Incidental Mutation 'R5683:Arhgap5'
ID 443196
Institutional Source Beutler Lab
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 # R5683 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 52550755-52618758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52566369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1113 (D1113E)
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: D1113E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106353
Gene: ENSMUSG00000035133
AA Change: D1113E

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 noncoding transcript
Transcript: ENSMUST00000218755
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218869
Predicted Effect probably benign
Transcript: ENSMUST00000219443
AA Change: D1113E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.0%
  • 20x: 94.0%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A C 11: 72,093,266 (GRCm39) M22R probably benign Het
Acad11 A G 9: 103,961,482 (GRCm39) E397G probably damaging Het
Actrt3 A T 3: 30,652,427 (GRCm39) D222E probably benign Het
Akap11 A T 14: 78,750,018 (GRCm39) S790T probably damaging Het
Arl2 C A 19: 6,184,794 (GRCm39) R153L probably benign Het
B3glct T A 5: 149,619,902 (GRCm39) M19K probably benign Het
Ccdc138 C A 10: 58,376,641 (GRCm39) Q425K probably damaging Het
Ccdc178 T A 18: 22,263,179 (GRCm39) K143N probably benign Het
Cd200r4 T A 16: 44,653,311 (GRCm39) I73K probably benign Het
Chaf1b A G 16: 93,684,030 (GRCm39) K94E possibly damaging Het
Cmtm2a T C 8: 105,019,676 (GRCm39) probably null Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Fnbp4 C A 2: 90,583,206 (GRCm39) N277K probably damaging Het
Htr7 C A 19: 35,947,271 (GRCm39) A248S probably damaging Het
Itsn1 T C 16: 91,702,268 (GRCm39) Y37H probably benign Het
Kdm8 A G 7: 125,054,345 (GRCm39) Y16C possibly damaging Het
Kif1b A T 4: 149,306,718 (GRCm39) Y881N probably damaging Het
Lhcgr C T 17: 89,079,447 (GRCm39) V80I probably benign Het
Lrriq1 T A 10: 103,009,236 (GRCm39) L1082F probably damaging Het
Met A G 6: 17,571,743 (GRCm39) Y1354C probably damaging Het
Nbea A G 3: 55,536,007 (GRCm39) L2859P possibly damaging Het
Ndufaf5 T A 2: 140,044,843 (GRCm39) M279K possibly damaging Het
Nlrp4e T C 7: 23,052,697 (GRCm39) I872T probably damaging Het
Npnt A T 3: 132,612,601 (GRCm39) probably null Het
Nsd1 G A 13: 55,393,961 (GRCm39) V521I probably benign Het
Or2n1e G A 17: 38,586,437 (GRCm39) M258I possibly damaging Het
Pak6 T A 2: 118,524,393 (GRCm39) Y469N probably damaging Het
Parp4 C T 14: 56,884,886 (GRCm39) R1322* probably null Het
Pax6 T C 2: 105,516,252 (GRCm39) Y177H probably benign Het
Pcdhb4 A T 18: 37,442,042 (GRCm39) T451S probably benign Het
Pcdhgb5 A T 18: 37,864,907 (GRCm39) D234V probably damaging Het
Pramel11 A G 4: 143,622,423 (GRCm39) S311P probably damaging Het
Ralb G A 1: 119,403,686 (GRCm39) A147V possibly damaging Het
Rgs11 A G 17: 26,424,155 (GRCm39) K196E probably benign Het
Rnft1 A T 11: 86,382,616 (GRCm39) T280S probably benign Het
Slco4c1 G T 1: 96,795,559 (GRCm39) H166Q probably damaging Het
Sycp3 T C 10: 88,308,797 (GRCm39) S248P probably damaging Het
Tab2 A G 10: 7,794,876 (GRCm39) probably null Het
Tgm6 T C 2: 129,980,875 (GRCm39) M224T probably damaging Het
Topbp1 A T 9: 103,190,003 (GRCm39) E193V possibly damaging Het
Trim36 T C 18: 46,302,359 (GRCm39) Y551C probably damaging Het
Ttc17 T C 2: 94,192,866 (GRCm39) Y628C probably damaging Het
Vmn1r180 A C 7: 23,652,635 (GRCm39) D266A possibly damaging Het
Vmn2r104 T A 17: 20,260,981 (GRCm39) K481* probably null Het
Zc3hav1 A G 6: 38,284,172 (GRCm39) V981A probably damaging 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
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'- TGAACGTAACCATAAAGTGCCTC -3'
(R):5'- ATCGCTTGCATCTGAGTGTG -3'

Sequencing Primer
(F):5'- ACCAGTTGTACCTAAAACAAATGTG -3'
(R):5'- CGCTTGCATCTGAGTGTGTTCTTC -3'
Posted On 2016-11-09