Incidental Mutation 'R3824:Arhgap12'
ID |
275309 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap12
|
Ensembl Gene |
ENSMUSG00000041225 |
Gene Name |
Rho GTPase activating protein 12 |
Synonyms |
2810011M08Rik |
MMRRC Submission |
040885-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3824 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
6024448-6136102 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 6061930 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 402
(R402G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138585
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062584]
[ENSMUST00000077128]
[ENSMUST00000182038]
[ENSMUST00000182066]
[ENSMUST00000182383]
[ENSMUST00000182213]
[ENSMUST00000182559]
|
AlphaFold |
Q8C0D4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062584
AA Change: R355G
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000054209 Gene: ENSMUSG00000041225 AA Change: R355G
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: R402G
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000076376 Gene: ENSMUSG00000041225 AA Change: R402G
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 benign
Transcript: ENSMUST00000182038
|
SMART Domains |
Protein: ENSMUSP00000138150 Gene: ENSMUSG00000041225
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: R355G
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138496 Gene: ENSMUSG00000041225 AA Change: R355G
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: ENSMUST00000182101
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182383
AA Change: R355G
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138444 Gene: ENSMUSG00000041225 AA Change: R355G
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: ENSMUST00000182213
AA Change: R402G
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138464 Gene: ENSMUSG00000041225 AA Change: R402G
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 |
noncoding transcript
Transcript: ENSMUST00000182322
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182559
AA Change: R402G
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138585 Gene: ENSMUSG00000041225 AA Change: R402G
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 |
noncoding transcript
Transcript: ENSMUST00000182614
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182178
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182921
|
Meta Mutation Damage Score |
0.1727 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
95% (62/65) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300002M23Rik |
T |
C |
17: 35,878,508 (GRCm39) |
C20R |
probably benign |
Het |
6030468B19Rik |
A |
G |
11: 117,693,739 (GRCm39) |
K69E |
probably damaging |
Het |
9430015G10Rik |
T |
A |
4: 156,203,607 (GRCm39) |
|
probably null |
Het |
A2ml1 |
A |
G |
6: 128,545,726 (GRCm39) |
V467A |
probably damaging |
Het |
Abcc3 |
T |
C |
11: 94,259,446 (GRCm39) |
|
probably null |
Het |
Acad10 |
A |
T |
5: 121,760,881 (GRCm39) |
M941K |
probably benign |
Het |
Agrn |
A |
G |
4: 156,253,759 (GRCm39) |
L1649P |
probably damaging |
Het |
Atp4b |
T |
C |
8: 13,443,549 (GRCm39) |
Y43C |
probably damaging |
Het |
Btn2a2 |
T |
A |
13: 23,664,635 (GRCm39) |
T308S |
probably benign |
Het |
C8b |
G |
T |
4: 104,640,206 (GRCm39) |
A170S |
probably benign |
Het |
Cabyr |
T |
A |
18: 12,884,747 (GRCm39) |
D411E |
probably benign |
Het |
Capn3 |
T |
C |
2: 120,314,964 (GRCm39) |
|
probably benign |
Het |
Cd200r4 |
T |
C |
16: 44,641,313 (GRCm39) |
F19L |
probably benign |
Het |
Cflar |
T |
A |
1: 58,774,856 (GRCm39) |
Y218N |
probably benign |
Het |
Col11a2 |
T |
C |
17: 34,273,154 (GRCm39) |
Y630H |
probably damaging |
Het |
Coq6 |
T |
C |
12: 84,419,189 (GRCm39) |
|
probably benign |
Het |
Drg2 |
A |
G |
11: 60,350,334 (GRCm39) |
T98A |
possibly damaging |
Het |
Fry |
T |
A |
5: 150,419,884 (GRCm39) |
S1015R |
possibly damaging |
Het |
Gjb4 |
A |
G |
4: 127,245,222 (GRCm39) |
S240P |
probably benign |
Het |
Glmp |
G |
A |
3: 88,233,718 (GRCm39) |
V107I |
probably damaging |
Het |
Gls |
A |
C |
1: 52,272,147 (GRCm39) |
M2R |
possibly damaging |
Het |
Igfbp4 |
A |
G |
11: 98,939,061 (GRCm39) |
E27G |
probably damaging |
Het |
Ints8 |
A |
T |
4: 11,225,621 (GRCm39) |
Y645* |
probably null |
Het |
Kat6a |
G |
T |
8: 23,352,380 (GRCm39) |
V55F |
probably damaging |
Het |
Kat8 |
T |
A |
7: 127,523,654 (GRCm39) |
D292E |
possibly damaging |
Het |
Myo19 |
T |
A |
11: 84,776,505 (GRCm39) |
C54S |
probably damaging |
Het |
Myo5b |
C |
T |
18: 74,794,726 (GRCm39) |
H532Y |
probably benign |
Het |
Nckap1 |
T |
C |
2: 80,370,904 (GRCm39) |
K357E |
possibly damaging |
Het |
Ndufaf1 |
C |
T |
2: 119,490,752 (GRCm39) |
V105M |
probably benign |
Het |
Or2o1 |
A |
G |
11: 49,051,620 (GRCm39) |
S260G |
possibly damaging |
Het |
Or8b101 |
A |
T |
9: 38,020,134 (GRCm39) |
I51F |
possibly damaging |
Het |
Or8b1b |
T |
A |
9: 38,375,822 (GRCm39) |
C162S |
probably benign |
Het |
Or8c17 |
T |
G |
9: 38,179,814 (GRCm39) |
S2A |
probably benign |
Het |
Or8k30 |
T |
G |
2: 86,339,367 (GRCm39) |
L188R |
possibly damaging |
Het |
Palld |
T |
C |
8: 62,162,067 (GRCm39) |
D439G |
probably damaging |
Het |
Pcf11 |
T |
C |
7: 92,308,828 (GRCm39) |
|
probably benign |
Het |
Pigo |
A |
T |
4: 43,020,909 (GRCm39) |
W678R |
possibly damaging |
Het |
Pip5kl1 |
A |
T |
2: 32,473,283 (GRCm39) |
|
probably null |
Het |
Plscr3 |
G |
A |
11: 69,740,964 (GRCm39) |
V267M |
probably benign |
Het |
Pramel24 |
A |
T |
4: 143,453,255 (GRCm39) |
H121L |
probably benign |
Het |
Prom2 |
A |
G |
2: 127,377,593 (GRCm39) |
|
probably benign |
Het |
Ptk7 |
A |
G |
17: 46,876,304 (GRCm39) |
I1049T |
probably damaging |
Het |
Ptprb |
A |
T |
10: 116,186,694 (GRCm39) |
I1743F |
probably benign |
Het |
Ptprm |
A |
G |
17: 67,116,570 (GRCm39) |
V894A |
probably benign |
Het |
Rack1 |
A |
G |
11: 48,693,131 (GRCm39) |
T105A |
probably benign |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Sdk1 |
A |
G |
5: 141,921,804 (GRCm39) |
T267A |
probably benign |
Het |
Slco1a7 |
T |
C |
6: 141,700,100 (GRCm39) |
Q144R |
possibly damaging |
Het |
Sorcs3 |
T |
A |
19: 48,711,395 (GRCm39) |
D653E |
probably damaging |
Het |
Spata31e3 |
G |
A |
13: 50,399,548 (GRCm39) |
S926F |
possibly damaging |
Het |
Spata31f3 |
A |
G |
4: 42,873,492 (GRCm39) |
|
probably null |
Het |
St8sia1 |
A |
G |
6: 142,774,751 (GRCm39) |
L276P |
probably damaging |
Het |
Sync |
T |
C |
4: 129,188,156 (GRCm39) |
V396A |
possibly damaging |
Het |
Taok3 |
A |
G |
5: 117,394,002 (GRCm39) |
T592A |
probably benign |
Het |
Tas2r104 |
T |
A |
6: 131,662,002 (GRCm39) |
I236F |
possibly damaging |
Het |
Tas2r107 |
A |
C |
6: 131,636,293 (GRCm39) |
I252S |
probably benign |
Het |
Tmem259 |
T |
C |
10: 79,814,282 (GRCm39) |
N334S |
possibly damaging |
Het |
Tsga10 |
A |
T |
1: 37,873,278 (GRCm39) |
N200K |
possibly damaging |
Het |
Usp24 |
G |
A |
4: 106,236,263 (GRCm39) |
V984I |
probably benign |
Het |
Vmn1r189 |
T |
A |
13: 22,286,382 (GRCm39) |
T152S |
probably benign |
Het |
Vmn1r2 |
A |
T |
4: 3,172,413 (GRCm39) |
T111S |
probably damaging |
Het |
Vmn2r74 |
T |
G |
7: 85,607,466 (GRCm39) |
N86H |
probably damaging |
Het |
Zfp12 |
T |
C |
5: 143,226,077 (GRCm39) |
V72A |
probably benign |
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 |
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 |
R4497:Arhgap12
|
UTSW |
18 |
6,111,774 (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'- CAAGCCAACATTATTTTGTACTTGCTC -3'
(R):5'- CTGCTCAGGAAGAAGGCTGAC -3'
Sequencing Primer
(F):5'- TTCCCAAGCACTTGCCA -3'
(R):5'- CTGACATGAGACAGCTCTTGG -3'
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Posted On |
2015-04-02 |