Mutagenetix > Incidental Mutation

Incidental Mutation 'R4086:Arhgap32'

317372

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

041625-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32027432-32179742 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to C at 32158362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138584 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168954] [ENSMUST00000174641] [ENSMUST00000182802] [ENSMUST00000183121]

AlphaFold

Q811P8

Predicted Effect

probably benign
Transcript: ENSMUST00000168954

SMART Domains

Protein: ENSMUSP00000128448
Gene: ENSMUSG00000041444

Domain	Start	End	E-Value	Type
RhoGAP	34	215	9.6e-60	SMART
Blast:RhoGAP	232	298	7e-31	BLAST
low complexity region	518	533	N/A	INTRINSIC
low complexity region	669	689	N/A	INTRINSIC
low complexity region	696	710	N/A	INTRINSIC
low complexity region	913	926	N/A	INTRINSIC
low complexity region	960	974	N/A	INTRINSIC
low complexity region	997	1008	N/A	INTRINSIC
low complexity region	1076	1093	N/A	INTRINSIC
low complexity region	1304	1317	N/A	INTRINSIC
low complexity region	1691	1700	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174641

SMART Domains

Protein: ENSMUSP00000133898
Gene: ENSMUSG00000041444

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

noncoding transcript
Transcript: ENSMUST00000174730

Predicted Effect

probably benign
Transcript: ENSMUST00000182802

SMART Domains

Protein: ENSMUSP00000138145
Gene: ENSMUSG00000041444

Domain	Start	End	E-Value	Type
RhoGAP	34	215	9.6e-60	SMART
Blast:RhoGAP	232	298	7e-31	BLAST
low complexity region	518	533	N/A	INTRINSIC
low complexity region	669	689	N/A	INTRINSIC
low complexity region	696	710	N/A	INTRINSIC
low complexity region	913	926	N/A	INTRINSIC
low complexity region	960	974	N/A	INTRINSIC
low complexity region	997	1008	N/A	INTRINSIC
low complexity region	1076	1093	N/A	INTRINSIC
low complexity region	1304	1317	N/A	INTRINSIC
low complexity region	1691	1700	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183121

SMART Domains

Protein: ENSMUSP00000138584
Gene: ENSMUSG00000041444

Domain	Start	End	E-Value	Type
Pfam:RhoGAP	37	92	5.9e-11	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (58/58)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd7	G	A	2: 3,341,488 (GRCm39)		probably null	Het
Acss3	T	G	10: 106,889,313 (GRCm39)	Y169S	probably damaging	Het
Adcy7	A	G	8: 89,042,414 (GRCm39)	D427G	probably benign	Het
Adrm1	A	G	2: 179,814,627 (GRCm39)		probably benign	Het
Arfgef1	T	C	1: 10,233,984 (GRCm39)	I1103M	probably benign	Het
Arhgef28	T	C	13: 98,103,712 (GRCm39)	R767G	probably damaging	Het
BC046251	A	G	7: 65,231,896 (GRCm39)		noncoding transcript	Het
Brwd1	T	C	16: 95,847,572 (GRCm39)	S683G	probably benign	Het
Calcoco1	C	G	15: 102,618,834 (GRCm39)		probably benign	Het
Carmil1	G	T	13: 24,208,444 (GRCm39)	P834T	possibly damaging	Het
Cldn34c4	A	T	X: 126,629,011 (GRCm39)	V153E	probably damaging	Het
Col24a1	G	A	3: 145,167,192 (GRCm39)	G1090R	probably damaging	Het
Csmd1	T	A	8: 16,042,738 (GRCm39)	I2332F	probably damaging	Het
Ets2	C	A	16: 95,510,833 (GRCm39)	D30E	probably damaging	Het
Fam181b	T	C	7: 92,729,788 (GRCm39)	V187A	probably benign	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fbxo41	C	T	6: 85,455,528 (GRCm39)	R552Q	possibly damaging	Het
Fstl5	G	T	3: 76,555,593 (GRCm39)	C53F	probably damaging	Het
Ftsj3	T	C	11: 106,140,395 (GRCm39)	Y791C	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm15446	A	G	5: 110,091,121 (GRCm39)	K458E	probably benign	Het
Hecw2	T	C	1: 53,870,815 (GRCm39)	I1389V	probably damaging	Het
Ipo9	A	G	1: 135,316,428 (GRCm39)		probably benign	Het
Krtap31-1	C	T	11: 99,799,145 (GRCm39)	T116I	possibly damaging	Het
Mafa	T	G	15: 75,618,986 (GRCm39)	K262N	probably damaging	Het
Nxph4	T	C	10: 127,362,555 (GRCm39)	Y112C	probably damaging	Het
Or5ak4	C	A	2: 85,162,170 (GRCm39)	W24L	probably benign	Het
Or6c70	A	G	10: 129,710,167 (GRCm39)	V153A	possibly damaging	Het
Pgls	G	A	8: 72,048,734 (GRCm39)	A142T	probably damaging	Het
Phlpp1	A	G	1: 106,274,891 (GRCm39)	I885V	probably benign	Het
Prkcq	A	G	2: 11,288,679 (GRCm39)	D544G	probably damaging	Het
Rnf44	T	C	13: 54,830,148 (GRCm39)	N254D	possibly damaging	Het
Septin10	A	T	10: 59,028,045 (GRCm39)	L92*	probably null	Het
Slc14a2	A	T	18: 78,248,998 (GRCm39)	I156N	probably damaging	Het
Sos1	A	G	17: 80,756,781 (GRCm39)	V257A	probably benign	Het
Sypl2	A	G	3: 108,124,992 (GRCm39)	I123T	possibly damaging	Het
Thap12	A	G	7: 98,365,701 (GRCm39)	D623G	possibly damaging	Het
Traf3ip3	A	G	1: 192,863,628 (GRCm39)	V414A	probably damaging	Het
Trim14	T	A	4: 46,523,709 (GRCm39)	T110S	probably benign	Het
Trim30d	T	C	7: 104,137,007 (GRCm39)	N66D	probably damaging	Het
Trim65	G	A	11: 116,017,305 (GRCm39)	Q386*	probably null	Het
Ube2u	T	A	4: 100,407,039 (GRCm39)	I187N	probably benign	Het
Vmn1r90	G	A	7: 14,297,219 (GRCm39)		probably benign	Het
Wbp2nl	A	G	15: 82,192,762 (GRCm39)	M149V	probably benign	Het
Xpo4	C	T	14: 57,880,490 (GRCm39)		probably benign	Het
Zbtb21	A	T	16: 97,753,963 (GRCm39)	Y135N	probably damaging	Het
Zbtb22	T	A	17: 34,137,142 (GRCm39)	V429D	probably damaging	Het
Zfp281	T	A	1: 136,553,859 (GRCm39)	I279N	probably damaging	Het
Zhx1	T	C	15: 57,916,317 (GRCm39)	E643G	possibly damaging	Het
Zzef1	C	T	11: 72,765,879 (GRCm39)	H1469Y	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
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	32,172,076 (GRCm39)	missense	probably damaging	1.00
R4785:Arhgap32	UTSW	9	32,040,949 (GRCm39)	missense	probably damaging	0.99
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
R5659:Arhgap32	UTSW	9	32,093,256 (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'- TGGGCTTTTCACTATGAAAGCAG -3'
(R):5'- CCTAGATGGCTGCTTTAGGG -3'

Sequencing Primer
(F):5'- TCACTATGAAAGCAGATCAGCTG -3'
(R):5'- TCTTGATGAAAAATGATGCAAGGC -3'

Posted On

2015-05-15