Mutagenetix > Incidental Mutation

Incidental Mutation 'R4784:Arhgap32'

366846

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

041994-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4784 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32027432-32179742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32040949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 67 (D67G)

Ref Sequence

ENSEMBL: ENSMUSP00000133898 (fasta)

Gene Model

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

AlphaFold

Q811P8

Predicted Effect

probably damaging
Transcript: ENSMUST00000174641
AA Change: D67G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133898
Gene: ENSMUSG00000041444
AA Change: D67G

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: D28G

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1a	T	A	14: 66,875,273 (GRCm39)	S83T	probably damaging	Het
Aff1	T	A	5: 103,994,905 (GRCm39)	Y1034*	probably null	Het
Ago3	A	T	4: 126,262,296 (GRCm39)	M418K	probably benign	Het
Alpk1	G	T	3: 127,481,241 (GRCm39)	N175K	possibly damaging	Het
Als2	A	G	1: 59,254,472 (GRCm39)	V295A	probably benign	Het
Asns	T	G	6: 7,678,029 (GRCm39)	K350Q	probably benign	Het
Atp8b5	A	T	4: 43,356,980 (GRCm39)	D576V	probably damaging	Het
Atrnl1	A	G	19: 57,617,590 (GRCm39)	I122V	probably damaging	Het
Baz1b	T	G	5: 135,246,267 (GRCm39)	L572R	possibly damaging	Het
C4b	T	C	17: 34,952,380 (GRCm39)	T1220A	probably benign	Het
Carmil3	T	C	14: 55,738,778 (GRCm39)		probably null	Het
Ccndbp1	A	T	2: 120,839,003 (GRCm39)	T5S	probably benign	Het
Chaf1b	T	C	16: 93,681,430 (GRCm39)	V16A	probably damaging	Het
Chd8	C	A	14: 52,442,825 (GRCm39)	C575F	probably damaging	Het
Chrna10	G	A	7: 101,762,426 (GRCm39)	P255S	possibly damaging	Het
Clip1	T	C	5: 123,717,356 (GRCm39)	D1387G	probably damaging	Het
Col12a1	C	A	9: 79,585,776 (GRCm39)	V1228F	possibly damaging	Het
Cxcr5	T	C	9: 44,424,638 (GRCm39)	T340A	probably benign	Het
Cyp2e1	G	A	7: 140,343,821 (GRCm39)	V20I	possibly damaging	Het
Dchs1	A	G	7: 105,415,133 (GRCm39)	Y684H	probably damaging	Het
Dcun1d3	T	C	7: 119,456,887 (GRCm39)	E275G	probably damaging	Het
Dgcr8	G	A	16: 18,076,174 (GRCm39)	R4*	probably null	Het
Dglucy	A	T	12: 100,804,923 (GRCm39)	D168V	probably damaging	Het
Dnah1	T	A	14: 30,985,436 (GRCm39)	K3818N	probably damaging	Het
Dnajc17	T	C	2: 119,009,909 (GRCm39)	D239G	probably benign	Het
Dok2	C	T	14: 71,015,314 (GRCm39)	P347L	probably benign	Het
Elavl2	T	C	4: 91,142,379 (GRCm39)	R265G	probably null	Het
Elf1	T	A	14: 79,818,183 (GRCm39)	N567K	probably benign	Het
Epha8	A	T	4: 136,660,633 (GRCm39)	I695N	probably damaging	Het
Fam178b	C	A	1: 36,671,496 (GRCm39)		probably null	Het
Fam76a	A	T	4: 132,629,428 (GRCm39)		probably null	Het
Fam76a	A	G	4: 132,643,501 (GRCm39)	Y78H	probably damaging	Het
Fbn1	A	T	2: 125,166,839 (GRCm39)	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,998,523 (GRCm39)	T312A	probably benign	Het
Fscn2	T	C	11: 120,258,813 (GRCm39)	F453L	possibly damaging	Het
Gabrb2	T	C	11: 42,488,469 (GRCm39)	C312R	probably damaging	Het
Gba2	A	C	4: 43,568,315 (GRCm39)	L684R	probably damaging	Het
Golga2	T	A	2: 32,187,168 (GRCm39)	N89K	probably damaging	Het
Gpx6	C	T	13: 21,496,434 (GRCm39)	Q3*	probably null	Het
Grin1	T	A	2: 25,182,393 (GRCm39)	H956L	possibly damaging	Het
H2-Q7	T	G	17: 35,658,914 (GRCm39)	C122G	probably damaging	Het
Hcar2	C	G	5: 124,002,513 (GRCm39)	G330A	probably benign	Het
Hes3	A	G	4: 152,372,289 (GRCm39)	S37P	probably damaging	Het
Hs3st3b1	T	C	11: 63,780,086 (GRCm39)	H347R	probably benign	Het
Il1rl1	A	G	1: 40,489,348 (GRCm39)	R367G	probably damaging	Het
Kcnc1	G	T	7: 46,086,711 (GRCm39)	S570I	probably benign	Het
Kctd3	T	C	1: 188,706,665 (GRCm39)	I523M	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kntc1	T	G	5: 123,954,825 (GRCm39)	M2081R	possibly damaging	Het
Krt87	A	G	15: 101,385,837 (GRCm39)	S253P	probably damaging	Het
Ktn1	T	A	14: 47,930,953 (GRCm39)		probably null	Het
Lair1	T	A	7: 4,012,731 (GRCm39)	M251L	probably benign	Het
Lama3	A	T	18: 12,582,601 (GRCm39)	H631L	probably benign	Het
Lamc1	T	C	1: 153,107,486 (GRCm39)	N1231S	probably damaging	Het
Lin54	A	G	5: 100,607,597 (GRCm39)	I250T	probably damaging	Het
Lrit1	C	T	14: 36,784,193 (GRCm39)	T507M	possibly damaging	Het
Lrp11	A	G	10: 7,479,965 (GRCm39)	H345R	possibly damaging	Het
Lrp6	A	C	6: 134,456,502 (GRCm39)	S921A	probably benign	Het
Lrrc27	A	G	7: 138,822,614 (GRCm39)	T502A	probably benign	Het
Marf1	A	C	16: 13,970,321 (GRCm39)	S133A	probably benign	Het
Mga	C	T	2: 119,733,538 (GRCm39)	P129S	probably damaging	Het
Mgat4e	T	C	1: 134,469,063 (GRCm39)	N327S	probably damaging	Het
Mlh1	A	G	9: 111,068,866 (GRCm39)	Y499H	probably benign	Het
Mrgpra1	A	G	7: 46,985,218 (GRCm39)	S154P	probably damaging	Het
Myo1h	A	G	5: 114,498,660 (GRCm39)	I919V	possibly damaging	Het
Naalad2	T	C	9: 18,262,214 (GRCm39)	R442G	probably damaging	Het
Nat8f4	T	C	6: 85,878,481 (GRCm39)	H14R	probably benign	Het
Nav1	A	G	1: 135,386,477 (GRCm39)	S1184P	probably damaging	Het
Nckap1	T	A	2: 80,337,278 (GRCm39)	N986I	probably benign	Het
Ndufaf2	C	G	13: 108,189,314 (GRCm39)	A145P	probably damaging	Het
Nop9	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	14: 55,983,859 (GRCm39)		probably benign	Het
Nphp4	G	A	4: 152,639,003 (GRCm39)	R878K	probably benign	Het
Nutm1	G	A	2: 112,079,281 (GRCm39)	A878V	probably benign	Het
Or4f56	A	T	2: 111,703,395 (GRCm39)	D268E	possibly damaging	Het
Or52e8b	A	C	7: 104,673,737 (GRCm39)	I150S	probably damaging	Het
Or5k1b	G	T	16: 58,580,911 (GRCm39)	F209L	probably damaging	Het
Orc6	T	A	8: 86,029,579 (GRCm39)	I41K	probably damaging	Het
Pikfyve	A	G	1: 65,307,005 (GRCm39)	T1798A	probably benign	Het
Ppp1r14a	A	T	7: 28,991,486 (GRCm39)	E98V	possibly damaging	Het
Prpf8	T	A	11: 75,383,331 (GRCm39)	D521E	probably damaging	Het
Pudp	A	G	18: 50,701,136 (GRCm39)	V199A	probably damaging	Het
Rab3c	T	C	13: 110,198,434 (GRCm39)	E198G	probably benign	Het
Ramac	T	A	7: 81,418,163 (GRCm39)	W73R	probably damaging	Het
Rbl2	A	G	8: 91,812,196 (GRCm39)	Y255C	probably damaging	Het
Rbm12	T	C	2: 155,938,484 (GRCm39)	D596G	possibly damaging	Het
Sipa1l3	A	G	7: 29,077,066 (GRCm39)	V902A	probably damaging	Het
Slc37a3	T	G	6: 39,314,157 (GRCm39)	Q485P	probably benign	Het
Slc44a3	T	C	3: 121,320,723 (GRCm39)	T93A	possibly damaging	Het
Slc66a1	G	T	4: 139,027,312 (GRCm39)	H343Q	probably benign	Het
Sun3	G	A	11: 8,988,266 (GRCm39)	L19F	probably benign	Het
Tas2r125	A	G	6: 132,886,866 (GRCm39)	I85V	probably benign	Het
Tenm4	A	C	7: 96,423,253 (GRCm39)	K683Q	probably damaging	Het
Tmprss11d	C	T	5: 86,454,140 (GRCm39)	V222M	probably damaging	Het
Tnip1	A	C	11: 54,806,365 (GRCm39)	S570A	possibly damaging	Het
Top1mt	G	A	15: 75,529,552 (GRCm39)	P554S	probably damaging	Het
Top1mt	A	G	15: 75,547,880 (GRCm39)	F69L	possibly damaging	Het
Ttc7	A	G	17: 87,648,325 (GRCm39)	K508R	probably benign	Het
Ttll4	A	T	1: 74,718,166 (GRCm39)	T6S	possibly damaging	Het
Xpo5	T	C	17: 46,533,643 (GRCm39)	Y500H	possibly damaging	Het
Xpot	C	T	10: 121,450,968 (GRCm39)		probably null	Het
Zbbx	T	C	3: 74,992,348 (GRCm39)	I268V	probably benign	Het
Zbtb40	G	A	4: 136,734,408 (GRCm39)	P360S	probably damaging	Het
Zfp324	T	C	7: 12,705,233 (GRCm39)	L474P	probably damaging	Het
Zfp398	A	G	6: 47,817,186 (GRCm39)	T9A	probably benign	Het
Zfp692	A	C	11: 58,200,997 (GRCm39)	S293R	probably null	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
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
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'- TGAAGGATTACCACTAGCCACC -3'
(R):5'- CAGGTCTTCTCATATAGCCAGC -3'

Sequencing Primer
(F):5'- ACTAGCCACCCCAGCTCTTTTG -3'
(R):5'- GGTCTTCTCATATAGCCAGCAATTG -3'

Posted On

2015-12-29