Mutagenetix > Incidental Mutation

Incidental Mutation 'R7009:Arhgap5'

544921

Institutional Source

Beutler Lab

Gene Symbol

Arhgap5

Ensembl Gene

ENSMUSG00000035133

Gene Name

Rho GTPase activating protein 5

Synonyms

p190B, p190-B

MMRRC Submission

045111-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7009 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52550755-52618758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52566422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1131 (Q1131L)

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: Q1131L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000106353
Gene: ENSMUSG00000035133
AA Change: Q1131L

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

probably benign
Transcript: ENSMUST00000219443
AA Change: Q1131L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (82/83)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	G	T	13: 59,838,624 (GRCm39)	D69E	possibly damaging	Het
Abat	A	C	16: 8,420,231 (GRCm39)	M177L	probably benign	Het
Acadvl	A	G	11: 69,905,617 (GRCm39)		probably null	Het
Adam5	T	C	8: 25,296,454 (GRCm39)	N331S	probably benign	Het
Ager	A	G	17: 34,819,710 (GRCm39)	E372G	probably damaging	Het
Angpt1	T	A	15: 42,386,991 (GRCm39)	Q121L	possibly damaging	Het
Apoa4	A	T	9: 46,154,178 (GRCm39)	I260F	possibly damaging	Het
Arhgap32	A	T	9: 32,157,272 (GRCm39)	I90F	probably damaging	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Cacna2d3	A	T	14: 28,691,322 (GRCm39)	M1K	probably null	Het
Ccdc18	G	A	5: 108,321,728 (GRCm39)		probably null	Het
Ccdc42	T	C	11: 68,485,442 (GRCm39)	F267S	probably damaging	Het
Cdh23	T	A	10: 60,173,085 (GRCm39)	Y1700F	probably damaging	Het
Cenpe	A	T	3: 134,940,962 (GRCm39)	S704C	probably damaging	Het
Cenpe	G	A	3: 134,940,963 (GRCm39)	S704N	probably benign	Het
Cfap299	A	T	5: 98,932,379 (GRCm39)	D193V	probably damaging	Het
Cfap54	A	T	10: 92,710,881 (GRCm39)	S2727T	unknown	Het
Clu	T	A	14: 66,209,281 (GRCm39)	V113D	probably damaging	Het
Cnbd2	A	G	2: 156,161,954 (GRCm39)	I98V	probably benign	Het
Copa	G	T	1: 171,918,567 (GRCm39)	R97L	probably damaging	Het
Epb41l1	C	A	2: 156,376,603 (GRCm39)		probably null	Het
Etnk1	T	A	6: 143,148,880 (GRCm39)		probably null	Het
Fnip1	A	T	11: 54,393,761 (GRCm39)	K732N	probably damaging	Het
G6pd2	A	G	5: 61,966,234 (GRCm39)	E3G	probably benign	Het
Gal3st2	A	G	1: 93,801,481 (GRCm39)	T95A	probably benign	Het
Gapvd1	A	G	2: 34,590,829 (GRCm39)	S948P	probably damaging	Het
Ggps1	A	T	13: 14,228,750 (GRCm39)	Y8*	probably null	Het
Gria2	T	C	3: 80,614,279 (GRCm39)	E587G	probably damaging	Het
Hpse	T	C	5: 100,840,145 (GRCm39)	E324G	probably benign	Het
Il16	G	A	7: 83,295,596 (GRCm39)	T493I	probably benign	Het
Ints1	T	C	5: 139,754,217 (GRCm39)	T652A	possibly damaging	Het
Ism1	A	G	2: 139,599,199 (GRCm39)	I391V	probably damaging	Het
Katnb1	A	G	8: 95,825,012 (GRCm39)	D598G	probably damaging	Het
Kif5c	A	G	2: 49,647,441 (GRCm39)	S880G	probably benign	Het
Klra8	T	C	6: 130,102,147 (GRCm39)	N96S	probably benign	Het
Krt79	T	A	15: 101,839,876 (GRCm39)	D373V	probably damaging	Het
Lamtor4	G	A	5: 138,257,374 (GRCm39)	R92Q	probably benign	Het
Lce1d	C	A	3: 92,593,353 (GRCm39)	C20F	unknown	Het
Limk1	T	C	5: 134,701,553 (GRCm39)	T117A	probably benign	Het
Medag	A	T	5: 149,350,708 (GRCm39)	K61M	probably benign	Het
Mkrn3	T	C	7: 62,069,366 (GRCm39)	M142V	probably benign	Het
Mob3c	G	A	4: 115,688,779 (GRCm39)	R104H	probably benign	Het
Morc1	G	T	16: 48,447,433 (GRCm39)	R903L	possibly damaging	Het
Myh6	T	C	14: 55,189,749 (GRCm39)	E1099G	probably damaging	Het
Nphp3	T	G	9: 103,893,315 (GRCm39)	C434G	probably null	Het
Npr3	C	T	15: 11,905,334 (GRCm39)	C131Y	probably damaging	Het
Oacyl	C	A	18: 65,855,609 (GRCm39)	Y112*	probably null	Het
Oprl1	A	G	2: 181,360,174 (GRCm39)	T77A	probably damaging	Het
Osgep	A	G	14: 51,162,165 (GRCm39)	V24A	probably damaging	Het
Otx2	T	A	14: 48,896,254 (GRCm39)	K260M	probably damaging	Het
Pdcd11	T	C	19: 47,101,581 (GRCm39)	L922P	probably benign	Het
Pgap4	A	T	4: 49,586,325 (GRCm39)	M281K	probably benign	Het
Phldb1	A	G	9: 44,605,705 (GRCm39)	V375A	probably damaging	Het
Pip5k1b	C	T	19: 24,337,299 (GRCm39)		probably null	Het
Psmd3	G	A	11: 98,573,592 (GRCm39)	D13N	probably benign	Het
Ptprc	G	A	1: 137,992,291 (GRCm39)	H1140Y	probably damaging	Het
Ranbp3l	A	T	15: 9,063,064 (GRCm39)	H291L	probably damaging	Het
Rasa4	T	A	5: 136,130,217 (GRCm39)	D324E	probably damaging	Het
Rilpl1	T	A	5: 124,641,755 (GRCm39)		silent	Het
Rin2	A	C	2: 145,725,395 (GRCm39)	D794A	probably damaging	Het
Ripk1	A	G	13: 34,214,045 (GRCm39)	I522M	probably damaging	Het
Rnf31	T	C	14: 55,830,008 (GRCm39)	Y143H	probably benign	Het
Rp1	T	G	1: 4,112,291 (GRCm39)	I1187L	unknown	Het
Rps6ka5	G	A	12: 100,585,796 (GRCm39)	H166Y	probably damaging	Het
Rrm1	T	C	7: 102,109,541 (GRCm39)	V455A	probably damaging	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn5a	T	G	9: 119,314,996 (GRCm39)	E1904A	probably damaging	Het
Sec16a	G	T	2: 26,326,014 (GRCm39)	S240*	probably null	Het
Slc22a8	C	T	19: 8,582,781 (GRCm39)	T154I	probably benign	Het
Slc25a16	T	A	10: 62,773,233 (GRCm39)	V156E	possibly damaging	Het
Slc28a3	A	T	13: 58,758,618 (GRCm39)	S2T	probably benign	Het
Srd5a3	G	A	5: 76,297,713 (GRCm39)	V48I	probably benign	Het
Srebf1	A	C	11: 60,091,352 (GRCm39)	H1025Q	probably damaging	Het
Stard9	A	G	2: 120,527,672 (GRCm39)	K1310E	probably benign	Het
Swt1	A	G	1: 151,246,381 (GRCm39)	V848A	possibly damaging	Het
Tanc2	A	T	11: 105,731,525 (GRCm39)	T434S	possibly damaging	Het
Tcf20	G	A	15: 82,738,883 (GRCm39)	T856I	probably benign	Het
Tcf7l2	T	C	19: 55,883,165 (GRCm39)		probably null	Het
Trim45	A	G	3: 100,839,195 (GRCm39)		probably benign	Het
Tsen2	T	A	6: 115,524,933 (GRCm39)	M44K	possibly damaging	Het
Ttc21a	T	A	9: 119,787,139 (GRCm39)	C715*	probably null	Het
Vmn2r102	G	A	17: 19,914,456 (GRCm39)	V674I	probably damaging	Het
Zfp87	A	G	13: 67,665,173 (GRCm39)	S430P	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
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
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'- AAGAAAACAGACTTCCCGGG -3'
(R):5'- GAGACAGTAGTGGATCTTCTTCAC -3'

Sequencing Primer
(F):5'- AGACTTCCCGGGTGCCTTTG -3'
(R):5'- AGTAGTGGATCTTCTTCACTTCCACG -3'

Posted On

2019-05-13