Incidental Mutation 'IGL03375:Arhgap31'
ID420457
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap31
Ensembl Gene ENSMUSG00000022799
Gene NameRho GTPase activating protein 31
SynonymsCdGAP
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.232) question?
Stock #IGL03375
Quality Score
Status
Chromosome16
Chromosomal Location38598340-38713274 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 38602828 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 959 (S959P)
Ref Sequence ENSEMBL: ENSMUSP00000023487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023487]
Predicted Effect probably damaging
Transcript: ENSMUST00000023487
AA Change: S959P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023487
Gene: ENSMUSG00000022799
AA Change: S959P

DomainStartEndE-ValueType
RhoGAP 32 213 1.04e-60 SMART
low complexity region 291 303 N/A INTRINSIC
low complexity region 503 522 N/A INTRINSIC
low complexity region 670 683 N/A INTRINSIC
low complexity region 722 733 N/A INTRINSIC
low complexity region 766 786 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arrb2 G A 11: 70,436,179 G24D probably damaging Het
Catsper4 A G 4: 134,218,208 I180T probably damaging Het
Chst15 G A 7: 132,270,457 Q32* probably null Het
Cntnap5c A T 17: 58,162,205 Y594F possibly damaging Het
Cse1l T A 2: 166,943,057 probably benign Het
Dab1 A T 4: 104,681,601 I201F possibly damaging Het
Eif2ak4 T C 2: 118,422,318 V457A probably benign Het
Fkbp1b T C 12: 4,838,220 probably benign Het
Fryl C A 5: 73,088,449 V1122F possibly damaging Het
Gas2l2 A G 11: 83,426,210 probably benign Het
Gm960 T C 19: 4,698,178 E164G probably benign Het
Gstt2 A T 10: 75,832,821 probably null Het
Hcst T G 7: 30,418,611 probably benign Het
Hectd4 A G 5: 121,328,382 E2420G possibly damaging Het
Hist2h4 T C 3: 96,263,142 T55A possibly damaging Het
Ifi206 A T 1: 173,480,778 S551T probably benign Het
Itgb3bp A G 4: 99,769,487 probably benign Het
Krtap6-2 A G 16: 89,419,756 Y108H unknown Het
Krtap6-5 T G 16: 89,047,852 probably benign Het
Muc5b A G 7: 141,861,962 T2882A possibly damaging Het
Nup214 C T 2: 32,010,221 T854M probably damaging Het
Olfml2b A G 1: 170,649,832 K179E probably benign Het
Olfr1281 A T 2: 111,328,884 H155L probably damaging Het
Olfr149 A G 9: 39,702,575 S65P probably damaging Het
Per2 A T 1: 91,424,228 I852K possibly damaging Het
Pkhd1 A T 1: 20,117,023 I3687N probably damaging Het
Slc7a2 A T 8: 40,916,373 S622C probably damaging Het
Smarcc2 G A 10: 128,482,912 V719I probably damaging Het
Syne2 T C 12: 75,925,435 I1033T possibly damaging Het
Tmod1 T C 4: 46,096,999 I264T probably damaging Het
Tmtc3 G A 10: 100,447,719 A658V possibly damaging Het
Tpm3 A G 3: 90,073,772 E56G possibly damaging Het
Tra2b T C 16: 22,247,243 probably benign Het
Trmu T A 15: 85,894,937 Y262N possibly damaging Het
Uox C T 3: 146,625,835 T213I probably damaging Het
Vps13d A G 4: 145,091,947 W2R probably damaging Het
Other mutations in Arhgap31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00741:Arhgap31 APN 16 38603001 missense probably damaging 1.00
IGL01062:Arhgap31 APN 16 38601456 missense probably damaging 1.00
IGL01152:Arhgap31 APN 16 38602239 missense possibly damaging 0.49
IGL01680:Arhgap31 APN 16 38603614 missense probably benign 0.04
IGL01739:Arhgap31 APN 16 38603431 missense probably benign
IGL01870:Arhgap31 APN 16 38618242 missense probably damaging 1.00
IGL01936:Arhgap31 APN 16 38602925 missense probably damaging 1.00
IGL01981:Arhgap31 APN 16 38601573 missense probably damaging 1.00
IGL01983:Arhgap31 APN 16 38601765 missense probably damaging 1.00
IGL02157:Arhgap31 APN 16 38623901 missense probably damaging 1.00
IGL02629:Arhgap31 APN 16 38609164 missense probably benign 0.00
PIT4283001:Arhgap31 UTSW 16 38608992 missense probably damaging 1.00
R0271:Arhgap31 UTSW 16 38602510 missense possibly damaging 0.61
R1325:Arhgap31 UTSW 16 38602942 missense probably benign 0.00
R1753:Arhgap31 UTSW 16 38601612 missense possibly damaging 0.92
R1766:Arhgap31 UTSW 16 38625590 missense probably damaging 1.00
R1834:Arhgap31 UTSW 16 38603703 missense probably benign 0.02
R2104:Arhgap31 UTSW 16 38625579 missense probably benign 0.03
R2261:Arhgap31 UTSW 16 38609277 missense probably damaging 1.00
R3011:Arhgap31 UTSW 16 38601907 missense possibly damaging 0.58
R3712:Arhgap31 UTSW 16 38602533 missense possibly damaging 0.91
R3757:Arhgap31 UTSW 16 38637000 missense probably damaging 1.00
R3953:Arhgap31 UTSW 16 38603464 missense probably benign 0.00
R4105:Arhgap31 UTSW 16 38602426 missense probably damaging 1.00
R4107:Arhgap31 UTSW 16 38602426 missense probably damaging 1.00
R4108:Arhgap31 UTSW 16 38602426 missense probably damaging 1.00
R4109:Arhgap31 UTSW 16 38602426 missense probably damaging 1.00
R4198:Arhgap31 UTSW 16 38623913 missense probably damaging 1.00
R4200:Arhgap31 UTSW 16 38623913 missense probably damaging 1.00
R4273:Arhgap31 UTSW 16 38602335 missense possibly damaging 0.92
R5020:Arhgap31 UTSW 16 38603076 missense probably damaging 1.00
R5100:Arhgap31 UTSW 16 38601459 missense probably damaging 1.00
R6516:Arhgap31 UTSW 16 38609404 missense possibly damaging 0.47
R6879:Arhgap31 UTSW 16 38602314 missense probably benign
R7341:Arhgap31 UTSW 16 38712514 intron probably null
X0063:Arhgap31 UTSW 16 38602398 missense probably damaging 0.99
Posted On2016-08-02