Incidental Mutation 'R4497:Arhgap12'
| ID |
331046 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap12
|
| Ensembl Gene |
ENSMUSG00000041225 |
| Gene Name |
Rho GTPase activating protein 12 |
| Synonyms |
2810011M08Rik |
| MMRRC Submission |
041750-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4497 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
6024448-6136102 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6111774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 69
(C69S)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062584]
[ENSMUST00000077128]
[ENSMUST00000182038]
[ENSMUST00000182066]
[ENSMUST00000182213]
[ENSMUST00000182383]
[ENSMUST00000182559]
|
| AlphaFold |
Q8C0D4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062584
AA Change: C197S
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000054209
Gene: ENSMUSG00000041225
AA Change: C197S
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
13 |
71 |
1.53e-3 |
SMART |
|
low complexity region
|
208 |
224 |
N/A |
INTRINSIC |
|
WW
|
264 |
296 |
3.39e-6 |
SMART |
|
WW
|
356 |
388 |
1.06e1 |
SMART |
|
PH
|
456 |
569 |
9.56e-11 |
SMART |
|
low complexity region
|
571 |
580 |
N/A |
INTRINSIC |
|
low complexity region
|
588 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
627 |
N/A |
INTRINSIC |
|
RhoGAP
|
659 |
833 |
5.47e-64 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077128
AA Change: C197S
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000076376
Gene: ENSMUSG00000041225
AA Change: C197S
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
13 |
71 |
1.53e-3 |
SMART |
|
low complexity region
|
208 |
224 |
N/A |
INTRINSIC |
|
WW
|
264 |
296 |
3.39e-6 |
SMART |
|
WW
|
356 |
388 |
1.06e1 |
SMART |
|
PH
|
431 |
544 |
9.56e-11 |
SMART |
|
low complexity region
|
546 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
563 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
602 |
N/A |
INTRINSIC |
|
RhoGAP
|
634 |
808 |
5.47e-64 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181989
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182038
AA Change: C197S
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000138150
Gene: ENSMUSG00000041225
AA Change: C197S
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
13 |
71 |
1.53e-3 |
SMART |
|
low complexity region
|
208 |
224 |
N/A |
INTRINSIC |
|
WW
|
264 |
296 |
3.39e-6 |
SMART |
|
WW
|
356 |
388 |
1.06e1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182066
AA Change: C197S
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138496
Gene: ENSMUSG00000041225
AA Change: C197S
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
13 |
71 |
1.53e-3 |
SMART |
|
low complexity region
|
208 |
224 |
N/A |
INTRINSIC |
|
WW
|
264 |
296 |
3.39e-6 |
SMART |
|
WW
|
309 |
341 |
5.5e0 |
SMART |
|
PH
|
409 |
522 |
9.56e-11 |
SMART |
|
low complexity region
|
524 |
533 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
580 |
N/A |
INTRINSIC |
|
RhoGAP
|
612 |
786 |
5.47e-64 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182178
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182213
AA Change: C197S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000138464
Gene: ENSMUSG00000041225
AA Change: C197S
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
13 |
71 |
1.53e-3 |
SMART |
|
low complexity region
|
208 |
224 |
N/A |
INTRINSIC |
|
WW
|
264 |
296 |
3.39e-6 |
SMART |
|
WW
|
356 |
388 |
1.06e1 |
SMART |
|
PH
|
461 |
574 |
9.56e-11 |
SMART |
|
low complexity region
|
576 |
585 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
607 |
N/A |
INTRINSIC |
|
low complexity region
|
621 |
632 |
N/A |
INTRINSIC |
|
RhoGAP
|
664 |
838 |
5.47e-64 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182383
AA Change: C197S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000138444
Gene: ENSMUSG00000041225
AA Change: C197S
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
13 |
71 |
1.53e-3 |
SMART |
|
low complexity region
|
208 |
224 |
N/A |
INTRINSIC |
|
WW
|
264 |
296 |
3.39e-6 |
SMART |
|
WW
|
309 |
341 |
5.5e0 |
SMART |
|
PH
|
384 |
497 |
9.56e-11 |
SMART |
|
low complexity region
|
499 |
508 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
530 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
555 |
N/A |
INTRINSIC |
|
RhoGAP
|
587 |
761 |
5.47e-64 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182559
AA Change: C197S
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138585
Gene: ENSMUSG00000041225
AA Change: C197S
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
13 |
71 |
1.53e-3 |
SMART |
|
low complexity region
|
208 |
224 |
N/A |
INTRINSIC |
|
WW
|
264 |
296 |
3.39e-6 |
SMART |
|
WW
|
356 |
388 |
1.06e1 |
SMART |
|
PH
|
456 |
569 |
9.56e-11 |
SMART |
|
low complexity region
|
571 |
580 |
N/A |
INTRINSIC |
|
low complexity region
|
588 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
627 |
N/A |
INTRINSIC |
|
RhoGAP
|
659 |
833 |
5.47e-64 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182921
AA Change: C69S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182614
|
| Meta Mutation Damage Score |
0.0629 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: A null gene trap mutation resulted in no notable phenotype in homozygous mutant mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco2 |
G |
A |
15: 81,779,486 (GRCm39) |
A97T |
probably damaging |
Het |
| Adat1 |
T |
C |
8: 112,705,994 (GRCm39) |
S371G |
probably benign |
Het |
| Aoc3 |
T |
G |
11: 101,222,871 (GRCm39) |
I369R |
possibly damaging |
Het |
| Apobr |
A |
T |
7: 126,186,694 (GRCm39) |
|
probably null |
Het |
| Astn2 |
A |
G |
4: 66,037,300 (GRCm39) |
|
probably benign |
Het |
| Bcas1 |
T |
C |
2: 170,248,741 (GRCm39) |
D60G |
probably damaging |
Het |
| Cacnb4 |
T |
A |
2: 52,367,783 (GRCm39) |
D62V |
probably damaging |
Het |
| Cbx8 |
C |
A |
11: 118,931,618 (GRCm39) |
R20L |
probably damaging |
Het |
| Ccdc92 |
G |
A |
5: 124,913,337 (GRCm39) |
T64M |
probably benign |
Het |
| Cps1 |
G |
T |
1: 67,244,358 (GRCm39) |
S1135I |
probably null |
Het |
| Eml2 |
G |
A |
7: 18,913,275 (GRCm39) |
R91H |
probably damaging |
Het |
| Fbxl3 |
G |
A |
14: 103,320,313 (GRCm39) |
P426L |
probably damaging |
Het |
| Fhod3 |
T |
A |
18: 25,243,296 (GRCm39) |
|
probably null |
Het |
| Gabrb2 |
T |
C |
11: 42,488,521 (GRCm39) |
I329T |
probably benign |
Het |
| Gli3 |
T |
A |
13: 15,898,156 (GRCm39) |
D745E |
possibly damaging |
Het |
| Itprid2 |
T |
A |
2: 79,488,164 (GRCm39) |
V749E |
probably damaging |
Het |
| Lacc1 |
T |
A |
14: 77,271,470 (GRCm39) |
N239I |
probably damaging |
Het |
| Lamb2 |
T |
A |
9: 108,363,997 (GRCm39) |
C1008S |
probably damaging |
Het |
| Man2b1 |
G |
A |
8: 85,817,565 (GRCm39) |
V349I |
probably benign |
Het |
| Mib1 |
A |
G |
18: 10,811,985 (GRCm39) |
T961A |
possibly damaging |
Het |
| Mmp24 |
A |
G |
2: 155,655,908 (GRCm39) |
I449V |
possibly damaging |
Het |
| Myo7b |
A |
G |
18: 32,147,282 (GRCm39) |
I87T |
probably benign |
Het |
| Or13c7b |
A |
G |
4: 43,821,175 (GRCm39) |
F62S |
probably damaging |
Het |
| Or5p72 |
T |
A |
7: 108,022,122 (GRCm39) |
C115S |
probably benign |
Het |
| Pgr |
A |
G |
9: 8,958,420 (GRCm39) |
E809G |
probably damaging |
Het |
| Ppp1r3g |
T |
A |
13: 36,153,603 (GRCm39) |
V341E |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,518,517 (GRCm39) |
S1091T |
probably benign |
Het |
| Rab44 |
G |
A |
17: 29,358,871 (GRCm39) |
R353K |
probably benign |
Het |
| Reck |
G |
A |
4: 43,891,001 (GRCm39) |
M46I |
probably benign |
Het |
| Rorb |
G |
T |
19: 18,954,992 (GRCm39) |
S208Y |
possibly damaging |
Het |
| Serinc2 |
G |
T |
4: 130,147,847 (GRCm39) |
T410N |
possibly damaging |
Het |
| Slc23a2 |
G |
A |
2: 131,898,702 (GRCm39) |
R612* |
probably null |
Het |
| Slx4 |
T |
C |
16: 3,812,773 (GRCm39) |
E145G |
probably damaging |
Het |
| Spag16 |
A |
G |
1: 70,532,989 (GRCm39) |
D556G |
probably damaging |
Het |
| Spopl |
C |
T |
2: 23,407,957 (GRCm39) |
V241M |
probably damaging |
Het |
| Tmf1 |
A |
T |
6: 97,149,293 (GRCm39) |
F485I |
probably benign |
Het |
| Trmo |
C |
T |
4: 46,382,140 (GRCm39) |
V326M |
probably damaging |
Het |
| Tssk5 |
T |
C |
15: 76,256,411 (GRCm39) |
D336G |
probably damaging |
Het |
| Ttyh2 |
A |
T |
11: 114,601,789 (GRCm39) |
Q471L |
possibly damaging |
Het |
| Wdr33 |
A |
C |
18: 32,026,132 (GRCm39) |
Q944H |
unknown |
Het |
| Wdr55 |
G |
A |
18: 36,893,448 (GRCm39) |
V37M |
possibly damaging |
Het |
| Zbtb18 |
A |
T |
1: 177,274,687 (GRCm39) |
S7C |
probably damaging |
Het |
| Zfhx4 |
G |
A |
3: 5,464,680 (GRCm39) |
V1638M |
possibly damaging |
Het |
| Zfp81 |
A |
T |
17: 33,553,677 (GRCm39) |
I379N |
possibly damaging |
Het |
|
| Other mutations in Arhgap12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01468:Arhgap12
|
APN |
18 |
6,057,576 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01652:Arhgap12
|
APN |
18 |
6,061,853 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01886:Arhgap12
|
APN |
18 |
6,027,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02716:Arhgap12
|
APN |
18 |
6,111,857 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03195:Arhgap12
|
APN |
18 |
6,031,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
eelier
|
UTSW |
18 |
6,061,930 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
eerie
|
UTSW |
18 |
6,111,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03134:Arhgap12
|
UTSW |
18 |
6,111,936 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0312:Arhgap12
|
UTSW |
18 |
6,061,982 (GRCm39) |
intron |
probably benign |
|
|
R0330:Arhgap12
|
UTSW |
18 |
6,039,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0600:Arhgap12
|
UTSW |
18 |
6,064,433 (GRCm39) |
intron |
probably benign |
|
|
R0891:Arhgap12
|
UTSW |
18 |
6,026,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1123:Arhgap12
|
UTSW |
18 |
6,031,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1395:Arhgap12
|
UTSW |
18 |
6,037,058 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1644:Arhgap12
|
UTSW |
18 |
6,112,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2968:Arhgap12
|
UTSW |
18 |
6,111,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2970:Arhgap12
|
UTSW |
18 |
6,111,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3809:Arhgap12
|
UTSW |
18 |
6,037,057 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3824:Arhgap12
|
UTSW |
18 |
6,061,930 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4181:Arhgap12
|
UTSW |
18 |
6,111,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4182:Arhgap12
|
UTSW |
18 |
6,111,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4183:Arhgap12
|
UTSW |
18 |
6,111,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4498:Arhgap12
|
UTSW |
18 |
6,111,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5456:Arhgap12
|
UTSW |
18 |
6,112,170 (GRCm39) |
nonsense |
probably null |
|
|
R5539:Arhgap12
|
UTSW |
18 |
6,111,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5915:Arhgap12
|
UTSW |
18 |
6,037,016 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6859:Arhgap12
|
UTSW |
18 |
6,111,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6960:Arhgap12
|
UTSW |
18 |
6,111,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7114:Arhgap12
|
UTSW |
18 |
6,028,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7285:Arhgap12
|
UTSW |
18 |
6,111,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7359:Arhgap12
|
UTSW |
18 |
6,065,709 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8048:Arhgap12
|
UTSW |
18 |
6,052,883 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8249:Arhgap12
|
UTSW |
18 |
6,027,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8523:Arhgap12
|
UTSW |
18 |
6,111,976 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9110:Arhgap12
|
UTSW |
18 |
6,034,539 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9444:Arhgap12
|
UTSW |
18 |
6,052,909 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGCTCTTTAAATCAGGATCG -3'
(R):5'- ATTCAGGCCAGACTCTCAAC -3'
Sequencing Primer
(F):5'- AAATCAGGATCGACTCTGTGTGTTCC -3'
(R):5'- TCTCAACCTAAGCCTGGACCTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation