Incidental Mutation 'R7310:Arhgap5'
ID 567529
Institutional Source Beutler Lab
Gene Symbol Arhgap5
Ensembl Gene ENSMUSG00000035133
Gene Name Rho GTPase activating protein 5
Synonyms p190B, p190-B
MMRRC Submission 045409-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7310 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 52550755-52618758 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 52589270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110725] [ENSMUST00000110725] [ENSMUST00000110725] [ENSMUST00000217820] [ENSMUST00000219443] [ENSMUST00000219443] [ENSMUST00000219443]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000110725
SMART Domains Protein: ENSMUSP00000106353
Gene: ENSMUSG00000035133

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 probably null
Transcript: ENSMUST00000110725
SMART Domains Protein: ENSMUSP00000106353
Gene: ENSMUSG00000035133

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 probably null
Transcript: ENSMUST00000110725
SMART Domains Protein: ENSMUSP00000106353
Gene: ENSMUSG00000035133

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 probably benign
Transcript: ENSMUST00000217820
Predicted Effect probably null
Transcript: ENSMUST00000219443
Predicted Effect probably null
Transcript: ENSMUST00000219443
Predicted Effect probably null
Transcript: ENSMUST00000219443
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik A T 11: 58,771,094 (GRCm39) Q192L possibly damaging Het
Abat G A 16: 8,423,457 (GRCm39) R250Q probably null Het
Abcg3 A C 5: 105,114,632 (GRCm39) F295C probably benign Het
Abl1 T C 2: 31,690,604 (GRCm39) S708P possibly damaging Het
Acap2 A T 16: 30,926,972 (GRCm39) Y489* probably null Het
Akr1c6 A T 13: 4,486,354 (GRCm39) M54L probably benign Het
Asap1 A G 15: 63,971,379 (GRCm39) probably null Het
Atrnl1 A T 19: 57,630,856 (GRCm39) N208Y possibly damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 GTTCTGTGGTCACTG GTTCTGTGGTCACTGATTCTGTGGTCACTG 3: 95,795,485 (GRCm39) probably benign Het
BC028528 G GGGGTCACTGGTTCTT 3: 95,795,460 (GRCm39) probably benign Het
BC028528 ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC ACTGGTTCTGTGGTCCCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC 3: 95,795,451 (GRCm39) probably benign Het
Bmi1 T C 2: 18,689,230 (GRCm39) S305P probably benign Het
Bpifc T A 10: 85,798,891 (GRCm39) I431F probably damaging Het
C130050O18Rik A T 5: 139,400,993 (GRCm39) M349L probably benign Het
Cacna2d1 A T 5: 16,519,914 (GRCm39) D428V probably damaging Het
Card14 A C 11: 119,217,005 (GRCm39) Q363P probably null Het
Cdca2 A T 14: 67,950,673 (GRCm39) L86H probably damaging Het
Cdh22 G T 2: 164,954,214 (GRCm39) S769* probably null Het
Cdhr17 A G 5: 17,075,246 (GRCm39) Y872C possibly damaging Het
Cep164 T C 9: 45,686,664 (GRCm39) E690G probably damaging Het
Cluh A G 11: 74,560,285 (GRCm39) H1304R probably benign Het
Daxx C A 17: 34,129,435 (GRCm39) D5E possibly damaging Het
Dnah7c A G 1: 46,636,127 (GRCm39) M1117V possibly damaging Het
Entpd3 T A 9: 120,389,821 (GRCm39) probably null Het
Esr1 G A 10: 4,889,259 (GRCm39) A386T probably damaging Het
Etv5 G A 16: 22,220,487 (GRCm39) P300L probably benign Het
Exoc3l A T 8: 106,020,340 (GRCm39) L195Q probably damaging Het
Exog T C 9: 119,274,069 (GRCm39) L18P unknown Het
Fgfr1 T A 8: 26,052,331 (GRCm39) V219D probably benign Het
Gna14 A T 19: 16,511,113 (GRCm39) Q54L Het
Gnb5 T C 9: 75,221,570 (GRCm39) L48P probably benign Het
Gpbp1 A G 13: 111,589,924 (GRCm39) I57T probably benign Het
Hnrnpa1 T A 15: 103,149,884 (GRCm39) D48E probably damaging Het
Hrc T A 7: 44,985,227 (GRCm39) L126* probably null Het
Hspa8 T G 9: 40,714,704 (GRCm39) D333E probably benign Het
Igsf3 T A 3: 101,338,895 (GRCm39) V403D probably benign Het
Itga10 C A 3: 96,555,475 (GRCm39) A143D probably damaging Het
Kdr T A 5: 76,104,985 (GRCm39) I1082F probably damaging Het
Klk1b11 A T 7: 43,428,254 (GRCm39) I242F probably damaging Het
Kng2 G A 16: 22,806,522 (GRCm39) T559I probably benign Het
Map1b G A 13: 99,570,163 (GRCm39) P853S unknown Het
Mmp13 T C 9: 7,280,880 (GRCm39) I421T possibly damaging Het
Mpeg1 A T 19: 12,439,615 (GRCm39) T358S probably damaging Het
Msantd5l A C 11: 51,145,474 (GRCm39) W38G probably damaging Het
Mttp T C 3: 137,800,783 (GRCm39) D759G probably damaging Het
Mup17 T A 4: 61,511,929 (GRCm39) Y115F possibly damaging Het
Myo1a G T 10: 127,541,697 (GRCm39) A79S probably damaging Het
Myo9a T A 9: 59,778,436 (GRCm39) N1397K probably benign Het
Nadk2 T C 15: 9,103,469 (GRCm39) probably null Het
Ncf1 A T 5: 134,250,615 (GRCm39) S402T probably benign Het
Ndufb10 T C 17: 24,941,188 (GRCm39) D145G probably damaging Het
Nlgn2 G A 11: 69,721,409 (GRCm39) T163M possibly damaging Het
Nol4 A T 18: 22,903,801 (GRCm39) H172Q Het
Nup205 T A 6: 35,202,904 (GRCm39) D1370E possibly damaging Het
Or1e32 A C 11: 73,705,112 (GRCm39) N265K probably damaging Het
Or51ab3 T A 7: 103,201,892 (GRCm39) I300N probably damaging Het
Or5b97 A G 19: 12,878,637 (GRCm39) F169S probably damaging Het
Pkd1l2 A G 8: 117,750,773 (GRCm39) V1746A probably benign Het
Plin2 T A 4: 86,586,628 (GRCm39) I68F probably benign Het
Proc A T 18: 32,268,952 (GRCm39) M11K probably benign Het
Rif1 T C 2: 51,995,631 (GRCm39) V950A probably benign Het
Rmc1 A G 18: 12,317,972 (GRCm39) K362E probably benign Het
Rnf208 C A 2: 25,133,587 (GRCm39) P94T probably damaging Het
Rundc3b A T 5: 8,571,011 (GRCm39) Y269* probably null Het
Senp7 T C 16: 56,006,445 (GRCm39) V950A probably benign Het
Sipa1l1 T C 12: 82,419,269 (GRCm39) V649A probably damaging Het
Sipa1l3 G T 7: 29,099,121 (GRCm39) H383N probably benign Het
Slc12a5 G A 2: 164,834,360 (GRCm39) V794M probably damaging Het
Slc7a7 A G 14: 54,616,482 (GRCm39) I200T probably damaging Het
Spdye4b A C 5: 143,188,103 (GRCm39) I199L probably damaging Het
Styxl2 G A 1: 165,926,300 (GRCm39) T1104I possibly damaging Het
Tle4 A T 19: 14,495,155 (GRCm39) H191Q probably benign Het
Tnfsf13b C A 8: 10,081,651 (GRCm39) S271* probably null Het
Tnks2 G A 19: 36,856,839 (GRCm39) V855I probably benign Het
Trank1 T C 9: 111,196,194 (GRCm39) L1406S probably damaging Het
Trhde T C 10: 114,636,478 (GRCm39) E243G probably damaging Het
Trim25 A T 11: 88,906,608 (GRCm39) N448I probably benign Het
Trim31 T A 17: 37,218,194 (GRCm39) M308K probably benign Het
Ugt2b36 A T 5: 87,214,138 (GRCm39) V502E possibly damaging Het
Usp10 A C 8: 120,668,344 (GRCm39) D215A possibly damaging Het
Usp33 T G 3: 152,066,026 (GRCm39) L102* probably null Het
Wdr12 A T 1: 60,121,734 (GRCm39) C272* probably null Het
Xndc1 A C 7: 101,727,938 (GRCm39) probably null Het
Zkscan2 T C 7: 123,089,276 (GRCm39) I332V possibly damaging Het
Zswim5 A T 4: 116,841,885 (GRCm39) T822S 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
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
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'- GAGACCATTTTCTTATAGTCAGCTTCC -3'
(R):5'- GCTACCTGCAGAGTGACTAAG -3'

Sequencing Primer
(F):5'- ATAGTCAGCTTCCCCCTCTG -3'
(R):5'- CTACCTGCAGAGTGACTAAGATGAC -3'
Posted On 2019-06-26