Incidental Mutation 'R6846:Arhgap42'
| ID |
534768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap42
|
| Ensembl Gene |
ENSMUSG00000050730 |
| Gene Name |
Rho GTPase activating protein 42 |
| Synonyms |
9030420J04Rik |
| MMRRC Submission |
044952-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.916)
|
| Stock # |
R6846 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
8994330-9239106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 9006446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 650
(P650Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091419
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093893]
|
| AlphaFold |
B2RQE8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093893
AA Change: P650Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091419
Gene: ENSMUSG00000050730
AA Change: P650Q
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (42/42) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,989,221 (GRCm39) |
N3502D |
possibly damaging |
Het |
| Ambn |
T |
A |
5: 88,609,574 (GRCm39) |
I94K |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,660,179 (GRCm39) |
H227R |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,162,422 (GRCm39) |
E240G |
possibly damaging |
Het |
| Cd19 |
T |
C |
7: 126,010,025 (GRCm39) |
E408G |
probably benign |
Het |
| Cdh11 |
G |
A |
8: 103,391,276 (GRCm39) |
T320I |
probably damaging |
Het |
| Cep131 |
G |
A |
11: 119,956,517 (GRCm39) |
R944W |
probably damaging |
Het |
| Dgkd |
T |
G |
1: 87,853,413 (GRCm39) |
|
probably null |
Het |
| Dnaaf1 |
T |
A |
8: 120,309,401 (GRCm39) |
L163Q |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,814,081 (GRCm39) |
C1342R |
possibly damaging |
Het |
| Etl4 |
T |
A |
2: 20,748,919 (GRCm39) |
L550Q |
possibly damaging |
Het |
| Evpl |
T |
C |
11: 116,114,633 (GRCm39) |
E1019G |
probably damaging |
Het |
| Fam120b |
T |
C |
17: 15,635,091 (GRCm39) |
L601P |
probably damaging |
Het |
| Fhit |
C |
A |
14: 9,763,762 (GRCm38) |
R172L |
possibly damaging |
Het |
| Hoxa6 |
T |
C |
6: 52,183,523 (GRCm39) |
H174R |
possibly damaging |
Het |
| Htra4 |
A |
G |
8: 25,520,561 (GRCm39) |
F367L |
probably damaging |
Het |
| Ighg2c |
A |
G |
12: 113,251,930 (GRCm39) |
I102T |
unknown |
Het |
| Iws1 |
T |
C |
18: 32,219,326 (GRCm39) |
|
probably benign |
Het |
| Lats2 |
A |
G |
14: 57,933,591 (GRCm39) |
V842A |
probably damaging |
Het |
| Limd2 |
C |
T |
11: 106,050,213 (GRCm39) |
M1I |
probably null |
Het |
| Lrp2 |
T |
A |
2: 69,348,787 (GRCm39) |
Q728L |
probably damaging |
Het |
| Mcc |
T |
A |
18: 44,606,707 (GRCm39) |
T400S |
possibly damaging |
Het |
| Mthfd1l |
A |
G |
10: 3,997,898 (GRCm39) |
D623G |
probably damaging |
Het |
| Myocos |
T |
C |
1: 162,484,665 (GRCm39) |
|
probably benign |
Het |
| Nat1 |
G |
T |
8: 67,943,995 (GRCm39) |
A124S |
probably benign |
Het |
| Nfya |
A |
T |
17: 48,702,715 (GRCm39) |
M62K |
probably benign |
Het |
| Nlgn1 |
A |
G |
3: 25,490,506 (GRCm39) |
V378A |
probably damaging |
Het |
| Or52r1c |
T |
A |
7: 102,735,265 (GRCm39) |
I175N |
possibly damaging |
Het |
| Or5ak22 |
A |
T |
2: 85,230,861 (GRCm39) |
N5K |
probably damaging |
Het |
| Pitpnm2 |
T |
C |
5: 124,269,234 (GRCm39) |
S463G |
probably benign |
Het |
| Serpinb3b |
T |
C |
1: 107,082,403 (GRCm39) |
E287G |
probably benign |
Het |
| Slc16a13 |
T |
C |
11: 70,108,661 (GRCm39) |
T390A |
probably benign |
Het |
| Slc7a14 |
A |
G |
3: 31,278,372 (GRCm39) |
M411T |
probably damaging |
Het |
| Strn |
A |
G |
17: 79,043,886 (GRCm39) |
F11L |
probably damaging |
Het |
| Swap70 |
T |
A |
7: 109,854,956 (GRCm39) |
F85L |
possibly damaging |
Het |
| Tanc2 |
T |
A |
11: 105,689,479 (GRCm39) |
W214R |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,729,773 (GRCm39) |
K1411R |
probably benign |
Het |
| Tmem176a |
G |
T |
6: 48,820,759 (GRCm39) |
R116L |
probably damaging |
Het |
| Trim71 |
G |
T |
9: 114,354,115 (GRCm39) |
H296Q |
probably damaging |
Het |
| Vmn1r67 |
A |
T |
7: 10,180,840 (GRCm39) |
I35L |
probably benign |
Het |
| Vnn3 |
A |
G |
10: 23,727,620 (GRCm39) |
T47A |
probably benign |
Het |
| Zscan10 |
A |
T |
17: 23,824,581 (GRCm39) |
Q12H |
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 |
|
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 |
|
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'- CTTCAGCTGCAGAGATGGATC -3'
(R):5'- GTTACCAGCACTGTTGTCTGTC -3'
Sequencing Primer
(F):5'- TGGATCTGAGAGAGGAAGAAGC -3'
(R):5'- TCAGGTGACTCCTACAGCAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation