Incidental Mutation 'R3808:Arhgap5'
ID 275058
Institutional Source Beutler Lab
Gene Symbol Arhgap5
Ensembl Gene ENSMUSG00000035133
Gene Name Rho GTPase activating protein 5
Synonyms p190B, p190-B
MMRRC Submission 040765-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3808 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 52550755-52618758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52613970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 192 (E192G)
Ref Sequence ENSEMBL: ENSMUSP00000151267 (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: E1454G

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000106353
Gene: ENSMUSG00000035133
AA Change: E1454G

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000217820
AA Change: E192G

PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218869
Predicted Effect probably benign
Transcript: ENSMUST00000219443
AA Change: E1454G

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aldh3a2 G T 11: 61,149,623 (GRCm39) L248M probably damaging Het
Als2 A G 1: 59,209,609 (GRCm39) S1458P probably benign Het
Aoc1l3 C T 6: 48,964,928 (GRCm39) P312L possibly damaging Het
Atg2a A G 19: 6,302,846 (GRCm39) K1019R possibly damaging Het
Atp2b1 A G 10: 98,839,010 (GRCm39) K613E possibly damaging Het
Carm1 T C 9: 21,498,258 (GRCm39) C421R probably damaging Het
Cdh17 A T 4: 11,795,671 (GRCm39) Y417F probably damaging Het
Cers1 A G 8: 70,782,660 (GRCm39) D10G possibly damaging Het
Clptm1l A C 13: 73,760,573 (GRCm39) M319L probably benign Het
Cntnap3 A G 13: 64,929,618 (GRCm39) V527A probably damaging Het
Creb3l2 A G 6: 37,332,625 (GRCm39) S290P probably damaging Het
Dock4 T G 12: 40,722,809 (GRCm39) V305G probably damaging Het
Dtl A C 1: 191,280,466 (GRCm39) L356R probably damaging Het
Eftud2 A T 11: 102,732,289 (GRCm39) probably null Het
Eif2b4 A G 5: 31,348,512 (GRCm39) S88P possibly damaging Het
Fat4 T G 3: 39,036,587 (GRCm39) V3413G possibly damaging Het
Fgfr2 T C 7: 129,801,578 (GRCm39) M218V probably benign Het
Grin2b A G 6: 135,900,269 (GRCm39) L204P probably damaging Het
Kcnj12 A G 11: 60,961,103 (GRCm39) N467S probably benign Het
Klhdc3 T A 17: 46,988,858 (GRCm39) N111Y possibly damaging Het
Lin9 A G 1: 180,486,676 (GRCm39) I81V probably null Het
Lrp2 T C 2: 69,331,892 (GRCm39) D1621G probably damaging Het
Lrp4 T A 2: 91,307,047 (GRCm39) D389E probably damaging Het
Med15 C T 16: 17,473,598 (GRCm39) probably benign Het
Nbea T C 3: 55,625,269 (GRCm39) N2274S probably benign Het
Nr3c2 G A 8: 77,635,343 (GRCm39) G148D probably damaging Het
Or10s1 A T 9: 39,985,605 (GRCm39) M5L probably benign Het
Or14j6 T C 17: 38,214,464 (GRCm39) V9A probably benign Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Paxip1 A G 5: 27,977,027 (GRCm39) probably benign Het
Pfas T C 11: 68,880,779 (GRCm39) probably benign Het
Plin3 C A 17: 56,593,275 (GRCm39) A96S probably damaging Het
Pnck T A X: 72,700,550 (GRCm39) I288F probably damaging Het
Ppp4c C T 7: 126,386,499 (GRCm39) G166D probably damaging Het
Prss43 A T 9: 110,656,840 (GRCm39) R115S probably damaging Het
Rassf2 T C 2: 131,840,180 (GRCm39) probably null Het
Rdh16f1 T A 10: 127,624,568 (GRCm39) D135E probably benign Het
Rdh16f1 G A 10: 127,624,569 (GRCm39) V136M probably damaging Het
Rgs12 A G 5: 35,189,698 (GRCm39) E702G probably damaging Het
Rnf213 A G 11: 119,370,384 (GRCm39) K4728E probably damaging Het
Ros1 T G 10: 51,996,944 (GRCm39) T1243P probably benign Het
Sall1 G A 8: 89,758,101 (GRCm39) Q668* probably null Het
Sbf2 C A 7: 110,088,487 (GRCm39) *45L probably null Het
Serpina3j A T 12: 104,286,086 (GRCm39) I414F probably benign Het
Sh2d3c T C 2: 32,636,108 (GRCm39) Y159H probably damaging Het
Slamf1 A G 1: 171,625,745 (GRCm39) D307G probably null Het
Slc22a13 T C 9: 119,025,143 (GRCm39) T178A probably benign Het
Smchd1 A T 17: 71,736,536 (GRCm39) L588H probably damaging Het
Trim12a G A 7: 103,956,201 (GRCm39) A113V probably benign Het
Vil1 T C 1: 74,466,772 (GRCm39) V654A probably benign Het
Vmn1r202 T C 13: 22,686,070 (GRCm39) T116A possibly damaging Het
Zfp267 T G 3: 36,219,792 (GRCm39) probably null Het
Zfp607a G A 7: 27,578,826 (GRCm39) R632H probably benign Het
Other mutations in Arhgap5
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- GCATGAATGGAAAACTAGCTTTGAG -3'
(R):5'- AACCCCTGAAACATGCATGTCTAG -3'

Sequencing Primer
(F):5'- CCCGTTTTATAATTTCAGGGTTAGTC -3'
(R):5'- AATTTCAGGCCATCTGCAATC -3'
Posted On 2015-04-02