Mutagenetix > Incidental Mutation

Incidental Mutation 'R0718:Arhgap5'

63722

Institutional Source

Beutler Lab

Gene Symbol

Arhgap5

Ensembl Gene

ENSMUSG00000035133

Gene Name

Rho GTPase activating protein 5

Synonyms

p190B, p190-B

MMRRC Submission

038900-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0718 (G1)

Quality Score

114

Status

Validated

Chromosome

Chromosomal Location

52503972-52571975 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52516507 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 87 (E87G)

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: E87G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106353
Gene: ENSMUSG00000035133
AA Change: E87G

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: E87G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.3311

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (96/96)

MGI Phenotype

Strain: 2179998
Lethality: D1-D2
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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	A	T	3: 95,679,608 (GRCm38)	Y811N	possibly damaging	Het
Adrm1	T	C	2: 180,175,147 (GRCm38)		probably benign	Het
Alms1	T	A	6: 85,621,821 (GRCm38)	S1210T	probably benign	Het
Ampd3	C	T	7: 110,777,808 (GRCm38)	P11L	probably damaging	Het
Armc5	C	T	7: 128,240,070 (GRCm38)		probably benign	Het
Asic2	C	G	11: 80,971,456 (GRCm38)		probably benign	Het
Asph	A	G	4: 9,514,683 (GRCm38)		probably benign	Het
Bicd2	T	A	13: 49,377,875 (GRCm38)		probably null	Het
Brip1	A	G	11: 86,143,305 (GRCm38)	L530P	possibly damaging	Het
Bsn	G	T	9: 108,111,360 (GRCm38)		probably benign	Het
Btnl4	T	A	17: 34,469,634 (GRCm38)	H390L	probably benign	Het
Ccdc70	A	C	8: 21,973,308 (GRCm38)	K38T	probably damaging	Het
Ccni	G	A	5: 93,202,316 (GRCm38)	P35S	probably benign	Het
Cdh17	A	G	4: 11,810,451 (GRCm38)	D714G	possibly damaging	Het
Cenpf	A	G	1: 189,653,984 (GRCm38)	L2033P	probably damaging	Het
Cfap69	A	T	5: 5,621,924 (GRCm38)	M328K	probably damaging	Het
Cmah	T	G	13: 24,417,210 (GRCm38)		probably null	Het
Cog6	T	C	3: 53,010,629 (GRCm38)	T163A	probably benign	Het
Cyp2j8	G	A	4: 96,501,196 (GRCm38)	S130F	probably benign	Het
Dgki	A	G	6: 37,012,896 (GRCm38)	V636A	probably damaging	Het
Dmkn	T	A	7: 30,764,786 (GRCm38)		probably benign	Het
Dnah6	A	G	6: 73,035,293 (GRCm38)	I3679T	possibly damaging	Het
Dsp	A	T	13: 38,196,764 (GRCm38)	Y2495F	possibly damaging	Het
Exosc4	C	T	15: 76,329,489 (GRCm38)	A171V	probably benign	Het
Fbxw24	A	G	9: 109,623,509 (GRCm38)		probably benign	Het
Flvcr1	A	T	1: 191,025,582 (GRCm38)	L171Q	probably damaging	Het
Fsd1	G	T	17: 55,996,445 (GRCm38)		probably null	Het
Gm7732	A	G	17: 21,129,844 (GRCm38)		noncoding transcript	Het
H2-K2	A	C	17: 33,975,623 (GRCm38)		noncoding transcript	Het
Hgf	A	G	5: 16,593,859 (GRCm38)	N295S	probably damaging	Het
Ift88	T	A	14: 57,517,413 (GRCm38)	D811E	probably benign	Het
Igsf9b	T	A	9: 27,323,361 (GRCm38)		probably null	Het
Immt	T	A	6: 71,863,172 (GRCm38)	V311E	probably damaging	Het
Ipo11	T	A	13: 106,919,611 (GRCm38)	N51I	possibly damaging	Het
Isy1	T	C	6: 87,819,176 (GRCm38)	K260E	probably damaging	Het
Jchain	T	G	5: 88,526,202 (GRCm38)	I28L	probably benign	Het
Jmjd1c	T	A	10: 67,218,946 (GRCm38)		probably null	Het
Kif13b	T	C	14: 64,751,662 (GRCm38)		probably benign	Het
