Mutagenetix > Incidental Mutation

Incidental Mutation 'R5382:Arhgap32'

424791

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

042957-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5382 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32027432-32179742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32063306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 105 (K105M)

Ref Sequence

ENSEMBL: ENSMUSP00000133898 (fasta)

Gene Model

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

AlphaFold

Q811P8

Predicted Effect

probably damaging
Transcript: ENSMUST00000174641
AA Change: K105M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133898
Gene: ENSMUSG00000041444
AA Change: K105M

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

unknown
Transcript: ENSMUST00000182310
AA Change: K66M

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (59/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,314,844 (GRCm39)	P250S	possibly damaging	Het
Actn2	T	A	13: 12,323,837 (GRCm39)	M133L	probably benign	Het
BC034090	A	G	1: 155,101,349 (GRCm39)	V305A	probably benign	Het
Brd1	G	A	15: 88,613,767 (GRCm39)	T376M	probably damaging	Het
Cbl	C	T	9: 44,070,318 (GRCm39)	A505T	probably benign	Het
Cga	G	T	4: 34,904,048 (GRCm39)	M14I	probably benign	Het
Ciao3	A	G	17: 25,995,894 (GRCm39)		probably benign	Het
Cluh	T	C	11: 74,555,935 (GRCm39)		probably benign	Het
Col14a1	A	T	15: 55,225,832 (GRCm39)	D165V	unknown	Het
Cp	T	C	3: 20,033,089 (GRCm39)	W639R	probably damaging	Het
Cyp7b1	T	A	3: 18,151,385 (GRCm39)	D276V	possibly damaging	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Ecpas	A	T	4: 58,850,934 (GRCm39)	M413K	probably benign	Het
Erc1	T	A	6: 119,738,233 (GRCm39)	M509L	probably benign	Het
Evi5l	A	G	8: 4,228,653 (GRCm39)		probably benign	Het
Exoc6	T	C	19: 37,587,127 (GRCm39)		probably null	Het
Gm38706	C	T	6: 130,460,744 (GRCm39)		noncoding transcript	Het
Gpr183	T	C	14: 122,192,333 (GRCm39)	T63A	possibly damaging	Het
Gpr63	T	A	4: 25,007,952 (GRCm39)	D225E	probably benign	Het
Grb14	T	A	2: 64,745,078 (GRCm39)	K93N	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kif28	C	T	1: 179,527,847 (GRCm39)	G768D	probably damaging	Het
Krt79	A	T	15: 101,839,875 (GRCm39)	D373E	probably benign	Het
Mro	G	A	18: 74,009,893 (GRCm39)	S187N	probably benign	Het
Ms4a14	G	T	19: 11,280,421 (GRCm39)	D712E	possibly damaging	Het
Ndufaf1	T	C	2: 119,490,893 (GRCm39)	T56A	possibly damaging	Het
Nell2	A	T	15: 95,127,091 (GRCm39)	D761E	probably damaging	Het
Numb	A	G	12: 83,854,979 (GRCm39)	F116L	probably damaging	Het
Or3a1	T	A	11: 74,225,806 (GRCm39)	M84L	probably benign	Het
Or4c114	A	G	2: 88,905,079 (GRCm39)	Y119H	probably damaging	Het
Or5an11	A	T	19: 12,245,773 (GRCm39)	M60L	possibly damaging	Het
Or6c66	T	A	10: 129,461,876 (GRCm39)	D18V	probably damaging	Het
Or8k27	A	G	2: 86,275,660 (GRCm39)	L222P	probably damaging	Het
Or9g20	T	C	2: 85,630,492 (GRCm39)	N41D	probably damaging	Het
Otog	A	C	7: 45,898,428 (GRCm39)	N182T	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Padi6	A	T	4: 140,458,521 (GRCm39)	V457E	probably damaging	Het
Pex16	G	A	2: 92,207,875 (GRCm39)	R109H	possibly damaging	Het
Phactr1	T	C	13: 43,288,695 (GRCm39)		probably benign	Het
Phf20	G	A	2: 156,109,417 (GRCm39)	E255K	probably damaging	Het
Pim1	A	G	17: 29,710,457 (GRCm39)		probably benign	Het
Prr23a2	T	A	9: 98,739,229 (GRCm39)	Y196N	probably damaging	Het
Prune2	A	T	19: 16,981,023 (GRCm39)	N60I	probably damaging	Het
Ptprb	T	A	10: 116,189,776 (GRCm39)	Y1812N	probably damaging	Het
Rab11fip4	A	G	11: 79,581,541 (GRCm39)	Y512C	possibly damaging	Het
Resf1	G	T	6: 149,227,958 (GRCm39)	E335*	probably null	Het
Rft1	T	C	14: 30,388,739 (GRCm39)	V221A	probably benign	Het
Tacr2	T	C	10: 62,097,276 (GRCm39)	M252T	probably damaging	Het
Tgfbrap1	A	G	1: 43,115,025 (GRCm39)	I25T	probably benign	Het
Th	A	G	7: 142,449,177 (GRCm39)	F191S	probably damaging	Het
Trim3	C	A	7: 105,267,554 (GRCm39)	R275L	probably benign	Het
Trpm3	A	G	19: 22,862,705 (GRCm39)		probably null	Het
Wars1	A	T	12: 108,848,706 (GRCm39)	D80E	probably benign	Het
Wdr90	T	A	17: 26,064,572 (GRCm39)	Y1806F	probably damaging	Het
Zfp644	A	T	5: 106,782,735 (GRCm39)	I1182N	possibly damaging	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
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'- CGAGTGAAAATGTATCTGTAGTCTG -3'
(R):5'- TCGTTAGACAACTGCAACCTAG -3'

Sequencing Primer
(F):5'- GTCTGTTTTCATAAGAGACGTCTC -3'
(R):5'- TTAGGAAAGTGAGTTGCATATAGACC -3'

Posted On

2016-08-04