Incidental Mutation 'IGL02417:Arhgap5'
ID 292500
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02417
Quality Score
Status
Chromosome 12
Chromosomal Location 52550755-52618758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52565136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 702 (N702K)
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 damaging
Transcript: ENSMUST00000110725
AA Change: N702K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106353
Gene: ENSMUSG00000035133
AA Change: N702K

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 damaging
Transcript: ENSMUST00000219443
AA Change: N702K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atm T C 9: 53,390,995 (GRCm39) T1860A probably benign Het
Bicdl1 A T 5: 115,811,217 (GRCm39) H231Q probably damaging Het
C2cd5 A C 6: 142,987,218 (GRCm39) D470E probably damaging Het
Chd5 T C 4: 152,451,751 (GRCm39) F688L probably damaging Het
Cul3 T C 1: 80,300,619 (GRCm39) Y74C probably damaging Het
Dhx16 A G 17: 36,203,429 (GRCm39) E1042G probably damaging Het
Dnah11 A G 12: 118,020,915 (GRCm39) L1966P probably damaging Het
Dpy19l1 A T 9: 24,386,682 (GRCm39) I204N possibly damaging Het
Drd2 T C 9: 49,313,559 (GRCm39) probably benign Het
Fasn A G 11: 120,711,166 (GRCm39) V228A probably damaging Het
Fggy T C 4: 95,737,846 (GRCm39) W148R probably benign Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Gpr89 A T 3: 96,804,741 (GRCm39) Y38* probably null Het
H2-M1 G A 17: 36,983,026 (GRCm39) H22Y possibly damaging Het
Kdm3b T A 18: 34,941,630 (GRCm39) S574T probably benign Het
Kmt2c C T 5: 25,578,018 (GRCm39) V753I probably benign Het
Lcn9 T C 2: 25,713,692 (GRCm39) F73L possibly damaging Het
Lnpep T C 17: 17,765,165 (GRCm39) T762A possibly damaging Het
Lrp2 C T 2: 69,291,649 (GRCm39) C3510Y probably damaging Het
Nlrp3 T A 11: 59,456,849 (GRCm39) probably benign Het
Or14c39 A G 7: 86,344,027 (GRCm39) Y121C probably damaging Het
Or1j18 A T 2: 36,624,356 (GRCm39) I8F probably benign Het
Or5b3 A G 19: 13,388,259 (GRCm39) T109A possibly damaging Het
Pcnx3 A T 19: 5,736,509 (GRCm39) V176E possibly damaging Het
Phlpp1 T C 1: 106,320,444 (GRCm39) S1480P probably benign Het
Ppfia3 T C 7: 44,991,141 (GRCm39) R1027G probably damaging Het
Rnf216 A G 5: 143,054,665 (GRCm39) Y628H possibly damaging Het
Sh3bp1 G A 15: 78,785,699 (GRCm39) R4Q probably damaging Het
Skint9 A G 4: 112,271,335 (GRCm39) probably benign Het
Slc25a51 A G 4: 45,400,074 (GRCm39) S39P probably benign Het
Smarca4 C T 9: 21,612,386 (GRCm39) R1558C probably damaging Het
Spag9 A G 11: 94,007,567 (GRCm39) S1224G probably benign Het
Spdl1 G T 11: 34,704,181 (GRCm39) Q551K probably benign Het
Sugt1 A G 14: 79,847,698 (GRCm39) I183V probably benign Het
Th G A 7: 142,453,643 (GRCm39) S19L probably damaging Het
Tmprss11g A G 5: 86,638,750 (GRCm39) V246A probably benign Het
Tnfaip8l2 T C 3: 95,047,714 (GRCm39) T50A probably benign Het
Tox3 G T 8: 90,984,759 (GRCm39) T140K possibly damaging Het
Unc50 T A 1: 37,476,531 (GRCm39) Y205* probably null Het
Vmn2r83 A T 10: 79,314,881 (GRCm39) K376N 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
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
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
Posted On 2015-04-16