Incidental Mutation 'IGL02011:Arhgap15'
ID |
183363 |
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)
|
Stock # |
IGL02011
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
43638836-44285965 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 43670767 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 50
(K50N)
|
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: K50N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000056461 Gene: ENSMUSG00000049744 AA Change: K50N
Domain | Start | End | E-Value | Type |
PH
|
88 |
199 |
1.24e-9 |
SMART |
RhoGAP
|
298 |
473 |
1.55e-63 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112822
AA Change: K50N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108441 Gene: ENSMUSG00000049744 AA Change: K50N
Domain | Start | End | E-Value | Type |
Blast:PH
|
88 |
108 |
5e-6 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112824
AA Change: K50N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108443 Gene: ENSMUSG00000049744 AA Change: K50N
Domain | Start | End | E-Value | Type |
PH
|
88 |
199 |
1.24e-9 |
SMART |
RhoGAP
|
298 |
469 |
1.16e-35 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140528
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap5m1 |
T |
A |
14: 49,318,592 (GRCm39) |
|
probably benign |
Het |
Arg1 |
T |
C |
10: 24,792,275 (GRCm39) |
T215A |
probably benign |
Het |
Ctdsp1 |
C |
T |
1: 74,433,175 (GRCm39) |
|
probably benign |
Het |
Cwc22 |
A |
T |
2: 77,751,366 (GRCm39) |
D363E |
possibly damaging |
Het |
Drd2 |
G |
T |
9: 49,318,258 (GRCm39) |
C400F |
probably damaging |
Het |
Eef1akmt1 |
A |
T |
14: 57,795,555 (GRCm39) |
Y65N |
probably damaging |
Het |
Gbp10 |
C |
A |
5: 105,368,967 (GRCm39) |
G291W |
probably damaging |
Het |
Lrit1 |
T |
A |
14: 36,784,280 (GRCm39) |
V536E |
probably damaging |
Het |
Or4d1 |
C |
A |
11: 87,805,708 (GRCm39) |
W8L |
probably benign |
Het |
Or52ab4 |
G |
T |
7: 102,988,056 (GRCm39) |
R265L |
probably damaging |
Het |
Or9s15 |
T |
A |
1: 92,524,621 (GRCm39) |
Y127N |
probably damaging |
Het |
Pcdh12 |
C |
T |
18: 38,414,473 (GRCm39) |
G884D |
probably damaging |
Het |
Pih1d1 |
G |
T |
7: 44,806,156 (GRCm39) |
A31S |
probably damaging |
Het |
Plcxd2 |
T |
C |
16: 45,785,454 (GRCm39) |
D317G |
probably damaging |
Het |
Prkaca |
T |
C |
8: 84,717,565 (GRCm39) |
F231S |
probably damaging |
Het |
Raet1d |
T |
A |
10: 22,247,473 (GRCm39) |
I183K |
probably damaging |
Het |
Scaper |
A |
G |
9: 55,487,606 (GRCm39) |
F752S |
probably damaging |
Het |
Shisa9 |
C |
T |
16: 12,062,502 (GRCm39) |
T241I |
possibly damaging |
Het |
Taar9 |
C |
T |
10: 23,984,477 (GRCm39) |
R319H |
possibly damaging |
Het |
Unkl |
T |
A |
17: 25,437,565 (GRCm39) |
V365E |
probably damaging |
Het |
Usp34 |
C |
T |
11: 23,421,554 (GRCm39) |
S3077F |
probably damaging |
Het |
Vps16 |
A |
G |
2: 130,283,399 (GRCm39) |
I566V |
probably benign |
Het |
Vrk2 |
T |
A |
11: 26,421,717 (GRCm39) |
T414S |
probably benign |
Het |
Xpnpep1 |
A |
T |
19: 52,990,896 (GRCm39) |
|
probably benign |
Het |
Zfp804a |
A |
G |
2: 82,087,035 (GRCm39) |
Q288R |
probably damaging |
Het |
|
Other mutations in Arhgap15 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
2014-05-07 |