Incidental Mutation 'R1922:Vmn2r120'
ID |
213192 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r120
|
Ensembl Gene |
ENSMUSG00000090655 |
Gene Name |
vomeronasal 2, receptor 120 |
Synonyms |
EG224916 |
MMRRC Submission |
039940-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R1922 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
57815783-57852314 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 57831839 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 317
(I317F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129296
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165781]
|
AlphaFold |
A0A3Q4EG79 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000165781
AA Change: I317F
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000129296 Gene: ENSMUSG00000090655 AA Change: I317F
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: 97.5%
- 3x: 97.1%
- 10x: 95.8%
- 20x: 93.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
G |
T |
1: 71,359,083 (GRCm39) |
N574K |
probably benign |
Het |
Adcy9 |
A |
T |
16: 4,129,521 (GRCm39) |
L455H |
probably damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Amy1 |
T |
A |
3: 113,358,544 (GRCm39) |
I163F |
probably damaging |
Het |
Aoc1l2 |
A |
C |
6: 48,908,220 (GRCm39) |
I407L |
probably benign |
Het |
Armc5 |
A |
G |
7: 127,839,677 (GRCm39) |
S332G |
probably benign |
Het |
Brd4 |
T |
C |
17: 32,417,060 (GRCm39) |
|
probably benign |
Het |
Cadps |
T |
C |
14: 12,465,859 (GRCm38) |
K1017R |
possibly damaging |
Het |
Cfap45 |
A |
G |
1: 172,372,679 (GRCm39) |
E458G |
probably damaging |
Het |
Chrna1 |
A |
G |
2: 73,398,576 (GRCm39) |
S288P |
probably damaging |
Het |
Cpe |
T |
A |
8: 65,070,723 (GRCm39) |
D174V |
probably benign |
Het |
Dclre1c |
T |
C |
2: 3,441,819 (GRCm39) |
F235L |
possibly damaging |
Het |
Ddx20 |
A |
T |
3: 105,585,900 (GRCm39) |
V815D |
probably damaging |
Het |
Dhx9 |
T |
C |
1: 153,336,020 (GRCm39) |
|
probably null |
Het |
Dmxl2 |
A |
C |
9: 54,308,807 (GRCm39) |
H1981Q |
probably benign |
Het |
Doc2a |
A |
C |
7: 126,450,603 (GRCm39) |
D293A |
probably damaging |
Het |
Eif2a |
C |
T |
3: 58,455,951 (GRCm39) |
R317C |
probably damaging |
Het |
Fancc |
A |
G |
13: 63,478,381 (GRCm39) |
V318A |
possibly damaging |
Het |
Fes |
A |
T |
7: 80,033,734 (GRCm39) |
Y172* |
probably null |
Het |
Gipc3 |
T |
A |
10: 81,174,049 (GRCm39) |
I242F |
probably damaging |
Het |
Glul |
G |
A |
1: 153,783,070 (GRCm39) |
M214I |
probably benign |
Het |
Gm14496 |
A |
G |
2: 181,642,797 (GRCm39) |
I823V |
probably benign |
Het |
Gm6665 |
T |
C |
18: 31,953,318 (GRCm39) |
N50S |
probably benign |
Het |
Gm6729 |
T |
C |
10: 86,376,782 (GRCm39) |
|
noncoding transcript |
Het |
Gpr21 |
T |
A |
2: 37,408,350 (GRCm39) |
C299S |
probably damaging |
Het |
Hapln2 |
T |
A |
3: 87,930,684 (GRCm39) |
N196Y |
probably benign |
Het |
Hsd17b12 |
A |
G |
2: 93,875,737 (GRCm39) |
V196A |
probably benign |
Het |
Kalrn |
A |
T |
16: 34,212,463 (GRCm39) |
D28E |
probably benign |
Het |
Kansl1 |
A |
T |
11: 104,234,466 (GRCm39) |
L680Q |
probably damaging |
Het |
Kcna3 |
T |
C |
3: 106,945,251 (GRCm39) |
S505P |
possibly damaging |
Het |
Klra1 |
A |
C |
6: 130,349,828 (GRCm39) |
N203K |
probably benign |
Het |
L3mbtl2 |
T |
A |
15: 81,559,822 (GRCm39) |
I236N |
probably damaging |
Het |
Mcm3ap |
C |
A |
10: 76,343,195 (GRCm39) |
P1696T |
probably damaging |
Het |
Mecom |
T |
C |
3: 30,011,591 (GRCm39) |
D647G |
probably damaging |
Het |
Mn1 |
A |
G |
5: 111,566,612 (GRCm39) |
D194G |
probably damaging |
Het |
Muc5ac |
A |
G |
7: 141,347,426 (GRCm39) |
N407S |
probably benign |
Het |
Mx2 |
C |
T |
16: 97,361,551 (GRCm39) |
R584C |
probably benign |
Het |
Myo1c |
A |
G |
11: 75,559,055 (GRCm39) |
R597G |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,541,467 (GRCm39) |
D1932G |
probably benign |
Het |
Nwd2 |
T |
A |
5: 63,951,585 (GRCm39) |
D205E |
probably benign |
Het |
Obi1 |
T |
C |
14: 104,716,622 (GRCm39) |
K584E |
probably benign |
Het |
Or7a37 |
T |
A |
10: 78,805,975 (GRCm39) |
L164* |
probably null |
Het |
Or8b38 |
T |
C |
9: 37,972,981 (GRCm39) |
Y122H |
probably damaging |
Het |
Osmr |
T |
C |
15: 6,873,848 (GRCm39) |
E183G |
possibly damaging |
Het |
Peak1 |
A |
T |
9: 56,113,971 (GRCm39) |
W627R |
probably damaging |
Het |
Pkd1 |
C |
A |
17: 24,814,131 (GRCm39) |
P4167Q |
probably damaging |
Het |
Plekhg4 |
T |
A |
8: 106,105,017 (GRCm39) |
L560Q |
probably damaging |
Het |
Prg4 |
C |
T |
1: 150,325,750 (GRCm39) |
W1217* |
probably null |
Het |
Prkdc |
A |
G |
16: 15,532,130 (GRCm39) |
I1465V |
probably benign |
Het |
Pus1 |
A |
G |
5: 110,925,505 (GRCm39) |
F105S |
probably damaging |
Het |
Ranbp3l |
T |
C |
15: 9,057,206 (GRCm39) |
S154P |
probably damaging |
Het |
Rhbdl1 |
C |
T |
17: 26,054,513 (GRCm39) |
G211S |
probably damaging |
Het |
Rrp36 |
C |
T |
17: 46,983,671 (GRCm39) |
R47Q |
possibly damaging |
Het |
Rtp1 |
T |
A |
16: 23,250,160 (GRCm39) |
I175N |
probably damaging |
Het |
Sash1 |
T |
A |
10: 8,603,672 (GRCm39) |
N1127Y |
possibly damaging |
Het |
Setbp1 |
C |
T |
18: 78,901,577 (GRCm39) |
E697K |
possibly damaging |
Het |
Slc27a3 |
A |
T |
3: 90,293,624 (GRCm39) |
V587E |
probably benign |
Het |
Slc38a2 |
A |
G |
15: 96,589,043 (GRCm39) |
F454L |
possibly damaging |
Het |
Sprn |
A |
T |
7: 139,733,458 (GRCm39) |
|
probably benign |
Het |
St14 |
A |
G |
9: 31,001,166 (GRCm39) |
V855A |
possibly damaging |
Het |
Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
Tbc1d1 |
A |
G |
5: 64,468,564 (GRCm39) |
E732G |
probably damaging |
Het |
Tnfaip3 |
A |
G |
10: 18,879,355 (GRCm39) |
F671S |
possibly damaging |
Het |
Tor1aip2 |
C |
A |
1: 155,940,540 (GRCm39) |
P282Q |
probably damaging |
Het |
Ttc7b |
C |
T |
12: 100,381,389 (GRCm39) |
|
probably null |
Het |
Ttll2 |
A |
T |
17: 7,619,789 (GRCm39) |
F46Y |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,564,494 (GRCm39) |
S28548P |
probably damaging |
Het |
Tubb5 |
T |
C |
17: 36,146,190 (GRCm39) |
Y340C |
probably benign |
Het |
Usp32 |
A |
T |
11: 84,897,830 (GRCm39) |
C1170* |
probably null |
Het |
Usp54 |
G |
T |
14: 20,610,972 (GRCm39) |
H1281Q |
probably benign |
Het |
Vgll4 |
C |
T |
6: 114,898,296 (GRCm39) |
G22S |
probably benign |
Het |
Zdhhc5 |
A |
T |
2: 84,523,771 (GRCm39) |
F225Y |
probably damaging |
Het |
Zfp652 |
A |
G |
11: 95,654,851 (GRCm39) |
E418G |
possibly 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 |
R0472:Vmn2r120
|
UTSW |
17 |
57,831,518 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
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'- TCGGTGCCAAGGTAACAATGC -3'
(R):5'- TGATCTGCTCAGCACTGATCC -3'
Sequencing Primer
(F):5'- TGCCAAGGATCCATTGGATG -3'
(R):5'- ACTGATCCTGCAATCATGGG -3'
|
Posted On |
2014-07-14 |