Incidental Mutation 'IGL01533:Arhgap15'
ID |
89846 |
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: 0.497)
|
Stock # |
IGL01533
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
43638836-44285965 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 44133165 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 357
(V357A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108443
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055776]
[ENSMUST00000112822]
[ENSMUST00000112824]
|
AlphaFold |
Q811M1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055776
AA Change: V357A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000056461 Gene: ENSMUSG00000049744 AA Change: V357A
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
Blast:PH
|
88 |
108 |
5e-6 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112824
AA Change: V357A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108443 Gene: ENSMUSG00000049744 AA Change: V357A
Domain | Start | End | E-Value | Type |
PH
|
88 |
199 |
1.24e-9 |
SMART |
RhoGAP
|
298 |
469 |
1.16e-35 |
SMART |
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
C |
A |
18: 67,538,488 (GRCm39) |
E757* |
probably null |
Het |
Asb13 |
T |
C |
13: 3,692,164 (GRCm39) |
V48A |
probably benign |
Het |
Bbs7 |
T |
C |
3: 36,664,384 (GRCm39) |
R74G |
possibly damaging |
Het |
Capn11 |
T |
C |
17: 45,943,830 (GRCm39) |
H568R |
probably benign |
Het |
Cbx5 |
T |
C |
15: 103,114,061 (GRCm39) |
E61G |
probably damaging |
Het |
Ccdc158 |
T |
C |
5: 92,757,815 (GRCm39) |
|
probably null |
Het |
Col14a1 |
C |
A |
15: 55,284,236 (GRCm39) |
N832K |
unknown |
Het |
Cyp2a4 |
A |
T |
7: 26,007,969 (GRCm39) |
K125N |
probably damaging |
Het |
Dhx16 |
T |
C |
17: 36,192,939 (GRCm39) |
L215P |
probably damaging |
Het |
Dtx4 |
T |
C |
19: 12,455,579 (GRCm39) |
M480V |
possibly damaging |
Het |
Edaradd |
A |
G |
13: 12,493,463 (GRCm39) |
|
probably benign |
Het |
Galnt13 |
T |
A |
2: 54,770,144 (GRCm39) |
M312K |
probably damaging |
Het |
Gcdh |
T |
A |
8: 85,615,991 (GRCm39) |
R337W |
probably damaging |
Het |
Gm28557 |
A |
T |
13: 67,219,396 (GRCm39) |
C109* |
probably null |
Het |
Gpr22 |
C |
T |
12: 31,758,709 (GRCm39) |
|
probably benign |
Het |
Gria4 |
T |
G |
9: 4,502,395 (GRCm39) |
L379F |
probably damaging |
Het |
Gxylt2 |
T |
C |
6: 100,760,098 (GRCm39) |
L211P |
probably damaging |
Het |
Igsf10 |
T |
A |
3: 59,226,651 (GRCm39) |
I2341F |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,367,666 (GRCm39) |
D2365G |
probably damaging |
Het |
Morc2b |
A |
G |
17: 33,354,695 (GRCm39) |
|
probably benign |
Het |
Ncoa3 |
T |
C |
2: 165,896,945 (GRCm39) |
S579P |
probably benign |
Het |
Nlgn1 |
T |
C |
3: 25,490,527 (GRCm39) |
N400S |
possibly damaging |
Het |
Or5w17 |
C |
A |
2: 87,583,412 (GRCm39) |
R308S |
probably benign |
Het |
Or8g17 |
C |
T |
9: 38,930,097 (GRCm39) |
A247T |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,126,065 (GRCm39) |
S1102P |
probably benign |
Het |
Polr1e |
A |
G |
4: 45,019,328 (GRCm39) |
Y59C |
probably damaging |
Het |
Prex2 |
C |
T |
1: 11,256,965 (GRCm39) |
Q1226* |
probably null |
Het |
Rab12 |
A |
T |
17: 66,804,430 (GRCm39) |
I176K |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,736,676 (GRCm39) |
N2250K |
probably damaging |
Het |
Sbf1 |
T |
C |
15: 89,172,919 (GRCm39) |
T1865A |
probably damaging |
Het |
Sema6b |
G |
A |
17: 56,436,499 (GRCm39) |
|
probably benign |
Het |
Smarcb1 |
C |
T |
10: 75,752,602 (GRCm39) |
|
probably null |
Het |
Sos1 |
A |
G |
17: 80,722,511 (GRCm39) |
L845S |
probably damaging |
Het |
Stat4 |
T |
A |
1: 52,137,578 (GRCm39) |
N456K |
probably damaging |
Het |
Tex264 |
A |
G |
9: 106,550,798 (GRCm39) |
I133T |
probably benign |
Het |
Thoc1 |
T |
C |
18: 9,962,376 (GRCm39) |
V87A |
probably benign |
Het |
Tmem131 |
C |
T |
1: 36,857,803 (GRCm39) |
D778N |
probably damaging |
Het |
Tspan14 |
A |
G |
14: 40,638,776 (GRCm39) |
I88T |
probably benign |
Het |
Ttn |
C |
A |
2: 76,562,918 (GRCm39) |
V28679L |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,782,285 (GRCm39) |
S984P |
probably damaging |
Het |
Vangl1 |
T |
C |
3: 102,070,667 (GRCm39) |
E423G |
possibly damaging |
Het |
|
Other mutations in Arhgap15 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02506:Arhgap15
|
APN |
2 |
43,953,820 (GRCm39) |
missense |
possibly damaging |
0.73 |
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 |
2013-12-03 |