Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00679:Arhgap5'

12468

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgap5

Ensembl Gene

ENSMUSG00000035133

Gene Name

Rho GTPase activating protein 5

Synonyms

p190B, p190-B

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00679

Quality Score

Status

Chromosome

Chromosomal Location

52550755-52618758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 52564064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 345 (A345D)

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 damaging
Transcript: ENSMUST00000110725
AA Change: A345D

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106353
Gene: ENSMUSG00000035133
AA Change: A345D

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 damaging
Transcript: ENSMUST00000219443
AA Change: A345D

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc73	C	T	2: 104,824,936 (GRCm39)	P990S	probably damaging	Het
Cep112	A	G	11: 108,481,879 (GRCm39)	K692R	probably damaging	Het
Cep57l1	A	T	10: 41,595,796 (GRCm39)	C319*	probably null	Het
Cfap276	A	G	3: 108,444,951 (GRCm39)	E6G	possibly damaging	Het
Cntnap5c	A	G	17: 58,362,673 (GRCm39)	D342G	probably damaging	Het
Exoc1	A	T	5: 76,714,870 (GRCm39)	H742L	possibly damaging	Het
Faah	A	T	4: 115,865,480 (GRCm39)	L69Q	possibly damaging	Het
Fbxw21	G	A	9: 108,991,032 (GRCm39)	P9L	probably damaging	Het
Irak4	T	A	15: 94,454,509 (GRCm39)	M218K	probably benign	Het
Kdm2a	A	T	19: 4,376,869 (GRCm39)	C235S	probably damaging	Het
Rab4a	A	G	8: 124,554,153 (GRCm39)	D29G	probably damaging	Het
Slc22a8	A	G	19: 8,582,219 (GRCm39)	I133M	possibly damaging	Het
Wipi2	A	G	5: 142,644,904 (GRCm39)	D170G	probably damaging	Het

Other mutations in Arhgap5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06