Incidental Mutation 'R5285:Vmn2r120'
ID |
403021 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r120
|
Ensembl Gene |
ENSMUSG00000090655 |
Gene Name |
vomeronasal 2, receptor 120 |
Synonyms |
EG224916 |
MMRRC Submission |
042869-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R5285 (G1)
|
Quality Score |
173 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
57815783-57852314 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57843703 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 47
(L47P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129296
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165781]
|
AlphaFold |
A0A3Q4EG79 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165781
AA Change: L47P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129296 Gene: ENSMUSG00000090655 AA Change: L47P
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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
98% (65/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405L10Rik |
A |
G |
8: 106,435,097 (GRCm39) |
T12A |
probably benign |
Het |
Acbd6 |
T |
A |
1: 155,434,471 (GRCm39) |
S30T |
probably benign |
Het |
Adcy8 |
G |
T |
15: 64,639,706 (GRCm39) |
H685N |
possibly damaging |
Het |
Aldh1l1 |
A |
T |
6: 90,553,752 (GRCm39) |
K539* |
probably null |
Het |
Ap1m2 |
G |
T |
9: 21,216,933 (GRCm39) |
Y134* |
probably null |
Het |
Apobr |
A |
G |
7: 126,184,175 (GRCm39) |
|
probably benign |
Het |
Atl1 |
A |
G |
12: 70,001,273 (GRCm39) |
K345R |
probably benign |
Het |
Avil |
T |
C |
10: 126,854,328 (GRCm39) |
L765P |
probably damaging |
Het |
Caps2 |
T |
A |
10: 112,044,216 (GRCm39) |
Y472N |
probably benign |
Het |
Catspere2 |
A |
G |
1: 177,931,454 (GRCm39) |
K458E |
unknown |
Het |
Cd177 |
A |
T |
7: 24,445,674 (GRCm39) |
S590T |
probably benign |
Het |
Cep295 |
T |
C |
9: 15,233,887 (GRCm39) |
D2223G |
probably benign |
Het |
Cfh |
T |
C |
1: 140,028,636 (GRCm39) |
T493A |
probably benign |
Het |
Chek1 |
T |
C |
9: 36,625,748 (GRCm39) |
D299G |
probably benign |
Het |
Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
Crhr1 |
A |
T |
11: 104,061,323 (GRCm39) |
I243F |
possibly damaging |
Het |
Cyp3a11 |
A |
G |
5: 145,791,893 (GRCm39) |
V500A |
probably benign |
Het |
Dcdc5 |
A |
T |
2: 106,198,500 (GRCm39) |
|
noncoding transcript |
Het |
Ergic3 |
A |
G |
2: 155,859,957 (GRCm39) |
|
probably benign |
Het |
Fabp3-ps1 |
T |
G |
10: 86,568,066 (GRCm39) |
|
probably benign |
Het |
Gm6445 |
C |
A |
19: 9,585,032 (GRCm39) |
|
noncoding transcript |
Het |
Gucy2d |
C |
A |
7: 98,107,474 (GRCm39) |
|
probably null |
Het |
Ighv1-19-1 |
C |
A |
12: 114,667,872 (GRCm39) |
|
probably benign |
Het |
Igkv2-116 |
G |
T |
6: 68,129,463 (GRCm39) |
R75L |
probably benign |
Het |
Inhbc |
C |
A |
10: 127,193,269 (GRCm39) |
R249L |
probably damaging |
Het |
Lrrn2 |
T |
A |
1: 132,866,983 (GRCm39) |
S683T |
possibly damaging |
Het |
Lyst |
T |
C |
13: 13,809,011 (GRCm39) |
V227A |
probably benign |
Het |
Mroh5 |
TGGAG |
TG |
15: 73,654,923 (GRCm39) |
|
probably benign |
Het |
Msh4 |
T |
C |
3: 153,579,350 (GRCm39) |
N587S |
probably benign |
Het |
Mug1 |
G |
A |
6: 121,818,066 (GRCm39) |
E126K |
probably benign |
Het |
Nav2 |
T |
C |
7: 49,197,982 (GRCm39) |
S1204P |
probably damaging |
Het |
Ncor1 |
A |
G |
11: 62,283,475 (GRCm39) |
I413T |
probably damaging |
Het |
Nipa2 |
A |
T |
7: 55,582,760 (GRCm39) |
Y328* |
probably null |
Het |
Or1e25 |
T |
A |
11: 73,493,767 (GRCm39) |
Y120* |
probably null |
Het |
Or51a24 |
A |
G |
7: 103,733,340 (GRCm39) |
*316R |
probably null |
Het |
Or52s1 |
C |
T |
7: 102,862,005 (GRCm39) |
R302* |
probably null |
Het |
Or5k15 |
A |
T |
16: 58,710,471 (GRCm39) |
Y37* |
probably null |
Het |
Or5k3 |
T |
C |
16: 58,969,633 (GRCm39) |
L140P |
probably damaging |
Het |
Pla2g4e |
T |
C |
2: 120,019,985 (GRCm39) |
D155G |
probably damaging |
Het |
Plxnb1 |
C |
T |
9: 108,937,527 (GRCm39) |
T1176I |
probably damaging |
Het |
Polg |
A |
G |
7: 79,114,973 (GRCm39) |
|
probably benign |
Het |
Prl8a2 |
G |
A |
13: 27,534,116 (GRCm39) |
|
probably null |
Het |
Prmt7 |
G |
A |
8: 106,974,991 (GRCm39) |
R529Q |
probably benign |
Het |
Psg17 |
T |
A |
7: 18,554,126 (GRCm39) |
L41F |
probably benign |
Het |
Rad18 |
T |
C |
6: 112,663,726 (GRCm39) |
R73G |
probably benign |
Het |
Rhpn2 |
G |
T |
7: 35,080,990 (GRCm39) |
|
probably benign |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Sarm1 |
A |
G |
11: 78,388,265 (GRCm39) |
F7S |
probably benign |
Het |
Sgip1 |
T |
A |
4: 102,778,674 (GRCm39) |
|
probably benign |
Het |
Sh3gl2 |
A |
G |
4: 85,294,686 (GRCm39) |
K99R |
probably benign |
Het |
Sorbs1 |
G |
A |
19: 40,310,334 (GRCm39) |
T1018I |
probably damaging |
Het |
Spns2 |
G |
A |
11: 72,380,305 (GRCm39) |
A106V |
possibly damaging |
Het |
Stab1 |
A |
G |
14: 30,865,433 (GRCm39) |
|
probably benign |
Het |
Steap3 |
T |
C |
1: 120,169,610 (GRCm39) |
D191G |
probably damaging |
Het |
Stxbp5 |
T |
C |
10: 9,674,019 (GRCm39) |
|
probably null |
Het |
Sycp2 |
A |
T |
2: 178,034,191 (GRCm39) |
|
probably null |
Het |
Tm6sf1 |
A |
G |
7: 81,509,200 (GRCm39) |
S2G |
possibly damaging |
Het |
Usp24 |
T |
A |
4: 106,264,230 (GRCm39) |
D1720E |
probably benign |
Het |
Vmn1r200 |
G |
A |
13: 22,579,457 (GRCm39) |
E78K |
possibly damaging |
Het |
Vmn2r14 |
T |
C |
5: 109,365,442 (GRCm39) |
N544S |
probably damaging |
Het |
Vwa1 |
C |
T |
4: 155,855,352 (GRCm39) |
A254T |
probably benign |
Het |
Zfp7 |
G |
A |
15: 76,775,422 (GRCm39) |
R488Q |
probably damaging |
Het |
Zfp940 |
A |
T |
7: 29,545,025 (GRCm39) |
L294H |
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 |
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 |
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 |
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'- TTTCAACACATGGTGCTGGTT -3'
(R):5'- GCATCTGCTGTCACCTGAG -3'
Sequencing Primer
(F):5'- GTCGATGTGGATCAAAAGCCTCC -3'
(R):5'- AGGTGCTTCTAGACTCTCCATG -3'
|
Posted On |
2016-07-22 |