Incidental Mutation 'R0472:Vmn2r120'
| ID |
46851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r120
|
| Ensembl Gene |
ENSMUSG00000090655 |
| Gene Name |
vomeronasal 2, receptor 120 |
| Synonyms |
EG224916 |
| MMRRC Submission |
038672-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R0472 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
57815783-57852314 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 57831518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 424
(V424I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165781]
|
| AlphaFold |
A0A3Q4EG79 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165781
AA Change: V424I
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000129296
Gene: ENSMUSG00000090655
AA Change: V424I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
80 |
474 |
5.9e-42 |
PFAM |
|
Pfam:NCD3G
|
517 |
570 |
7.5e-22 |
PFAM |
|
Pfam:7tm_3
|
598 |
836 |
1.3e-54 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
97% (65/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700128F08Rik |
A |
G |
9: 8,222,123 (GRCm39) |
|
noncoding transcript |
Het |
| AI182371 |
T |
C |
2: 34,975,218 (GRCm39) |
N337S |
probably benign |
Het |
| Aldh3b1 |
C |
T |
19: 3,964,024 (GRCm39) |
R426H |
probably damaging |
Het |
| Arap2 |
A |
G |
5: 62,864,002 (GRCm39) |
F541L |
probably damaging |
Het |
| Asap2 |
G |
T |
12: 21,263,186 (GRCm39) |
R267L |
possibly damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Bmp8b |
T |
A |
4: 123,015,692 (GRCm39) |
D226E |
probably benign |
Het |
| C1ra |
T |
A |
6: 124,494,403 (GRCm39) |
D283E |
possibly damaging |
Het |
| Cacul1 |
G |
T |
19: 60,531,464 (GRCm39) |
H268Q |
probably damaging |
Het |
| Cd9 |
T |
C |
6: 125,449,396 (GRCm39) |
N49D |
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,867,744 (GRCm39) |
H193R |
probably damaging |
Het |
| Cep290 |
G |
A |
10: 100,387,317 (GRCm39) |
G1935E |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,790,469 (GRCm39) |
I1362N |
probably damaging |
Het |
| Chchd7 |
A |
T |
4: 3,943,416 (GRCm39) |
N61I |
possibly damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,733,106 (GRCm39) |
L134Q |
probably damaging |
Het |
| Clec2j |
T |
C |
6: 128,633,565 (GRCm39) |
|
noncoding transcript |
Het |
| Clvs1 |
G |
A |
4: 9,281,801 (GRCm39) |
A82T |
probably damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,825,486 (GRCm39) |
Y231F |
possibly damaging |
Het |
| Cyp2c55 |
A |
T |
19: 39,019,823 (GRCm39) |
T254S |
probably benign |
Het |
| Decr1 |
A |
G |
4: 15,919,849 (GRCm39) |
S290P |
probably damaging |
Het |
| Dnai2 |
T |
A |
11: 114,636,015 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
C |
A |
12: 40,888,437 (GRCm39) |
|
probably benign |
Het |
| Dst |
T |
C |
1: 34,306,041 (GRCm39) |
|
probably null |
Het |
| Elmo2 |
A |
G |
2: 165,140,250 (GRCm39) |
I315T |
probably damaging |
Het |
| Fcho2 |
A |
G |
13: 98,884,775 (GRCm39) |
F431L |
probably benign |
Het |
| Fez2 |
A |
G |
17: 78,692,261 (GRCm39) |
|
probably benign |
Het |
| Gas2l3 |
C |
T |
10: 89,262,339 (GRCm39) |
A128T |
probably damaging |
Het |
| Hpse2 |
T |
C |
19: 43,001,602 (GRCm39) |
I222M |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,472,139 (GRCm39) |
N1548S |
probably damaging |
Het |
| Kcna2 |
A |
G |
3: 107,012,832 (GRCm39) |
D471G |
probably benign |
Het |
| Kcnj13 |
T |
A |
1: 87,314,568 (GRCm39) |
Y218F |
probably benign |
Het |
| Kif1a |
T |
C |
1: 92,946,719 (GRCm39) |
H1763R |
probably damaging |
Het |
| Krt1c |
C |
T |
15: 101,721,688 (GRCm39) |
R451H |
probably damaging |
Het |
| Lama2 |
A |
G |
10: 26,866,863 (GRCm39) |
V2877A |
probably damaging |
Het |
| Lrrc2 |
A |
T |
9: 110,791,685 (GRCm39) |
M80L |
probably benign |
Het |
| Naip6 |
A |
G |
13: 100,438,768 (GRCm39) |
V343A |
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,341,532 (GRCm39) |
Y753H |
probably damaging |
Het |
| Nif3l1 |
A |
C |
1: 58,486,987 (GRCm39) |
S58R |
probably damaging |
Het |
| Or51h7 |
A |
T |
7: 102,591,258 (GRCm39) |
C175* |
probably null |
Het |
| Or5w20 |
T |
A |
2: 87,726,837 (GRCm39) |
V98E |
possibly damaging |
Het |
| Or9r3 |
G |
A |
10: 129,948,449 (GRCm39) |
S70F |
probably damaging |
Het |
| Osbpl11 |
C |
A |
16: 33,054,814 (GRCm39) |
Y632* |
probably null |
Het |
| Pask |
A |
T |
1: 93,248,639 (GRCm39) |
D920E |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,731,608 (GRCm39) |
V3370A |
unknown |
Het |
| Ptpn21 |
G |
A |
12: 98,670,499 (GRCm39) |
|
probably benign |
Het |
| Rph3al |
T |
C |
11: 75,799,795 (GRCm39) |
I55V |
probably benign |
Het |
| Rsad2 |
T |
G |
12: 26,504,167 (GRCm39) |
I121L |
possibly damaging |
Het |
| Sergef |
T |
G |
7: 46,283,170 (GRCm39) |
|
probably benign |
Het |
| Sp110 |
C |
T |
1: 85,516,841 (GRCm39) |
E219K |
possibly damaging |
Het |
| Tas2r104 |
T |
C |
6: 131,662,434 (GRCm39) |
I92V |
probably benign |
Het |
| Tasor2 |
A |
G |
13: 3,638,364 (GRCm39) |
S456P |
possibly damaging |
Het |
| Tbc1d23 |
T |
A |
16: 56,993,469 (GRCm39) |
I566F |
possibly damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,059,055 (GRCm39) |
|
probably null |
Het |
| Tie1 |
T |
A |
4: 118,333,344 (GRCm39) |
I841L |
possibly damaging |
Het |
| Tpo |
A |
G |
12: 30,150,485 (GRCm39) |
V465A |
probably benign |
Het |
| Ttll3 |
A |
T |
6: 113,386,300 (GRCm39) |
Q711L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,783,385 (GRCm39) |
R869H |
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,332,748 (GRCm39) |
V62A |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,334,509 (GRCm39) |
|
probably benign |
Het |
| Vmn1r17 |
C |
A |
6: 57,338,304 (GRCm39) |
M20I |
probably benign |
Het |
| Vmn1r71 |
G |
C |
7: 10,482,019 (GRCm39) |
S223C |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,417,779 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
C |
A |
5: 102,105,309 (GRCm39) |
A173S |
probably benign |
Het |
| Wdr59 |
T |
C |
8: 112,213,629 (GRCm39) |
|
probably null |
Het |
| Ythdc2 |
A |
T |
18: 44,997,424 (GRCm39) |
M994L |
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,320,120 (GRCm39) |
F450I |
probably damaging |
Het |
|
| Other mutations in Vmn2r120 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01335:Vmn2r120
|
APN |
17 |
57,832,732 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01346:Vmn2r120
|
APN |
17 |
57,852,232 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01996:Vmn2r120
|
APN |
17 |
57,832,222 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02503:Vmn2r120
|
APN |
17 |
57,816,385 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02582:Vmn2r120
|
APN |
17 |
57,831,724 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02747:Vmn2r120
|
APN |
17 |
57,831,719 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02896:Vmn2r120
|
APN |
17 |
57,816,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03139:Vmn2r120
|
APN |
17 |
57,831,742 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL03342:Vmn2r120
|
APN |
17 |
57,816,372 (GRCm39) |
missense |
probably benign |
0.03 |
|
A4554:Vmn2r120
|
UTSW |
17 |
57,832,715 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0207:Vmn2r120
|
UTSW |
17 |
57,832,052 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0517:Vmn2r120
|
UTSW |
17 |
57,815,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1109:Vmn2r120
|
UTSW |
17 |
57,832,829 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1316:Vmn2r120
|
UTSW |
17 |
57,832,939 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1543:Vmn2r120
|
UTSW |
17 |
57,829,374 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1795:Vmn2r120
|
UTSW |
17 |
57,832,038 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1850:Vmn2r120
|
UTSW |
17 |
57,832,826 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1920:Vmn2r120
|
UTSW |
17 |
57,831,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1921:Vmn2r120
|
UTSW |
17 |
57,831,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1922:Vmn2r120
|
UTSW |
17 |
57,831,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2063:Vmn2r120
|
UTSW |
17 |
57,831,553 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2064:Vmn2r120
|
UTSW |
17 |
57,831,553 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2065:Vmn2r120
|
UTSW |
17 |
57,831,553 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2067:Vmn2r120
|
UTSW |
17 |
57,831,553 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2286:Vmn2r120
|
UTSW |
17 |
57,815,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2291:Vmn2r120
|
UTSW |
17 |
57,816,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3416:Vmn2r120
|
UTSW |
17 |
57,816,241 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3874:Vmn2r120
|
UTSW |
17 |
57,831,954 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4023:Vmn2r120
|
UTSW |
17 |
57,843,718 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4024:Vmn2r120
|
UTSW |
17 |
57,843,718 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4348:Vmn2r120
|
UTSW |
17 |
57,829,466 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4409:Vmn2r120
|
UTSW |
17 |
57,816,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4610:Vmn2r120
|
UTSW |
17 |
57,816,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Vmn2r120
|
UTSW |
17 |
57,831,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4786:Vmn2r120
|
UTSW |
17 |
57,829,048 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4927:Vmn2r120
|
UTSW |
17 |
57,816,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5285:Vmn2r120
|
UTSW |
17 |
57,843,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Vmn2r120
|
UTSW |
17 |
57,852,290 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5578:Vmn2r120
|
UTSW |
17 |
57,829,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5643:Vmn2r120
|
UTSW |
17 |
57,831,977 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5644:Vmn2r120
|
UTSW |
17 |
57,831,977 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5781:Vmn2r120
|
UTSW |
17 |
57,831,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6084:Vmn2r120
|
UTSW |
17 |
57,832,721 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6120:Vmn2r120
|
UTSW |
17 |
57,832,973 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6160:Vmn2r120
|
UTSW |
17 |
57,816,418 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6248:Vmn2r120
|
UTSW |
17 |
57,852,287 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6256:Vmn2r120
|
UTSW |
17 |
57,831,700 (GRCm39) |
nonsense |
probably null |
|
|
R6730:Vmn2r120
|
UTSW |
17 |
57,832,012 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6821:Vmn2r120
|
UTSW |
17 |
57,843,659 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6868:Vmn2r120
|
UTSW |
17 |
57,852,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6880:Vmn2r120
|
UTSW |
17 |
57,816,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6986:Vmn2r120
|
UTSW |
17 |
57,816,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7276:Vmn2r120
|
UTSW |
17 |
57,831,881 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7373:Vmn2r120
|
UTSW |
17 |
57,816,406 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7653:Vmn2r120
|
UTSW |
17 |
57,816,258 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7667:Vmn2r120
|
UTSW |
17 |
57,843,657 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7775:Vmn2r120
|
UTSW |
17 |
57,832,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7778:Vmn2r120
|
UTSW |
17 |
57,832,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7797:Vmn2r120
|
UTSW |
17 |
57,815,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7824:Vmn2r120
|
UTSW |
17 |
57,832,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7902:Vmn2r120
|
UTSW |
17 |
57,816,244 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7922:Vmn2r120
|
UTSW |
17 |
57,831,683 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8508:Vmn2r120
|
UTSW |
17 |
57,832,843 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8847:Vmn2r120
|
UTSW |
17 |
57,816,217 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8882:Vmn2r120
|
UTSW |
17 |
57,852,229 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9134:Vmn2r120
|
UTSW |
17 |
57,832,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9161:Vmn2r120
|
UTSW |
17 |
57,831,864 (GRCm39) |
missense |
|
|
|
R9336:Vmn2r120
|
UTSW |
17 |
57,832,201 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
RF005:Vmn2r120
|
UTSW |
17 |
57,828,991 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Z1177:Vmn2r120
|
UTSW |
17 |
57,816,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Vmn2r120
|
UTSW |
17 |
57,829,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGTTGTTGGCTCTGAAAAcatatagacaag -3'
(R):5'- GTAAGACATTTCATCCTGGACTCATTCCAT -3'
Sequencing Primer
(F):5'- ttcctccacccacccac -3'
(R):5'- GAATTGTCCATTTTCACGGGTTTAC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation