Mutagenetix > Incidental Mutation

Incidental Mutation 'R0616:Arhgap5'

58346

Institutional Source

Beutler Lab

Gene Symbol

Arhgap5

Ensembl Gene

ENSMUSG00000035133

Gene Name

Rho GTPase activating protein 5

Synonyms

p190B, p190-B

MMRRC Submission

038805-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0616 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52550755-52618758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 52563848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 273 (T273I)

Ref Sequence

ENSEMBL: ENSMUSP00000151809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110725] [ENSMUST00000217820] [ENSMUST00000219443]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110725
AA Change: T273I

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106353
Gene: ENSMUSG00000035133
AA Change: T273I

Domain	Start	End	E-Value	Type
Pfam:Ras	142	248	5.3e-7	PFAM
FF	269	325	6.03e-12	SMART
FF	367	420	4.61e-8	SMART
FF	427	482	2.22e-10	SMART
FF	483	537	3.89e-6	SMART
low complexity region	1035	1053	N/A	INTRINSIC
low complexity region	1224	1247	N/A	INTRINSIC
RhoGAP	1273	1447	1.03e-73	SMART
low complexity region	1479	1496	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000217820

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218869

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219443
AA Change: T273I

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes die at birth, are 30% smaller, do not inflate their lungs, and show a small thymus, abnormal adipocyte differentiation and brain defects in the corpus callosum, anterior commissure and lateral ventricles. Mutant MEFs show impaired adipogenesis but undergo myogenesis in response to IGF-1. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted, knock-out(1) Gene trapped(3)

