Incidental Mutation 'R2845:Arhgap25'
| ID |
251516 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap25
|
| Ensembl Gene |
ENSMUSG00000030047 |
| Gene Name |
Rho GTPase activating protein 25 |
| Synonyms |
A130039I20Rik |
| MMRRC Submission |
040438-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2845 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
87435527-87510241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 87436949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 634
(E634K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071024]
[ENSMUST00000101197]
[ENSMUST00000113637]
|
| AlphaFold |
Q8BYW1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071024
AA Change: E545K
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000068964
Gene: ENSMUSG00000030047
AA Change: E545K
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1V89|A
|
1 |
63 |
7e-33 |
PDB |
|
Blast:RhoGAP
|
16 |
66 |
9e-22 |
BLAST |
|
RhoGAP
|
86 |
262 |
6.28e-64 |
SMART |
|
coiled coil region
|
454 |
552 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101197
AA Change: E608K
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000098758
Gene: ENSMUSG00000030047
AA Change: E608K
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
127 |
2.11e-21 |
SMART |
|
RhoGAP
|
149 |
325 |
6.28e-64 |
SMART |
|
coiled coil region
|
517 |
615 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113637
AA Change: E634K
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109267
Gene: ENSMUSG00000030047
AA Change: E634K
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
47 |
153 |
2.11e-21 |
SMART |
|
RhoGAP
|
175 |
351 |
6.28e-64 |
SMART |
|
coiled coil region
|
543 |
641 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145128
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203559
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ARHGAPs, such as ARHGAP25, encode negative regulators of Rho GTPases (see ARHA; MIM 165390), which are implicated in actin remodeling, cell polarity, and cell migration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered leukocyte transendothelial migration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Cep152 |
A |
G |
2: 125,429,894 (GRCm39) |
I676T |
probably damaging |
Het |
| Cherp |
C |
A |
8: 73,220,247 (GRCm39) |
A449S |
probably damaging |
Het |
| Col19a1 |
C |
T |
1: 24,598,762 (GRCm39) |
G77E |
unknown |
Het |
| Cplane1 |
G |
A |
15: 8,245,864 (GRCm39) |
R1412H |
probably damaging |
Het |
| Csnk1g2 |
A |
G |
10: 80,474,438 (GRCm39) |
S220G |
probably damaging |
Het |
| Efcab7 |
T |
A |
4: 99,766,835 (GRCm39) |
V20D |
probably damaging |
Het |
| Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,339,849 (GRCm39) |
F714S |
probably damaging |
Het |
| Gpx6 |
A |
T |
13: 21,503,045 (GRCm39) |
|
probably null |
Het |
| Hsd3b1 |
T |
C |
3: 98,760,094 (GRCm39) |
E299G |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
| Mrgpra2a |
T |
A |
7: 47,076,878 (GRCm39) |
M127L |
probably benign |
Het |
| Or10al3 |
T |
C |
17: 38,011,714 (GRCm39) |
I51T |
probably damaging |
Het |
| Pign |
C |
A |
1: 105,585,521 (GRCm39) |
L9F |
possibly damaging |
Het |
| Plekha1 |
G |
T |
7: 130,510,095 (GRCm39) |
W280C |
probably damaging |
Het |
| Plekhh3 |
T |
C |
11: 101,061,056 (GRCm39) |
|
probably benign |
Het |
| Pramel22 |
G |
A |
4: 143,380,868 (GRCm39) |
S385F |
probably damaging |
Het |
| Psmd13 |
C |
A |
7: 140,477,653 (GRCm39) |
|
probably benign |
Het |
| Ptpru |
T |
A |
4: 131,546,972 (GRCm39) |
I168F |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,187,421 (GRCm39) |
|
probably null |
Het |
| Skint10 |
T |
C |
4: 112,573,023 (GRCm39) |
S258G |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Ssh3 |
T |
C |
19: 4,315,324 (GRCm39) |
Y338C |
probably damaging |
Het |
| Tas2r138 |
T |
C |
6: 40,589,701 (GRCm39) |
S182G |
probably benign |
Het |
| Tgfbr3l |
A |
G |
8: 4,299,280 (GRCm39) |
D49G |
probably damaging |
Het |
| Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
| Zfp24 |
G |
T |
18: 24,150,885 (GRCm39) |
T87K |
probably damaging |
Het |
| Zfp407 |
G |
T |
18: 84,576,522 (GRCm39) |
C1530* |
probably null |
Het |
|
| Other mutations in Arhgap25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01454:Arhgap25
|
APN |
6 |
87,473,058 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02112:Arhgap25
|
APN |
6 |
87,444,919 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03051:Arhgap25
|
APN |
6 |
87,472,896 (GRCm39) |
missense |
probably null |
1.00 |
|
R0462:Arhgap25
|
UTSW |
6 |
87,436,942 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1636:Arhgap25
|
UTSW |
6 |
87,472,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1777:Arhgap25
|
UTSW |
6 |
87,440,289 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2077:Arhgap25
|
UTSW |
6 |
87,436,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4091:Arhgap25
|
UTSW |
6 |
87,440,017 (GRCm39) |
missense |
probably benign |
|
|
R4435:Arhgap25
|
UTSW |
6 |
87,439,920 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4773:Arhgap25
|
UTSW |
6 |
87,473,053 (GRCm39) |
missense |
probably benign |
|
|
R5121:Arhgap25
|
UTSW |
6 |
87,509,846 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5169:Arhgap25
|
UTSW |
6 |
87,440,252 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5334:Arhgap25
|
UTSW |
6 |
87,440,243 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5726:Arhgap25
|
UTSW |
6 |
87,440,441 (GRCm39) |
missense |
probably benign |
|
|
R6696:Arhgap25
|
UTSW |
6 |
87,443,545 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6696:Arhgap25
|
UTSW |
6 |
87,442,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7947:Arhgap25
|
UTSW |
6 |
87,440,069 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8113:Arhgap25
|
UTSW |
6 |
87,465,287 (GRCm39) |
nonsense |
probably null |
|
|
R9110:Arhgap25
|
UTSW |
6 |
87,453,254 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9500:Arhgap25
|
UTSW |
6 |
87,469,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9591:Arhgap25
|
UTSW |
6 |
87,440,102 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Arhgap25
|
UTSW |
6 |
87,453,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACGCAATCCTTGGAGCAC -3'
(R):5'- TTCCTTGCAGCCTGGAGAAG -3'
Sequencing Primer
(F):5'- ATCCTTGGAGCACAGCACAGG -3'
(R):5'- GGAAAATTACGATGTCTGGGC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation