Mutagenetix > Incidental Mutation

Incidental Mutation 'R5232:Srgap1'

398621

Institutional Source

Beutler Lab

Gene Symbol

Srgap1

Ensembl Gene

ENSMUSG00000020121

Gene Name

SLIT-ROBO Rho GTPase activating protein 1

Synonyms

Arhgap13, 4930572H05Rik

MMRRC Submission

042804-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.232) question?

Stock #

R5232 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121616896-121883220 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121676816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 393 (I393V)

Ref Sequence

ENSEMBL: ENSMUSP00000080389 (fasta)

Gene Model

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

AlphaFold

Q91Z69

Predicted Effect

probably benign
Transcript: ENSMUST00000020322
AA Change: I393V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020322
Gene: ENSMUSG00000020121
AA Change: I393V

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: I393V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121
AA Change: I393V

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	C	16: 20,157,672 (GRCm39)	E1295G	probably damaging	Het
Adarb2	C	A	13: 8,763,676 (GRCm39)	H524Q	possibly damaging	Het
Arhgap26	A	G	18: 39,126,529 (GRCm39)	M1V	probably null	Het
Atp10b	G	A	11: 43,093,006 (GRCm39)	R447H	probably damaging	Het
B4galnt3	T	A	6: 120,209,949 (GRCm39)	Y58F	probably damaging	Het
Cdca7l	A	G	12: 117,833,820 (GRCm39)	E79G	probably damaging	Het
Chd4	C	G	6: 125,098,273 (GRCm39)	P350A	probably damaging	Het
Coq2	G	A	5: 100,805,698 (GRCm39)	H313Y	possibly damaging	Het
Cubn	A	T	2: 13,483,013 (GRCm39)	C244*	probably null	Het
Cyfip2	A	G	11: 46,133,205 (GRCm39)	S832P	probably damaging	Het
Dnaaf1	A	C	8: 120,317,329 (GRCm39)	E286A	probably benign	Het
Emilin1	A	G	5: 31,074,323 (GRCm39)	K188R	probably benign	Het
Fstl5	T	C	3: 76,052,284 (GRCm39)	W5R	possibly damaging	Het
Gm5565	T	A	5: 146,096,947 (GRCm39)	Y64F	possibly damaging	Het
Golga4	G	A	9: 118,335,626 (GRCm39)		probably null	Het
Hmcn2	T	C	2: 31,347,760 (GRCm39)	L4802P	probably damaging	Het
Hnrnpll	C	T	17: 80,346,107 (GRCm39)	V385I	probably damaging	Het
Kctd9	A	T	14: 67,962,110 (GRCm39)	D51V	probably damaging	Het
Lcn9	T	C	2: 25,714,067 (GRCm39)		probably null	Het
Map1a	C	A	2: 121,132,466 (GRCm39)	P856H	probably damaging	Het
Myo5b	G	C	18: 74,848,003 (GRCm39)	E1080D	probably damaging	Het
Naglu	T	C	11: 100,960,976 (GRCm39)	I9T	probably benign	Het
Ndst3	A	T	3: 123,465,888 (GRCm39)	I28N	probably damaging	Het
Olfm4	A	G	14: 80,259,122 (GRCm39)	N424D	probably damaging	Het
Or11g26	T	A	14: 50,753,495 (GRCm39)	V278E	probably damaging	Het
Or4n5	A	G	14: 50,133,155 (GRCm39)	Y35H	probably damaging	Het
Phf13	T	C	4: 152,076,680 (GRCm39)	T171A	probably damaging	Het
Plk3	A	G	4: 116,986,317 (GRCm39)	V605A	probably benign	Het
Polr3a	A	T	14: 24,503,279 (GRCm39)	M1185K	probably benign	Het
Pramel7	A	T	2: 87,320,320 (GRCm39)	H324Q	probably damaging	Het
Prpf4b	T	A	13: 35,067,573 (GRCm39)		probably benign	Het
Pxdn	C	T	12: 30,040,987 (GRCm39)	T421I	probably benign	Het
Sertad2	C	T	11: 20,598,344 (GRCm39)	T180I	possibly damaging	Het
Sgo2b	C	A	8: 64,381,636 (GRCm39)	A399S	possibly damaging	Het
Skint5	T	C	4: 113,434,841 (GRCm39)	K1043E	unknown	Het
Slc22a27	C	G	19: 7,843,303 (GRCm39)	A359P	probably damaging	Het
Spock3	T	C	8: 63,798,843 (GRCm39)	F288S	probably damaging	Het
Taf6	T	C	5: 138,178,214 (GRCm39)	K429R	possibly damaging	Het
Vav1	T	C	17: 57,610,846 (GRCm39)	F447L	possibly damaging	Het
Vmn2r19	T	C	6: 123,312,916 (GRCm39)	M662T	probably benign	Het
Zfp541	A	G	7: 15,829,104 (GRCm39)	Y1152C	probably damaging	Het

Other mutations in Srgap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01964:Srgap1	APN	10	121,640,871 (GRCm39)	missense	possibly damaging	0.81
IGL02106:Srgap1	APN	10	121,621,598 (GRCm39)	missense	possibly damaging	0.95
IGL02927:Srgap1	APN	10	121,691,367 (GRCm39)	missense	probably damaging	0.99
IGL03088:Srgap1	APN	10	121,661,598 (GRCm39)	missense	possibly damaging	0.94
IGL03208:Srgap1	APN	10	121,628,171 (GRCm39)	missense	possibly damaging	0.89
IGL03251:Srgap1	APN	10	121,640,826 (GRCm39)	splice site	probably null
PIT1430001:Srgap1	UTSW	10	121,732,658 (GRCm39)	splice site	probably benign
R0052:Srgap1	UTSW	10	121,636,732 (GRCm39)	missense	possibly damaging	0.94
R0052:Srgap1	UTSW	10	121,636,732 (GRCm39)	missense	possibly damaging	0.94
R0356:Srgap1	UTSW	10	121,691,441 (GRCm39)	splice site	probably null
R0361:Srgap1	UTSW	10	121,883,097 (GRCm39)	start codon destroyed	probably null	0.89
R0365:Srgap1	UTSW	10	121,621,610 (GRCm39)	missense	possibly damaging	0.80
R0675:Srgap1	UTSW	10	121,628,140 (GRCm39)	missense	probably damaging	1.00
R0801:Srgap1	UTSW	10	121,643,780 (GRCm39)	missense	probably damaging	0.96
R0815:Srgap1	UTSW	10	121,621,379 (GRCm39)	missense	probably damaging	0.99
R1034:Srgap1	UTSW	10	121,621,350 (GRCm39)	missense	possibly damaging	0.69
R1160:Srgap1	UTSW	10	121,691,382 (GRCm39)	missense	probably benign	0.01
R1454:Srgap1	UTSW	10	121,732,643 (GRCm39)	missense	probably damaging	0.99
R1624:Srgap1	UTSW	10	121,691,278 (GRCm39)	missense	probably benign	0.03
R1628:Srgap1	UTSW	10	121,706,244 (GRCm39)	missense	probably benign	0.15
R1816:Srgap1	UTSW	10	121,761,876 (GRCm39)	nonsense	probably null
R1933:Srgap1	UTSW	10	121,761,808 (GRCm39)	missense	possibly damaging	0.89
R2034:Srgap1	UTSW	10	121,628,651 (GRCm39)	missense	probably damaging	0.98
R2211:Srgap1	UTSW	10	121,689,645 (GRCm39)	missense	possibly damaging	0.55
R2295:Srgap1	UTSW	10	121,630,665 (GRCm39)	missense	probably benign	0.03
R2368:Srgap1	UTSW	10	121,665,194 (GRCm39)	missense	probably benign	0.05
R3796:Srgap1	UTSW	10	121,883,037 (GRCm39)	missense	probably benign	0.06
R4083:Srgap1	UTSW	10	121,621,595 (GRCm39)	missense	probably damaging	1.00
R4172:Srgap1	UTSW	10	121,691,268 (GRCm39)	missense	probably benign	0.00
R4322:Srgap1	UTSW	10	121,705,711 (GRCm39)	missense	probably damaging	1.00
R4401:Srgap1	UTSW	10	121,640,826 (GRCm39)	splice site	probably null
R4513:Srgap1	UTSW	10	121,706,231 (GRCm39)	critical splice donor site	probably null
R4698:Srgap1	UTSW	10	121,628,392 (GRCm39)	missense	probably benign	0.22
R4776:Srgap1	UTSW	10	121,628,256 (GRCm39)	missense	probably benign	0.03
R4951:Srgap1	UTSW	10	121,621,457 (GRCm39)	missense	probably benign	0.20
R5116:Srgap1	UTSW	10	121,628,284 (GRCm39)	missense	possibly damaging	0.77
R5237:Srgap1	UTSW	10	121,643,788 (GRCm39)	missense	probably damaging	1.00
R5335:Srgap1	UTSW	10	121,621,282 (GRCm39)	utr 3 prime	probably benign
R5402:Srgap1	UTSW	10	121,621,665 (GRCm39)	missense	probably benign	0.06
R5432:Srgap1	UTSW	10	121,705,728 (GRCm39)	missense	probably damaging	1.00
R5456:Srgap1	UTSW	10	121,705,716 (GRCm39)	missense	probably benign	0.45
R5669:Srgap1	UTSW	10	121,640,755 (GRCm39)	missense	probably benign	0.00
R5682:Srgap1	UTSW	10	121,640,919 (GRCm39)	missense	probably damaging	1.00
R5687:Srgap1	UTSW	10	121,661,541 (GRCm39)	missense	probably damaging	1.00
R5773:Srgap1	UTSW	10	121,732,614 (GRCm39)	missense	probably benign	0.02
R5832:Srgap1	UTSW	10	121,676,819 (GRCm39)	missense	probably damaging	1.00
R6028:Srgap1	UTSW	10	121,664,635 (GRCm39)	missense	probably null
R6240:Srgap1	UTSW	10	121,883,061 (GRCm39)	missense	probably benign	0.06
R6336:Srgap1	UTSW	10	121,761,846 (GRCm39)	missense	probably benign	0.01
R6435:Srgap1	UTSW	10	121,636,732 (GRCm39)	missense	possibly damaging	0.94
R6597:Srgap1	UTSW	10	121,628,276 (GRCm39)	missense	probably benign	0.11
R6798:Srgap1	UTSW	10	121,761,809 (GRCm39)	missense	probably damaging	1.00
R6807:Srgap1	UTSW	10	121,664,631 (GRCm39)	splice site	probably null
R6897:Srgap1	UTSW	10	121,621,523 (GRCm39)	missense	probably damaging	0.96
R7057:Srgap1	UTSW	10	121,640,858 (GRCm39)	missense	probably benign	0.20
R7196:Srgap1	UTSW	10	121,676,753 (GRCm39)	missense	probably benign	0.00
R7247:Srgap1	UTSW	10	121,705,695 (GRCm39)	missense	probably damaging	0.98
R7404:Srgap1	UTSW	10	121,621,650 (GRCm39)	missense	probably benign	0.18
R7467:Srgap1	UTSW	10	121,691,344 (GRCm39)	nonsense	probably null
R7792:Srgap1	UTSW	10	121,761,872 (GRCm39)	missense	probably damaging	0.98
R7846:Srgap1	UTSW	10	121,621,397 (GRCm39)	missense	probably damaging	0.97
R7896:Srgap1	UTSW	10	121,689,458 (GRCm39)	critical splice donor site	probably benign
R7912:Srgap1	UTSW	10	121,689,458 (GRCm39)	critical splice donor site	probably benign
R8127:Srgap1	UTSW	10	121,691,271 (GRCm39)	missense	probably null	0.04
R8233:Srgap1	UTSW	10	121,661,341 (GRCm39)	missense	probably damaging	1.00
R8248:Srgap1	UTSW	10	121,640,722 (GRCm39)	missense	probably damaging	0.99
R8362:Srgap1	UTSW	10	121,691,383 (GRCm39)	missense	possibly damaging	0.46
R8885:Srgap1	UTSW	10	121,761,545 (GRCm39)	intron	probably benign
R9074:Srgap1	UTSW	10	121,628,257 (GRCm39)	missense	probably damaging	0.99
R9134:Srgap1	UTSW	10	121,883,127 (GRCm39)	start gained	probably benign
R9338:Srgap1	UTSW	10	121,689,458 (GRCm39)	critical splice donor site	probably benign
R9437:Srgap1	UTSW	10	121,636,777 (GRCm39)	missense	probably benign	0.18
R9629:Srgap1	UTSW	10	121,705,746 (GRCm39)	missense	probably benign	0.06
R9747:Srgap1	UTSW	10	121,761,771 (GRCm39)	missense	probably damaging	1.00
R9747:Srgap1	UTSW	10	121,628,579 (GRCm39)	missense	probably benign
X0063:Srgap1	UTSW	10	121,621,317 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TCCCAGGCTCTGTCAAGA -3'
(R):5'- CACTCTGTAACTGCCACTCTG -3'

Sequencing Primer
(F):5'- TCTGTCAAGAGAGGCTGGG -3'
(R):5'- AAGGTACCAGCCTCTTAGCTTAACTG -3'

Posted On

2016-07-06