Klhdc7b	T	C	15: 89,388,169 (GRCm38)	Y427H	possibly damaging	Het
Klhl8	T	C	5: 103,876,293 (GRCm38)		probably benign	Het
Lrp2	C	T	2: 69,510,948 (GRCm38)	D963N	probably damaging	Het
Ltbp3	G	T	19: 5,746,748 (GRCm38)		probably benign	Het
Ltf	C	A	9: 111,040,379 (GRCm38)	Q41K	probably benign	Het
Med4	T	A	14: 73,516,657 (GRCm38)	I148N	probably damaging	Het
Mlh3	T	G	12: 85,247,697 (GRCm38)	S1242R	possibly damaging	Het
Mllt6	T	C	11: 97,676,359 (GRCm38)		probably benign	Het
Mpdz	A	G	4: 81,292,473 (GRCm38)	I1712T	possibly damaging	Het
Mrgprb4	T	A	7: 48,198,553 (GRCm38)	H209L	probably benign	Het
Nkapl	A	T	13: 21,468,440 (GRCm38)	M1K	probably null	Het
Nmur2	T	A	11: 56,029,498 (GRCm38)		probably benign	Het
Nsun2	T	A	13: 69,543,697 (GRCm38)		probably benign	Het
Or10ag60	A	G	2: 87,607,927 (GRCm38)	I180V	probably benign	Het
Or8k35	G	A	2: 86,594,081 (GRCm38)	T249I	probably benign	Het
Ovgp1	T	C	3: 105,974,830 (GRCm38)		probably benign	Het
Pcdh8	A	G	14: 79,770,691 (GRCm38)	V144A	possibly damaging	Het
Pcnx3	G	A	19: 5,677,728 (GRCm38)		probably benign	Het
Pla2r1	C	A	2: 60,479,530 (GRCm38)	V570L	possibly damaging	Het
Plxnd1	C	A	6: 115,966,638 (GRCm38)	E1202D	possibly damaging	Het
Ppp1r37	T	C	7: 19,532,254 (GRCm38)	E529G	probably benign	Het
Prdm15	A	G	16: 97,812,633 (GRCm38)	F496L	possibly damaging	Het
Prlhr	A	T	19: 60,468,005 (GRCm38)	V41D	probably benign	Het
Prlhr	G	T	19: 60,468,059 (GRCm38)	S23*	probably null	Het
Prpf4	C	T	4: 62,414,540 (GRCm38)		probably benign	Het
Psg26	T	C	7: 18,478,287 (GRCm38)	H381R	probably benign	Het
Psg26	C	T	7: 18,475,235 (GRCm38)	R416H	probably benign	Het
Ralgds	T	G	2: 28,549,116 (GRCm38)	M717R	probably benign	Het
Rbms1	T	C	2: 60,842,412 (GRCm38)	N44D	probably damaging	Het
Rpa1	T	C	11: 75,318,401 (GRCm38)		probably benign	Het
Rprd2	T	C	3: 95,766,387 (GRCm38)	N568S	probably benign	Het
Rptor	A	G	11: 119,872,376 (GRCm38)	M929V	probably benign	Het
Rspo1	T	A	4: 125,007,149 (GRCm38)	C97S	possibly damaging	Het
Scin	C	T	12: 40,079,607 (GRCm38)	G396S	probably damaging	Het
Scn9a	T	C	2: 66,547,112 (GRCm38)	N409D	probably damaging	Het
Sf3b1	A	G	1: 55,019,385 (GRCm38)	I15T	probably damaging	Het
Sh3bp2	T	C	5: 34,555,495 (GRCm38)	V149A	probably damaging	Het
Slc39a12	T	A	2: 14,407,426 (GRCm38)		probably benign	Het
Sp9	G	T	2: 73,273,827 (GRCm38)	A242S	possibly damaging	Het
Srr	A	G	11: 74,911,065 (GRCm38)	V126A	possibly damaging	Het
Tatdn3	G	T	1: 191,052,849 (GRCm38)		probably benign	Het
Tex14	G	A	11: 87,499,613 (GRCm38)	V379I	probably benign	Het
Tmed6	T	C	8: 107,061,724 (GRCm38)	N197S	probably damaging	Het
Ttbk2	G	A	2: 120,748,575 (GRCm38)	L689F	probably benign	Het
Ttbk2	A	T	2: 120,745,160 (GRCm38)	I1043N	probably benign	Het
Ttn	A	G	2: 76,810,696 (GRCm38)	S5283P	probably damaging	Het
Ube3b	C	A	5: 114,402,555 (GRCm38)	S441*	probably null	Het
Ush2a	G	A	1: 188,797,830 (GRCm38)	C3272Y	probably damaging	Het
Vac14	T	A	8: 110,632,477 (GRCm38)	I95K	probably damaging	Het
Vangl2	G	A	1: 172,006,217 (GRCm38)	A433V	probably damaging	Het
Vwa5b1	A	T	4: 138,608,824 (GRCm38)	V153D	probably damaging	Het
Zfhx3	T	A	8: 108,955,650 (GRCm38)	D3240E	unknown	Het
Zfp945	A	G	17: 22,851,030 (GRCm38)	C632R	probably damaging	Het
Zfyve26	G	A	12: 79,265,802 (GRCm38)		probably benign	Het
Zyg11b	A	T	4: 108,242,076 (GRCm38)	I606N	possibly damaging	Het

Other mutations in Arhgap5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00679:Arhgap5	APN	12	52,517,281 (GRCm38)	missense	probably damaging	0.98
IGL00823:Arhgap5	APN	12	52,518,742 (GRCm38)	missense	possibly damaging	0.84
IGL01161:Arhgap5	APN	12	52,516,860 (GRCm38)	missense	probably damaging	1.00
IGL01360:Arhgap5	APN	12	52,518,240 (GRCm38)	missense	probably damaging	1.00
IGL01910:Arhgap5	APN	12	52,516,861 (GRCm38)	missense	probably benign	0.33
IGL02417:Arhgap5	APN	12	52,518,353 (GRCm38)	missense	probably damaging	0.99
IGL02448:Arhgap5	APN	12	52,562,340 (GRCm38)	missense	probably damaging	0.97
IGL02813:Arhgap5	APN	12	52,516,965 (GRCm38)	missense	probably benign	0.20
IGL03398:Arhgap5	APN	12	52,517,311 (GRCm38)	missense	probably damaging	0.99
Decline	UTSW	12	52,516,582 (GRCm38)	nonsense	probably null
Pass	UTSW	12	52,516,507 (GRCm38)	missense	possibly damaging	0.82
3-1:Arhgap5	UTSW	12	52,518,882 (GRCm38)	missense	possibly damaging	0.54
R0039:Arhgap5	UTSW	12	52,518,735 (GRCm38)	nonsense	probably null
R0088:Arhgap5	UTSW	12	52,516,548 (GRCm38)	missense	probably damaging	1.00
R0104:Arhgap5	UTSW	12	52,516,717 (GRCm38)	missense	probably damaging	1.00
R0111:Arhgap5	UTSW	12	52,559,960 (GRCm38)	splice site	probably benign
R0356:Arhgap5	UTSW	12	52,516,308 (GRCm38)	missense	probably damaging	1.00
R0616:Arhgap5	UTSW	12	52,517,065 (GRCm38)	missense	possibly damaging	0.79
R0707:Arhgap5	UTSW	12	52,518,168 (GRCm38)	missense	probably damaging	1.00
R0849:Arhgap5	UTSW	12	52,519,623 (GRCm38)	missense	probably benign	0.01
R0975:Arhgap5	UTSW	12	52,517,144 (GRCm38)	missense	possibly damaging	0.61
R1326:Arhgap5	UTSW	12	52,518,370 (GRCm38)	missense	possibly damaging	0.80
R1421:Arhgap5	UTSW	12	52,516,848 (GRCm38)	missense	probably damaging	1.00
R1422:Arhgap5	UTSW	12	52,519,514 (GRCm38)	missense	probably damaging	1.00
R1625:Arhgap5	UTSW	12	52,517,376 (GRCm38)	missense	probably benign
R1711:Arhgap5	UTSW	12	52,519,345 (GRCm38)	missense	probably damaging	1.00
R1970:Arhgap5	UTSW	12	52,542,593 (GRCm38)	missense	probably damaging	1.00
R2004:Arhgap5	UTSW	12	52,518,034 (GRCm38)	missense	probably benign	0.05
R2356:Arhgap5	UTSW	12	52,519,147 (GRCm38)	missense	probably benign	0.00
R3792:Arhgap5	UTSW	12	52,519,888 (GRCm38)	missense	probably benign	0.21
R3808:Arhgap5	UTSW	12	52,567,187 (GRCm38)	missense	possibly damaging	0.72
R4458:Arhgap5	UTSW	12	52,517,957 (GRCm38)	missense	probably benign
R4703:Arhgap5	UTSW	12	52,517,583 (GRCm38)	missense	probably damaging	0.99
R4736:Arhgap5	UTSW	12	52,519,077 (GRCm38)	missense	probably benign	0.00
R4737:Arhgap5	UTSW	12	52,519,077 (GRCm38)	missense	probably benign	0.00
R4740:Arhgap5	UTSW	12	52,519,077 (GRCm38)	missense	probably benign	0.00
R4768:Arhgap5	UTSW	12	52,557,492 (GRCm38)	missense	probably damaging	1.00
R4806:Arhgap5	UTSW	12	52,518,703 (GRCm38)	missense	probably damaging	0.99
R4817:Arhgap5	UTSW	12	52,519,209 (GRCm38)	missense	possibly damaging	0.71
R5586:Arhgap5	UTSW	12	52,519,912 (GRCm38)	missense	possibly damaging	0.95
R5681:Arhgap5	UTSW	12	52,519,779 (GRCm38)	missense	probably benign	0.21
R5683:Arhgap5	UTSW	12	52,519,586 (GRCm38)	missense	probably benign
R5911:Arhgap5	UTSW	12	52,518,742 (GRCm38)	missense	possibly damaging	0.84
R6448:Arhgap5	UTSW	12	52,517,663 (GRCm38)	missense	probably benign	0.11
R6887:Arhgap5	UTSW	12	52,519,144 (GRCm38)	missense	probably benign
R6988:Arhgap5	UTSW	12	52,518,125 (GRCm38)	missense	possibly damaging	0.94
R7009:Arhgap5	UTSW	12	52,519,639 (GRCm38)	missense	probably benign	0.03
R7013:Arhgap5	UTSW	12	52,518,326 (GRCm38)	missense	probably benign	0.05
R7239:Arhgap5	UTSW	12	52,517,376 (GRCm38)	missense	probably benign
R7310:Arhgap5	UTSW	12	52,542,487 (GRCm38)	critical splice acceptor site	probably null
R7339:Arhgap5	UTSW	12	52,517,698 (GRCm38)	missense	possibly damaging	0.64
R7375:Arhgap5	UTSW	12	52,516,582 (GRCm38)	nonsense	probably null
R7421:Arhgap5	UTSW	12	52,518,000 (GRCm38)	missense	probably benign	0.42
R7442:Arhgap5	UTSW	12	52,516,956 (GRCm38)	missense	probably benign	0.25
R7842:Arhgap5	UTSW	12	52,518,697 (GRCm38)	missense	possibly damaging	0.78
R8079:Arhgap5	UTSW	12	52,567,205 (GRCm38)	missense	probably benign
R8241:Arhgap5	UTSW	12	52,518,315 (GRCm38)	missense	probably benign	0.00
R8419:Arhgap5	UTSW	12	52,518,789 (GRCm38)	missense	probably damaging	1.00
R9138:Arhgap5	UTSW	12	52,562,363 (GRCm38)	missense	probably benign	0.05
X0018:Arhgap5	UTSW	12	52,518,397 (GRCm38)	missense	probably damaging	1.00
Z1176:Arhgap5	UTSW	12	52,518,463 (GRCm38)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TCAGTGTAGTTGGACTCTCTGGGAC -3'
(R):5'- AGGCAAAGGCTTGAACTTCTCTAAGG -3'

Sequencing Primer
(F):5'- TTGGACTCTCTGGGACTGAAAAAG -3'
(R):5'- AGTTGCTGCTATTATCACAGGC -3'

Posted On

2013-07-30