Incidental Mutation 'R2300:Arhgap24'
| ID |
245301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap24
|
| Ensembl Gene |
ENSMUSG00000057315 |
| Gene Name |
Rho GTPase activating protein 24 |
| Synonyms |
0610025G21Rik |
| MMRRC Submission |
040299-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2300 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
102629257-103045803 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103008291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 71
(I71V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070048
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070000]
[ENSMUST00000073302]
[ENSMUST00000094559]
[ENSMUST00000112852]
[ENSMUST00000112853]
[ENSMUST00000112854]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070000
AA Change: I71V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070048
Gene: ENSMUSG00000057315
AA Change: I71V
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGAP
|
58 |
234 |
7.04e-67 |
SMART |
|
low complexity region
|
476 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
539 |
N/A |
INTRINSIC |
|
coiled coil region
|
558 |
638 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073302
AA Change: I68V
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000073028
Gene: ENSMUSG00000057315
AA Change: I68V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RhoGAP
|
1 |
38 |
5e-16 |
BLAST |
|
RhoGAP
|
55 |
231 |
7.04e-67 |
SMART |
|
low complexity region
|
473 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
536 |
N/A |
INTRINSIC |
|
coiled coil region
|
555 |
635 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094559
AA Change: I161V
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000092138
Gene: ENSMUSG00000057315
AA Change: I161V
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
18 |
125 |
5.35e-23 |
SMART |
|
RhoGAP
|
148 |
324 |
7.04e-67 |
SMART |
|
low complexity region
|
566 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
610 |
629 |
N/A |
INTRINSIC |
|
coiled coil region
|
648 |
728 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112852
AA Change: I68V
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108473
Gene: ENSMUSG00000057315
AA Change: I68V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RhoGAP
|
1 |
38 |
5e-16 |
BLAST |
|
RhoGAP
|
55 |
231 |
7.04e-67 |
SMART |
|
low complexity region
|
473 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
536 |
N/A |
INTRINSIC |
|
coiled coil region
|
555 |
635 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112853
AA Change: I68V
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108474
Gene: ENSMUSG00000057315
AA Change: I68V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RhoGAP
|
1 |
38 |
5e-16 |
BLAST |
|
RhoGAP
|
55 |
231 |
7.04e-67 |
SMART |
|
low complexity region
|
473 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
536 |
N/A |
INTRINSIC |
|
coiled coil region
|
555 |
635 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112854
AA Change: I68V
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108475
Gene: ENSMUSG00000057315
AA Change: I68V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RhoGAP
|
1 |
38 |
5e-16 |
BLAST |
|
RhoGAP
|
55 |
231 |
7.04e-67 |
SMART |
|
low complexity region
|
473 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
536 |
N/A |
INTRINSIC |
|
coiled coil region
|
555 |
635 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130222
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Rho-GTPase activating protein, which is specific for the small GTPase family member Rac. Binding of the encoded protein by filamin A targets it to sites of membrane protrusion, where it antognizes Rac. This results in suppression of lamellae formation and promotion of retraction to regulate cell polarity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
G |
T |
8: 84,656,746 (GRCm39) |
E355* |
probably null |
Het |
| Aldh6a1 |
G |
T |
12: 84,486,303 (GRCm39) |
T205N |
probably damaging |
Het |
| Arid2 |
A |
T |
15: 96,299,887 (GRCm39) |
E1800V |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Cd53 |
T |
C |
3: 106,670,572 (GRCm39) |
T154A |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,855,241 (GRCm39) |
A2157T |
probably benign |
Het |
| Clca4b |
A |
T |
3: 144,622,432 (GRCm39) |
N544K |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,017,525 (GRCm39) |
E444G |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Gabrr1 |
A |
G |
4: 33,152,449 (GRCm39) |
K130E |
probably benign |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,938,235 (GRCm39) |
Y255C |
probably damaging |
Het |
| Kif11 |
A |
G |
19: 37,399,987 (GRCm39) |
T825A |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,963,316 (GRCm39) |
M1296K |
probably benign |
Het |
| Lrp1 |
G |
T |
10: 127,392,784 (GRCm39) |
C2760* |
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nolc1 |
CAG |
CAGAAG |
19: 46,069,798 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
CAG |
CAGTAG |
19: 46,069,807 (GRCm39) |
|
probably benign |
Het |
| Nop16 |
A |
G |
13: 54,733,679 (GRCm39) |
|
probably null |
Het |
| Or2n1 |
T |
A |
17: 38,486,441 (GRCm39) |
Y155* |
probably null |
Het |
| Or5ak22 |
T |
C |
2: 85,230,476 (GRCm39) |
I134V |
probably benign |
Het |
| Ostf1 |
T |
C |
