Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02318:Arhgap32'

288111

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 #

IGL02318

Quality Score

Status

Chromosome

Chromosomal Location

32116136-32268446 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32259331 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1136 (T1136A)

Ref Sequence

ENSEMBL: ENSMUSP00000138145 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168954
AA Change: T1136A

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

SMART Domains

Protein: ENSMUSP00000128448
Gene: ENSMUSG00000041444
AA Change: T1136A

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: T1485A

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

SMART Domains

Protein: ENSMUSP00000133898
Gene: ENSMUSG00000041444
AA Change: T1485A

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: T1136A

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

SMART Domains

Protein: ENSMUSP00000138145
Gene: ENSMUSG00000041444
AA Change: T1136A

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	A	G	5: 138,563,576	F116S	probably damaging	Het
2410089E03Rik	A	G	15: 8,175,025	K96E	probably damaging	Het
4930467E23Rik	T	C	8: 19,747,799		probably null	Het
Abhd18	G	A	3: 40,930,227		probably null	Het
Akr1c6	G	T	13: 4,438,497	C34F	probably benign	Het
Ankef1	T	A	2: 136,544,775	I180N	possibly damaging	Het
Ap1b1	G	A	11: 5,019,294	V217I	probably benign	Het
Arhgap27	T	C	11: 103,333,163	Q608R	probably benign	Het
Ascc3	T	A	10: 50,728,154	Y1323*	probably null	Het
Bsx	A	C	9: 40,874,221	Q15P	probably benign	Het
Cdh20	A	G	1: 104,954,039	I410V	probably null	Het
Col20a1	A	G	2: 181,007,159	D945G	probably damaging	Het
Cox20	A	G	1: 178,322,478		probably null	Het
Cpne9	A	G	6: 113,293,738	D305G	possibly damaging	Het
Cyp2d12	A	G	15: 82,555,243	T33A	probably benign	Het
Dvl3	A	G	16: 20,523,743	R149G	possibly damaging	Het
Dysf	A	G	6: 84,186,464	I1624V	possibly damaging	Het
Echs1	A	T	7: 140,111,710	L167Q	probably damaging	Het
Ect2	A	T	3: 27,138,719	N358K	probably benign	Het
Eml4	A	G	17: 83,441,366	I230V	probably benign	Het
Fut10	A	G	8: 31,236,258	Y347C	probably damaging	Het
Gfm2	C	A	13: 97,162,975	N401K	probably damaging	Het
Gm4788	T	A	1: 139,781,097	E24D	probably benign	Het
Gm4795	C	T	10: 45,006,639		noncoding transcript	Het
Gm5592	C	A	7: 41,286,788	T238N	probably benign	Het
Gm9892	T	C	8: 52,196,225		noncoding transcript	Het
Greb1l	G	T	18: 10,469,388	M134I	possibly damaging	Het
Grk3	A	G	5: 112,937,803	Y314H	probably damaging	Het
Hrh2	T	C	13: 54,214,650	I215T	probably damaging	Het
Ilkap	A	G	1: 91,385,238		probably null	Het
Inpp4a	T	C	1: 37,368,303	Y233H	probably damaging	Het
Itgb4	G	A	11: 115,988,926	V635I	probably damaging	Het
Lmo7	C	T	14: 101,900,066		probably benign	Het
Luc7l3	C	T	11: 94,292,993	R440Q	probably benign	Het
Mis18bp1	A	C	12: 65,158,741	I219S	probably benign	Het
Myo9b	G	A	8: 71,354,124	E1581K	probably damaging	Het
Nfs1	T	A	2: 156,124,271	Q458L	probably damaging	Het
Numb	A	T	12: 83,831,918		probably null	Het
Nxf1	G	A	19: 8,764,150		probably null	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Olfr67	A	G	7: 103,788,268	V3A	probably benign	Het
Pde2a	A	T	7: 101,503,343	Y371F	possibly damaging	Het
Phlpp2	G	T	8: 109,939,873	L1011F	probably benign	Het
Prss27	G	T	17: 24,045,597	V245L	probably benign	Het
Rbm7	T	C	9: 48,494,111	N56S	probably damaging	Het
Rftn1	T	C	17: 50,036,970	I97V	possibly damaging	Het
Ric3	T	C	7: 109,048,080	T178A	probably damaging	Het
Rock1	A	G	18: 10,104,323		probably benign	Het
Sall2	T	C	14: 52,315,565	T56A	probably damaging	Het
Sgk1	T	C	10: 21,995,541	S60P	probably damaging	Het
Smarcad1	G	A	6: 65,073,239	A281T	probably damaging	Het
Spta1	A	G	1: 174,174,463	H53R	possibly damaging	Het
Thbs4	T	C	13: 92,763,584	D468G	probably damaging	Het
Tmem108	A	T	9: 103,499,782	V156E	probably benign	Het
Tmem206	A	G	1: 191,348,408	E275G	possibly damaging	Het
Tnfaip3	T	G	10: 19,004,467	R617S	probably benign	Het
Traf3	A	G	12: 111,237,597	M7V	probably benign	Het
Ubr3	T	A	2: 69,979,397	I1237N	probably damaging	Het
Vmn2r23	T	C	6: 123,741,836	V716A	probably benign	Het

Other mutations in Arhgap32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Arhgap32	APN	9	32257361	missense	probably benign	0.00
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
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
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
X0027:Arhgap32	UTSW	9	32250641	critical splice acceptor site	probably null
X0063:Arhgap32	UTSW	9	32261069	missense	probably damaging	1.00

Posted On

2015-04-16