Incidental Mutation 'R2905:Arhgap15'
| ID |
261606 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap15
|
| Ensembl Gene |
ENSMUSG00000049744 |
| Gene Name |
Rho GTPase activating protein 15 |
| Synonyms |
5830480G12Rik |
| MMRRC Submission |
040492-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.465)
|
| Stock # |
R2905 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
43638836-44285965 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43953798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 175
(F175L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056461
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055776]
[ENSMUST00000112822]
[ENSMUST00000112824]
|
| AlphaFold |
Q811M1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055776
AA Change: F175L
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000056461
Gene: ENSMUSG00000049744
AA Change: F175L
| 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 |
possibly damaging
Transcript: ENSMUST00000112824
AA Change: F175L
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108443
Gene: ENSMUSG00000049744
AA Change: F175L
| 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: ENSMUST00000128630
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139948
|
| Meta Mutation Damage Score |
0.2306 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (32/32) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajap1 |
C |
A |
4: 153,517,284 (GRCm39) |
R19L |
probably benign |
Het |
| Alk |
A |
C |
17: 72,292,489 (GRCm39) |
S496R |
probably benign |
Het |
| Col12a1 |
G |
T |
9: 79,559,307 (GRCm39) |
S1860R |
probably damaging |
Het |
| Cuedc2 |
C |
T |
19: 46,321,088 (GRCm39) |
V15I |
probably benign |
Het |
| Dennd3 |
T |
A |
15: 73,429,495 (GRCm39) |
L4Q |
probably damaging |
Het |
| Dusp8 |
T |
A |
7: 141,637,126 (GRCm39) |
K234* |
probably null |
Het |
| Dzip1l |
A |
G |
9: 99,545,722 (GRCm39) |
E657G |
probably damaging |
Het |
| F7 |
C |
T |
8: 13,084,775 (GRCm39) |
T267I |
probably benign |
Het |
| Gm9791 |
T |
C |
3: 34,059,336 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
A |
G |
1: 150,624,786 (GRCm39) |
S1040P |
probably damaging |
Het |
| Ift56 |
T |
C |
6: 38,378,037 (GRCm39) |
V283A |
possibly damaging |
Het |
| Jtb |
C |
G |
3: 90,139,799 (GRCm39) |
P62R |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Ly6m |
T |
A |
15: 74,751,716 (GRCm39) |
Y106F |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,164,898 (GRCm39) |
V760A |
probably benign |
Het |
| Nudt4 |
T |
G |
10: 95,399,571 (GRCm39) |
K17Q |
probably benign |
Het |
| Or6c217 |
T |
C |
10: 129,738,269 (GRCm39) |
I103M |
possibly damaging |
Het |
| Pde4a |
A |
T |
9: 21,112,645 (GRCm39) |
T274S |
probably benign |
Het |
| Pou6f1 |
C |
T |
15: 100,483,839 (GRCm39) |
V220I |
probably benign |
Het |
| Relch |
T |
C |
1: 105,619,719 (GRCm39) |
V316A |
probably benign |
Het |
| Rif1 |
T |
C |
2: 51,988,516 (GRCm39) |
S752P |
probably damaging |
Het |
| Ror2 |
A |
G |
13: 53,286,031 (GRCm39) |
I73T |
probably benign |
Het |
| Samhd1 |
A |
T |
2: 156,965,335 (GRCm39) |
F160Y |
possibly damaging |
Het |
| Tas2r118 |
A |
G |
6: 23,969,801 (GRCm39) |
F87L |
possibly damaging |
Het |
| Thop1 |
T |
C |
10: 80,915,425 (GRCm39) |
L295P |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,509,802 (GRCm39) |
M816T |
probably damaging |
Het |
| Trip12 |
T |
C |
1: 84,732,064 (GRCm39) |
N970S |
probably benign |
Het |
| Ttll8 |
A |
T |
15: 88,798,680 (GRCm39) |
M685K |
probably benign |
Het |
| Ushbp1 |
G |
A |
8: 71,840,179 (GRCm39) |
R491* |
probably null |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAATGTCAGCATTCTCCTTAGTTCC -3'
(R):5'- TACCTCACAAATCTTGACGGAAG -3'
Sequencing Primer
(F):5'- AGCATTCTCCTTAGTTCCCAGAAAG -3'
(R):5'- GCTAGTATCTCTCAGACATAGGATCC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation