Incidental Mutation 'R6782:Arhgap42'
| ID |
531475 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap42
|
| Ensembl Gene |
ENSMUSG00000050730 |
| Gene Name |
Rho GTPase activating protein 42 |
| Synonyms |
9030420J04Rik |
| MMRRC Submission |
044896-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.916)
|
| Stock # |
R6782 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
8994330-9239106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 9115721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 118
(K118N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091419
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093893]
[ENSMUST00000215397]
|
| AlphaFold |
B2RQE8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093893
AA Change: K118N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091419
Gene: ENSMUSG00000050730
AA Change: K118N
| 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 |
probably benign
Transcript: ENSMUST00000215397
AA Change: K118N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.7%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
C |
T |
7: 119,847,308 (GRCm39) |
A724V |
probably damaging |
Het |
| Abcc3 |
A |
T |
11: 94,249,776 (GRCm39) |
F1055L |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| Ankrd17 |
T |
C |
5: 90,402,597 (GRCm39) |
K1488R |
possibly damaging |
Het |
| Ano1 |
G |
A |
7: 144,175,424 (GRCm39) |
T498I |
probably damaging |
Het |
| Arl5b |
A |
G |
2: 15,077,993 (GRCm39) |
E106G |
probably damaging |
Het |
| Atp5mc3 |
C |
T |
2: 73,739,672 (GRCm39) |
R56Q |
probably benign |
Het |
| Bbx |
T |
C |
16: 50,020,928 (GRCm39) |
R749G |
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,350,376 (GRCm39) |
S490P |
probably damaging |
Het |
| Ccdc63 |
A |
T |
5: 122,249,077 (GRCm39) |
Y417* |
probably null |
Het |
| Cep162 |
A |
T |
9: 87,093,737 (GRCm39) |
N880K |
probably benign |
Het |
| Chd2 |
G |
A |
7: 73,125,127 (GRCm39) |
Q77* |
probably null |
Het |
| Cntrl |
T |
G |
2: 35,060,658 (GRCm39) |
M1397R |
possibly damaging |
Het |
| Dcaf7 |
A |
G |
11: 105,945,581 (GRCm39) |
Y310C |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,449,302 (GRCm39) |
S4235T |
possibly damaging |
Het |
| Dot1l |
C |
T |
10: 80,625,224 (GRCm39) |
P1157L |
probably damaging |
Het |
| Esco2 |
T |
C |
14: 66,057,465 (GRCm39) |
T577A |
probably benign |
Het |
| Foxp1 |
T |
C |
6: 98,907,106 (GRCm39) |
D624G |
probably damaging |
Het |
| Gfi1 |
A |
T |
5: 107,873,819 (GRCm39) |
|
probably null |
Het |
| Gm10985 |
TTCTCTCTCTCTCTCTCT |
TTCTCTCTCTCTCTCT |
3: 53,752,626 (GRCm39) |
|
probably null |
Het |
| Gm5113 |
G |
A |
7: 29,878,178 (GRCm39) |
V89I |
probably benign |
Het |
| Gtf3c2 |
A |
C |
5: 31,327,180 (GRCm39) |
L382R |
probably benign |
Het |
| H3c2 |
T |
C |
13: 23,936,393 (GRCm39) |
S11P |
probably benign |
Het |
| Hhip |
T |
C |
8: 80,778,233 (GRCm39) |
N99S |
probably damaging |
Het |
| Htr5b |
T |
C |
1: 121,438,227 (GRCm39) |
I335V |
probably benign |
Het |
| Ifi206 |
A |
G |
1: 173,308,923 (GRCm39) |
S358P |
unknown |
Het |
| Loxhd1 |
T |
A |
18: 77,518,873 (GRCm39) |
V1893D |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,945,968 (GRCm39) |
R11G |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,266,148 (GRCm39) |
|
probably null |
Het |
| Npr1 |
T |
C |
3: 90,363,560 (GRCm39) |
N821S |
probably benign |
Het |
| Or4g16 |
A |
G |
2: 111,137,090 (GRCm39) |
D180G |
probably damaging |
Het |
| Or52a24 |
A |
G |
7: 103,381,549 (GRCm39) |
T139A |
possibly damaging |
Het |
| Or5p63 |
T |
C |
7: 107,811,670 (GRCm39) |
D22G |
probably benign |
Het |
| Or5p70 |
T |
G |
7: 107,994,744 (GRCm39) |
M139R |
probably damaging |
Het |
| Pi4ka |
T |
A |
16: 17,143,852 (GRCm39) |
D739V |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Ptprd |
T |
C |
4: 76,243,377 (GRCm39) |
|
probably null |
Het |
| Ralgapb |
G |
A |
2: 158,278,486 (GRCm39) |
G5R |
probably damaging |
Het |
| Ric8b |
T |
C |
10: 84,783,391 (GRCm39) |
V83A |
probably damaging |
Het |
| Sdc2 |
C |
A |
15: 33,028,281 (GRCm39) |
T133K |
probably damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,947,088 (GRCm39) |
V592D |
probably damaging |
Het |
| Sorcs1 |
G |
T |
19: 50,164,560 (GRCm39) |
Y990* |
probably null |
Het |
| Spata13 |
G |
T |
14: 60,928,912 (GRCm39) |
G157W |
probably damaging |
Het |
| Tada1 |
A |
G |
1: 166,217,541 (GRCm39) |
N226S |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 49,099,291 (GRCm39) |
|
probably null |
Het |
| Tll1 |
A |
G |
8: 64,524,315 (GRCm39) |
V457A |
probably benign |
Het |
| Tmem232 |
T |
C |
17: 65,807,119 (GRCm39) |
K25E |
possibly damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,773,063 (GRCm39) |
S406G |
unknown |
Het |
| Ush2a |
A |
G |
1: 188,089,031 (GRCm39) |
M329V |
probably benign |
Het |
| Vmn2r107 |
T |
C |
17: 20,577,141 (GRCm39) |
S380P |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,519,563 (GRCm39) |
M465T |
probably benign |
Het |
| Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
| Zfp217 |
T |
C |
2: 169,958,178 (GRCm39) |
D463G |
probably damaging |
Het |
| Zfp345 |
T |
C |
2: 150,315,274 (GRCm39) |
S88G |
probably damaging |
Het |
| Zfp975 |
A |
C |
7: 42,311,454 (GRCm39) |
N386K |
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 |
|
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 |
|
|
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'- ATTCCCAACCATCGCAGGAG -3'
(R):5'- TGAAACCCACTCCATTATCAGG -3'
Sequencing Primer
(F):5'- ACACACATGCATGTTCTCTATTTAG -3'
(R):5'- GCTAAATGAAGGAGACCATT -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation