Incidental Mutation 'R5446:Arhgap15'
ID |
429058 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap15
|
Ensembl Gene |
ENSMUSG00000049744 |
Gene Name |
Rho GTPase activating protein 15 |
Synonyms |
5830480G12Rik |
MMRRC Submission |
043011-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.497)
|
Stock # |
R5446 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
43638836-44285965 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 43718772 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 85
(H85Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108443
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055776]
[ENSMUST00000112822]
[ENSMUST00000112824]
|
AlphaFold |
Q811M1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055776
AA Change: H85Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000056461 Gene: ENSMUSG00000049744 AA Change: H85Q
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
AA Change: H85Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000108441 Gene: ENSMUSG00000049744 AA Change: H85Q
Domain | Start | End | E-Value | Type |
Blast:PH
|
88 |
108 |
5e-6 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112824
AA Change: H85Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000108443 Gene: ENSMUSG00000049744 AA Change: H85Q
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
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 |
Adar |
A |
G |
3: 89,647,486 (GRCm39) |
N155S |
probably damaging |
Het |
Ak9 |
A |
G |
10: 41,296,505 (GRCm39) |
D1417G |
possibly damaging |
Het |
Ankrd52 |
G |
T |
10: 128,224,430 (GRCm39) |
C736F |
probably damaging |
Het |
Bcat2 |
G |
A |
7: 45,234,569 (GRCm39) |
R110H |
possibly damaging |
Het |
Bscl2 |
A |
G |
19: 8,823,564 (GRCm39) |
H4R |
possibly damaging |
Het |
Cdh2 |
T |
C |
18: 16,779,684 (GRCm39) |
I126V |
probably damaging |
Het |
Cnbd2 |
A |
C |
2: 156,209,581 (GRCm39) |
E508A |
possibly damaging |
Het |
Crb2 |
T |
C |
2: 37,685,461 (GRCm39) |
I1191T |
probably benign |
Het |
Dync2h1 |
T |
C |
9: 7,144,217 (GRCm39) |
T1075A |
probably benign |
Het |
Edil3 |
A |
C |
13: 89,332,957 (GRCm39) |
H371P |
possibly damaging |
Het |
Gm5134 |
T |
C |
10: 75,831,670 (GRCm39) |
S370P |
probably damaging |
Het |
Helz |
T |
C |
11: 107,523,030 (GRCm39) |
V737A |
probably damaging |
Het |
Jade2 |
A |
G |
11: 51,707,786 (GRCm39) |
V809A |
probably benign |
Het |
Klhl23 |
T |
A |
2: 69,654,582 (GRCm39) |
C151S |
probably damaging |
Het |
Krt75 |
T |
C |
15: 101,479,502 (GRCm39) |
D276G |
probably null |
Het |
Lipm |
C |
T |
19: 34,095,287 (GRCm39) |
A294V |
possibly damaging |
Het |
Med13l |
A |
G |
5: 118,880,462 (GRCm39) |
N1185D |
possibly damaging |
Het |
Mmp27 |
T |
A |
9: 7,573,516 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
A |
T |
1: 88,182,687 (GRCm39) |
N1205I |
possibly damaging |
Het |
Muc21 |
T |
A |
17: 35,933,395 (GRCm39) |
|
probably benign |
Het |
Npnt |
A |
G |
3: 132,614,130 (GRCm39) |
L191P |
probably damaging |
Het |
Or4c10b |
A |
T |
2: 89,711,893 (GRCm39) |
H241L |
probably damaging |
Het |
Paip2b |
T |
C |
6: 83,791,844 (GRCm39) |
I13V |
probably benign |
Het |
Pcdhac2 |
T |
A |
18: 37,278,253 (GRCm39) |
L411Q |
probably damaging |
Het |
Plekhd1 |
A |
G |
12: 80,767,410 (GRCm39) |
N266S |
probably benign |
Het |
Pnpla8 |
A |
G |
12: 44,337,368 (GRCm39) |
T454A |
possibly damaging |
Het |
Prkcg |
A |
T |
7: 3,378,780 (GRCm39) |
Y675F |
probably benign |
Het |
Pwwp2b |
T |
A |
7: 138,835,066 (GRCm39) |
I169N |
probably damaging |
Het |
Rreb1 |
G |
A |
13: 38,082,473 (GRCm39) |
R86H |
possibly damaging |
Het |
Smok3c |
A |
C |
5: 138,062,895 (GRCm39) |
L127F |
probably damaging |
Het |
St6galnac1 |
T |
A |
11: 116,657,095 (GRCm39) |
M427L |
probably benign |
Het |
Synm |
T |
C |
7: 67,385,722 (GRCm39) |
T205A |
probably benign |
Het |
Tsbp1 |
T |
C |
17: 34,659,867 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Vmn2r112 |
A |
G |
17: 22,837,231 (GRCm39) |
Y564C |
probably damaging |
Het |
Vmn2r90 |
A |
C |
17: 17,932,464 (GRCm39) |
T124P |
probably damaging |
Het |
Vpreb1a |
A |
T |
16: 16,686,554 (GRCm39) |
V112E |
probably damaging |
Het |
Zfp451 |
A |
G |
1: 33,816,609 (GRCm39) |
L447S |
probably damaging |
Het |
Zfp746 |
T |
C |
6: 48,041,107 (GRCm39) |
T539A |
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 |
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 |
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'- TTGCACCCAGCCATATTGT -3'
(R):5'- TGCAGAACACTCACATCCAAGATTT -3'
Sequencing Primer
(F):5'- CATATTGACTAAATTGTGCTCA -3'
(R):5'- TGAGCTTGACACTACCTCAGTCAG -3'
|
Posted On |
2016-09-06 |