Mutagenetix > Incidental Mutation

Incidental Mutation 'R5659:Arhgap32'

443983

Institutional Source

Beutler Lab

Gene Symbol

Arhgap32

Ensembl Gene

ENSMUSG00000041444

Gene Name

Rho GTPase activating protein 32

Synonyms

p200RhoGAP, Grit, PX-RICS, GC-GAP, 3426406O18Rik

MMRRC Submission

043303-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5659 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32027432-32179742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32093256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 178 (V178D)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000174641]

AlphaFold

Q811P8

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174314

Predicted Effect

probably benign
Transcript: ENSMUST00000174641
AA Change: V203D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000133898
Gene: ENSMUSG00000041444
AA Change: V203D

Domain	Start	End	E-Value	Type
Pfam:PX	132	226	5.6e-7	PFAM
SH3	262	320	7.4e-11	SMART
RhoGAP	383	564	9.6e-60	SMART
Blast:RhoGAP	581	647	9e-31	BLAST
low complexity region	867	882	N/A	INTRINSIC
low complexity region	1018	1038	N/A	INTRINSIC
low complexity region	1045	1059	N/A	INTRINSIC
low complexity region	1262	1275	N/A	INTRINSIC
low complexity region	1309	1323	N/A	INTRINSIC
low complexity region	1346	1357	N/A	INTRINSIC
low complexity region	1425	1442	N/A	INTRINSIC
low complexity region	1653	1666	N/A	INTRINSIC
low complexity region	2040	2049	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000182310
AA Change: V178D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null mutation are fertile but display abnormal neurite growth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	T	C	18: 36,694,103 (GRCm39)	S105P	probably damaging	Het
Ano5	G	A	7: 51,233,562 (GRCm39)	R658H	possibly damaging	Het
Ap3b2	T	A	7: 81,126,500 (GRCm39)	I367F	probably damaging	Het
Apaf1	A	T	10: 90,898,015 (GRCm39)	C247*	probably null	Het
Aqp8	G	A	7: 123,065,889 (GRCm39)	W228*	probably null	Het
Atp10b	T	A	11: 43,136,252 (GRCm39)	W1127R	probably damaging	Het
Bcl6	A	T	16: 23,787,159 (GRCm39)	C580*	probably null	Het
Brd1	T	C	15: 88,597,584 (GRCm39)	T568A	probably benign	Het
Brsk1	C	T	7: 4,718,371 (GRCm39)	P665L	possibly damaging	Het
Cblc	A	G	7: 19,526,857 (GRCm39)	L125P	probably damaging	Het
Ccdc87	T	C	19: 4,890,878 (GRCm39)	S457P	probably damaging	Het
Cxcr5	C	T	9: 44,424,690 (GRCm39)	M322I	probably benign	Het
Cyb5r4	T	A	9: 86,937,881 (GRCm39)	F300Y	probably benign	Het
Cyp3a25	T	C	5: 145,928,356 (GRCm39)	T230A	possibly damaging	Het
Dhx9	A	G	1: 153,347,481 (GRCm39)	V409A	probably damaging	Het
Dnah7b	A	G	1: 46,392,009 (GRCm39)	D3790G	probably damaging	Het
Gin1	A	G	1: 97,703,257 (GRCm39)	T27A	possibly damaging	Het
Gipc1	A	T	8: 84,390,755 (GRCm39)	M287L	probably benign	Het
Kat6a	T	A	8: 23,428,176 (GRCm39)	L1177*	probably null	Het
Klhl20	A	G	1: 160,918,040 (GRCm39)	V82A	probably damaging	Het
Kmt2e	T	C	5: 23,702,805 (GRCm39)	I995T	probably damaging	Het
Lpin1	A	T	12: 16,590,990 (GRCm39)	V814E	probably damaging	Het
Luzp1	T	A	4: 136,269,787 (GRCm39)	V670D	probably damaging	Het
Lyst	C	A	13: 13,809,212 (GRCm39)	A294E	possibly damaging	Het
Olr1	T	A	6: 129,476,992 (GRCm39)	E91V	probably damaging	Het
Or1j1	A	T	2: 36,702,966 (GRCm39)	I46N	probably damaging	Het
Or2k2	A	T	4: 58,785,672 (GRCm39)	F17I	probably damaging	Het
Or8b55	C	T	9: 38,727,072 (GRCm39)	T91I	probably benign	Het
Pam	T	C	1: 97,770,024 (GRCm39)	Y476C	probably damaging	Het
Pcdhac1	T	C	18: 37,225,470 (GRCm39)	L761P	probably damaging	Het
Phf21b	C	T	15: 84,678,101 (GRCm39)	W300*	probably null	Het
Pld2	T	C	11: 70,448,387 (GRCm39)	*945Q	probably null	Het
Ppp1r37	C	T	7: 19,269,448 (GRCm39)	V145M	probably damaging	Het
Rasgrf1	T	A	9: 89,866,342 (GRCm39)	N593K	probably damaging	Het
Rhot1	T	G	11: 80,141,181 (GRCm39)		probably null	Het
Rmnd1	A	T	10: 4,377,382 (GRCm39)	M99K	probably benign	Het
Ros1	G	A	10: 52,019,482 (GRCm39)	T697I	possibly damaging	Het
Scgb1b10	G	T	7: 31,800,303 (GRCm39)	A4S	probably benign	Het
Shc3	T	C	13: 51,670,630 (GRCm39)	Y39C	probably damaging	Het
Slc25a23	A	G	17: 57,352,500 (GRCm39)		probably benign	Het
Slc5a8	C	T	10: 88,755,290 (GRCm39)	L466F	possibly damaging	Het
Sqor	G	A	2: 122,629,523 (GRCm39)	C127Y	probably benign	Het
Sv2a	G	C	3: 96,097,619 (GRCm39)	W467S	possibly damaging	Het
Togaram2	G	T	17: 71,994,667 (GRCm39)	D39Y	probably damaging	Het
Tspan11	T	A	6: 127,915,240 (GRCm39)		probably null	Het
Usp32	A	G	11: 84,968,240 (GRCm39)	V141A	possibly damaging	Het
Zbtb38	T	C	9: 96,569,473 (GRCm39)	H537R	probably damaging	Het
Zfat	T	C	15: 67,990,862 (GRCm39)	Y1008C	probably damaging	Het
Zfp637	G	A	6: 117,820,291 (GRCm39)	G3E	probably damaging	Het
Zfp788	T	A	7: 41,299,540 (GRCm39)	Y673*	probably null	Het
Zhx2	T	C	15: 57,685,704 (GRCm39)	S358P	probably benign	Het

Other mutations in Arhgap32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Arhgap32	APN	9	32,168,657 (GRCm39)	missense	probably benign	0.00
IGL01317:Arhgap32	APN	9	32,168,260 (GRCm39)	missense	probably benign	0.30
IGL01614:Arhgap32	APN	9	32,171,801 (GRCm39)	missense	probably damaging	1.00
IGL01791:Arhgap32	APN	9	32,158,486 (GRCm39)	missense	probably damaging	0.96
IGL02318:Arhgap32	APN	9	32,170,627 (GRCm39)	missense	probably benign	0.00
IGL02542:Arhgap32	APN	9	32,166,944 (GRCm39)	missense	probably damaging	1.00
IGL02568:Arhgap32	APN	9	32,158,490 (GRCm39)	missense	probably damaging	1.00
IGL02627:Arhgap32	APN	9	32,157,302 (GRCm39)	missense	probably damaging	1.00
IGL02927:Arhgap32	APN	9	32,172,431 (GRCm39)	missense	possibly damaging	0.95
IGL03157:Arhgap32	APN	9	32,170,430 (GRCm39)	missense	probably damaging	1.00
IGL03286:Arhgap32	APN	9	32,170,816 (GRCm39)	missense	probably benign	0.06
PIT4445001:Arhgap32	UTSW	9	32,172,152 (GRCm39)	missense	probably damaging	1.00
R0004:Arhgap32	UTSW	9	32,063,294 (GRCm39)	missense	probably damaging	0.98
R0335:Arhgap32	UTSW	9	32,171,056 (GRCm39)	missense	probably benign	0.00
R0380:Arhgap32	UTSW	9	32,157,773 (GRCm39)	missense	probably damaging	1.00
R0396:Arhgap32	UTSW	9	32,156,551 (GRCm39)	critical splice donor site	probably null
R0494:Arhgap32	UTSW	9	32,170,199 (GRCm39)	missense	probably damaging	0.98
R0508:Arhgap32	UTSW	9	32,101,364 (GRCm39)	splice site	probably benign
R0856:Arhgap32	UTSW	9	32,171,516 (GRCm39)	missense	probably damaging	1.00
R0990:Arhgap32	UTSW	9	32,166,677 (GRCm39)	missense	probably damaging	1.00
R1312:Arhgap32	UTSW	9	32,166,608 (GRCm39)	missense	probably benign
R1455:Arhgap32	UTSW	9	32,171,381 (GRCm39)	missense	probably benign	0.08
R1515:Arhgap32	UTSW	9	32,027,498 (GRCm39)	missense	probably benign
R1523:Arhgap32	UTSW	9	32,168,048 (GRCm39)	missense	probably damaging	1.00
R1651:Arhgap32	UTSW	9	32,171,096 (GRCm39)	missense	probably damaging	1.00
R1743:Arhgap32	UTSW	9	32,170,727 (GRCm39)	missense	probably benign	0.00
R1999:Arhgap32	UTSW	9	32,027,436 (GRCm39)	missense	possibly damaging	0.52
R2098:Arhgap32	UTSW	9	32,171,207 (GRCm39)	missense	probably damaging	1.00
R2150:Arhgap32	UTSW	9	32,027,436 (GRCm39)	missense	possibly damaging	0.52
R2256:Arhgap32	UTSW	9	32,158,793 (GRCm39)	missense	probably damaging	0.99
R2257:Arhgap32	UTSW	9	32,158,793 (GRCm39)	missense	probably damaging	0.99
R2989:Arhgap32	UTSW	9	32,150,694 (GRCm39)	missense	possibly damaging	0.54
R3780:Arhgap32	UTSW	9	32,063,315 (GRCm39)	splice site	probably null
R3793:Arhgap32	UTSW	9	32,166,669 (GRCm39)	missense	probably damaging	1.00
R3846:Arhgap32	UTSW	9	32,101,320 (GRCm39)	missense	probably benign	0.03
R4086:Arhgap32	UTSW	9	32,158,362 (GRCm39)	unclassified	probably benign
R4177:Arhgap32	UTSW	9	32,158,510 (GRCm39)	missense	probably null	1.00
R4230:Arhgap32	UTSW	9	32,168,770 (GRCm39)	missense	probably benign	0.10
R4280:Arhgap32	UTSW	9	32,171,185 (GRCm39)	missense	probably damaging	0.98
R4504:Arhgap32	UTSW	9	32,093,135 (GRCm39)	splice site	probably null
R4587:Arhgap32	UTSW	9	32,172,241 (GRCm39)	missense	probably benign	0.02
R4612:Arhgap32	UTSW	9	32,170,775 (GRCm39)	missense	probably damaging	0.99
R4622:Arhgap32	UTSW	9	32,150,644 (GRCm39)	missense	possibly damaging	0.75
R4670:Arhgap32	UTSW	9	32,081,441 (GRCm39)	missense	probably benign	0.03
R4784:Arhgap32	UTSW	9	32,172,076 (GRCm39)	missense	probably damaging	1.00
R4784:Arhgap32	UTSW	9	32,040,949 (GRCm39)	missense	probably damaging	0.99
R4785:Arhgap32	UTSW	9	32,040,949 (GRCm39)	missense	probably damaging	0.99
R4785:Arhgap32	UTSW	9	32,172,076 (GRCm39)	missense	probably damaging	1.00
R4906:Arhgap32	UTSW	9	32,156,552 (GRCm39)	critical splice donor site	probably null
R5046:Arhgap32	UTSW	9	32,168,095 (GRCm39)	missense	probably damaging	1.00
R5360:Arhgap32	UTSW	9	32,170,967 (GRCm39)	missense	probably damaging	1.00
R5382:Arhgap32	UTSW	9	32,063,306 (GRCm39)	missense	probably damaging	1.00
R5445:Arhgap32	UTSW	9	32,159,678 (GRCm39)	missense	probably benign	0.19
R5637:Arhgap32	UTSW	9	32,158,502 (GRCm39)	missense	probably damaging	1.00
R5801:Arhgap32	UTSW	9	32,167,084 (GRCm39)	missense	probably benign	0.01
R6002:Arhgap32	UTSW	9	32,168,275 (GRCm39)	missense	probably benign	0.00
R6109:Arhgap32	UTSW	9	32,171,407 (GRCm39)	missense	probably damaging	1.00
R6405:Arhgap32	UTSW	9	32,159,784 (GRCm39)	missense	probably benign	0.31
R6922:Arhgap32	UTSW	9	32,063,983 (GRCm39)	missense	possibly damaging	0.86
R7009:Arhgap32	UTSW	9	32,157,272 (GRCm39)	missense	probably damaging	1.00
R7137:Arhgap32	UTSW	9	32,063,232 (GRCm39)	missense	probably benign	0.32
R7183:Arhgap32	UTSW	9	32,097,679 (GRCm39)	missense	probably benign	0.15
R7251:Arhgap32	UTSW	9	32,119,481 (GRCm39)	missense	probably damaging	1.00
R7287:Arhgap32	UTSW	9	32,063,993 (GRCm39)	missense
R7289:Arhgap32	UTSW	9	32,168,234 (GRCm39)	missense	probably benign	0.02
R7289:Arhgap32	UTSW	9	32,168,233 (GRCm39)	missense	possibly damaging	0.92
R7391:Arhgap32	UTSW	9	32,093,235 (GRCm39)	missense	probably benign	0.00
R7408:Arhgap32	UTSW	9	32,157,220 (GRCm39)	missense	probably benign	0.06
R7566:Arhgap32	UTSW	9	32,162,018 (GRCm39)	missense	probably benign	0.10
R7584:Arhgap32	UTSW	9	32,168,263 (GRCm39)	missense	probably benign	0.16
R7653:Arhgap32	UTSW	9	32,168,441 (GRCm39)	missense	probably benign
R7884:Arhgap32	UTSW	9	32,171,810 (GRCm39)	missense	possibly damaging	0.87
R8087:Arhgap32	UTSW	9	32,168,324 (GRCm39)	missense	probably benign	0.00
R8109:Arhgap32	UTSW	9	32,093,150 (GRCm39)	missense	probably benign	0.09
R8131:Arhgap32	UTSW	9	32,158,426 (GRCm39)	missense	probably damaging	1.00
R8155:Arhgap32	UTSW	9	32,093,196 (GRCm39)	missense	probably damaging	1.00
R8232:Arhgap32	UTSW	9	32,168,198 (GRCm39)	missense	probably damaging	1.00
R8303:Arhgap32	UTSW	9	32,172,205 (GRCm39)	missense	probably benign	0.00
R8304:Arhgap32	UTSW	9	32,167,233 (GRCm39)	nonsense	probably null
R8696:Arhgap32	UTSW	9	32,159,799 (GRCm39)	missense	possibly damaging	0.90
R8832:Arhgap32	UTSW	9	32,172,115 (GRCm39)	missense	possibly damaging	0.94
R9112:Arhgap32	UTSW	9	32,157,309 (GRCm39)	missense	probably damaging	0.99
R9170:Arhgap32	UTSW	9	32,162,039 (GRCm39)	missense	possibly damaging	0.47
R9279:Arhgap32	UTSW	9	32,168,655 (GRCm39)	missense	probably benign	0.01
R9431:Arhgap32	UTSW	9	32,170,463 (GRCm39)	missense	probably damaging	1.00
R9522:Arhgap32	UTSW	9	32,027,450 (GRCm39)	missense	probably benign
R9526:Arhgap32	UTSW	9	32,172,026 (GRCm39)	missense	probably benign	0.28
R9661:Arhgap32	UTSW	9	32,168,531 (GRCm39)	missense	probably benign	0.01
X0027:Arhgap32	UTSW	9	32,161,937 (GRCm39)	critical splice acceptor site	probably null
X0063:Arhgap32	UTSW	9	32,172,365 (GRCm39)	missense	probably damaging	1.00
Z1177:Arhgap32	UTSW	9	32,171,976 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AATTTACCGGAGTGTTTGGAGC -3'
(R):5'- ACAGCCACTGACACTTGTTTAC -3'

Sequencing Primer
(F):5'- GTTTGGAGCTGAACTGATTATCATC -3'
(R):5'- GTTTACTTCTGCACCCTAGAAAG -3'

Posted On

2016-11-09