Mutagenetix > Incidental Mutations

Incidental Mutation 'R6897:Srgap1'

538405

Institutional Source

Beutler Lab

Gene Symbol

Srgap1

Ensembl Gene

ENSMUSG00000020121

Gene Name

SLIT-ROBO Rho GTPase activating protein 1

Synonyms

Arhgap13, 4930572H05Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.269) question?

Stock #

R6897 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121780991-122047315 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121785618 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 990 (H990L)

Ref Sequence

ENSEMBL: ENSMUSP00000020322 (fasta)

Gene Model

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

PDB Structure

Crystal structure of srGAP1 SH3 domain in the slit-robo signaling pathway [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000020322
AA Change: H990L

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020322
Gene: ENSMUSG00000020121
AA Change: H990L

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

possibly damaging
Transcript: ENSMUST00000081688
AA Change: H1013L

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121
AA Change: H1013L

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

Meta Mutation Damage Score

0.0801

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

97% (72/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	T	A	6: 50,589,165	Q110L	possibly damaging	Het
4930579F01Rik	T	C	3: 138,183,773	I28V	possibly damaging	Het
Adamts2	A	T	11: 50,737,164		probably null	Het
Adgrg1	T	C	8: 95,002,498	F17L	probably benign	Het
Aldob	A	G	4: 49,539,789	L183P	probably damaging	Het
Alg5	T	C	3: 54,748,642	C270R	probably benign	Het
Anxa4	T	A	6: 86,743,178		probably null	Het
Armc2	C	A	10: 41,993,229		probably null	Het
Atrnl1	A	G	19: 58,042,368	N1314S	probably benign	Het
Bbs7	T	A	3: 36,598,311	E331V	probably benign	Het
Bmper	T	A	9: 23,373,929	V258E	probably benign	Het
Catspere2	A	T	1: 178,111,573	I671F	possibly damaging	Het
Cd101	A	G	3: 101,013,060	S508P	probably damaging	Het
Cd177	C	T	7: 24,745,074	R694H	probably benign	Het
Clptm1	C	A	7: 19,635,826	Q386H	possibly damaging	Het
Cnrip1	A	G	11: 17,054,705	Y85C	probably damaging	Het
Dclk2	A	T	3: 86,831,763	F310I	probably benign	Het
Dmxl1	A	G	18: 49,851,495	K186R	probably null	Het
Dmxl1	C	A	18: 49,863,057	Q417K	possibly damaging	Het
Eloa	T	C	4: 136,012,909	D67G	possibly damaging	Het
Elovl4	T	C	9: 83,783,225	I103V	probably benign	Het
Gabpa	C	G	16: 84,860,473	A412G	probably benign	Het
Gldn	T	A	9: 54,334,874		probably null	Het
Ino80d	A	T	1: 63,065,834	I361N	probably damaging	Het
Kalrn	G	A	16: 33,975,703	T1234M	probably damaging	Het
Kcnk13	T	A	12: 100,061,767	M367K	probably benign	Het
Klrd1	G	A	6: 129,593,505	R8Q	possibly damaging	Het
Kmt2a	T	C	9: 44,847,645	N969S	probably benign	Het
Lgi4	A	G	7: 31,068,890	D438G	probably benign	Het
Lig1	T	C	7: 13,305,914	L684P	probably damaging	Het
Lrp2	T	C	2: 69,510,502	M1010V	probably benign	Het
Magi3	C	A	3: 104,089,557	R224I	probably damaging	Het
Mier2	T	C	10: 79,544,739	N277S	probably damaging	Het
Morn1	A	G	4: 155,086,655	H17R	probably benign	Het
Nf2	A	T	11: 4,799,878	S265T	probably damaging	Het
Olfr1029	A	G	2: 85,975,356	T38A	possibly damaging	Het
Olfr1058	G	A	2: 86,385,680	T246I	possibly damaging	Het
Palb2	A	G	7: 122,127,047		probably null	Het
Pdzd2	C	T	15: 12,385,865	V940M	probably damaging	Het
Phldb2	T	C	16: 45,777,775	K850E	probably damaging	Het
Pitx1	G	A	13: 55,828,522	T108M	probably damaging	Het
Polr2a	C	T	11: 69,735,961	A1516T	probably benign	Het
Pomp	T	A	5: 147,875,503	M133K	possibly damaging	Het
Prex1	T	C	2: 166,581,993	E993G	probably damaging	Het
Prrc2c	C	A	1: 162,705,506		probably benign	Het
Pwp2	C	A	10: 78,172,083	Q879H	probably damaging	Het
Rab26	G	A	17: 24,529,792	T245I	probably damaging	Het
Rapgef1	A	G	2: 29,702,502	D502G	probably damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906		probably benign	Het
Sema5a	T	A	15: 32,550,275	D153E	probably benign	Het
Sez6	C	G	11: 77,953,559	H69Q	probably damaging	Het
Sgsm3	A	T	15: 81,008,894	T391S	probably benign	Het
Sh3rf2	T	C	18: 42,101,605	V151A	possibly damaging	Het
Socs1	G	T	16: 10,784,402	A157E	probably benign	Het
Sptbn4	C	A	7: 27,371,950	V346L	possibly damaging	Het
Tbc1d9	G	T	8: 83,166,180	G36W	probably damaging	Het
Tbk1	T	C	10: 121,559,877	E437G	probably benign	Het
Tns3	A	G	11: 8,531,743	L203P	probably damaging	Het
Tspoap1	A	T	11: 87,765,812	K283M	probably damaging	Het
Ttyh1	C	T	7: 4,124,650		probably benign	Het
Ufd1	T	A	16: 18,827,100	I254N	probably benign	Het
Ugdh	T	G	5: 65,427,433	T49P	probably benign	Het
Vav3	T	C	3: 109,527,494	L447P	probably damaging	Het
Vmn1r216	A	T	13: 23,099,275	K43*	probably null	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r13	A	G	5: 109,158,149	I521T	possibly damaging	Het
Wdfy3	T	C	5: 101,844,066	T3470A	probably benign	Het
Wdhd1	T	A	14: 47,248,130	K791N	probably damaging	Het
Xirp2	A	G	2: 67,508,567	D384G	probably damaging	Het
Zfp512b	C	T	2: 181,590,480	R86Q	probably damaging	Het
Zfp735	A	C	11: 73,711,054	I275L	probably benign	Het
Zfp957	A	T	14: 79,213,904	S152T	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
R5237:Srgap1	UTSW	10	121807883	missense	probably damaging	1.00
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
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'- AAGACTTGTCTGTGGGACCC -3'
(R):5'- ACCCTGTGGACAGACTGTAAAG -3'

Sequencing Primer
(F):5'- TCTGTGGGACCCTGGGAAG -3'
(R):5'- CCTGTGGACAGACTGTAAAGTTCAAG -3'

Posted On

2018-11-06