Incidental Mutation 'R5160:Arhgap42'
| ID |
396936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap42
|
| Ensembl Gene |
ENSMUSG00000050730 |
| Gene Name |
Rho GTPase activating protein 42 |
| Synonyms |
9030420J04Rik |
| MMRRC Submission |
042742-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.916)
|
| Stock # |
R5160 (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 8997656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 823
(K823T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091419
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093893]
|
| AlphaFold |
B2RQE8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093893
AA Change: K823T
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000091419
Gene: ENSMUSG00000050730
AA Change: K823T
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aftph |
G |
A |
11: 20,662,197 (GRCm39) |
P681L |
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,080,007 (GRCm39) |
R1920G |
probably damaging |
Het |
| Ano9 |
G |
A |
7: 140,684,278 (GRCm39) |
R495C |
probably damaging |
Het |
| Apoa5 |
A |
G |
9: 46,181,794 (GRCm39) |
Y290C |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,062,126 (GRCm39) |
I3536T |
possibly damaging |
Het |
| Bicc1 |
T |
C |
10: 70,768,066 (GRCm39) |
Y850C |
probably damaging |
Het |
| Cdh2 |
A |
T |
18: 16,762,644 (GRCm39) |
D433E |
probably damaging |
Het |
| Cfap100 |
A |
G |
6: 90,390,692 (GRCm39) |
|
probably null |
Het |
| Col6a5 |
T |
C |
9: 105,808,208 (GRCm39) |
N947D |
unknown |
Het |
| Col8a2 |
A |
G |
4: 126,204,205 (GRCm39) |
K72E |
possibly damaging |
Het |
| Ddx18 |
A |
G |
1: 121,493,608 (GRCm39) |
|
probably null |
Het |
| Dna2 |
T |
C |
10: 62,782,933 (GRCm39) |
V21A |
probably benign |
Het |
| Dnaja3 |
T |
A |
16: 4,502,152 (GRCm39) |
M52K |
probably benign |
Het |
| Fnip2 |
G |
A |
3: 79,396,298 (GRCm39) |
T504I |
probably damaging |
Het |
| Il18 |
G |
A |
9: 50,489,193 (GRCm39) |
|
probably null |
Het |
| Ina |
T |
A |
19: 47,003,519 (GRCm39) |
I109N |
probably damaging |
Het |
| Katnb1 |
G |
T |
8: 95,822,098 (GRCm39) |
V275L |
probably benign |
Het |
| Kdm6b |
C |
A |
11: 69,291,594 (GRCm39) |
|
probably benign |
Het |
| Kifc2 |
T |
A |
15: 76,547,177 (GRCm39) |
L251Q |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,738,105 (GRCm39) |
|
probably benign |
Het |
| Lcor |
T |
A |
19: 41,544,053 (GRCm39) |
V82E |
probably damaging |
Het |
| Limk2 |
A |
C |
11: 3,300,772 (GRCm39) |
V190G |
probably damaging |
Het |
| Luc7l |
A |
G |
17: 26,486,271 (GRCm39) |
D150G |
probably benign |
Het |
| Magi3 |
T |
A |
3: 103,935,224 (GRCm39) |
H903L |
possibly damaging |
Het |
| Mdh1b |
C |
T |
1: 63,764,804 (GRCm39) |
R33Q |
probably null |
Het |
| Myo9a |
T |
C |
9: 59,779,085 (GRCm39) |
F1614L |
probably benign |
Het |
| Ngly1 |
A |
G |
14: 16,281,751 (GRCm38) |
T210A |
probably damaging |
Het |
| Oas1h |
A |
G |
5: 121,009,145 (GRCm39) |
Y285C |
probably damaging |
Het |
| Or1l4b |
T |
A |
2: 37,036,815 (GRCm39) |
M197K |
probably benign |
Het |
| Or2h1 |
T |
C |
17: 37,404,616 (GRCm39) |
D50G |
possibly damaging |
Het |
| Or2y12 |
T |
C |
11: 49,426,516 (GRCm39) |
L168P |
probably damaging |
Het |
| Or4a79 |
T |
C |
2: 89,551,763 (GRCm39) |
R231G |
probably damaging |
Het |
| Or5ac25 |
C |
T |
16: 59,182,129 (GRCm39) |
G151R |
probably damaging |
Het |
| Or9s23 |
C |
T |
1: 92,501,544 (GRCm39) |
T217I |
probably benign |
Het |
| Osbpl7 |
T |
C |
11: 96,945,382 (GRCm39) |
S81P |
probably damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,079,480 (GRCm39) |
V74A |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,140,917 (GRCm39) |
D68G |
probably benign |
Het |
| Prkcz |
A |
T |
4: 155,377,689 (GRCm39) |
V79D |
probably benign |
Het |
| Ptpn12 |
T |
A |
5: 21,202,829 (GRCm39) |
I650F |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,501,895 (GRCm39) |
|
silent |
Het |
| Rnaseh2b |
T |
G |
14: 62,590,980 (GRCm39) |
Y56* |
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,477,272 (GRCm39) |
C4495S |
probably damaging |
Het |
| Tk1 |
A |
G |
11: 117,715,572 (GRCm39) |
I45T |
possibly damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Upp1 |
T |
C |
11: 9,085,193 (GRCm39) |
S227P |
possibly damaging |
Het |
| Vmn1r30 |
T |
A |
6: 58,412,368 (GRCm39) |
N155Y |
probably benign |
Het |
| Wdr35 |
C |
T |
12: 9,058,487 (GRCm39) |
A548V |
probably damaging |
Het |
| Zc3h3 |
A |
T |
15: 75,681,512 (GRCm39) |
M523K |
probably benign |
Het |
| Zc3h4 |
T |
C |
7: 16,168,573 (GRCm39) |
L894P |
unknown |
Het |
| Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
probably benign |
Het |
| Zfp873 |
C |
T |
10: 81,896,876 (GRCm39) |
H536Y |
possibly damaging |
Het |
| Zmym4 |
A |
T |
4: 126,763,977 (GRCm39) |
N1354K |
probably damaging |
Het |
| Zscan20 |
A |
G |
4: 128,486,275 (GRCm39) |
S142P |
possibly 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 |
|
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'- GAGCTACAAAGTCTGCTGGTG -3'
(R):5'- AGCCTGGCAAGTGTATCATG -3'
Sequencing Primer
(F):5'- TCTGCTGGTGAAAAACTTGAGACAC -3'
(R):5'- AGCCTGGCAAGTGTATCATGTTTAC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation