Incidental Mutation 'IGL02989:Arhgap15'
| ID |
406851 |
| 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 # |
IGL02989
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
43638836-44285965 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43670748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 44
(D44G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055776]
[ENSMUST00000112822]
[ENSMUST00000112824]
|
| AlphaFold |
Q811M1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055776
AA Change: D44G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056461
Gene: ENSMUSG00000049744
AA Change: D44G
| 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: D44G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108441
Gene: ENSMUSG00000049744
AA Change: D44G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
88 |
108 |
5e-6 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112824
AA Change: D44G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108443
Gene: ENSMUSG00000049744
AA Change: D44G
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a1 |
T |
A |
19: 20,617,422 (GRCm39) |
|
probably benign |
Het |
| Arhgap35 |
A |
T |
7: 16,231,580 (GRCm39) |
*1500R |
probably null |
Het |
| Arid1b |
A |
G |
17: 5,385,322 (GRCm39) |
Y1413C |
probably damaging |
Het |
| Atf6 |
A |
G |
1: 170,616,252 (GRCm39) |
|
probably benign |
Het |
| Cant1 |
T |
C |
11: 118,302,038 (GRCm39) |
Y93C |
probably damaging |
Het |
| Cat |
A |
G |
2: 103,303,318 (GRCm39) |
F153S |
probably damaging |
Het |
| Ccdc187 |
G |
A |
2: 26,166,443 (GRCm39) |
R712W |
possibly damaging |
Het |
| Clpb |
T |
C |
7: 101,428,427 (GRCm39) |
S396P |
probably damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,339,813 (GRCm39) |
|
probably benign |
Het |
| Dap3 |
G |
A |
3: 88,837,878 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,046,403 (GRCm39) |
D3195V |
probably damaging |
Het |
| Eprs1 |
T |
G |
1: 185,150,563 (GRCm39) |
F1355C |
probably benign |
Het |
| Faim2 |
A |
G |
15: 99,418,243 (GRCm39) |
|
probably benign |
Het |
| Fancg |
A |
G |
4: 43,007,121 (GRCm39) |
|
probably benign |
Het |
| Fbxo42 |
T |
A |
4: 140,926,845 (GRCm39) |
I375N |
probably damaging |
Het |
| Gabrr3 |
A |
T |
16: 59,268,371 (GRCm39) |
D328V |
probably damaging |
Het |
| Gm5849 |
T |
A |
3: 90,685,107 (GRCm39) |
D26V |
probably damaging |
Het |
| Gm6563 |
T |
C |
19: 23,653,234 (GRCm39) |
L8P |
possibly damaging |
Het |
| Gpld1 |
A |
G |
13: 25,174,019 (GRCm39) |
N815D |
possibly damaging |
Het |
| Hrob |
A |
G |
11: 102,146,125 (GRCm39) |
I134V |
probably benign |
Het |
| Idh2 |
T |
A |
7: 79,748,856 (GRCm39) |
I142F |
probably damaging |
Het |
| Kcnh7 |
A |
C |
2: 62,552,269 (GRCm39) |
N907K |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,306,894 (GRCm39) |
T336A |
possibly damaging |
Het |
| Or4c15 |
A |
T |
2: 88,760,048 (GRCm39) |
S204T |
possibly damaging |
Het |
| Or52i2 |
T |
C |
7: 102,319,651 (GRCm39) |
S175P |
possibly damaging |
Het |
| Or5b3 |
C |
A |
19: 13,388,850 (GRCm39) |
Q306K |
probably benign |
Het |
| Pilrb1 |
C |
A |
5: 137,855,492 (GRCm39) |
R133L |
possibly damaging |
Het |
| Pitpnm3 |
C |
A |
11: 72,011,012 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
C |
T |
16: 15,617,880 (GRCm39) |
T3237I |
possibly damaging |
Het |
| Pspc1 |
A |
G |
14: 57,009,153 (GRCm39) |
|
probably benign |
Het |
| Rasgrp4 |
G |
A |
7: 28,847,831 (GRCm39) |
E414K |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,122,463 (GRCm39) |
L82Q |
probably damaging |
Het |
| Sh3gl3 |
T |
C |
7: 81,923,087 (GRCm39) |
V117A |
probably benign |
Het |
| Shisa5 |
G |
A |
9: 108,885,062 (GRCm39) |
A112T |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,634,820 (GRCm39) |
H662Q |
probably benign |
Het |
| Tedc1 |
A |
G |
12: 113,126,941 (GRCm39) |
E401G |
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,656,341 (GRCm39) |
M940T |
probably benign |
Het |
| Vmn1r129 |
A |
T |
7: 21,094,663 (GRCm39) |
V185E |
probably damaging |
Het |
| Zfp982 |
C |
A |
4: 147,597,052 (GRCm39) |
D136E |
possibly 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 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation