Mutagenetix > Incidental Mutation

Incidental Mutation 'R9431:Arhgap32'

712965

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9431 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32027432-32179742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32170463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 1081 (A1081D)

Ref Sequence

ENSEMBL: ENSMUSP00000138145 (fasta)

Gene Model

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

AlphaFold

Q811P8

Predicted Effect

probably damaging
Transcript: ENSMUST00000168954
AA Change: A1081D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128448
Gene: ENSMUSG00000041444
AA Change: A1081D

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 damaging
Transcript: ENSMUST00000174641
AA Change: A1430D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133898
Gene: ENSMUSG00000041444
AA Change: A1430D

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: ENSMUST00000182802
AA Change: A1081D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138145
Gene: ENSMUSG00000041444
AA Change: A1081D

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	C	5: 88,120,325 (GRCm39)	I361L	possibly damaging	Het
Aebp2	C	T	6: 140,592,594 (GRCm39)	P446L	probably damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Cdc73	T	A	1: 143,545,740 (GRCm39)	K299*	probably null	Het
Cpq	C	T	15: 33,250,078 (GRCm39)	T145I	probably benign	Het
Creb1	C	A	1: 64,615,413 (GRCm39)	A215E	probably damaging	Het
D630045J12Rik	G	T	6: 38,173,814 (GRCm39)	A118E	probably benign	Het
Dnah7a	A	T	1: 53,450,812 (GRCm39)	F3873I	possibly damaging	Het
Dock10	T	C	1: 80,583,593 (GRCm39)	Y203C	probably damaging	Het
Evi5	A	G	5: 107,990,150 (GRCm39)	V23A	probably damaging	Het
Fat2	T	C	11: 55,142,838 (GRCm39)	D4337G	probably damaging	Het
Fbxl17	G	A	17: 63,387,489 (GRCm39)	T631I	probably damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Focad	A	G	4: 88,321,583 (GRCm39)	M1559V	unknown	Het
Fras1	A	T	5: 96,900,873 (GRCm39)	I3031L	possibly damaging	Het
Gnas	T	C	2: 174,139,826 (GRCm39)	S58P	unknown	Het
Hdac9	G	A	12: 34,440,327 (GRCm39)	Q351*	probably null	Het
Ibsp	A	T	5: 104,457,167 (GRCm39)	N92I	probably damaging	Het
Kank1	C	A	19: 25,387,866 (GRCm39)	T513N	probably damaging	Het
Kcnh1	A	G	1: 192,101,123 (GRCm39)	T599A	probably benign	Het
Kdm5a	T	A	6: 120,392,253 (GRCm39)	L992M	probably damaging	Het
Lipc	T	C	9: 70,723,889 (GRCm39)	Y245C	probably damaging	Het
Mdfic2	T	C	6: 98,215,164 (GRCm39)	H153R	probably benign	Het
Morc3	C	A	16: 93,667,771 (GRCm39)	Y716*	probably null	Het
Mroh2b	A	T	15: 4,963,952 (GRCm39)	D848V	probably damaging	Het
Or13c7e-ps1	A	C	4: 43,781,682 (GRCm39)	I216S	possibly damaging	Het
Or2d2b	T	A	7: 106,705,336 (GRCm39)	H244L	probably damaging	Het
Or2y1b	A	G	11: 49,208,459 (GRCm39)	I29V	probably benign	Het
Or5h27	A	G	16: 59,006,090 (GRCm39)	V252A	unknown	Het
Or6ae1	T	A	7: 139,741,942 (GRCm39)	Q307L	probably benign	Het
Patl1	A	G	19: 11,898,815 (GRCm39)	E170G	probably damaging	Het
Rad17	A	G	13: 100,780,074 (GRCm39)	V112A	probably damaging	Het
Rigi	A	G	4: 40,229,545 (GRCm39)	S125P	probably benign	Het
Sertad2	A	T	11: 20,598,425 (GRCm39)	E207V	probably benign	Het
Slc12a5	T	C	2: 164,832,178 (GRCm39)	V699A	possibly damaging	Het
Slc13a4	A	G	6: 35,278,742 (GRCm39)	V49A	probably damaging	Het
Slc22a6	A	G	19: 8,598,596 (GRCm39)	T218A	probably benign	Het
Slc30a9	A	G	5: 67,505,278 (GRCm39)	D422G	probably damaging	Het
Slc37a3	T	C	6: 39,324,363 (GRCm39)	Y295C	possibly damaging	Het
Slc39a8	T	C	3: 135,563,923 (GRCm39)	V256A	probably benign	Het
Slc45a2	G	A	15: 11,026,005 (GRCm39)	E452K	possibly damaging	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Slc7a12	G	A	3: 14,546,035 (GRCm39)	C60Y	probably damaging	Het
St8sia3	T	A	18: 64,398,640 (GRCm39)	L33Q	probably damaging	Het
Tiam1	A	G	16: 89,594,918 (GRCm39)		probably null	Het
Trim37	T	A	11: 87,077,257 (GRCm39)	V529E	probably benign	Het
Trpv3	A	T	11: 73,178,225 (GRCm39)	T431S	probably benign	Het
Tsc22d1	TCAGCAGCAGCAGCAGCAGCAGCAGCA	TCAGCAGCAGCAGCAGCAGCAGCA	14: 76,654,707 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,544,679 (GRCm39)	V32808M	probably damaging	Het
Vmn2r27	T	C	6: 124,168,856 (GRCm39)	Y758C	probably damaging	Het
Vwa5b2	C	T	16: 20,423,046 (GRCm39)	P1015S	probably benign	Het
Whamm	A	G	7: 81,236,035 (GRCm39)	R413G	probably damaging	Het
Zbtb41	C	T	1: 139,350,781 (GRCm39)		probably benign	Het
Zfp119b	A	G	17: 56,246,536 (GRCm39)	S217P	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
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
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'- ATCTTCCTCAGTGATGGCAC -3'
(R):5'- GGCAGTTTGGAGTCATATTGAAATG -3'

Sequencing Primer
(F):5'- TGATGGCACTGCTGCTGC -3'
(R):5'- CAGTTTTCTGGACCAAAGGGCTC -3'

Posted On

2022-05-16