Mutagenetix > Incidental Mutation

Incidental Mutation 'R8079:Arhgap5'

629230

Institutional Source

Beutler Lab

Gene Symbol

Arhgap5

Ensembl Gene

ENSMUSG00000035133

Gene Name

Rho GTPase activating protein 5

Synonyms

p190B, p190-B

Accession Numbers

Genbank: NM_009706; MGI: 1332637

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8079 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52503972-52571975 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52567205 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1460 (N1460S)

Ref Sequence

ENSEMBL: ENSMUSP00000106353 (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: N1460S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106353
Gene: ENSMUSG00000035133
AA Change: N1460S

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
AA Change: N198S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000219443
AA Change: N1460S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.0%
20x: 96.5%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	A	G	5: 124,083,123 (GRCm38)	I255T	possibly damaging	Het
Ablim1	A	T	19: 57,182,224 (GRCm38)		probably null	Het
Akap10	G	A	11: 61,930,054 (GRCm38)	P8L	possibly damaging	Het
Ankle2	C	T	5: 110,231,316 (GRCm38)	A27V	probably damaging	Het
Anxa8	A	G	14: 34,094,812 (GRCm38)	T246A	probably benign	Het
Arid5b	T	G	10: 68,098,356 (GRCm38)	D572A	possibly damaging	Het
Atrn	T	A	2: 131,013,641 (GRCm38)	L1278Q	probably null	Het
AU040320	G	T	4: 126,832,160 (GRCm38)	K454N	possibly damaging	Het
Baz2b	T	A	2: 59,900,768 (GRCm38)	R2085W	probably damaging	Het
Bbx	A	T	16: 50,210,458 (GRCm38)	N649K	probably damaging	Het
BC034090	G	A	1: 155,225,286 (GRCm38)	P411S	probably damaging	Het
Calcoco2	A	T	11: 96,107,537 (GRCm38)	F20Y	probably damaging	Het
Carmil2	A	G	8: 105,686,761 (GRCm38)	R50G	probably damaging	Het
Catspere2	A	G	1: 178,046,959 (GRCm38)	T131A	probably benign	Het
Cdcp1	C	A	9: 123,173,790 (GRCm38)	V739L	probably damaging	Het
Chit1	A	G	1: 134,144,027 (GRCm38)	T92A	possibly damaging	Het
Clstn3	A	G	6: 124,459,804 (GRCm38)	I185T	probably damaging	Het
Dctpp1	C	A	7: 127,259,389 (GRCm38)	V61L	probably damaging	Het
Dip2a	T	C	10: 76,287,321 (GRCm38)	T760A	probably benign	Het
Dock10	C	T	1: 80,578,704 (GRCm38)	V552I	probably benign	Het
Dpcr1	T	C	17: 35,638,192 (GRCm38)	T172A	unknown	Het
Dpp8	A	G	9: 65,043,735 (GRCm38)	E151G	probably damaging	Het
Dvl2	G	C	11: 70,007,518 (GRCm38)	R367P	possibly damaging	Het
Fem1b	A	T	9: 62,796,361 (GRCm38)	I539N	probably damaging	Het
Frat2	A	T	19: 41,847,838 (GRCm38)	L25H	probably damaging	Het
Garnl3	A	T	2: 33,018,499 (GRCm38)		probably null	Het
Gh	T	C	11: 106,301,427 (GRCm38)	H47R	possibly damaging	Het
Glmp	T	C	3: 88,325,738 (GRCm38)	V61A	probably damaging	Het
Gm6614	T	G	6: 141,987,734 (GRCm38)	M462L	probably benign	Het
Gm9925	T	C	18: 74,065,487 (GRCm38)	V129A	unknown	Het
H2-M9	T	A	17: 36,642,133 (GRCm38)	E94V	probably benign	Het
Hira	A	T	16: 18,925,757 (GRCm38)	Q408L	probably benign	Het
Hook3	A	G	8: 26,088,058 (GRCm38)		probably null	Het
Ifi206	G	A	1: 173,481,158 (GRCm38)	P424L		Het
Impdh2	T	C	9: 108,563,325 (GRCm38)	V270A	probably benign	Het
Klhl14	A	G	18: 21,651,965 (GRCm38)	I135T	probably benign	Het
Klra10	C	A	6: 130,275,775 (GRCm38)	V179L	probably benign	Het
Kmt2c	T	C	5: 25,302,732 (GRCm38)	S3236G	probably damaging	Het
Krt76	G	T	15: 101,888,390 (GRCm38)	A358D	possibly damaging	Het
Lacc1	C	A	14: 77,029,552 (GRCm38)	G424C	probably damaging	Het
Limch1	A	G	5: 67,046,753 (GRCm38)	I878V	possibly damaging	Het
Lipi	C	T	16: 75,565,530 (GRCm38)		probably null	Het
Lrrc17	C	T	5: 21,561,071 (GRCm38)	R184W	probably damaging	Het
Mllt10	A	G	2: 18,123,756 (GRCm38)	N183D	probably damaging	Het
Mterf2	C	T	10: 85,120,163 (GRCm38)	G199D	probably damaging	Het
Nat8f4	A	T	6: 85,900,994 (GRCm38)	S182R	probably benign	Het
Ndrg3	C	A	2: 156,937,532 (GRCm38)	E238*	probably null	Het
Nop14	A	T	5: 34,654,461 (GRCm38)	L194H	probably damaging	Het
Obscn	T	C	11: 59,081,905 (GRCm38)	E2105G	possibly damaging	Het
Olfr1009	A	T	2: 85,722,043 (GRCm38)	T213S	probably benign	Het
Olfr1079	T	A	2: 86,538,381 (GRCm38)	H176L	possibly damaging	Het
Olfr1457	A	C	19: 13,095,284 (GRCm38)	Y121*	probably null	Het
Olfr829	A	T	9: 18,857,429 (GRCm38)	Y259F	possibly damaging	Het
Pbx3	C	T	2: 34,178,228 (GRCm38)	A320T	probably benign	Het
Pcdhac2	A	T	18: 37,146,144 (GRCm38)	S726C	probably damaging	Het
Pcdhgb2	A	G	18: 37,690,763 (GRCm38)	D269G	probably damaging	Het
Pcgf6	A	T	19: 47,045,832 (GRCm38)	S257T	probably damaging	Het
Pclo	A	T	5: 14,540,458 (GRCm38)	H924L	unknown	Het
Per3	T	A	4: 151,042,678 (GRCm38)	T129S	possibly damaging	Het
Pi4ka	A	T	16: 17,303,060 (GRCm38)	M1270K		Het
Plec	G	A	15: 76,179,550 (GRCm38)	Q2277*	probably null	Het
Pnma1	T	A	12: 84,147,335 (GRCm38)	K198M	probably damaging	Het
Prc1	T	A	7: 80,304,767 (GRCm38)	F196L	possibly damaging	Het
Prkcz	T	C	4: 155,357,505 (GRCm38)	T57A	probably damaging	Het
Repin1	G	T	6: 48,597,345 (GRCm38)	E403*	probably null	Het
Robo4	A	G	9: 37,402,635 (GRCm38)	M61V	possibly damaging	Het
Rps12	C	T	10: 23,785,677 (GRCm38)	V79I	probably benign	Het
Rsph3a	A	G	17: 7,979,188 (GRCm38)	K466E	probably benign	Het
Scly	A	T	1: 91,308,367 (GRCm38)	I168F	probably damaging	Het
Setd1a	T	A	7: 127,785,053 (GRCm38)	F359I	unknown	Het
Sh3tc1	A	G	5: 35,706,857 (GRCm38)	L662P	possibly damaging	Het
Slc12a5	T	C	2: 164,992,452 (GRCm38)	W798R	probably damaging	Het
Slc16a6	C	T	11: 109,473,455 (GRCm38)	R13Q	unknown	Het
Smarcad1	A	G	6: 65,052,782 (GRCm38)	D118G	possibly damaging	Het
Sos2	T	C	12: 69,607,215 (GRCm38)	T788A	probably damaging	Het
Syvn1	A	G	19: 6,048,366 (GRCm38)	E75G	probably null	Het
Thpo	T	C	16: 20,726,394 (GRCm38)	E103G	probably benign	Het
Trav7d-3	A	T	14: 52,744,736 (GRCm38)	E78V	possibly damaging	Het
Uap1	A	G	1: 170,158,763 (GRCm38)	S217P	probably damaging	Het
Unc45a	T	G	7: 80,331,562 (GRCm38)	R497S	probably damaging	Het
Upf1	A	G	8: 70,338,884 (GRCm38)		probably null	Het
Usp47	A	T	7: 112,046,970 (GRCm38)	K28M	probably damaging	Het
Wdr72	A	C	9: 74,218,772 (GRCm38)	T1062P	probably damaging	Het
Wnt7b	A	T	15: 85,537,445 (GRCm38)	C339S	probably damaging	Het
Zfp954	G	T	7: 7,115,471 (GRCm38)	T358K	probably benign	Het
Zmynd15	G	T	11: 70,459,452 (GRCm38)		probably benign	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
R0718:Arhgap5	UTSW	12	52,516,507 (GRCm38)	missense	possibly damaging	0.82
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
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'- GCATGAATGGAAAACTAGCTTTGAG -3'
(R):5'- AACCCCTGAAACATGCATGTCTAG -3'

Sequencing Primer
(F):5'- CCCGTTTTATAATTTCAGGGTTAGTC -3'
(R):5'- CCCTGAAACATGCATGTCTAGATTTG -3'

Posted On

2020-06-30