Incidental Mutation 'IGL02506:Arhgap15'
ID 296319
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap15
Ensembl Gene ENSMUSG00000049744
Gene Name Rho GTPase activating protein 15
Synonyms 5830480G12Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.465) question?
Stock # IGL02506
Quality Score
Status
Chromosome 2
Chromosomal Location 43638836-44285965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43953820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 182 (D182G)
Ref Sequence ENSEMBL: ENSMUSP00000108443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055776] [ENSMUST00000112822] [ENSMUST00000112824]
AlphaFold Q811M1
Predicted Effect probably benign
Transcript: ENSMUST00000055776
AA Change: D182G

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000056461
Gene: ENSMUSG00000049744
AA Change: D182G

DomainStartEndE-ValueType
PH 88 199 1.24e-9 SMART
RhoGAP 298 473 1.55e-63 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112822
SMART Domains Protein: ENSMUSP00000108441
Gene: ENSMUSG00000049744

DomainStartEndE-ValueType
Blast:PH 88 108 5e-6 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000112824
AA Change: D182G

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108443
Gene: ENSMUSG00000049744
AA Change: D182G

DomainStartEndE-ValueType
PH 88 199 1.24e-9 SMART
RhoGAP 298 469 1.16e-35 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139948
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a RAC GTPase-activating protein that is regulated through its PH domain and by recruitment to the membrane. The protein accelerates hydrolysis of guanosine triphosphate to guanosine diphosphate to repress Rac activity. Knock-out of Arhgap15 function demonstrates that this gene is required to regulate multiple functions in macrophages and neutrophils. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for disruption of this gene display reduced leukocyte numbers and abnormally shaped macrophage. Chemotactic responses of macrophage are normal while neutrophile chemoattraction and bacterial pagocytosis are increased. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 A G 17: 84,999,916 (GRCm39) E189G possibly damaging Het
Acad11 T C 9: 103,968,931 (GRCm39) probably null Het
Adcy7 G T 8: 89,044,571 (GRCm39) R488L probably damaging Het
Akt1 C T 12: 112,625,714 (GRCm39) probably benign Het
Ano9 C T 7: 140,682,167 (GRCm39) probably benign Het
Asxl3 T A 18: 22,585,456 (GRCm39) V127D probably benign Het
Cacna1g A G 11: 94,319,955 (GRCm39) M1407T probably damaging Het
Card9 A C 2: 26,244,427 (GRCm39) probably benign Het
Cdh5 A G 8: 104,864,454 (GRCm39) N472D probably damaging Het
Ceacam2 T A 7: 25,227,379 (GRCm39) T343S probably benign Het
Cic T A 7: 24,990,282 (GRCm39) C1928S probably benign Het
Clk3 C T 9: 57,661,927 (GRCm39) W31* probably null Het
Cntn4 A G 6: 106,595,349 (GRCm39) T489A probably benign Het
Crispld1 G A 1: 17,826,529 (GRCm39) R431H probably damaging Het
Crmp1 T A 5: 37,436,199 (GRCm39) probably benign Het
Cyld A G 8: 89,456,218 (GRCm39) T423A possibly damaging Het
Cyp3a44 A T 5: 145,736,198 (GRCm39) I84N probably damaging Het
D2hgdh A G 1: 93,757,507 (GRCm39) N141D probably damaging Het
Dip2b T A 15: 100,055,162 (GRCm39) L341Q probably damaging Het
F3 C T 3: 121,525,323 (GRCm39) T53I possibly damaging Het
Fam227b T A 2: 125,845,831 (GRCm39) Y386F probably benign Het
Fmn1 A T 2: 113,355,640 (GRCm39) T694S unknown Het
Gcnt2 T A 13: 41,040,856 (GRCm39) V5E probably benign Het
Herpud1 G T 8: 95,121,270 (GRCm39) E355* probably null Het
Igf1r T C 7: 67,843,144 (GRCm39) S752P probably benign Het
Iqsec1 T C 6: 90,649,057 (GRCm39) I687V possibly damaging Het
Kdm5a T C 6: 120,409,110 (GRCm39) S1598P probably damaging Het
Klk1b9 A G 7: 43,445,063 (GRCm39) E185G probably benign Het
Myo16 G T 8: 10,440,217 (GRCm39) R423L probably damaging Het
Myo7b T C 18: 32,100,207 (GRCm39) E1609G probably damaging Het
Nom1 T A 5: 29,644,814 (GRCm39) probably benign Het
Nomo1 A G 7: 45,727,480 (GRCm39) I1040V possibly damaging Het
Or8b39 G A 9: 37,996,741 (GRCm39) G203D probably damaging Het
Paqr9 T C 9: 95,442,748 (GRCm39) V246A probably benign Het
Pfkfb4 A T 9: 108,859,404 (GRCm39) D437V probably benign Het
Phldb1 G T 9: 44,622,223 (GRCm39) D797E probably benign Het
Pkd1l3 A G 8: 110,374,132 (GRCm39) E1399G probably damaging Het
Plekhs1 G A 19: 56,460,198 (GRCm39) C97Y probably damaging Het
Plscr4 A T 9: 92,372,044 (GRCm39) I272L possibly damaging Het
Prlhr A C 19: 60,456,366 (GRCm39) Y67D probably damaging Het
Rab3gap2 A G 1: 184,984,221 (GRCm39) probably benign Het
Rad23b T C 4: 55,382,511 (GRCm39) V238A probably benign Het
Sel1l2 T C 2: 140,117,380 (GRCm39) T164A possibly damaging Het
Serpinh1 T A 7: 98,996,199 (GRCm39) K295M probably damaging Het
Slc45a4 T C 15: 73,453,687 (GRCm39) E770G probably benign Het
Spag4 T C 2: 155,911,142 (GRCm39) L390P probably damaging Het
Stip1 A G 19: 7,012,857 (GRCm39) probably benign Het
Tacr1 A G 6: 82,380,739 (GRCm39) N50S probably damaging Het
Tg T C 15: 66,613,443 (GRCm39) V433A possibly damaging Het
Ubap1l T A 9: 65,276,493 (GRCm39) probably benign Het
Usp40 A T 1: 87,909,738 (GRCm39) I572K probably damaging Het
Vps13b G T 15: 35,917,308 (GRCm39) E3717D probably damaging Het
Wdr81 T C 11: 75,335,232 (GRCm39) N1778S probably benign Het
Ylpm1 T A 12: 85,095,965 (GRCm39) F1162Y probably damaging Het
Zbtb10 T A 3: 9,330,297 (GRCm39) F552I probably damaging Het
Zfp507 T C 7: 35,475,891 (GRCm39) I811V probably damaging Het
Zfp663 A T 2: 165,195,871 (GRCm39) V116D probably benign Het
Other mutations in Arhgap15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01533:Arhgap15 APN 2 44,133,165 (GRCm39) missense probably damaging 1.00
IGL01779:Arhgap15 APN 2 43,955,057 (GRCm39) missense possibly damaging 0.94
IGL02011:Arhgap15 APN 2 43,670,767 (GRCm39) missense probably damaging 1.00
IGL02659:Arhgap15 APN 2 43,953,849 (GRCm39) missense probably damaging 1.00
IGL02711:Arhgap15 APN 2 44,006,674 (GRCm39) missense possibly damaging 0.67
IGL02944:Arhgap15 APN 2 44,032,362 (GRCm39) critical splice donor site probably null
IGL02989:Arhgap15 APN 2 43,670,748 (GRCm39) missense probably damaging 1.00
PIT4468001:Arhgap15 UTSW 2 44,133,143 (GRCm39) missense probably damaging 1.00
R0140:Arhgap15 UTSW 2 44,212,779 (GRCm39) missense probably damaging 1.00
R0403:Arhgap15 UTSW 2 43,953,778 (GRCm39) missense probably damaging 0.98
R0557:Arhgap15 UTSW 2 44,006,629 (GRCm39) missense possibly damaging 0.60
R0616:Arhgap15 UTSW 2 44,006,729 (GRCm39) critical splice donor site probably null
R1122:Arhgap15 UTSW 2 44,032,307 (GRCm39) missense probably benign 0.43
R1958:Arhgap15 UTSW 2 44,133,136 (GRCm39) missense possibly damaging 0.67
R2258:Arhgap15 UTSW 2 44,276,359 (GRCm39) missense probably damaging 1.00
R2905:Arhgap15 UTSW 2 43,953,798 (GRCm39) missense probably damaging 0.97
R4788:Arhgap15 UTSW 2 43,638,902 (GRCm39) start codon destroyed probably null 0.02
R4793:Arhgap15 UTSW 2 44,032,353 (GRCm39) missense probably damaging 1.00
R5040:Arhgap15 UTSW 2 43,734,825 (GRCm39) critical splice donor site probably null
R5093:Arhgap15 UTSW 2 44,212,767 (GRCm39) missense probably damaging 1.00
R5114:Arhgap15 UTSW 2 43,670,630 (GRCm39) missense probably benign 0.03
R5202:Arhgap15 UTSW 2 43,953,869 (GRCm39) missense probably benign 0.22
R5446:Arhgap15 UTSW 2 43,718,772 (GRCm39) missense probably benign 0.00
R5661:Arhgap15 UTSW 2 44,212,739 (GRCm39) missense possibly damaging 0.54
R6747:Arhgap15 UTSW 2 44,006,689 (GRCm39) missense probably damaging 1.00
R7392:Arhgap15 UTSW 2 43,953,786 (GRCm39) missense possibly damaging 0.61
R7502:Arhgap15 UTSW 2 43,670,630 (GRCm39) missense probably benign 0.03
R7630:Arhgap15 UTSW 2 43,670,648 (GRCm39) missense probably benign 0.01
R7658:Arhgap15 UTSW 2 44,032,280 (GRCm39) missense probably benign 0.18
R7735:Arhgap15 UTSW 2 44,006,642 (GRCm39) missense probably damaging 1.00
R8734:Arhgap15 UTSW 2 44,133,130 (GRCm39) missense probably damaging 1.00
R8743:Arhgap15 UTSW 2 43,638,876 (GRCm39) start gained probably benign
Posted On 2015-04-16