Mutagenetix > Incidental Mutation

Incidental Mutation 'R4817:Arhgap5'

369932

Institutional Source

Beutler Lab

Gene Symbol

Arhgap5

Ensembl Gene

ENSMUSG00000035133

Gene Name

Rho GTPase activating protein 5

Synonyms

p190B, p190-B

MMRRC Submission

042435-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4817 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52550755-52618758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 52565992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 988 (P988S)

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: P988S

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106353
Gene: ENSMUSG00000035133
AA Change: P988S

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: P988S

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.0863

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (108/112)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp2	T	A	2: 91,033,963 (GRCm39)	D44E	probably damaging	Het
Acp5	T	C	9: 22,038,379 (GRCm39)	I307M	probably benign	Het
Ahsa1	A	G	12: 87,319,940 (GRCm39)	D245G	possibly damaging	Het
Ankrd40	A	G	11: 94,230,459 (GRCm39)	K316E	probably benign	Het
Apol9b	G	A	15: 77,620,088 (GRCm39)	E295K	possibly damaging	Het
Aqp4	C	A	18: 15,532,815 (GRCm39)	G93C	probably damaging	Het
Arhgap21	A	G	2: 20,854,967 (GRCm39)	V1465A	probably benign	Het
Asxl3	A	C	18: 22,658,511 (GRCm39)	K2174Q	probably damaging	Het
Brf1	A	T	12: 112,935,921 (GRCm39)	I250N	probably damaging	Het
Calm1	A	G	12: 100,169,832 (GRCm39)		probably null	Het
Ccdc33	C	T	9: 57,974,818 (GRCm39)	V352M	probably damaging	Het
Ccdc88a	G	T	11: 29,410,907 (GRCm39)	K464N	probably benign	Het
Cdadc1	AGACGGA	AGA	14: 59,806,440 (GRCm39)		probably null	Het
Cdc25b	T	A	2: 131,035,223 (GRCm39)	I327N	probably damaging	Het
Cenpf	G	A	1: 189,414,566 (GRCm39)	H184Y	possibly damaging	Het
Cimap1d	G	A	10: 79,475,851 (GRCm39)	P238S	probably damaging	Het
Col6a5	G	A	9: 105,811,497 (GRCm39)	T674I	unknown	Het
Creg2	A	T	1: 39,662,358 (GRCm39)	M258K	probably damaging	Het
Csf3r	T	A	4: 125,931,449 (GRCm39)	Y477*	probably null	Het
Cyp3a44	T	A	5: 145,740,565 (GRCm39)	Y25F	possibly damaging	Het
Degs2	T	A	12: 108,655,325 (GRCm39)	R283*	probably null	Het
Dido1	T	C	2: 180,303,209 (GRCm39)	N1565S	probably benign	Het
Dnah6	A	T	6: 72,999,407 (GRCm39)	M4008K	probably benign	Het
Dnmbp	C	A	19: 43,838,411 (GRCm39)	G1138V	probably benign	Het
Drosha	A	C	15: 12,914,133 (GRCm39)	H1136P	probably damaging	Het
Duox2	T	G	2: 122,126,996 (GRCm39)	N173T	probably damaging	Het
Dync1li1	T	G	9: 114,534,162 (GRCm39)	I87M	probably benign	Het
E2f8	A	C	7: 48,517,494 (GRCm39)	S770A	probably benign	Het
Efemp1	A	G	11: 28,876,241 (GRCm39)	T469A	probably damaging	Het
Eif3f	A	T	7: 108,536,982 (GRCm39)	T136S	probably damaging	Het
Enpp5	T	C	17: 44,391,871 (GRCm39)	*46R	probably null	Het
Epb41l4b	A	G	4: 57,103,428 (GRCm39)	V136A	probably damaging	Het
Fam186a	A	C	15: 99,831,419 (GRCm39)		probably benign	Het
Flt4	A	G	11: 49,516,242 (GRCm39)	Y115C	probably damaging	Het
Gal	T	A	19: 3,461,126 (GRCm39)		probably null	Het
Galnt3	C	T	2: 65,923,883 (GRCm39)	V462I	possibly damaging	Het
Gas2l1	A	G	11: 5,011,429 (GRCm39)	S467P	possibly damaging	Het
Gbx1	A	G	5: 24,731,204 (GRCm39)	L204P	probably damaging	Het
Gle1	T	A	2: 29,826,223 (GRCm39)	S101T	probably benign	Het
Gltpd2	A	C	11: 70,410,303 (GRCm39)	Q87P	probably damaging	Het
Gm12789	T	A	4: 101,846,079 (GRCm39)	D113E	probably damaging	Het
Grin3b	G	A	10: 79,812,732 (GRCm39)	G936R	probably benign	Het
Gtf3c2	C	T	5: 31,331,434 (GRCm39)		probably null	Het
Gvin3	T	A	7: 106,200,437 (GRCm39)		noncoding transcript	Het
Klhl28	T	C	12: 65,004,043 (GRCm39)	T157A	probably benign	Het
Kmt2a	A	G	9: 44,732,763 (GRCm39)		probably benign	Het
Lamp1	A	G	8: 13,222,541 (GRCm39)	T242A	probably benign	Het
Lhfpl5	T	G	17: 28,795,300 (GRCm39)	I109S	possibly damaging	Het
Lhfpl5	T	A	17: 28,801,962 (GRCm39)	*220R	probably null	Het
Map4k2	C	T	19: 6,394,459 (GRCm39)	T313I	probably damaging	Het
Matn2	A	G	15: 34,423,945 (GRCm39)	D601G	probably damaging	Het
Mcur1	C	T	13: 43,705,147 (GRCm39)	V170M	possibly damaging	Het
Mphosph10	T	C	7: 64,041,969 (GRCm39)		probably benign	Het
Nat8l	G	A	5: 34,158,387 (GRCm39)	A266T	probably benign	Het
Nckap5	G	T	1: 125,954,952 (GRCm39)	D469E	possibly damaging	Het
Nckap5l	G	T	15: 99,321,067 (GRCm39)	P1238T	probably damaging	Het
Ngf	A	G	3: 102,417,156 (GRCm39)		probably benign	Het
Ntng1	T	A	3: 109,842,184 (GRCm39)	L196F	probably damaging	Het
Or2q1	A	G	6: 42,794,896 (GRCm39)	I164V	possibly damaging	Het
Or2v2	A	T	11: 49,004,448 (GRCm39)	V35D	probably damaging	Het
Pclo	A	T	5: 14,725,045 (GRCm39)	Y1301F	unknown	Het
Pclo	A	G	5: 14,763,139 (GRCm39)	T3871A	unknown	Het
Peli3	T	C	19: 4,982,594 (GRCm39)	E357G	probably damaging	Het
Pkd1	T	A	17: 24,784,348 (GRCm39)		probably null	Het
Pla2g2c	T	G	4: 138,461,645 (GRCm39)	F38C	probably damaging	Het
Plekha2	T	A	8: 25,549,960 (GRCm39)	T126S	possibly damaging	Het
Polr3f	T	A	2: 144,376,001 (GRCm39)	*142K	probably null	Het
Ppcs	C	T	4: 119,276,343 (GRCm39)	V81M	probably benign	Het
Prl7a1	A	G	13: 27,819,747 (GRCm39)	I169T	probably damaging	Het
Rbm19	C	A	5: 120,271,799 (GRCm39)		probably benign	Het
Rdh7	T	A	10: 127,721,631 (GRCm39)	Y215F	probably benign	Het
Rragd	T	G	4: 32,995,072 (GRCm39)	S62R	probably benign	Het
Rtel1	T	C	2: 180,997,728 (GRCm39)	S1114P	possibly damaging	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Setbp1	A	G	18: 78,902,015 (GRCm39)	S551P	probably damaging	Het
Setd6	T	C	8: 96,443,683 (GRCm39)		probably benign	Het
Slmap	A	C	14: 26,183,507 (GRCm39)	M292R	probably damaging	Het
Srrm4	T	C	5: 116,615,193 (GRCm39)	D97G	unknown	Het
Stk-ps2	G	A	1: 46,068,125 (GRCm39)		noncoding transcript	Het
Syce1	A	T	7: 140,358,336 (GRCm39)	M204K	probably benign	Het
Syk	A	G	13: 52,765,242 (GRCm39)	K123R	probably benign	Het
Tbc1d14	A	T	5: 36,729,175 (GRCm39)	S64T	probably damaging	Het
Tmt1a3	A	T	15: 100,233,214 (GRCm39)	D135V	probably damaging	Het
Traf3ip3	T	C	1: 192,867,137 (GRCm39)	K295E	probably damaging	Het
Trp53bp2	T	C	1: 182,269,370 (GRCm39)		probably null	Het
Tsc2	T	A	17: 24,815,716 (GRCm39)		probably null	Het
Tspyl4	T	A	10: 34,173,734 (GRCm39)	C75*	probably null	Het
Uqcc2	T	C	17: 27,344,133 (GRCm39)	I52V	probably benign	Het
Vcp	T	A	4: 42,983,486 (GRCm39)	T525S	probably damaging	Het
Vmn2r18	A	T	5: 151,508,897 (GRCm39)		probably null	Het
Vmp1	A	G	11: 86,492,879 (GRCm39)	V310A	probably benign	Het
Vps13d	T	A	4: 144,795,735 (GRCm39)	R3671S	probably damaging	Het
Wdr3	T	C	3: 100,053,861 (GRCm39)	T544A	possibly damaging	Het
Zc3h14	C	G	12: 98,719,107 (GRCm39)	D157E	probably damaging	Het
Zfp541	T	A	7: 15,824,307 (GRCm39)	F1010I	probably damaging	Het
Zfp64	T	C	2: 168,768,032 (GRCm39)	T527A	probably benign	Het
Zyx	G	T	6: 42,333,421 (GRCm39)	R449M	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
R0616:Arhgap5	UTSW	12	52,563,848 (GRCm39)	missense	possibly damaging	0.79
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
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'- TAGGCAAACTGAGGTTTTCACTTTG -3'
(R):5'- ACCCGGGAAGTCTGTTTTCTTG -3'

Sequencing Primer
(F):5'- AACTGAGGTTTTCACTTTGTTTTTC -3'
(R):5'- TCTTGGATTTTTACCAATACCAGC -3'

Posted On

2016-02-04