Incidental Mutation 'R6172:Arhgap42'
ID |
488253 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap42
|
Ensembl Gene |
ENSMUSG00000050730 |
Gene Name |
Rho GTPase activating protein 42 |
Synonyms |
9030420J04Rik |
MMRRC Submission |
044315-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.916)
|
Stock # |
R6172 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
8994330-9239106 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 9148246 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 108
(C108S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138500
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093893]
[ENSMUST00000183182]
[ENSMUST00000215397]
|
AlphaFold |
B2RQE8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093893
|
SMART Domains |
Protein: ENSMUSP00000091419 Gene: ENSMUSG00000050730
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
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183182
AA Change: C108S
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000138500 Gene: ENSMUSG00000050730 AA Change: C108S
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
113 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215397
|
Meta Mutation Damage Score |
0.1712 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
Validation Efficiency |
100% (44/44) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bbs2 |
T |
C |
8: 94,814,039 (GRCm39) |
E193G |
probably benign |
Het |
Bpifb2 |
C |
A |
2: 153,732,332 (GRCm39) |
H310Q |
probably benign |
Het |
Cand2 |
A |
G |
6: 115,768,271 (GRCm39) |
E472G |
probably benign |
Het |
Cd81 |
A |
G |
7: 142,606,691 (GRCm39) |
|
probably benign |
Het |
Chd5 |
A |
T |
4: 152,463,848 (GRCm39) |
H1476L |
probably damaging |
Het |
Clpx |
C |
A |
9: 65,209,161 (GRCm39) |
S92* |
probably null |
Het |
Cstf3 |
T |
C |
2: 104,481,987 (GRCm39) |
V276A |
probably damaging |
Het |
Ehd4 |
G |
A |
2: 119,932,737 (GRCm39) |
Q230* |
probably null |
Het |
Erich3 |
A |
G |
3: 154,469,978 (GRCm39) |
T4A |
possibly damaging |
Het |
Erlin2 |
T |
G |
8: 27,526,123 (GRCm39) |
|
probably null |
Het |
Exosc1 |
C |
A |
19: 41,912,442 (GRCm39) |
Q148H |
probably damaging |
Het |
Fbxw27 |
A |
T |
9: 109,601,337 (GRCm39) |
V261E |
probably damaging |
Het |
Flrt2 |
T |
A |
12: 95,746,305 (GRCm39) |
N214K |
probably damaging |
Het |
Foxp1 |
G |
A |
6: 98,992,471 (GRCm39) |
Q41* |
probably null |
Het |
Foxp1 |
C |
A |
6: 98,992,475 (GRCm39) |
|
probably null |
Het |
Frk |
T |
C |
10: 34,467,961 (GRCm39) |
L325P |
probably damaging |
Het |
Gm21698 |
T |
C |
5: 26,192,371 (GRCm39) |
I72V |
probably benign |
Het |
Gm39115 |
A |
T |
7: 141,689,651 (GRCm39) |
C41S |
unknown |
Het |
Hectd1 |
G |
A |
12: 51,816,065 (GRCm39) |
P1336S |
probably damaging |
Het |
Ighv7-1 |
T |
C |
12: 113,860,183 (GRCm39) |
S70G |
probably damaging |
Het |
Itga10 |
T |
C |
3: 96,554,753 (GRCm39) |
I78T |
probably benign |
Het |
Itgb4 |
A |
G |
11: 115,891,237 (GRCm39) |
H1218R |
probably benign |
Het |
Marchf6 |
A |
T |
15: 31,483,013 (GRCm39) |
N463K |
possibly damaging |
Het |
Muc5b |
A |
C |
7: 141,412,513 (GRCm39) |
T1820P |
unknown |
Het |
Nfatc4 |
A |
G |
14: 56,066,990 (GRCm39) |
T510A |
possibly damaging |
Het |
Nwd2 |
G |
T |
5: 63,964,249 (GRCm39) |
V1278F |
probably damaging |
Het |
Or52n2c |
A |
C |
7: 104,574,503 (GRCm39) |
M156R |
probably benign |
Het |
Or7g19 |
A |
G |
9: 18,856,042 (GRCm39) |
T33A |
probably benign |
Het |
P2rx1 |
G |
A |
11: 72,900,856 (GRCm39) |
V209M |
probably damaging |
Het |
Pkn1 |
T |
C |
8: 84,397,384 (GRCm39) |
K874R |
possibly damaging |
Het |
Plec |
C |
T |
15: 76,056,576 (GRCm39) |
V4444I |
probably damaging |
Het |
Ppp1r37 |
A |
T |
7: 19,266,329 (GRCm39) |
M479K |
possibly damaging |
Het |
Prr11 |
A |
C |
11: 86,994,449 (GRCm39) |
F66V |
probably benign |
Het |
Rbbp5 |
A |
G |
1: 132,424,554 (GRCm39) |
D268G |
possibly damaging |
Het |
Rbbp6 |
T |
A |
7: 122,597,778 (GRCm39) |
Y734* |
probably null |
Het |
Rc3h2 |
GCC |
GCCC |
2: 37,304,745 (GRCm39) |
|
probably null |
Het |
Rhou |
A |
G |
8: 124,387,903 (GRCm39) |
K212E |
probably benign |
Het |
Rsph1 |
G |
A |
17: 31,492,392 (GRCm39) |
T58I |
probably benign |
Het |
Serpina3m |
A |
G |
12: 104,355,486 (GRCm39) |
N51S |
probably damaging |
Het |
Shisa6 |
A |
T |
11: 66,108,832 (GRCm39) |
D348E |
probably benign |
Het |
Slc6a5 |
T |
A |
7: 49,598,081 (GRCm39) |
Y648* |
probably null |
Het |
Stag3 |
A |
G |
5: 138,298,105 (GRCm39) |
D699G |
probably benign |
Het |
Terf2ip |
A |
T |
8: 112,744,649 (GRCm39) |
D322V |
probably damaging |
Het |
Vmn1r125 |
A |
T |
7: 21,006,275 (GRCm39) |
M58L |
probably benign |
Het |
Wdr49 |
T |
A |
3: 75,205,487 (GRCm39) |
D643V |
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 |
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 |
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 |
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'- AGAGAGTTTCAGAACTGCACAGC -3'
(R):5'- GAAATGATGTTGCAAACTGCTG -3'
Sequencing Primer
(F):5'- TGCCCAGAACAACAGTGAATG -3'
(R):5'- GATGTTGCAAACTGCTGTAGATATTG -3'
|
Posted On |
2017-10-10 |