Mutagenetix > Incidental Mutations

Incidental Mutation 'R5402:Srgap1'

430053

Institutional Source

Beutler Lab

Gene Symbol

Srgap1

Ensembl Gene

ENSMUSG00000020121

Gene Name

SLIT-ROBO Rho GTPase activating protein 1

Synonyms

Arhgap13, 4930572H05Rik

MMRRC Submission

042973-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5402 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121780991-122047315 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121785760 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 966 (M966V)

Ref Sequence

ENSEMBL: ENSMUSP00000080389 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000020322
AA Change: M943V

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000020322
Gene: ENSMUSG00000020121
AA Change: M943V

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 benign
Transcript: ENSMUST00000081688
AA Change: M966V

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121
AA Change: M966V

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

noncoding transcript
Transcript: ENSMUST00000161996

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188932

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,459,715	D4079E	probably benign	Het
Bcar1	T	C	8: 111,714,330	D344G	probably damaging	Het
Car9	A	G	4: 43,510,213	N265S	probably damaging	Het
Ccr7	A	G	11: 99,145,734	S121P	possibly damaging	Het
Cgnl1	A	G	9: 71,629,321	L1278P	probably damaging	Het
Chst9	A	T	18: 15,452,815	S230R	probably damaging	Het
Cped1	G	A	6: 22,143,952	V566M	probably benign	Het
Csf2	A	T	11: 54,247,663	Y117*	probably null	Het
Cwf19l1	C	T	19: 44,133,085		probably null	Het
Cyp2d34	C	T	15: 82,619,086	G69D	probably damaging	Het
Dync2h1	A	T	9: 7,114,949	V170E	probably damaging	Het
Ehbp1l1	T	A	19: 5,716,320	T388S	possibly damaging	Het
Etfa	T	C	9: 55,454,739	I329M	probably benign	Het
Flt4	AC	ACC	11: 49,651,034		probably null	Het
Fmnl2	G	A	2: 53,128,782	V1078I	probably damaging	Het
Fnip2	A	G	3: 79,480,943	L797P	possibly damaging	Het
Gm10130	A	G	2: 150,362,966	I67V	probably benign	Het
Gm13103	G	A	4: 143,851,655		probably null	Het
Gmeb2	A	T	2: 181,255,957		probably null	Het
Greb1l	A	G	18: 10,537,169	T1045A	probably benign	Het
Hapln1	A	G	13: 89,605,411	N232S	probably benign	Het
Hibadh	A	T	6: 52,546,980	M311K	probably benign	Het
Hus1	C	T	11: 9,010,240		probably null	Het
Il31ra	T	C	13: 112,524,135	E640G	probably benign	Het
L3mbtl4	T	C	17: 68,455,774	F101L	probably damaging	Het
Lbr	A	T	1: 181,819,961	M417K	probably benign	Het
Lrig3	T	G	10: 126,008,740	L691R	probably damaging	Het
Mcm3ap	T	A	10: 76,483,314	F792Y	probably benign	Het
Mst1	T	C	9: 108,084,209		probably null	Het
Nova2	C	A	7: 18,958,446	T500K	probably damaging	Het
Nxph4	A	T	10: 127,526,264	C253S	probably damaging	Het
Olfr1193	T	A	2: 88,678,148	S98T	possibly damaging	Het
Olfr31	T	C	14: 14,328,878	Y256H	probably damaging	Het
Pcdhga3	G	A	18: 37,675,694	R400Q	probably benign	Het
Pidd1	C	A	7: 141,438,594	A915S	probably damaging	Het
Plat	T	G	8: 22,772,722	W148G	probably damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ptdss1	A	G	13: 66,933,599	D31G	possibly damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Samd8	A	G	14: 21,775,168	D64G	probably damaging	Het
Scgb1b20	A	G	7: 33,373,231		probably null	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc25a23	T	C	17: 57,053,336	I269V	probably benign	Het
Slc35f4	A	T	14: 49,318,874	S141T	probably damaging	Het
Syne2	T	A	12: 76,059,439	V5526E	probably damaging	Het
Tcaf3	A	G	6: 42,591,926	S596P	probably benign	Het
Tg	T	A	15: 66,739,168	I356N	probably damaging	Het
Ttc6	C	T	12: 57,737,031	R1759*	probably null	Het
Wdsub1	T	C	2: 59,870,478	N138D	probably benign	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
R5237:Srgap1	UTSW	10	121807883	missense	probably damaging	1.00
R5335:Srgap1	UTSW	10	121785377	utr 3 prime	probably benign
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'- GAAAGTACTCATTGTCTCGCTGG -3'
(R):5'- CCATGTGCGTTGCTTCTAAG -3'

Sequencing Primer
(F):5'- ACTCATTGTCTCGCTGGAGGAG -3'
(R):5'- GTCTCCAGATCATTTAGAGTCAACC -3'

Posted On

2016-09-06