Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01020:Arhgap32'

53781

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgap32

Ensembl Gene

ENSMUSG00000041444

Gene Name

Rho GTPase activating protein 32

Synonyms

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01020

Quality Score

Status

Chromosome

Chromosomal Location

32116136-32268446 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32257361 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 880 (H880R)

Ref Sequence

ENSEMBL: ENSMUSP00000138145 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168954
AA Change: H880R

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

SMART Domains

Protein: ENSMUSP00000128448
Gene: ENSMUSG00000041444
AA Change: H880R

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
AA Change: H1229R

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

SMART Domains

Protein: ENSMUSP00000133898
Gene: ENSMUSG00000041444
AA Change: H1229R

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 benign
Transcript: ENSMUST00000182802
AA Change: H880R

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

SMART Domains

Protein: ENSMUSP00000138145
Gene: ENSMUSG00000041444
AA Change: H880R

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

Coding Region Coverage

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt3	T	G	1: 177,130,967		probably benign	Het
Aldh18a1	C	T	19: 40,569,181		probably benign	Het
Arhgef7	G	A	8: 11,782,540	S5N	probably damaging	Het
Atp6v1e1	T	C	6: 120,808,411	M40V	possibly damaging	Het
Atr	T	C	9: 95,862,783	V51A	probably damaging	Het
Atxn10	A	G	15: 85,375,422		probably null	Het
Btbd16	T	A	7: 130,824,361	I502N	probably damaging	Het
Casc4	G	A	2: 121,925,722	V411I	probably benign	Het
Celsr2	G	T	3: 108,403,270	L1499M	probably damaging	Het
Cfl1	C	T	19: 5,493,681		probably benign	Het
Cul9	T	C	17: 46,539,023	E500G	probably damaging	Het
Dusp3	G	T	11: 101,984,644	N31K	probably benign	Het
Erbb4	A	T	1: 68,298,449		probably benign	Het
Fam234b	G	A	6: 135,211,906	V170M	probably benign	Het
Fign	A	G	2: 63,979,010	S639P	probably damaging	Het
Gbp7	A	G	3: 142,542,857	T294A	probably benign	Het
Ift80	C	T	3: 68,963,679	D195N	probably damaging	Het
Kif21b	G	T	1: 136,154,094		probably benign	Het
Kif2c	A	T	4: 117,166,904	F397I	probably damaging	Het
Lamc3	T	C	2: 31,914,656	V567A	probably benign	Het
Letmd1	T	C	15: 100,471,759	M36T	probably damaging	Het
Lrp1b	A	G	2: 40,998,247	W2220R	probably damaging	Het
Mical2	T	A	7: 112,315,076		probably benign	Het
Mtif2	A	G	11: 29,544,973	D691G	possibly damaging	Het
Myh8	G	A	11: 67,283,403	V189M	probably damaging	Het
Myo9b	G	A	8: 71,352,000	R1418K	probably benign	Het
Nkpd1	G	A	7: 19,518,749	V7M	possibly damaging	Het
Nrxn2	G	A	19: 6,493,443	V1116I	probably benign	Het
Nynrin	A	G	14: 55,868,448	M875V	probably benign	Het
Oat	T	C	7: 132,567,173		probably null	Het
Olfr855	G	A	9: 19,585,320	S261N	possibly damaging	Het
Olfr938	A	C	9: 39,078,451	I98R	probably damaging	Het
Prkaa2	C	T	4: 105,075,462	R63Q	probably damaging	Het
Psg29	T	A	7: 17,208,732	S219R	probably benign	Het
Ptprc	T	C	1: 138,120,173		probably null	Het
Pwwp2b	G	T	7: 139,254,855	E71*	probably null	Het
Robo2	T	C	16: 73,928,151	T1055A	probably benign	Het
Serpina9	T	A	12: 104,008,586	N103Y	probably damaging	Het
Sis	T	C	3: 72,966,838	E10G	probably damaging	Het
Tbck	C	T	3: 132,727,142	Q438*	probably null	Het
Thnsl1	T	C	2: 21,212,494	L353S	probably damaging	Het
Tmem237	C	A	1: 59,107,453		probably null	Het
Tuba3a	C	T	6: 125,281,340	R229H	probably damaging	Het
Zbtb2	A	G	10: 4,369,702	I108T	probably benign	Het
Zfp345	T	C	2: 150,473,047	N190S	possibly damaging	Het

Other mutations in Arhgap32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01317:Arhgap32	APN	9	32256964	missense	probably benign	0.30
IGL01614:Arhgap32	APN	9	32260505	missense	probably damaging	1.00
IGL01791:Arhgap32	APN	9	32247190	missense	probably damaging	0.96
IGL02318:Arhgap32	APN	9	32259331	missense	probably benign	0.00
IGL02542:Arhgap32	APN	9	32255648	missense	probably damaging	1.00
IGL02568:Arhgap32	APN	9	32247194	missense	probably damaging	1.00
IGL02627:Arhgap32	APN	9	32246006	missense	probably damaging	1.00
IGL02927:Arhgap32	APN	9	32261135	missense	possibly damaging	0.95
IGL03157:Arhgap32	APN	9	32259134	missense	probably damaging	1.00
IGL03286:Arhgap32	APN	9	32259520	missense	probably benign	0.06
PIT4445001:Arhgap32	UTSW	9	32260856	missense	probably damaging	1.00
R0004:Arhgap32	UTSW	9	32151998	missense	probably damaging	0.98
R0335:Arhgap32	UTSW	9	32259760	missense	probably benign	0.00
R0380:Arhgap32	UTSW	9	32246477	missense	probably damaging	1.00
R0396:Arhgap32	UTSW	9	32245255	critical splice donor site	probably null
R0494:Arhgap32	UTSW	9	32258903	missense	probably damaging	0.98
R0508:Arhgap32	UTSW	9	32190068	splice site	probably benign
R0856:Arhgap32	UTSW	9	32260220	missense	probably damaging	1.00
R0990:Arhgap32	UTSW	9	32255381	missense	probably damaging	1.00
R1312:Arhgap32	UTSW	9	32255312	missense	probably benign
R1455:Arhgap32	UTSW	9	32260085	missense	probably benign	0.08
R1515:Arhgap32	UTSW	9	32116202	missense	probably benign
R1523:Arhgap32	UTSW	9	32256752	missense	probably damaging	1.00
R1651:Arhgap32	UTSW	9	32259800	missense	probably damaging	1.00
R1743:Arhgap32	UTSW	9	32259431	missense	probably benign	0.00
R1999:Arhgap32	UTSW	9	32116140	missense	possibly damaging	0.52
R2098:Arhgap32	UTSW	9	32259911	missense	probably damaging	1.00
R2150:Arhgap32	UTSW	9	32116140	missense	possibly damaging	0.52
R2256:Arhgap32	UTSW	9	32247497	missense	probably damaging	0.99
R2257:Arhgap32	UTSW	9	32247497	missense	probably damaging	0.99
R2989:Arhgap32	UTSW	9	32239398	missense	possibly damaging	0.54
R3780:Arhgap32	UTSW	9	32152019	splice site	probably null
R3793:Arhgap32	UTSW	9	32255373	missense	probably damaging	1.00
R3846:Arhgap32	UTSW	9	32190024	missense	probably benign	0.03
R4086:Arhgap32	UTSW	9	32247066	unclassified	probably benign
R4177:Arhgap32	UTSW	9	32247214	missense	probably null	1.00
R4230:Arhgap32	UTSW	9	32257474	missense	probably benign	0.10
R4280:Arhgap32	UTSW	9	32259889	missense	probably damaging	0.98
R4504:Arhgap32	UTSW	9	32181839	splice site	probably null
R4587:Arhgap32	UTSW	9	32260945	missense	probably benign	0.02
R4612:Arhgap32	UTSW	9	32259479	missense	probably damaging	0.99
R4622:Arhgap32	UTSW	9	32239348	missense	possibly damaging	0.75
R4670:Arhgap32	UTSW	9	32170145	missense	probably benign	0.03
R4784:Arhgap32	UTSW	9	32129653	missense	probably damaging	0.99
R4784:Arhgap32	UTSW	9	32260780	missense	probably damaging	1.00
R4785:Arhgap32	UTSW	9	32129653	missense	probably damaging	0.99
R4785:Arhgap32	UTSW	9	32260780	missense	probably damaging	1.00
R4906:Arhgap32	UTSW	9	32245256	critical splice donor site	probably null
R5046:Arhgap32	UTSW	9	32256799	missense	probably damaging	1.00
R5360:Arhgap32	UTSW	9	32259671	missense	probably damaging	1.00
R5382:Arhgap32	UTSW	9	32152010	missense	probably damaging	1.00
R5445:Arhgap32	UTSW	9	32248382	missense	probably benign	0.19
R5637:Arhgap32	UTSW	9	32247206	missense	probably damaging	1.00
R5659:Arhgap32	UTSW	9	32181960	missense	probably damaging	1.00
R5801:Arhgap32	UTSW	9	32255788	missense	probably benign	0.01
R6002:Arhgap32	UTSW	9	32256979	missense	probably benign	0.00
R6109:Arhgap32	UTSW	9	32260111	missense	probably damaging	1.00
R6405:Arhgap32	UTSW	9	32248488	missense	probably benign	0.31
R6922:Arhgap32	UTSW	9	32152687	missense	possibly damaging	0.86
R7009:Arhgap32	UTSW	9	32245976	missense	probably damaging	1.00
R7137:Arhgap32	UTSW	9	32151936	missense	probably benign	0.32
R7183:Arhgap32	UTSW	9	32186383	missense	probably benign	0.15
R7251:Arhgap32	UTSW	9	32208185	missense	probably damaging	1.00
R7287:Arhgap32	UTSW	9	32152697	missense
R7289:Arhgap32	UTSW	9	32256937	missense	possibly damaging	0.92
R7289:Arhgap32	UTSW	9	32256938	missense	probably benign	0.02
R7391:Arhgap32	UTSW	9	32181939	missense	probably benign	0.00
R7408:Arhgap32	UTSW	9	32245924	missense	probably benign	0.06
R7566:Arhgap32	UTSW	9	32250722	missense	probably benign	0.10
R7584:Arhgap32	UTSW	9	32256967	missense	probably benign	0.16
R7653:Arhgap32	UTSW	9	32257145	missense	probably benign
X0027:Arhgap32	UTSW	9	32250641	critical splice acceptor site	probably null
X0063:Arhgap32	UTSW	9	32261069	missense	probably damaging	1.00

Posted On

2013-06-28