Incidental Mutation 'R7443:Vmn2r117'
| ID |
577126 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r117
|
| Ensembl Gene |
ENSMUSG00000091407 |
| Gene Name |
vomeronasal 2, receptor 117 |
| Synonyms |
EG619788, V2Rp6 |
| MMRRC Submission |
045519-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R7443 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23678649-23698571 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 23679319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 635
(C635Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171996]
|
| AlphaFold |
K7N6V1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171996
AA Change: C635Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126885
Gene: ENSMUSG00000091407
AA Change: C635Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
471 |
2.6e-28 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
5e-20 |
PFAM |
|
Pfam:7tm_3
|
595 |
833 |
8.2e-54 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
C |
1: 156,452,951 (GRCm39) |
I162T |
probably damaging |
Het |
| Acaca |
G |
A |
11: 84,206,619 (GRCm39) |
S1493N |
probably benign |
Het |
| Arf2 |
T |
A |
11: 103,859,976 (GRCm39) |
M18K |
probably benign |
Het |
| Bag5 |
A |
G |
12: 111,677,161 (GRCm39) |
S221P |
probably damaging |
Het |
| Bcr |
T |
C |
10: 74,978,968 (GRCm39) |
|
probably null |
Het |
| Btg2 |
T |
A |
1: 134,005,433 (GRCm39) |
K51* |
probably null |
Het |
| Chrne |
A |
G |
11: 70,509,092 (GRCm39) |
V130A |
probably benign |
Het |
| Cracd |
T |
C |
5: 77,004,485 (GRCm39) |
V282A |
unknown |
Het |
| Cubn |
T |
A |
2: 13,460,320 (GRCm39) |
D714V |
probably damaging |
Het |
| Cyp4a29 |
A |
T |
4: 115,105,756 (GRCm39) |
I153F |
probably damaging |
Het |
| Dph7 |
C |
A |
2: 24,852,505 (GRCm39) |
H5Q |
probably benign |
Het |
| Epha6 |
T |
C |
16: 59,595,988 (GRCm39) |
N901S |
possibly damaging |
Het |
| Exosc9 |
C |
A |
3: 36,607,990 (GRCm39) |
P66Q |
probably damaging |
Het |
| Foxn3 |
T |
C |
12: 99,355,038 (GRCm39) |
D42G |
possibly damaging |
Het |
| Gbp11 |
A |
G |
5: 105,478,816 (GRCm39) |
|
probably null |
Het |
| Gm3264 |
A |
T |
14: 16,058,304 (GRCm39) |
Y37F |
probably damaging |
Het |
| H2-M10.2 |
T |
A |
17: 36,596,945 (GRCm39) |
I44F |
probably benign |
Het |
| Hemgn |
A |
T |
4: 46,396,145 (GRCm39) |
F364I |
probably damaging |
Het |
| Hnf4a |
A |
G |
2: 163,400,932 (GRCm39) |
I184V |
probably benign |
Het |
| Ighe |
G |
T |
12: 113,235,785 (GRCm39) |
C180* |
probably null |
Het |
| Iigp1c |
A |
T |
18: 60,379,122 (GRCm39) |
N219I |
probably benign |
Het |
| Klk1b22 |
T |
A |
7: 43,765,534 (GRCm39) |
I162K |
probably benign |
Het |
| Lmo3 |
C |
T |
6: 138,354,220 (GRCm39) |
A104T |
probably damaging |
Het |
| Lsm14a |
A |
G |
7: 34,053,263 (GRCm39) |
V263A |
probably benign |
Het |
| Ltbp1 |
T |
C |
17: 75,671,432 (GRCm39) |
Y1538H |
probably damaging |
Het |
| Ly6g6g |
T |
C |
15: 74,647,249 (GRCm39) |
E32G |
|
Het |
| Map9 |
A |
G |
3: 82,278,663 (GRCm39) |
E221G |
possibly damaging |
Het |
| Mccc2 |
G |
A |
13: 100,130,144 (GRCm39) |
A71V |
possibly damaging |
Het |
| Mdc1 |
T |
A |
17: 36,161,712 (GRCm39) |
V875E |
probably damaging |
Het |
| Mier2 |
A |
T |
10: 79,376,289 (GRCm39) |
I212N |
unknown |
Het |
| Mitd1 |
T |
C |
1: 37,920,117 (GRCm39) |
T164A |
probably benign |
Het |
| Myh1 |
T |
C |
11: 67,111,331 (GRCm39) |
I1590T |
probably benign |
Het |
| Mylk2 |
T |
G |
2: 152,753,346 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,829,652 (GRCm39) |
V118E |
probably benign |
Het |
| Nynrin |
G |
A |
14: 56,108,873 (GRCm39) |
V1327I |
probably benign |
Het |
| Oas1c |
C |
A |
5: 120,943,484 (GRCm39) |
K218N |
probably damaging |
Het |
| Or11g24 |
A |
G |
14: 50,662,507 (GRCm39) |
D177G |
probably damaging |
Het |
| Or13a18 |
A |
G |
7: 140,190,961 (GRCm39) |
N286S |
probably damaging |
Het |
| Or1e23 |
A |
T |
11: 73,407,674 (GRCm39) |
V117D |
possibly damaging |
Het |
| Or4a80 |
T |
A |
2: 89,582,285 (GRCm39) |
M296L |
probably benign |
Het |
| Or5g26 |
T |
A |
2: 85,493,912 (GRCm39) |
I289F |
probably damaging |
Het |
| Or5h17 |
T |
A |
16: 58,820,353 (GRCm39) |
F102I |
probably damaging |
Het |
| Otoa |
A |
T |
7: 120,731,633 (GRCm39) |
M618L |
probably benign |
Het |
| P3r3urf |
G |
A |
4: 116,030,664 (GRCm39) |
G23R |