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,341,830 (GRCm39)	Q1044K	probably damaging	Het
Abi3bp	A	T	16: 56,474,433 (GRCm39)	T723S	probably damaging	Het
Ackr3	G	A	1: 90,142,191 (GRCm39)	V217I	probably benign	Het
Acnat2	A	G	4: 49,380,269 (GRCm39)	S370P	probably damaging	Het
Arap1	A	G	7: 101,050,857 (GRCm39)	R1152G	possibly damaging	Het
Arhgap15	G	A	2: 44,006,729 (GRCm39)		probably null	Het
Armh4	G	T	14: 50,011,113 (GRCm39)	T198K	possibly damaging	Het
C1s2	T	C	6: 124,605,723 (GRCm39)	E332G	probably damaging	Het
Camp	G	A	9: 109,677,707 (GRCm39)	R88W	probably benign	Het
Cdkl2	A	G	5: 92,156,863 (GRCm39)	M564T	probably benign	Het
Ceacam20	A	G	7: 19,704,321 (GRCm39)	H124R	probably benign	Het
Cep19	C	T	16: 31,922,829 (GRCm39)	R32C	probably damaging	Het
Cep295	G	A	9: 15,243,618 (GRCm39)	Q1565*	probably null	Het
Chd3	T	C	11: 69,236,313 (GRCm39)	E1932G	probably damaging	Het
Cibar1	G	A	4: 12,168,234 (GRCm39)	R210*	probably null	Het
Cnr2	G	T	4: 135,644,873 (GRCm39)	W317L	probably benign	Het
Cntnap5a	C	T	1: 116,508,279 (GRCm39)	H1264Y	possibly damaging	Het
Depdc7	T	A	2: 104,557,650 (GRCm39)	N200I	probably benign	Het
Dock4	T	C	12: 40,754,414 (GRCm39)	S468P	probably benign	Het
Dscc1	C	A	15: 54,946,966 (GRCm39)	C253F	probably benign	Het
Fam217a	C	A	13: 35,097,666 (GRCm39)	S55I	probably benign	Het
Farp1	G	A	14: 121,514,434 (GRCm39)	R921H	probably damaging	Het
Fat4	A	G	3: 38,997,019 (GRCm39)	D1746G	probably damaging	Het
Fbxw5	T	C	2: 25,392,517 (GRCm39)	F100L	probably damaging	Het
Gli3	C	A	13: 15,836,991 (GRCm39)	T458K	possibly damaging	Het
Gm4841	T	C	18: 60,404,009 (GRCm39)	Y28C	probably benign	Het
Gprc5d	T	C	6: 135,093,430 (GRCm39)	E159G	probably benign	Het
Grm4	A	T	17: 27,653,538 (GRCm39)	I757N	probably damaging	Het
Hagh	A	G	17: 25,076,551 (GRCm39)	Y94C	probably damaging	Het
Hycc1	T	C	5: 24,191,770 (GRCm39)	T44A	probably damaging	Het
Itpkb	T	C	1: 180,249,301 (GRCm39)	I892T	probably damaging	Het
Kcmf1	T	C	6: 72,827,467 (GRCm39)	I58V	probably benign	Het
Khdrbs2	A	G	1: 32,506,856 (GRCm39)	I167V	possibly damaging	Het
Kmt2c	A	G	5: 25,504,250 (GRCm39)	I275T	probably benign	Het
Lingo4	A	G	3: 94,310,388 (GRCm39)	K442R	probably benign	Het
Mak	T	C	13: 41,195,661 (GRCm39)	N382D	probably benign	Het
Maob	G	A	X: 16,576,402 (GRCm39)	T480I	possibly damaging	Het
Mcoln1	A	G	8: 3,565,025 (GRCm39)	E573G	probably benign	Het
Ms4a6b	G	A	19: 11,504,262 (GRCm39)		probably null	Het
Muc5ac	A	G	7: 141,349,981 (GRCm39)	M576V	probably benign	Het
Nme8	T	A	13: 19,875,029 (GRCm39)	D126V	probably benign	Het
Npy2r	T	A	3: 82,448,670 (GRCm39)	D35V	possibly damaging	Het
Nrxn1	T	C	17: 90,670,285 (GRCm39)	D193G	probably damaging	Het
Or2g7	A	C	17: 38,378,131 (GRCm39)	E23A	probably damaging	Het
Or2y1e	T	C	11: 49,218,583 (GRCm39)	L115P	probably damaging	Het
Or4c10b	T	A	2: 89,711,935 (GRCm39)	V255E	probably benign	Het
Or4d5	A	T	9: 40,012,283 (GRCm39)	F168I	probably damaging	Het
Or52b4i	T	A	7: 102,191,761 (GRCm39)	M206K	possibly damaging	Het
Or6d14	A	G	6: 116,533,889 (GRCm39)	I168V	probably benign	Het
Or8b3b	A	T	9: 38,584,776 (GRCm39)	M1K	probably null	Het
Or8c17	G	T	9: 38,180,630 (GRCm39)	V266L	probably benign	Het
Or8g18	G	A	9: 39,148,946 (GRCm39)	T258M	probably benign	Het
Pabpc2	A	T	18: 39,906,792 (GRCm39)	H19L	possibly damaging	Het
Pcdhb9	A	T	18: 37,535,028 (GRCm39)	K341*	probably null	Het
Pde4dip	T	C	3: 97,654,849 (GRCm39)	I859M	probably benign	Het
Pfkfb2	T	C	1: 130,634,159 (GRCm39)		probably null	Het
Pigg	C	T	5: 108,461,951 (GRCm39)	T94M	probably damaging	Het
Pik3c2b	T	C	1: 133,028,569 (GRCm39)	F1353L	probably damaging	Het
Prg4	T	C	1: 150,336,462 (GRCm39)	D87G	probably damaging	Het
Prkdc	A	T	16: 15,508,271 (GRCm39)	D974V	probably damaging	Het
Prmt3	A	G	7: 49,437,076 (GRCm39)	Y217C	probably damaging	Het
Proser1	A	G	3: 53,382,118 (GRCm39)	T192A	probably damaging	Het
Rab3d	G	A	9: 21,826,060 (GRCm39)	T118M	probably damaging	Het
Rb1cc1	A	G	1: 6,314,486 (GRCm39)	K386R	possibly damaging	Het
Rcn2	A	G	9: 55,963,534 (GRCm39)	D221G	probably benign	Het
Rhbdl3	T	G	11: 80,222,687 (GRCm39)	H245Q	probably damaging	Het
Ribc1	T	C	X: 150,788,787 (GRCm39)	E204G	probably damaging	Het
Rpap1	G	A	2: 119,608,601 (GRCm39)	L254F	probably damaging	Het
Rrp12	A	G	19: 41,880,988 (GRCm39)	F148L	possibly damaging	Het
Rusf1	A	T	7: 127,871,803 (GRCm39)		probably null	Het
Setdb1	A	T	3: 95,249,109 (GRCm39)	I333K	probably damaging	Het
Simc1	A	G	13: 54,694,845 (GRCm39)	I1210V	probably benign	Het
Smchd1	T	A	17: 71,686,569 (GRCm39)	D1379V	probably benign	Het
Snap29	A	T	16: 17,240,370 (GRCm39)	K159*	probably null	Het
Spdye4c	A	T	2: 128,436,132 (GRCm39)	K176M	possibly damaging	Het
Stk31	T	A	6: 49,400,419 (GRCm39)	W415R	probably damaging	Het
Supt6	C	T	11: 78,100,321 (GRCm39)	R1497Q	probably damaging	Het
Tenm3	A	G	8: 48,729,191 (GRCm39)	I1605T	possibly damaging	Het
Ttn	T	C	2: 76,676,967 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,728,011 (GRCm39)		probably benign	Het
Ucp3	A	T	7: 100,129,368 (GRCm39)	T68S	probably benign	Het
Ugt2b36	T	C	5: 87,237,336 (GRCm39)	N316D	probably benign	Het
Usp4	T	G	9: 108,244,003 (GRCm39)	S247A	probably benign	Het
Utp20	A	T	10: 88,606,613 (GRCm39)	V1653D	probably benign	Het
Vmn1r183	A	G	7: 23,754,250 (GRCm39)	I18V	probably benign	Het
Vmn1r237	A	G	17: 21,534,885 (GRCm39)	M203V	probably damaging	Het
Vmn1r61	A	T	7: 5,613,998 (GRCm39)	F105L	possibly damaging	Het
Zfp462	T	C	4: 55,011,951 (GRCm39)	C158R	probably damaging	Het
Zfyve16	C	G	13: 92,657,637 (GRCm39)	R758P	probably damaging	Het

Other mutations in Arhgap5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00679:Arhgap5	APN	12	52,564,064 (GRCm39)	missense	probably damaging	0.98
IGL00823:Arhgap5	APN	12	52,565,525 (GRCm39)	missense	possibly damaging	0.84
IGL01161:Arhgap5	APN	12	52,563,643 (GRCm39)	missense	probably damaging	1.00
IGL01360:Arhgap5	APN	12	52,565,023 (GRCm39)	missense	probably damaging	1.00
IGL01910:Arhgap5	APN	12	52,563,644 (GRCm39)	missense	probably benign	0.33
IGL02417:Arhgap5	APN	12	52,565,136 (GRCm39)	missense	probably damaging	0.99
IGL02448:Arhgap5	APN	12	52,609,123 (GRCm39)	missense	probably damaging	0.97
IGL02813:Arhgap5	APN	12	52,563,748 (GRCm39)	missense	probably benign	0.20
IGL03398:Arhgap5	APN	12	52,564,094 (GRCm39)	missense	probably damaging	0.99
Decline	UTSW	12	52,563,365 (GRCm39)	nonsense	probably null
Pass	UTSW	12	52,563,290 (GRCm39)	missense	possibly damaging	0.82
3-1:Arhgap5	UTSW	12	52,565,665 (GRCm39)	missense	possibly damaging	0.54
R0039:Arhgap5	UTSW	12	52,565,518 (GRCm39)	nonsense	probably null
R0088:Arhgap5	UTSW	12	52,563,331 (GRCm39)	missense	probably damaging	1.00
R0104:Arhgap5	UTSW	12	52,563,500 (GRCm39)	missense	probably damaging	1.00
R0111:Arhgap5	UTSW	12	52,606,743 (GRCm39)	splice site	probably benign
R0356:Arhgap5	UTSW	12	52,563,091 (GRCm39)	missense	probably damaging	1.00
R0707:Arhgap5	UTSW	12	52,564,951 (GRCm39)	missense	probably damaging	1.00
R0718:Arhgap5	UTSW	12	52,563,290 (GRCm39)	missense	possibly damaging	0.82
R0849:Arhgap5	UTSW	12	52,566,406 (GRCm39)	missense	probably benign	0.01
R0975:Arhgap5	UTSW	12	52,563,927 (GRCm39)	missense	possibly damaging	0.61
R1326:Arhgap5	UTSW	12	52,565,153 (GRCm39)	missense	possibly damaging	0.80
R1421:Arhgap5	UTSW	12	52,563,631 (GRCm39)	missense	probably damaging	1.00
R1422:Arhgap5	UTSW	12	52,566,297 (GRCm39)	missense	probably damaging	1.00
R1625:Arhgap5	UTSW	12	52,564,159 (GRCm39)	missense	probably benign
R1711:Arhgap5	UTSW	12	52,566,128 (GRCm39)	missense	probably damaging	1.00
R1970:Arhgap5	UTSW	12	52,589,376 (GRCm39)	missense	probably damaging	1.00
R2004:Arhgap5	UTSW	12	52,564,817 (GRCm39)	missense	probably benign	0.05
R2356:Arhgap5	UTSW	12	52,565,930 (GRCm39)	missense	probably benign	0.00
R3792:Arhgap5	UTSW	12	52,566,671 (GRCm39)	missense	probably benign	0.21
R3808:Arhgap5	UTSW	12	52,613,970 (GRCm39)	missense	possibly damaging	0.72
R4458:Arhgap5	UTSW	12	52,564,740 (GRCm39)	missense	probably benign
R4703:Arhgap5	UTSW	12	52,564,366 (GRCm39)	missense	probably damaging	0.99
R4736:Arhgap5	UTSW	12	52,565,860 (GRCm39)	missense	probably benign	0.00
R4737:Arhgap5	UTSW	12	52,565,860 (GRCm39)	missense	probably benign	0.00
R4740:Arhgap5	UTSW	12	52,565,860 (GRCm39)	missense	probably benign	0.00
R4768:Arhgap5	UTSW	12	52,604,275 (GRCm39)	missense	probably damaging	1.00
R4806:Arhgap5	UTSW	12	52,565,486 (GRCm39)	missense	probably damaging	0.99
R4817:Arhgap5	UTSW	12	52,565,992 (GRCm39)	missense	possibly damaging	0.71
R5586:Arhgap5	UTSW	12	52,566,695 (GRCm39)	missense	possibly damaging	0.95
R5681:Arhgap5	UTSW	12	52,566,562 (GRCm39)	missense	probably benign	0.21
R5683:Arhgap5	UTSW	12	52,566,369 (GRCm39)	missense	probably benign
R5911:Arhgap5	UTSW	12	52,565,525 (GRCm39)	missense	possibly damaging	0.84
R6448:Arhgap5	UTSW	12	52,564,446 (GRCm39)	missense	probably benign	0.11
R6887:Arhgap5	UTSW	12	52,565,927 (GRCm39)	missense	probably benign
R6988:Arhgap5	UTSW	12	52,564,908 (GRCm39)	missense	possibly damaging	0.94
R7009:Arhgap5	UTSW	12	52,566,422 (GRCm39)	missense	probably benign	0.03
R7013:Arhgap5	UTSW	12	52,565,109 (GRCm39)	missense	probably benign	0.05
R7239:Arhgap5	UTSW	12	52,564,159 (GRCm39)	missense	probably benign
R7310:Arhgap5	UTSW	12	52,589,270 (GRCm39)	critical splice acceptor site	probably null
R7339:Arhgap5	UTSW	12	52,564,481 (GRCm39)	missense	possibly damaging	0.64
R7375:Arhgap5	UTSW	12	52,563,365 (GRCm39)	nonsense	probably null
R7421:Arhgap5	UTSW	12	52,564,783 (GRCm39)	missense	probably benign	0.42
R7442:Arhgap5	UTSW	12	52,563,739 (GRCm39)	missense	probably benign	0.25
R7842:Arhgap5	UTSW	12	52,565,480 (GRCm39)	missense	possibly damaging	0.78
R8079:Arhgap5	UTSW	12	52,613,988 (GRCm39)	missense	probably benign
R8241:Arhgap5	UTSW	12	52,565,098 (GRCm39)	missense	probably benign	0.00
R8419:Arhgap5	UTSW	12	52,565,572 (GRCm39)	missense	probably damaging	1.00
R9138:Arhgap5	UTSW	12	52,609,146 (GRCm39)	missense	probably benign	0.05
X0018:Arhgap5	UTSW	12	52,565,180 (GRCm39)	missense	probably damaging	1.00
Z1176:Arhgap5	UTSW	12	52,565,246 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ACCTTAGAGAAGTTCAAGCCTTTGCC -3'
(R):5'- TTCTAAAGTGCTCAGAAGGTCGAATGG -3'

Sequencing Primer
(F):5'- AGTTCAAGCCTTTGCCTCAAAC -3'
(R):5'- ATGGTCAGTTTCATCCCAAGG -3'

Posted On

2013-07-11