Incidental Mutation 'R4532:Arhgap42'
| ID |
333154 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap42
|
| Ensembl Gene |
ENSMUSG00000050730 |
| Gene Name |
Rho GTPase activating protein 42 |
| Synonyms |
9030420J04Rik |
| MMRRC Submission |
041772-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.916)
|
| Stock # |
R4532 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
8994330-9239106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9011433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 451
(D451G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091419
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093893]
|
| AlphaFold |
B2RQE8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093893
AA Change: D451G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091419
Gene: ENSMUSG00000050730
AA Change: D451G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAR_3
|
6 |
132 |
4.4e-36 |
PFAM |
|
Pfam:BAR_3
|
125 |
215 |
8.9e-29 |
PFAM |
|
PH
|
232 |
342 |
5.5e-8 |
SMART |
|
RhoGAP
|
358 |
535 |
1.4e-55 |
SMART |
|
low complexity region
|
583 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
616 |
N/A |
INTRINSIC |
|
Blast:RhoGAP
|
617 |
691 |
2e-37 |
BLAST |
|
low complexity region
|
692 |
711 |
N/A |
INTRINSIC |
|
SH3
|
786 |
840 |
7.4e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182617
|
| Meta Mutation Damage Score |
0.3207 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
100% (54/54) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit hypertension and increased vascular smooth muscle contractility. [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 |
|---|
| Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,955,101 (GRCm39) |
E647G |
possibly damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,702,243 (GRCm39) |
K1099E |
unknown |
Het |
| Cd19 |
C |
T |
7: 126,011,281 (GRCm39) |
C301Y |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,370,202 (GRCm39) |
T198A |
probably benign |
Het |
| Cdt1 |
T |
C |
8: 123,298,495 (GRCm39) |
S407P |
probably benign |
Het |
| Cyp26c1 |
A |
G |
19: 37,674,227 (GRCm39) |
T34A |
probably damaging |
Het |
| Dbh |
C |
A |
2: 27,067,343 (GRCm39) |
H409Q |
possibly damaging |
Het |
| Eif5 |
T |
A |
12: 111,506,318 (GRCm39) |
C52* |
probably null |
Het |
| Fhod3 |
A |
G |
18: 25,243,278 (GRCm39) |
Y1212C |
probably damaging |
Het |
| Ggh |
T |
A |
4: 20,046,225 (GRCm39) |
F44L |
probably benign |
Het |
| Gm12185 |
T |
C |
11: 48,798,747 (GRCm39) |
Y582C |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,921 (GRCm39) |
N524S |
possibly damaging |
Het |
| Gm21095 |
A |
G |
Y: 84,131,953 (GRCm39) |
N149S |
probably damaging |
Het |
| Gys2 |
T |
A |
6: 142,400,867 (GRCm39) |
H311L |
probably damaging |
Het |
| Hcn4 |
C |
T |
9: 58,765,081 (GRCm39) |
R558C |
unknown |
Het |
| Heatr6 |
T |
C |
11: 83,660,498 (GRCm39) |
L546P |
probably damaging |
Het |
| Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
| Lpin1 |
C |
T |
12: 16,603,963 (GRCm39) |
G623S |
probably benign |
Het |
| Lrfn2 |
A |
G |
17: 49,377,564 (GRCm39) |
D215G |
probably damaging |
Het |
| Lrrc3c |
C |
A |
11: 98,489,859 (GRCm39) |
S72* |
probably null |
Het |
| Me3 |
G |
A |
7: 89,282,108 (GRCm39) |
|
probably benign |
Het |
| Msln |
A |
G |
17: 25,969,698 (GRCm39) |
I344T |
probably damaging |
Het |
| Oma1 |
G |
A |
4: 103,176,571 (GRCm39) |
V112I |
probably benign |
Het |
| Or5al6 |
A |
T |
2: 85,976,274 (GRCm39) |
L268Q |
possibly damaging |
Het |
| Or5p4 |
T |
C |
7: 107,680,756 (GRCm39) |
Y252H |
probably benign |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pdgfra |
A |
G |
5: 75,341,744 (GRCm39) |
N659S |
probably damaging |
Het |
| Rmnd5a |
A |
T |
6: 71,376,109 (GRCm39) |
|
probably null |
Het |
| Slc12a8 |
C |
A |
16: 33,371,403 (GRCm39) |
R180S |
probably damaging |
Het |
| Slc6a15 |
G |
A |
10: 103,245,648 (GRCm39) |
V544M |
possibly damaging |
Het |
| Slco5a1 |
T |
A |
1: 12,949,447 (GRCm39) |
T648S |
probably damaging |
Het |
| Snx13 |
T |
C |
12: 35,194,219 (GRCm39) |
F921L |
probably damaging |
Het |
| Stard6 |
A |
C |
18: 70,616,605 (GRCm39) |
D88A |
probably damaging |
Het |
| Svep1 |
G |
T |
4: 58,068,886 (GRCm39) |
H2967N |
possibly damaging |
Het |
| Tcaf2 |
A |
C |
6: 42,603,371 (GRCm39) |
Y730D |
probably damaging |
Het |
| Tes |
G |
A |
6: 17,097,407 (GRCm39) |
V172M |
possibly damaging |
Het |
| Ttc3 |
T |
A |
16: 94,267,736 (GRCm39) |
|
probably benign |
Het |
| Vmn1r23 |
A |
G |
6: 57,902,914 (GRCm39) |
I288T |
probably benign |
Het |
| Vmn1r38 |
G |
T |
6: 66,754,016 (GRCm39) |
H33Q |
probably benign |
Het |
| Vmn2r75 |
G |
T |
7: 85,797,349 (GRCm39) |
C821* |
probably null |
Het |
| Zfp282 |
C |
T |
6: 47,867,567 (GRCm39) |
P248S |
probably benign |
Het |
| Zfp655 |
T |
A |
5: 145,181,507 (GRCm39) |
I455N |
probably benign |
Het |
|
| Other mutations in Arhgap42 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00476:Arhgap42
|
APN |
9 |
9,006,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00576:Arhgap42
|
APN |
9 |
8,997,621 (GRCm39) |
nonsense |
probably null |
|
|
IGL01693:Arhgap42
|
APN |
9 |
9,006,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01724:Arhgap42
|
APN |
9 |
8,998,254 (GRCm39) |
splice site |
probably benign |
|
|
IGL02142:Arhgap42
|
APN |
9 |
9,155,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02378:Arhgap42
|
APN |
9 |
9,035,584 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02932:Arhgap42
|
APN |
9 |
9,115,709 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02992:Arhgap42
|
APN |
9 |
8,998,249 (GRCm39) |
splice site |
probably benign |
|
|
IGL03149:Arhgap42
|
APN |
9 |
9,008,085 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0096:Arhgap42
|
UTSW |
9 |
9,009,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0096:Arhgap42
|
UTSW |
9 |
9,009,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0417:Arhgap42
|
UTSW |
9 |
9,180,034 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0513:Arhgap42
|
UTSW |
9 |
9,005,766 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1212:Arhgap42
|
UTSW |
9 |
9,015,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1493:Arhgap42
|
UTSW |
9 |
9,030,798 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1499:Arhgap42
|
UTSW |
9 |
9,033,587 (GRCm39) |
splice site |
probably benign |
|
|
R1674:Arhgap42
|
UTSW |
9 |
9,006,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1687:Arhgap42
|
UTSW |
9 |
9,035,538 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1808:Arhgap42
|
UTSW |
9 |
9,180,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1983:Arhgap42
|
UTSW |
9 |
9,017,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Arhgap42
|
UTSW |
9 |
9,035,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2276:Arhgap42
|
UTSW |
9 |
9,035,512 (GRCm39) |
missense |
probably benign |
|
|
R2279:Arhgap42
|
UTSW |
9 |
9,035,512 (GRCm39) |
missense |
probably benign |
|
|
R2295:Arhgap42
|
UTSW |
9 |
9,115,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3807:Arhgap42
|
UTSW |
9 |
9,008,034 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4133:Arhgap42
|
UTSW |
9 |
9,011,300 (GRCm39) |
intron |
probably benign |
|
|
R4304:Arhgap42
|
UTSW |
9 |
9,006,489 (GRCm39) |
missense |
probably benign |
|
|
R4530:Arhgap42
|
UTSW |
9 |
9,011,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4786:Arhgap42
|
UTSW |
9 |
9,238,703 (GRCm39) |
nonsense |
probably null |
|
|
R4807:Arhgap42
|
UTSW |
9 |
9,046,629 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4809:Arhgap42
|
UTSW |
9 |
9,180,118 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4999:Arhgap42
|
UTSW |
9 |
9,009,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5160:Arhgap42
|
UTSW |
9 |
8,997,656 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5737:Arhgap42
|
UTSW |
9 |
9,059,069 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5840:Arhgap42
|
UTSW |
9 |
9,046,518 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6172:Arhgap42
|
UTSW |
9 |
9,148,246 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6456:Arhgap42
|
UTSW |
9 |
9,005,823 (GRCm39) |
missense |
probably benign |
|
|
R6782:Arhgap42
|
UTSW |
9 |
9,115,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6846:Arhgap42
|
UTSW |
9 |
9,006,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7489:Arhgap42
|
UTSW |
9 |
9,006,359 (GRCm39) |
missense |
probably benign |
|
|
R7560:Arhgap42
|
UTSW |
9 |
9,035,532 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8025:Arhgap42
|
UTSW |
9 |
9,005,823 (GRCm39) |
missense |
probably benign |
|
|
R8113:Arhgap42
|
UTSW |
9 |
9,011,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8303:Arhgap42
|
UTSW |
9 |
9,009,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8357:Arhgap42
|
UTSW |
9 |
9,016,221 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8457:Arhgap42
|
UTSW |
9 |
9,016,221 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9131:Arhgap42
|
UTSW |
9 |
9,011,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9132:Arhgap42
|
UTSW |
9 |
9,011,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9266:Arhgap42
|
UTSW |
9 |
9,006,386 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9570:Arhgap42
|
UTSW |
9 |
9,148,209 (GRCm39) |
missense |
|
|
|
R9780:Arhgap42
|
UTSW |
9 |
9,059,102 (GRCm39) |
missense |
probably benign |
0.36 |
|
X0066:Arhgap42
|
UTSW |
9 |
9,115,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Arhgap42
|
UTSW |
9 |
9,115,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGAACTTGTTGACCTCAGTC -3'
(R):5'- TTAAGGCTCGAATGGCAGGAC -3'
Sequencing Primer
(F):5'- TTCTAAAGCTCACTCAAGGGAG -3'
(R):5'- TTCGAGACAGGGTTTCTCTGTATAAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation