Incidental Mutation 'R2279:Arhgap42'
ID |
242976 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap42
|
Ensembl Gene |
ENSMUSG00000050730 |
Gene Name |
Rho GTPase activating protein 42 |
Synonyms |
9030420J04Rik |
MMRRC Submission |
040278-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.916)
|
Stock # |
R2279 (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 C
at 9035512 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 277
(M277V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091419
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093893]
|
AlphaFold |
B2RQE8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093893
AA Change: M277V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000091419 Gene: ENSMUSG00000050730 AA Change: M277V
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 |
0.0589 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd17 |
G |
T |
5: 90,412,576 (GRCm39) |
N1249K |
probably damaging |
Het |
Anks1b |
T |
C |
10: 89,885,958 (GRCm39) |
M218T |
probably damaging |
Het |
Arfgef2 |
G |
C |
2: 166,707,679 (GRCm39) |
G1025A |
probably benign |
Het |
Arhgap21 |
T |
C |
2: 20,868,037 (GRCm39) |
I829V |
possibly damaging |
Het |
Cabin1 |
T |
C |
10: 75,589,295 (GRCm39) |
I87M |
probably benign |
Het |
Cdc42bpa |
A |
G |
1: 179,864,484 (GRCm39) |
N149D |
probably damaging |
Het |
Cdh20 |
C |
A |
1: 104,875,139 (GRCm39) |
A307E |
probably damaging |
Het |
Cdk18 |
A |
T |
1: 132,043,690 (GRCm39) |
Y385N |
probably damaging |
Het |
Cfap410 |
T |
C |
10: 77,817,476 (GRCm39) |
Y68H |
probably damaging |
Het |
Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
Cptp |
A |
G |
4: 155,950,878 (GRCm39) |
I196T |
probably damaging |
Het |
Cyp4b1 |
T |
A |
4: 115,497,557 (GRCm39) |
Y147F |
probably benign |
Het |
Dbf4 |
T |
C |
5: 8,471,333 (GRCm39) |
N36S |
possibly damaging |
Het |
Dbr1 |
G |
T |
9: 99,462,200 (GRCm39) |
Q166H |
probably benign |
Het |
Ddx42 |
T |
A |
11: 106,133,765 (GRCm39) |
D580E |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 117,987,387 (GRCm39) |
K1308E |
possibly damaging |
Het |
Dpep1 |
A |
T |
8: 123,920,883 (GRCm39) |
D21V |
probably benign |
Het |
Dspp |
G |
A |
5: 104,326,250 (GRCm39) |
S871N |
unknown |
Het |
En1 |
T |
A |
1: 120,534,916 (GRCm39) |
*402K |
probably null |
Het |
Eogt |
G |
T |
6: 97,111,262 (GRCm39) |
R200S |
probably benign |
Het |
Epb41l3 |
A |
G |
17: 69,577,645 (GRCm39) |
T542A |
possibly damaging |
Het |
Fam50b |
C |
T |
13: 34,930,823 (GRCm39) |
Q100* |
probably null |
Het |
Gask1a |
T |
C |
9: 121,794,668 (GRCm39) |
I274T |
probably benign |
Het |
Gh |
T |
C |
11: 106,191,613 (GRCm39) |
E143G |
probably damaging |
Het |
Hcn3 |
C |
A |
3: 89,055,168 (GRCm39) |
R693L |
probably benign |
Het |
Htra1 |
A |
T |
7: 130,563,752 (GRCm39) |
I208F |
probably damaging |
Het |
Ifna13 |
T |
A |
4: 88,562,156 (GRCm39) |
E156V |
probably benign |
Het |
Ints6 |
A |
G |
14: 62,942,131 (GRCm39) |
|
probably null |
Het |
Kifc5b |
A |
G |
17: 27,144,515 (GRCm39) |
I545V |
probably damaging |
Het |
Lrrc4c |
C |
T |
2: 97,460,850 (GRCm39) |
S492F |
possibly damaging |
Het |
Madd |
A |
T |
2: 90,974,028 (GRCm39) |
C1419S |
possibly damaging |
Het |
Map2k6 |
T |
C |
11: 110,390,290 (GRCm39) |
S275P |
probably damaging |
Het |
Mpp2 |
T |
C |
11: 101,955,127 (GRCm39) |
E166G |
probably damaging |
Het |
Mrpl48 |
G |
A |
7: 100,214,471 (GRCm39) |
T48I |
probably damaging |
Het |
Neu1 |
A |
G |
17: 35,153,350 (GRCm39) |
D291G |
probably damaging |
Het |
Nktr |
A |
G |
9: 121,560,603 (GRCm39) |
K116E |
possibly damaging |
Het |
Npc1 |
T |
C |
18: 12,330,236 (GRCm39) |
|
probably null |
Het |
Or6b9 |
A |
T |
7: 106,555,834 (GRCm39) |
M103K |
probably benign |
Het |
Or6c1b |
A |
T |
10: 129,273,526 (GRCm39) |
M282L |
probably benign |
Het |
Or8k1 |
T |
C |
2: 86,047,148 (GRCm39) |
E302G |
probably benign |
Het |
Pclo |
T |
A |
5: 14,764,287 (GRCm39) |
D4253E |
unknown |
Het |
Phactr1 |
A |
T |
13: 43,231,265 (GRCm39) |
S244C |
possibly damaging |
Het |
Prex1 |
A |
T |
2: 166,419,875 (GRCm39) |
I79N |
probably benign |
Het |
Rhebl1 |
A |
T |
15: 98,776,167 (GRCm39) |
D162E |
probably benign |
Het |
Rnf32 |
G |
T |
5: 29,430,278 (GRCm39) |
V366F |
probably benign |
Het |
Rpn2 |
A |
G |
2: 157,152,208 (GRCm39) |
T394A |
possibly damaging |
Het |
Ryr3 |
A |
T |
2: 112,479,664 (GRCm39) |
M4386K |
possibly damaging |
Het |
Sirt7 |
T |
C |
11: 120,515,321 (GRCm39) |
S112G |
probably damaging |
Het |
Slc1a6 |
A |
T |
10: 78,624,882 (GRCm39) |
M96L |
probably benign |
Het |
Slc25a29 |
T |
C |
12: 108,792,852 (GRCm39) |
E242G |
probably benign |
Het |
Slc30a2 |
G |
T |
4: 134,075,857 (GRCm39) |
Q210H |
probably benign |
Het |
Sorcs2 |
A |
T |
5: 36,199,430 (GRCm39) |
|
probably null |
Het |
Spink5 |
A |
G |
18: 44,119,396 (GRCm39) |
N236D |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,974,240 (GRCm39) |
E1146G |
possibly damaging |
Het |
Sytl3 |
A |
G |
17: 6,976,273 (GRCm39) |
|
probably benign |
Het |
Tasor |
A |
C |
14: 27,164,452 (GRCm39) |
K253Q |
probably damaging |
Het |
Tgm7 |
A |
G |
2: 120,929,045 (GRCm39) |
S284P |
probably damaging |
Het |
Tmem45a |
A |
T |
16: 56,643,882 (GRCm39) |
L89Q |
probably damaging |
Het |
Ttc23l |
A |
G |
15: 10,523,678 (GRCm39) |
I347T |
possibly damaging |
Het |
Txlna |
T |
C |
4: 129,525,935 (GRCm39) |
E304G |
probably damaging |
Het |
Zfp709 |
T |
C |
8: 72,642,934 (GRCm39) |
V121A |
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 |
|
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'- TGCTTATAAATACACCATAGCCCAG -3'
(R):5'- TTCCATCTACAGCGATGTGTGG -3'
Sequencing Primer
(F):5'- TAGCCCAGCTAAATAAAAACACTAC -3'
(R):5'- ATCTACAGCGATGTGTGGACACTC -3'
|
Posted On |
2014-10-16 |