19: 18,558,644 (GRCm39) |
D213G |
probably damaging |
Het |
| Slc28a2 |
C |
T |
2: 122,272,259 (GRCm39) |
Q34* |
probably null |
Het |
| St18 |
A |
G |
1: 6,925,626 (GRCm39) |
D928G |
probably damaging |
Het |
| Stag1 |
T |
C |
9: 100,594,553 (GRCm39) |
V31A |
possibly damaging |
Het |
| Tcl1b1 |
G |
A |
12: 105,130,783 (GRCm39) |
A89T |
probably benign |
Het |
| Tsen54 |
A |
T |
11: 115,712,904 (GRCm39) |
S464C |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,737,792 (GRCm39) |
F4249S |
probably benign |
Het |
| Xdh |
A |
G |
17: 74,198,260 (GRCm39) |
F1209S |
probably damaging |
Het |
| Ylpm1 |
G |
A |
12: 85,107,093 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Arhgap24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Arhgap24
|
APN |
5 |
103,008,265 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01483:Arhgap24
|
APN |
5 |
103,008,243 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02641:Arhgap24
|
APN |
5 |
103,040,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03166:Arhgap24
|
APN |
5 |
103,023,552 (GRCm39) |
splice site |
probably benign |
|
|
bullmarket
|
UTSW |
5 |
103,023,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
buyers
|
UTSW |
5 |
103,045,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
wallstreet
|
UTSW |
5 |
102,700,163 (GRCm39) |
splice site |
probably null |
|
|
BB009:Arhgap24
|
UTSW |
5 |
102,993,835 (GRCm39) |
intron |
probably benign |
|
|
BB019:Arhgap24
|
UTSW |
5 |
102,993,835 (GRCm39) |
intron |
probably benign |
|
|
R0506:Arhgap24
|
UTSW |
5 |
103,023,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0606:Arhgap24
|
UTSW |
5 |
103,045,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1457:Arhgap24
|
UTSW |
5 |
102,811,972 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1491:Arhgap24
|
UTSW |
5 |
103,008,198 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1707:Arhgap24
|
UTSW |
5 |
103,039,953 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2112:Arhgap24
|
UTSW |
5 |
103,040,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2516:Arhgap24
|
UTSW |
5 |
103,039,776 (GRCm39) |
missense |
probably benign |
|
|
R3803:Arhgap24
|
UTSW |
5 |
103,040,308 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4257:Arhgap24
|
UTSW |
5 |
102,811,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4761:Arhgap24
|
UTSW |
5 |
102,812,080 (GRCm39) |
intron |
probably benign |
|
|
R5045:Arhgap24
|
UTSW |
5 |
103,039,743 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5121:Arhgap24
|
UTSW |
5 |
102,989,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5209:Arhgap24
|
UTSW |
5 |
103,040,015 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5667:Arhgap24
|
UTSW |
5 |
102,994,037 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5914:Arhgap24
|
UTSW |
5 |
102,700,025 (GRCm39) |
splice site |
probably null |
|
|
R6039:Arhgap24
|
UTSW |
5 |
103,028,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6039:Arhgap24
|
UTSW |
5 |
103,028,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6158:Arhgap24
|
UTSW |
5 |
103,040,778 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6410:Arhgap24
|
UTSW |
5 |
103,040,017 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6450:Arhgap24
|
UTSW |
5 |
103,044,990 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6520:Arhgap24
|
UTSW |
5 |
103,028,659 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6666:Arhgap24
|
UTSW |
5 |
102,700,163 (GRCm39) |
splice site |
probably null |
|
|
R7233:Arhgap24
|
UTSW |
5 |
103,026,367 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7311:Arhgap24
|
UTSW |
5 |
103,040,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7460:Arhgap24
|
UTSW |
5 |
103,040,212 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7483:Arhgap24
|
UTSW |
5 |
102,989,174 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7515:Arhgap24
|
UTSW |
5 |
102,993,882 (GRCm39) |
intron |
probably benign |
|
|
R7667:Arhgap24
|
UTSW |
5 |
103,026,323 (GRCm39) |
missense |
probably benign |
|
|
R7932:Arhgap24
|
UTSW |
5 |
102,993,835 (GRCm39) |
intron |
probably benign |
|
|
R8227:Arhgap24
|
UTSW |
5 |
103,023,647 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8289:Arhgap24
|
UTSW |
5 |
103,028,692 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8431:Arhgap24
|
UTSW |
5 |
103,040,464 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8721:Arhgap24
|
UTSW |
5 |
103,023,565 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8767:Arhgap24
|
UTSW |
5 |
103,039,740 (GRCm39) |
missense |
probably benign |
|
|
R8954:Arhgap24
|
UTSW |
5 |
103,040,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9120:Arhgap24
|
UTSW |
5 |
103,040,016 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9306:Arhgap24
|
UTSW |
5 |
102,994,008 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9687:Arhgap24
|
UTSW |
5 |
102,994,022 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Arhgap24
|
UTSW |
5 |
103,028,673 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Arhgap24
|
UTSW |
5 |
103,023,625 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCGGGACCTTTACAATGAG -3'
(R):5'- GCATATCTACCACATCAGTCATCAG -3'
Sequencing Primer
(F):5'- TACAATGAGTTTGAAAAGAAAACAGC -3'
(R):5'- GTCATCAGACAGCCCACGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation