Mutagenetix > Incidental Mutation

Incidental Mutation 'R4740:Arhgap5'

359638

Institutional Source

Beutler Lab

Gene Symbol

Arhgap5

Ensembl Gene

ENSMUSG00000035133

Gene Name

Rho GTPase activating protein 5

Synonyms

p190B, p190-B

MMRRC Submission

041965-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4740 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52550755-52618758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52565860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 944 (M944L)

Ref Sequence

ENSEMBL: ENSMUSP00000151809 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000110725
AA Change: M944L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106353
Gene: ENSMUSG00000035133
AA Change: M944L

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

probably benign
Transcript: ENSMUST00000219443
AA Change: M944L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0694

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (95/95)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	C	T	16: 21,513,146 (GRCm39)	A4T	probably benign	Het
Aacs	T	C	5: 125,583,316 (GRCm39)	S291P	probably damaging	Het
Abcb1a	T	C	5: 8,752,280 (GRCm39)		probably null	Het
Apol10a	C	T	15: 77,372,841 (GRCm39)	T159I	possibly damaging	Het
Atg16l2	A	G	7: 100,946,385 (GRCm39)	L129P	probably damaging	Het
Baiap2l2	T	A	15: 79,143,951 (GRCm39)	Y381F	probably benign	Het
Chd6	A	T	2: 160,812,103 (GRCm39)	D1363E	probably benign	Het
Ciao3	A	T	17: 26,000,283 (GRCm39)	H322L	probably damaging	Het
Cir1	T	C	2: 73,142,867 (GRCm39)		probably benign	Het
Clec4a2	T	C	6: 123,117,622 (GRCm39)	I180T	probably damaging	Het
Clec4d	T	A	6: 123,245,072 (GRCm39)	H117Q	probably damaging	Het
Cntnap2	A	T	6: 45,037,251 (GRCm39)	R10W	possibly damaging	Het
Coro6	A	G	11: 77,360,025 (GRCm39)	E362G	possibly damaging	Het
Ctr9	T	A	7: 110,634,578 (GRCm39)	C196S	probably benign	Het
Cyp2c55	A	G	19: 39,007,173 (GRCm39)	K190E	probably benign	Het
Dbt	T	C	3: 116,332,781 (GRCm39)	I200T	probably damaging	Het
Dnah11	A	G	12: 118,084,279 (GRCm39)	F1242L	probably benign	Het
Dnah2	A	G	11: 69,348,868 (GRCm39)	W2534R	probably damaging	Het
Dph7	T	C	2: 24,853,143 (GRCm39)	S86P	possibly damaging	Het
Dpp9	A	C	17: 56,505,970 (GRCm39)		probably null	Het
Eif4g3	T	A	4: 137,925,408 (GRCm39)	S1584T	probably benign	Het
Eml4	T	G	17: 83,717,459 (GRCm39)	D10E	probably damaging	Het
Enpp1	A	T	10: 24,555,146 (GRCm39)	C67S	probably null	Het
Epn1	A	G	7: 5,093,012 (GRCm39)	D108G	probably damaging	Het
Eps15	A	G	4: 109,200,387 (GRCm39)	Y2C	probably damaging	Het
Fam135b	C	T	15: 71,335,920 (GRCm39)	V425I	probably benign	Het
Frem2	G	A	3: 53,443,240 (GRCm39)	A2508V	probably benign	Het
Fzd3	T	A	14: 65,473,193 (GRCm39)	M192L	possibly damaging	Het
Gls	C	T	1: 52,271,947 (GRCm39)	A69T	probably damaging	Het
Gm10051	T	A	5: 133,504,113 (GRCm39)		noncoding transcript	Het
Gm9271	A	G	7: 39,013,346 (GRCm39)		noncoding transcript	Het
Gramd1b	T	C	9: 40,227,128 (GRCm39)		probably null	Het
Gvin-ps6	G	A	7: 106,022,782 (GRCm39)		noncoding transcript	Het
H2-T23	A	T	17: 36,343,016 (GRCm39)		probably benign	Het
H2-T5	T	A	17: 36,478,448 (GRCm39)	I195F	probably damaging	Het
Hmbox1	G	A	14: 65,134,483 (GRCm39)	T39I	probably damaging	Het
Hmx1	A	G	5: 35,549,115 (GRCm39)	E136G	probably damaging	Het
Hpdl	T	C	4: 116,678,221 (GRCm39)	N80S	probably damaging	Het
Hydin	A	G	8: 111,173,071 (GRCm39)	N918S	probably benign	Het
Igkv5-37	T	A	6: 69,940,306 (GRCm39)	S113C	probably damaging	Het
Il36rn	T	C	2: 24,167,503 (GRCm39)		probably benign	Het
Mab21l4	A	C	1: 93,083,890 (GRCm39)	M189R	probably benign	Het
Marco	G	T	1: 120,422,499 (GRCm39)	T61K	probably damaging	Het
Med1	T	A	11: 98,071,090 (GRCm39)	R86*	probably null	Het
Mertk	A	G	2: 128,593,914 (GRCm39)	Y306C	probably damaging	Het
Mgat4c	T	C	10: 102,224,265 (GRCm39)	F160L	probably damaging	Het
Midn	A	T	10: 79,987,238 (GRCm39)	E88V	probably null	Het
Muc4	G	A	16: 32,596,277 (GRCm39)	R3163H	possibly damaging	Het
Naip1	T	C	13: 100,581,034 (GRCm39)	D71G	possibly damaging	Het
Nhlrc4	T	C	17: 26,162,577 (GRCm39)	T57A	probably benign	Het
Nlrp1a	T	C	11: 71,004,466 (GRCm39)		probably null	Het
Npffr2	A	T	5: 89,730,879 (GRCm39)	K270*	probably null	Het
Or10a3	T	G	7: 108,480,689 (GRCm39)	E41D	probably benign	Het
Or2b6	T	A	13: 21,823,340 (GRCm39)	M118L	possibly damaging	Het
Or51e1	T	A	7: 102,359,378 (GRCm39)	I304N	probably damaging	Het
Or8g26	T	A	9: 39,095,664 (GRCm39)	Y60*	probably null	Het
Or8k40	C	T	2: 86,584,155 (GRCm39)	C309Y	probably benign	Het
Otub2	T	A	12: 103,359,103 (GRCm39)	L64Q	probably benign	Het
Pabpc4l	C	G	3: 46,400,570 (GRCm39)	G358A	possibly damaging	Het
Pabpc4l	C	T	3: 46,400,579 (GRCm39)	R355H	probably benign	Het
Parp1	T	C	1: 180,417,033 (GRCm39)	S606P	probably damaging	Het
Pkhd1	A	G	1: 20,594,354 (GRCm39)	V1253A	probably benign	Het
Psg29	G	A	7: 16,942,458 (GRCm39)	R153H	probably benign	Het
Rbm25	A	G	12: 83,691,181 (GRCm39)	M58V	possibly damaging	Het
Rbm28	T	C	6: 29,125,353 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,671,933 (GRCm39)	S3436P	possibly damaging	Het
Slc3a1	A	G	17: 85,354,181 (GRCm39)	I335V	probably benign	Het
Slc4a4	T	C	5: 89,373,753 (GRCm39)	F953S	probably damaging	Het
Spata20	A	G	11: 94,375,404 (GRCm39)	I130T	possibly damaging	Het
Spata31h1	T	C	10: 82,119,481 (GRCm39)	T4510A	possibly damaging	Het
Srcap	T	C	7: 127,148,471 (GRCm39)	S1879P	probably damaging	Het
St18	G	C	1: 6,887,828 (GRCm39)	V466L	probably benign	Het
Stard3nl	A	T	13: 19,551,948 (GRCm39)	M166K	probably benign	Het
Stard3nl	G	A	13: 19,560,736 (GRCm39)	T13M	probably damaging	Het
Stil	A	G	4: 114,863,979 (GRCm39)	T74A	probably benign	Het
Syt6	T	G	3: 103,532,972 (GRCm39)	M367R	probably damaging	Het
Tacc1	T	C	8: 25,672,581 (GRCm39)	T125A	possibly damaging	Het
Tbc1d8	G	A	1: 39,441,959 (GRCm39)	T211I	possibly damaging	Het
Tcaf1	A	G	6: 42,663,809 (GRCm39)	S24P	probably benign	Het
Trim75	T	G	8: 65,435,199 (GRCm39)	Y417S	probably damaging	Het
Ttll12	T	C	15: 83,464,321 (GRCm39)	Y503C	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Unc5c	A	T	3: 141,522,692 (GRCm39)	Y706F	probably benign	Het
Zfp593	T	C	4: 133,972,077 (GRCm39)		probably benign	Het
Zfp956	T	C	6: 47,939,476 (GRCm39)	S175P	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
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'- TGTACAACTGGTGGCAGTTACTG -3'
(R):5'- CCTGTATCTGGAACGGTCAC -3'

Sequencing Primer
(F):5'- GCAGTTACTGACAGTCAAGCTG -3'
(R):5'- CTAGGTGTTGGAAGCAACTGTACATC -3'

Posted On

2015-11-11