Incidental Mutation 'R0517:Vmn2r120'
ID |
48258 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r120
|
Ensembl Gene |
ENSMUSG00000090655 |
Gene Name |
vomeronasal 2, receptor 120 |
Synonyms |
EG224916 |
MMRRC Submission |
038710-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R0517 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
57815783-57852314 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57815949 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 802
(Y802C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129296
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165781]
|
AlphaFold |
A0A3Q4EG79 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165781
AA Change: Y802C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129296 Gene: ENSMUSG00000090655 AA Change: Y802C
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.1%
|
Validation Efficiency |
100% (62/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410137M14Rik |
T |
A |
17: 37,292,024 (GRCm39) |
|
probably benign |
Het |
Acer1 |
T |
C |
17: 57,262,569 (GRCm39) |
T194A |
probably benign |
Het |
Adamts1 |
C |
A |
16: 85,597,241 (GRCm39) |
D10Y |
possibly damaging |
Het |
Adamts7 |
T |
C |
9: 90,081,911 (GRCm39) |
V1612A |
probably benign |
Het |
Adcyap1r1 |
T |
A |
6: 55,468,282 (GRCm39) |
S373T |
probably damaging |
Het |
Asic5 |
A |
T |
3: 81,916,833 (GRCm39) |
I266F |
probably benign |
Het |
Cacna1d |
A |
T |
14: 29,901,232 (GRCm39) |
I274K |
probably damaging |
Het |
Camsap2 |
G |
T |
1: 136,221,126 (GRCm39) |
Q238K |
possibly damaging |
Het |
Ceacam15 |
A |
C |
7: 16,407,445 (GRCm39) |
L24* |
probably null |
Het |
Cerk |
G |
A |
15: 86,040,849 (GRCm39) |
T170I |
probably damaging |
Het |
Cyp27b1 |
T |
C |
10: 126,885,985 (GRCm39) |
|
probably null |
Het |
Cyp2c65 |
T |
C |
19: 39,070,792 (GRCm39) |
|
probably benign |
Het |
Dennd5a |
A |
G |
7: 109,533,968 (GRCm39) |
S75P |
probably damaging |
Het |
Dhx9 |
C |
T |
1: 153,354,662 (GRCm39) |
A146T |
possibly damaging |
Het |
Dpysl5 |
A |
G |
5: 30,935,410 (GRCm39) |
D171G |
probably damaging |
Het |
Dsg3 |
A |
G |
18: 20,662,082 (GRCm39) |
N449S |
probably benign |
Het |
Eps8l3 |
T |
C |
3: 107,790,776 (GRCm39) |
S189P |
probably benign |
Het |
Exph5 |
A |
G |
9: 53,284,062 (GRCm39) |
E381G |
probably benign |
Het |
Fbxo46 |
A |
G |
7: 18,870,799 (GRCm39) |
M473V |
possibly damaging |
Het |
Fgf14 |
G |
A |
14: 124,221,196 (GRCm39) |
P203S |
probably damaging |
Het |
Foxf2 |
C |
T |
13: 31,810,226 (GRCm39) |
A55V |
unknown |
Het |
Galnt5 |
T |
G |
2: 57,925,385 (GRCm39) |
|
probably benign |
Het |
Glis2 |
T |
C |
16: 4,429,416 (GRCm39) |
L181P |
probably damaging |
Het |
Gm10000 |
T |
G |
12: 104,442,667 (GRCm39) |
|
probably benign |
Het |
Helz2 |
A |
G |
2: 180,869,563 (GRCm39) |
S2959P |
probably benign |
Het |
Hyal6 |
A |
G |
6: 24,734,852 (GRCm39) |
N262D |
probably benign |
Het |
Lgr4 |
T |
C |
2: 109,841,665 (GRCm39) |
L526P |
probably damaging |
Het |
Mapk1 |
A |
T |
16: 16,833,910 (GRCm39) |
I88F |
probably benign |
Het |
Mpg |
A |
T |
11: 32,181,853 (GRCm39) |
H287L |
probably benign |
Het |
Mpp4 |
A |
T |
1: 59,163,886 (GRCm39) |
Y489* |
probably null |
Het |
Mpzl1 |
T |
C |
1: 165,429,359 (GRCm39) |
E224G |
probably damaging |
Het |
Myh10 |
A |
G |
11: 68,702,425 (GRCm39) |
|
probably null |
Het |
Odad2 |
A |
C |
18: 7,223,621 (GRCm39) |
L474R |
probably damaging |
Het |
Or13p8 |
T |
A |
4: 118,583,831 (GRCm39) |
I129K |
probably damaging |
Het |
Or5m9 |
T |
C |
2: 85,877,548 (GRCm39) |
S241P |
probably damaging |
Het |
Paip1 |
T |
A |
13: 119,584,326 (GRCm39) |
F196I |
probably damaging |
Het |
Pde3a |
A |
T |
6: 141,444,383 (GRCm39) |
K1064* |
probably null |
Het |
Pira2 |
A |
T |
7: 3,847,196 (GRCm39) |
|
probably benign |
Het |
Pros1 |
A |
G |
16: 62,723,881 (GRCm39) |
S210G |
probably benign |
Het |
Rbm15 |
A |
T |
3: 107,238,685 (GRCm39) |
L571Q |
probably damaging |
Het |
Scn1a |
T |
A |
2: 66,132,751 (GRCm39) |
T1194S |
possibly damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Serpina1e |
G |
A |
12: 103,915,486 (GRCm39) |
T240I |
probably benign |
Het |
Setx |
T |
G |
2: 29,047,145 (GRCm39) |
S1874R |
probably benign |
Het |
Sgsm2 |
G |
T |
11: 74,758,477 (GRCm39) |
T256K |
possibly damaging |
Het |
Slc44a1 |
T |
C |
4: 53,542,366 (GRCm39) |
V300A |
probably damaging |
Het |
Spata46 |
A |
G |
1: 170,139,178 (GRCm39) |
Y59C |
probably damaging |
Het |
Supt3 |
T |
C |
17: 45,430,158 (GRCm39) |
F404L |
probably benign |
Het |
Tars1 |
T |
A |
15: 11,394,452 (GRCm39) |
K62* |
probably null |
Het |
Tas2r139 |
A |
C |
6: 42,118,425 (GRCm39) |
T186P |
probably damaging |
Het |
Tasor2 |
T |
A |
13: 3,616,964 (GRCm39) |
T2367S |
possibly damaging |
Het |
Tc2n |
C |
T |
12: 101,615,454 (GRCm39) |
S457N |
probably damaging |
Het |
Tox4 |
A |
T |
14: 52,530,085 (GRCm39) |
S582C |
probably benign |
Het |
Trappc12 |
T |
C |
12: 28,747,133 (GRCm39) |
|
probably benign |
Het |
Ubqlnl |
G |
T |
7: 103,797,845 (GRCm39) |
Q551K |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,119,435 (GRCm39) |
T205A |
probably benign |
Het |
Urb1 |
G |
A |
16: 90,574,310 (GRCm39) |
Q924* |
probably null |
Het |
Vmn1r49 |
A |
G |
6: 90,049,720 (GRCm39) |
L94P |
probably damaging |
Het |
Xrcc1 |
C |
T |
7: 24,269,744 (GRCm39) |
|
probably benign |
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 |
R0472:Vmn2r120
|
UTSW |
17 |
57,831,518 (GRCm39) |
missense |
probably benign |
0.03 |
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'- TGTGCCTCTCAGTCCTTTAAAAGAACC -3'
(R):5'- CCCAACATGGCAACTTGCATTCTAC -3'
Sequencing Primer
(F):5'- TCCTTTAAAAGAACCATTCTTAGGTC -3'
(R):5'- TTTCAGAAGCACTGTACCAGG -3'
|
Posted On |
2013-06-12 |