probably benign |
Het |
| Plcg2 |
A |
T |
8: 118,231,028 (GRCm39) |
T37S |
probably benign |
Het |
| Plekhg4 |
T |
C |
8: 106,107,499 (GRCm39) |
L1010P |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,943,675 (GRCm39) |
F1921L |
probably damaging |
Het |
| Prss47 |
T |
A |
13: 65,197,303 (GRCm39) |
K144N |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,988,531 (GRCm39) |
K953E |
probably damaging |
Het |
| Rasip1 |
T |
A |
7: 45,288,148 (GRCm39) |
I909N |
probably damaging |
Het |
| Rps5 |
A |
G |
7: 12,656,922 (GRCm39) |
T8A |
probably benign |
Het |
| Rsbn1l |
T |
C |
5: 21,132,621 (GRCm39) |
K213E |
possibly damaging |
Het |
| Serpinb5 |
T |
C |
1: 106,809,700 (GRCm39) |
F369L |
probably benign |
Het |
| Slc4a5 |
T |
C |
6: 83,241,297 (GRCm39) |
V306A |
probably benign |
Het |
| Sox13 |
T |
C |
1: 133,312,369 (GRCm39) |
Y465C |
probably damaging |
Het |
| Sox13 |
C |
A |
1: 133,312,311 (GRCm39) |
K484N |
probably damaging |
Het |
| Stx3 |
A |
G |
19: 11,769,208 (GRCm39) |
I39T |
possibly damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,273,763 (GRCm39) |
Y116C |
probably damaging |
Het |
| Tcp11l1 |
T |
A |
2: 104,514,480 (GRCm39) |
Q429L |
probably benign |
Het |
| Tns3 |
G |
A |
11: 8,401,442 (GRCm39) |
T952I |
probably benign |
Het |
| Trib3 |
T |
C |
2: 152,181,692 (GRCm39) |
H176R |
possibly damaging |
Het |
| Trim12a |
A |
G |
7: 103,950,049 (GRCm39) |
Y297H |
probably damaging |
Het |
| Unc13a |
A |
G |
8: 72,083,603 (GRCm39) |
V1577A |
probably damaging |
Het |
| Vezf1 |
C |
A |
11: 87,965,489 (GRCm39) |
P244T |
probably damaging |
Het |
| Vmn1r121 |
T |
A |
7: 20,831,945 (GRCm39) |
D165V |
probably damaging |
Het |
| Vmn2r13 |
T |
A |
5: 109,339,909 (GRCm39) |
H22L |
probably benign |
Het |
| Vmn2r87 |
A |
T |
10: 130,308,588 (GRCm39) |
M550K |
probably damaging |
Het |
| Wdr6 |
A |
G |
9: 108,451,489 (GRCm39) |
L798P |
probably damaging |
Het |
| Wtap |
C |
T |
17: 13,199,821 (GRCm39) |
G54D |
probably benign |
Het |
| Zfp827 |
A |
G |
8: 79,917,047 (GRCm39) |
S541G |
|
Het |
| Zkscan3 |
A |
T |
13: 21,572,608 (GRCm39) |
Y341* |
probably null |
Het |
|
| Other mutations in Vmn2r117 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Vmn2r117
|
APN |
17 |
23,698,520 (GRCm39) |
missense |
probably benign |
|
|
IGL00990:Vmn2r117
|
APN |
17 |
23,696,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00990:Vmn2r117
|
APN |
17 |
23,694,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01078:Vmn2r117
|
APN |
17 |
23,696,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01139:Vmn2r117
|
APN |
17 |
23,696,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01374:Vmn2r117
|
APN |
17 |
23,697,356 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01779:Vmn2r117
|
APN |
17 |
23,696,215 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02283:Vmn2r117
|
APN |
17 |
23,694,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02527:Vmn2r117
|
APN |
17 |
23,696,199 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02612:Vmn2r117
|
APN |
17 |
23,678,758 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02887:Vmn2r117
|
APN |
17 |
23,694,552 (GRCm39) |
splice site |
probably benign |
|
|
IGL03167:Vmn2r117
|
APN |
17 |
23,696,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0315:Vmn2r117
|
UTSW |
17 |
23,679,139 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0610:Vmn2r117
|
UTSW |
17 |
23,694,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0747:Vmn2r117
|
UTSW |
17 |
23,694,477 (GRCm39) |
nonsense |
probably null |
|
|
R1411:Vmn2r117
|
UTSW |
17 |
23,679,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1471:Vmn2r117
|
UTSW |
17 |
23,697,447 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1853:Vmn2r117
|
UTSW |
17 |
23,696,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1925:Vmn2r117
|
UTSW |
17 |
23,697,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1940:Vmn2r117
|
UTSW |
17 |
23,696,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2005:Vmn2r117
|
UTSW |
17 |
23,696,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2082:Vmn2r117
|
UTSW |
17 |
23,679,230 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2698:Vmn2r117
|
UTSW |
17 |
23,678,885 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2972:Vmn2r117
|
UTSW |
17 |
23,678,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2973:Vmn2r117
|
UTSW |
17 |
23,678,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2974:Vmn2r117
|
UTSW |
17 |
23,678,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3160:Vmn2r117
|
UTSW |
17 |
23,679,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3161:Vmn2r117
|
UTSW |
17 |
23,679,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Vmn2r117
|
UTSW |
17 |
23,679,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3847:Vmn2r117
|
UTSW |
17 |
23,679,389 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3848:Vmn2r117
|
UTSW |
17 |
23,679,389 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4082:Vmn2r117
|
UTSW |
17 |
23,679,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4320:Vmn2r117
|
UTSW |
17 |
23,698,487 (GRCm39) |
frame shift |
probably null |
|
|
R4560:Vmn2r117
|
UTSW |
17 |
23,678,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4658:Vmn2r117
|
UTSW |
17 |
23,697,390 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4881:Vmn2r117
|
UTSW |
17 |
23,696,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4908:Vmn2r117
|
UTSW |
17 |
23,678,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4910:Vmn2r117
|
UTSW |
17 |
23,698,487 (GRCm39) |
frame shift |
probably null |
|
|
R5078:Vmn2r117
|
UTSW |
17 |
23,679,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5327:Vmn2r117
|
UTSW |
17 |
23,696,848 (GRCm39) |
nonsense |
probably null |
|
|
R5774:Vmn2r117
|
UTSW |
17 |
23,696,176 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6014:Vmn2r117
|
UTSW |
17 |
23,698,535 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6390:Vmn2r117
|
UTSW |
17 |
23,679,088 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6520:Vmn2r117
|
UTSW |
17 |
23,679,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6674:Vmn2r117
|
UTSW |
17 |
23,679,023 (GRCm39) |
nonsense |
probably null |
|
|
R6736:Vmn2r117
|
UTSW |
17 |
23,697,282 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6909:Vmn2r117
|
UTSW |
17 |
23,698,479 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6913:Vmn2r117
|
UTSW |
17 |
23,698,537 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7220:Vmn2r117
|
UTSW |
17 |
23,696,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7260:Vmn2r117
|
UTSW |
17 |
23,694,359 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7440:Vmn2r117
|
UTSW |
17 |
23,694,539 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7443:Vmn2r117
|
UTSW |
17 |
23,679,107 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7449:Vmn2r117
|
UTSW |
17 |
23,678,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7644:Vmn2r117
|
UTSW |
17 |
23,696,265 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7914:Vmn2r117
|
UTSW |
17 |
23,679,100 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8001:Vmn2r117
|
UTSW |
17 |
23,698,381 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8029:Vmn2r117
|
UTSW |
17 |
23,696,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8340:Vmn2r117
|
UTSW |
17 |
23,679,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8519:Vmn2r117
|
UTSW |
17 |
23,698,442 (GRCm39) |
missense |
probably benign |
|
|
R8723:Vmn2r117
|
UTSW |
17 |
23,696,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8914:Vmn2r117
|
UTSW |
17 |
23,679,143 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9010:Vmn2r117
|
UTSW |
17 |
23,679,445 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9129:Vmn2r117
|
UTSW |
17 |
23,678,918 (GRCm39) |
nonsense |
probably null |
|
|
R9244:Vmn2r117
|
UTSW |
17 |
23,696,589 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9464:Vmn2r117
|
UTSW |
17 |
23,696,578 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9620:Vmn2r117
|
UTSW |
17 |
23,697,450 (GRCm39) |
missense |
probably damaging |
0.97 |
|
V5622:Vmn2r117
|
UTSW |
17 |
23,698,479 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
V5622:Vmn2r117
|
UTSW |
17 |
23,696,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Vmn2r117
|
UTSW |
17 |
23,678,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAAGTACTTCATCATTCTTTGGGAGG -3'
(R):5'- TGTCTGGAGGACCAATATGCTAAC -3'
Sequencing Primer
(F):5'- AGGCTGTGATTTTGAATGCCAGAAC -3'
(R):5'- TCGTAAAACTGTTGTATTTCTCAGC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation