Incidental Mutation 'R7630:Arhgap15'
| ID |
589581 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap15
|
| Ensembl Gene |
ENSMUSG00000049744 |
| Gene Name |
Rho GTPase activating protein 15 |
| Synonyms |
5830480G12Rik |
| MMRRC Submission |
045691-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.465)
|
| Stock # |
R7630 (G1)
|
| Quality Score |
212.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
43638836-44285965 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43670648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 11
(T11A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056461
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055776]
[ENSMUST00000112822]
[ENSMUST00000112824]
|
| AlphaFold |
Q811M1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055776
AA Change: T11A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000056461
Gene: ENSMUSG00000049744
AA Change: T11A
| 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: T11A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000108441
Gene: ENSMUSG00000049744
AA Change: T11A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
88 |
108 |
5e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112824
AA Change: T11A
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000108443
Gene: ENSMUSG00000049744
AA Change: T11A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
88 |
199 |
1.24e-9 |
SMART |
|
RhoGAP
|
298 |
469 |
1.16e-35 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
93% (40/43) |
| 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 |
|---|
| A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
| Agbl1 |
A |
T |
7: 76,535,904 (GRCm39) |
I1019F |
unknown |
Het |
| Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
| Atg2b |
T |
C |
12: 105,613,213 (GRCm39) |
|
probably null |
Het |
| Aup1 |
C |
A |
6: 83,031,904 (GRCm39) |
D50E |
unknown |
Het |
| Ccl25 |
A |
G |
8: 4,403,955 (GRCm39) |
Y49C |
probably damaging |
Het |
| Cnga3 |
A |
G |
1: 37,297,127 (GRCm39) |
D148G |
probably damaging |
Het |
| Cpeb3 |
A |
T |
19: 37,031,693 (GRCm39) |
F570I |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,373,120 (GRCm39) |
|
probably null |
Het |
| Eif2d |
C |
T |
1: 131,082,103 (GRCm39) |
T65M |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,267,588 (GRCm39) |
I426V |
possibly damaging |
Het |
| Hgf |
T |
C |
5: 16,803,248 (GRCm39) |
S387P |
probably benign |
Het |
| Hyal6 |
T |
C |
6: 24,734,583 (GRCm39) |
V172A |
probably damaging |
Het |
| Il10ra |
T |
C |
9: 45,167,369 (GRCm39) |
D396G |
probably damaging |
Het |
| Kif26a |
A |
G |
12: 112,142,131 (GRCm39) |
D795G |
probably damaging |
Het |
| Lrrc8c |
T |
A |
5: 105,755,568 (GRCm39) |
S448T |
probably damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,044,824 (GRCm39) |
D1582G |
possibly damaging |
Het |
| Or14c42-ps1 |
T |
C |
7: 86,211,680 (GRCm39) |
S247P |
probably damaging |
Het |
| Or1l4b |
A |
C |
2: 37,036,371 (GRCm39) |
D49A |
probably damaging |
Het |
| Osmr |
T |
C |
15: 6,846,452 (GRCm39) |
I741V |
possibly damaging |
Het |
| Plec |
C |
T |
15: 76,074,816 (GRCm39) |
|
probably null |
Het |
| Prkag3 |
A |
G |
1: 74,783,894 (GRCm39) |
F330L |
probably damaging |
Het |
| Prkn |
A |
G |
17: 11,456,455 (GRCm39) |
E93G |
probably benign |
Het |
| Rexo4 |
A |
T |
2: 26,850,622 (GRCm39) |
F247I |
probably damaging |
Het |
| Rph3a |
T |
C |
5: 121,081,113 (GRCm39) |
D628G |
probably damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Rxylt1 |
T |
C |
10: 121,931,865 (GRCm39) |
I103V |
possibly damaging |
Het |
| Scnn1g |
T |
C |
7: 121,359,704 (GRCm39) |
S396P |
probably damaging |
Het |
| Slc1a5 |
G |
A |
7: 16,529,732 (GRCm39) |
V384M |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Smc4 |
CTA |
CTATA |
3: 68,925,400 (GRCm39) |
|
probably benign |
Het |
| Synpo2 |
A |
G |
3: 122,873,681 (GRCm39) |
V1154A |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,667,734 (GRCm39) |
V105A |
probably benign |
Het |
| Tapbp |
T |
C |
17: 34,139,318 (GRCm39) |
S105P |
probably benign |
Het |
| Tmem79 |
T |
C |
3: 88,240,768 (GRCm39) |
E60G |
possibly damaging |
Het |
| Txnrd2 |
A |
G |
16: 18,257,140 (GRCm39) |
D152G |
possibly damaging |
Het |
| Vcl |
T |
A |
14: 21,033,470 (GRCm39) |
L142* |
probably null |
Het |
| Vmn2r58 |
T |
C |
7: 41,513,611 (GRCm39) |
Y344C |
probably damaging |
Het |
| Vmn2r-ps117 |
A |
G |
17: 19,044,909 (GRCm39) |
D442G |
probably benign |
Het |
| Xpo6 |
A |
T |
7: 125,739,561 (GRCm39) |
|
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 |
|
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 |
|
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'- ATGAGCACAAAGTAGTGACTGTC -3'
(R):5'- AGACTGCAGCATGTTTGGGG -3'
Sequencing Primer
(F):5'- TTCCTACTGAGAAAGGTGCAGACTC -3'
(R):5'- GCATTTGACTTACAGGTTCAGTGACC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation