Incidental Mutation 'R1493:Arhgap42'
| ID |
165557 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap42
|
| Ensembl Gene |
ENSMUSG00000050730 |
| Gene Name |
Rho GTPase activating protein 42 |
| Synonyms |
9030420J04Rik |
| MMRRC Submission |
039544-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.916)
|
| Stock # |
R1493 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
8994330-9239106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 9030798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 339
(E339D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091419
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093893]
|
| AlphaFold |
B2RQE8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093893
AA Change: E339D
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000091419
Gene: ENSMUSG00000050730
AA Change: E339D
| 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
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.9%
|
| Validation Efficiency |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
C |
11: 58,767,544 (GRCm39) |
S14P |
probably damaging |
Het |
| Abca15 |
A |
T |
7: 119,981,513 (GRCm39) |
D989V |
probably benign |
Het |
| Abcg8 |
T |
C |
17: 85,004,107 (GRCm39) |
S472P |
probably damaging |
Het |
| Ablim2 |
T |
C |
5: 35,966,605 (GRCm39) |
F178S |
probably damaging |
Het |
| Adprm |
A |
G |
11: 66,932,702 (GRCm39) |
V69A |
possibly damaging |
Het |
| Ankrd27 |
C |
T |
7: 35,307,790 (GRCm39) |
S343L |
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,506,627 (GRCm39) |
S833P |
probably damaging |
Het |
| Axdnd1 |
T |
A |
1: 156,174,271 (GRCm39) |
M799L |
probably benign |
Het |
| Cars2 |
A |
T |
8: 11,567,817 (GRCm39) |
|
probably null |
Het |
| Cd7 |
T |
C |
11: 120,928,967 (GRCm39) |
T95A |
probably damaging |
Het |
| Cep290 |
A |
T |
10: 100,398,043 (GRCm39) |
T2200S |
probably benign |
Het |
| Cep44 |
A |
G |
8: 56,985,870 (GRCm39) |
S299P |
probably damaging |
Het |
| Cfap58 |
C |
T |
19: 47,976,943 (GRCm39) |
H731Y |
probably damaging |
Het |
| Ehbp1 |
T |
A |
11: 21,956,866 (GRCm39) |
E1204V |
probably damaging |
Het |
| Fgd5 |
A |
G |
6: 91,964,612 (GRCm39) |
K124E |
probably benign |
Het |
| Folh1 |
T |
C |
7: 86,410,938 (GRCm39) |
D268G |
probably damaging |
Het |
| Gm4559 |
A |
T |
7: 141,828,050 (GRCm39) |
C17* |
probably null |
Het |
| Helz |
A |
G |
11: 107,504,751 (GRCm39) |
I413V |
probably benign |
Het |
| Hexd |
A |
G |
11: 121,112,093 (GRCm39) |
I438V |
probably benign |
Het |
| Hrh1 |
G |
A |
6: 114,457,838 (GRCm39) |
G373D |
probably damaging |
Het |
| Hs3st5 |
G |
A |
10: 36,708,870 (GRCm39) |
G135D |
probably damaging |
Het |
| Iqcf6 |
T |
C |
9: 106,504,641 (GRCm39) |
Y102H |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,758,202 (GRCm39) |
S1124R |
probably damaging |
Het |
| Map3k5 |
A |
G |
10: 19,904,859 (GRCm39) |
D387G |
probably damaging |
Het |
| Morc2a |
A |
G |
11: 3,628,557 (GRCm39) |
N337D |
probably benign |
Het |
| Musk |
C |
T |
4: 58,354,003 (GRCm39) |
A352V |
probably benign |
Het |
| Myef2l |
A |
G |
3: 10,153,944 (GRCm39) |
K238E |
probably damaging |
Het |
| Nans |
G |
A |
4: 46,500,761 (GRCm39) |
E218K |
probably damaging |
Het |
| Niban1 |
T |
A |
1: 151,581,841 (GRCm39) |
V479D |
probably damaging |
Het |
| Ninl |
T |
G |
2: 150,822,015 (GRCm39) |
D29A |
probably damaging |
Het |
| Nod1 |
A |
G |
6: 54,921,041 (GRCm39) |
F426L |
probably damaging |
Het |
| Notch4 |
T |
A |
17: 34,786,656 (GRCm39) |
C265* |
probably null |
Het |
| Nsd3 |
A |
G |
8: 26,203,407 (GRCm39) |
D1307G |
probably benign |
Het |
| Or51h1 |
T |
C |
7: 102,308,220 (GRCm39) |
L64P |
probably damaging |
Het |
| Or52e18 |
T |
A |
7: 104,609,709 (GRCm39) |
T77S |
probably damaging |
Het |
| Orai3 |
G |
A |
7: 127,373,077 (GRCm39) |
V193M |
possibly damaging |
Het |
| Prkag1 |
T |
C |
15: 98,711,551 (GRCm39) |
Y271C |
probably benign |
Het |
| Rfc4 |
T |
C |
16: 22,936,758 (GRCm39) |
I116V |
probably damaging |
Het |
| Ric1 |
T |
C |
19: 29,557,249 (GRCm39) |
Y445H |
probably benign |
Het |
| Rnmt |
G |
A |
18: 68,446,778 (GRCm39) |
D268N |
probably damaging |
Het |
| Rsph1 |
C |
T |
17: 31,484,873 (GRCm39) |
G139D |
probably damaging |
Het |
| Sez6l2 |
C |
A |
7: 126,560,984 (GRCm39) |
P483Q |
probably damaging |
Het |
| Sgo2b |
A |
G |
8: 64,379,889 (GRCm39) |
L981P |
probably damaging |
Het |
| Shmt2 |
A |
G |
10: 127,354,812 (GRCm39) |
|
probably null |
Het |
| Sorbs3 |
T |
C |
14: 70,430,076 (GRCm39) |
T353A |
possibly damaging |
Het |
| Stk25 |
T |
C |
1: 93,553,322 (GRCm39) |
T260A |
probably benign |
Het |
| Tasor |
A |
G |
14: 27,171,926 (GRCm39) |
S425G |
probably damaging |
Het |
| Thap12 |
A |
G |
7: 98,364,645 (GRCm39) |
H271R |
probably benign |
Het |
| Tmprss13 |
A |
G |
9: 45,247,405 (GRCm39) |
T256A |
probably benign |
Het |
| Tpo |
A |
T |
12: 30,181,808 (GRCm39) |
I29N |
possibly damaging |
Het |
| Trpc2 |
A |
T |
7: 101,739,783 (GRCm39) |
N569I |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,546,350 (GRCm39) |
T1607A |
probably benign |
Het |
| Vldlr |
A |
G |
19: 27,218,691 (GRCm39) |
N514S |
probably benign |
Het |
| Vps18 |
A |
G |
2: 119,127,613 (GRCm39) |
Y812C |
probably damaging |
Het |
| Zfp692 |
A |
T |
11: 58,204,866 (GRCm39) |
I409F |
probably damaging |
Het |
| Zfp735 |
G |
A |
11: 73,601,305 (GRCm39) |
C83Y |
possibly damaging |
Het |
| Zic1 |
A |
G |
9: 91,246,809 (GRCm39) |
S88P |
probably damaging |
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 |
|
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 |
|
R4532: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'- CCTGCATAAAGCTCCCTGGTGTTTG -3'
(R):5'- GCATGACTTTTCCTGAAAAGGGCTG -3'
Sequencing Primer
(F):5'- GGTCCTGGAAATCTCCCTGAAAG -3'
(R):5'- TTCCTGAAAAGGGCTGTAAAAC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation