3796:Srgap1	UTSW	10	122047132	missense	probably benign	0.06
R4083:Srgap1	UTSW	10	121785690	missense	probably damaging	1.00
R4172:Srgap1	UTSW	10	121855363	missense	probably benign	0.00
R4322:Srgap1	UTSW	10	121869806	missense	probably damaging	1.00
R4401:Srgap1	UTSW	10	121804921	splice site	probably null
R4513:Srgap1	UTSW	10	121870326	critical splice donor site	probably null
R4698:Srgap1	UTSW	10	121792487	missense	probably benign	0.22
R4776:Srgap1	UTSW	10	121792351	missense	probably benign	0.03
R4951:Srgap1	UTSW	10	121785552	missense	probably benign	0.20
R5116:Srgap1	UTSW	10	121792379	missense	possibly damaging	0.77
R5232:Srgap1	UTSW	10	121840911	missense	probably benign	0.00
R5335:Srgap1	UTSW	10	121785377	utr 3 prime	probably benign
R5402:Srgap1	UTSW	10	121785760	missense	probably benign	0.06
R5432:Srgap1	UTSW	10	121869823	missense	probably damaging	1.00
R5456:Srgap1	UTSW	10	121869811	missense	probably benign	0.45
R5669:Srgap1	UTSW	10	121804850	missense	probably benign	0.00
R5682:Srgap1	UTSW	10	121805014	missense	probably damaging	1.00
R5687:Srgap1	UTSW	10	121825636	missense	probably damaging	1.00
R5773:Srgap1	UTSW	10	121896709	missense	probably benign	0.02
R5832:Srgap1	UTSW	10	121840914	missense	probably damaging	1.00
R6028:Srgap1	UTSW	10	121828730	missense	probably null
R6240:Srgap1	UTSW	10	122047156	missense	probably benign	0.06
R6336:Srgap1	UTSW	10	121925941	missense	probably benign	0.01
R6435:Srgap1	UTSW	10	121800827	missense	possibly damaging	0.94
R6597:Srgap1	UTSW	10	121792371	missense	probably benign	0.11
R6798:Srgap1	UTSW	10	121925904	missense	probably damaging	1.00
R6807:Srgap1	UTSW	10	121828726	splice site	probably null
R6897:Srgap1	UTSW	10	121785618	missense	probably damaging	0.96
R7057:Srgap1	UTSW	10	121804953	missense	probably benign	0.20
R7196:Srgap1	UTSW	10	121840848	missense	probably benign	0.00
R7247:Srgap1	UTSW	10	121869790	missense	probably damaging	0.98
R7404:Srgap1	UTSW	10	121785745	missense	probably benign	0.18
R7467:Srgap1	UTSW	10	121855439	nonsense	probably null
R7792:Srgap1	UTSW	10	121925967	missense	probably damaging	0.98
R7846:Srgap1	UTSW	10	121785492	missense	probably damaging	0.97
R7896:Srgap1	UTSW	10	121853553	critical splice donor site	probably benign
R7912:Srgap1	UTSW	10	121853553	critical splice donor site	probably benign
R8127:Srgap1	UTSW	10	121855366	missense	probably null	0.04
R8233:Srgap1	UTSW	10	121825436	missense	probably damaging	1.00
R8248:Srgap1	UTSW	10	121804817	missense	probably damaging	0.99
R8362:Srgap1	UTSW	10	121855478	missense	possibly damaging	0.46
X0063:Srgap1	UTSW	10	121785412	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGCCACAGTTACGCTATCTAG -3'
(R):5'- CAAGGTGTTGCTGCGAATGC -3'

Sequencing Primer
(F):5'- GCCACAGTTACGCTATCTAGAGTAG -3'
(R):5'- CGAATGCTGGGGTGTATCC -3'

Posted On

2016-07-06