Incidental Mutation 'IGL01779:Arhgap15'
ID 153884
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap15
Ensembl Gene ENSMUSG00000049744
Gene Name Rho GTPase activating protein 15
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.396) question?
Stock # IGL01779
Quality Score
Status
Chromosome 2
Chromosomal Location 43748824-44395953 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44065045 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 220 (E220G)
Ref Sequence ENSEMBL: ENSMUSP00000108443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055776] [ENSMUST00000112822] [ENSMUST00000112824]
AlphaFold Q811M1
Predicted Effect possibly damaging
Transcript: ENSMUST00000055776
AA Change: E220G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000056461
Gene: ENSMUSG00000049744
AA Change: E220G

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: E220G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108443
Gene: ENSMUSG00000049744
AA Change: E220G

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A T 5: 81,387,870 I119F probably damaging Het
Akt1 C T 12: 112,657,169 G286R probably damaging Het
Apof A G 10: 128,269,477 I167V probably benign Het
Clca3a2 T A 3: 144,819,378 Y31F possibly damaging Het
Clmn T C 12: 104,782,140 I383V probably benign Het
Cntnap5b A G 1: 99,967,339 D112G probably damaging Het
Col8a1 A T 16: 57,628,363 H261Q unknown Het
Csmd3 A T 15: 47,857,894 V1551D probably benign Het
Ddx60 G A 8: 62,017,823 V1450M possibly damaging Het
Ethe1 A T 7: 24,595,009 H79L probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm11110 C T 17: 57,102,087 probably benign Het
Hs1bp3 C T 12: 8,341,945 T349I probably benign Het
Ifna16 A T 4: 88,676,645 I71N probably damaging Het
Il18bp A G 7: 102,016,795 Y59H possibly damaging Het
Kcnt1 T A 2: 25,900,967 I511N probably damaging Het
Mlph A G 1: 90,942,950 M528V probably benign Het
Olfr646 A G 7: 104,106,633 D118G probably damaging Het
Pprc1 T A 19: 46,062,202 I52N probably damaging Het
Rfx1 T A 8: 84,092,662 probably benign Het
Rnf17 A T 14: 56,462,063 I553F probably benign Het
Scaper A T 9: 55,892,240 H180Q probably benign Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc30a10 A T 1: 185,464,179 Q346L possibly damaging Het
Stambpl1 A T 19: 34,240,027 H422L possibly damaging Het
Trim67 G A 8: 124,828,121 G701R probably damaging Het
Vipr1 T C 9: 121,664,630 F249S probably damaging Het
Vmn2r117 G T 17: 23,477,241 D397E probably benign Het
Other mutations in Arhgap15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01533:Arhgap15 APN 2 44243153 missense probably damaging 1.00
IGL02011:Arhgap15 APN 2 43780755 missense probably damaging 1.00
IGL02506:Arhgap15 APN 2 44063808 missense possibly damaging 0.73
IGL02659:Arhgap15 APN 2 44063837 missense probably damaging 1.00
IGL02711:Arhgap15 APN 2 44116662 missense possibly damaging 0.67
IGL02944:Arhgap15 APN 2 44142350 critical splice donor site probably null
IGL02989:Arhgap15 APN 2 43780736 missense probably damaging 1.00
PIT4468001:Arhgap15 UTSW 2 44243131 missense probably damaging 1.00
R0140:Arhgap15 UTSW 2 44322767 missense probably damaging 1.00
R0403:Arhgap15 UTSW 2 44063766 missense probably damaging 0.98
R0557:Arhgap15 UTSW 2 44116617 missense possibly damaging 0.60
R0616:Arhgap15 UTSW 2 44116717 critical splice donor site probably null
R1122:Arhgap15 UTSW 2 44142295 missense probably benign 0.43
R1958:Arhgap15 UTSW 2 44243124 missense possibly damaging 0.67
R2258:Arhgap15 UTSW 2 44386347 missense probably damaging 1.00
R2905:Arhgap15 UTSW 2 44063786 missense probably damaging 0.97
R4788:Arhgap15 UTSW 2 43748890 start codon destroyed probably null 0.02
R4793:Arhgap15 UTSW 2 44142341 missense probably damaging 1.00
R5040:Arhgap15 UTSW 2 43844813 critical splice donor site probably null
R5093:Arhgap15 UTSW 2 44322755 missense probably damaging 1.00
R5114:Arhgap15 UTSW 2 43780618 missense probably benign 0.03
R5202:Arhgap15 UTSW 2 44063857 missense probably benign 0.22
R5446:Arhgap15 UTSW 2 43828760 missense probably benign 0.00
R5661:Arhgap15 UTSW 2 44322727 missense possibly damaging 0.54
R6747:Arhgap15 UTSW 2 44116677 missense probably damaging 1.00
R7392:Arhgap15 UTSW 2 44063774 missense possibly damaging 0.61
R7502:Arhgap15 UTSW 2 43780618 missense probably benign 0.03
R7630:Arhgap15 UTSW 2 43780636 missense probably benign 0.01
R7658:Arhgap15 UTSW 2 44142268 missense probably benign 0.18
R7735:Arhgap15 UTSW 2 44116630 missense probably damaging 1.00
R8734:Arhgap15 UTSW 2 44243118 missense probably damaging 1.00
R8743:Arhgap15 UTSW 2 43748864 start gained probably benign
Posted On 2014-02-04