Incidental Mutation 'R7824:Vmn2r120'
ID |
602102 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r120
|
Ensembl Gene |
ENSMUSG00000090655 |
Gene Name |
vomeronasal 2, receptor 120 |
Synonyms |
EG224916 |
MMRRC Submission |
045878-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R7824 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
57815783-57852314 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57832942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 79
(Y79C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129296
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165781]
|
AlphaFold |
A0A3Q4EG79 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165781
AA Change: Y79C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129296 Gene: ENSMUSG00000090655 AA Change: Y79C
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (65/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apol7a |
T |
C |
15: 77,273,275 (GRCm39) |
R396G |
probably damaging |
Het |
Arhgap40 |
A |
T |
2: 158,376,666 (GRCm39) |
R267S |
probably damaging |
Het |
Asb5 |
A |
C |
8: 55,037,827 (GRCm39) |
H173P |
|
Het |
Atp6v0a2 |
A |
G |
5: 124,779,443 (GRCm39) |
E186G |
probably damaging |
Het |
Bbs2 |
A |
T |
8: 94,816,388 (GRCm39) |
|
probably null |
Het |
Bub1b |
T |
G |
2: 118,457,448 (GRCm39) |
|
probably null |
Het |
Capn7 |
A |
G |
14: 31,074,367 (GRCm39) |
T257A |
probably benign |
Het |
Chrna6 |
T |
C |
8: 27,897,392 (GRCm39) |
I162V |
probably damaging |
Het |
Cldn6 |
T |
A |
17: 23,900,581 (GRCm39) |
C182S |
probably damaging |
Het |
Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
Cysltr2 |
A |
G |
14: 73,267,203 (GRCm39) |
I169T |
probably benign |
Het |
Ddx11 |
T |
C |
17: 66,437,543 (GRCm39) |
|
probably null |
Het |
Efhc1 |
A |
T |
1: 21,049,685 (GRCm39) |
Y515F |
probably damaging |
Het |
Farsb |
T |
C |
1: 78,445,936 (GRCm39) |
N148D |
probably benign |
Het |
Fmnl2 |
C |
T |
2: 52,963,692 (GRCm39) |
L275F |
unknown |
Het |
Gfpt2 |
T |
G |
11: 49,715,268 (GRCm39) |
I421R |
probably damaging |
Het |
Gm8297 |
A |
G |
14: 16,167,939 (GRCm39) |
N193S |
possibly damaging |
Het |
Hic1 |
C |
T |
11: 75,057,042 (GRCm39) |
V616M |
possibly damaging |
Het |
Ica1l |
T |
G |
1: 60,047,029 (GRCm39) |
M241L |
probably benign |
Het |
Ighg3 |
A |
T |
12: 113,323,426 (GRCm39) |
D283E |
|
Het |
Ing1 |
A |
G |
8: 11,611,814 (GRCm39) |
E178G |
probably benign |
Het |
Ism2 |
A |
C |
12: 87,326,634 (GRCm39) |
V435G |
probably damaging |
Het |
Klhdc2 |
A |
G |
12: 69,354,002 (GRCm39) |
H271R |
probably damaging |
Het |
Lama1 |
T |
A |
17: 68,111,468 (GRCm39) |
S2240T |
|
Het |
Lrp2 |
T |
A |
2: 69,331,883 (GRCm39) |
E1624V |
possibly damaging |
Het |
Map3k21 |
C |
G |
8: 126,637,702 (GRCm39) |
P96R |
probably benign |
Het |
Mfge8 |
G |
T |
7: 78,795,135 (GRCm39) |
|
probably null |
Het |
Mical2 |
T |
A |
7: 112,006,844 (GRCm39) |
Y588N |
probably damaging |
Het |
Mrps15 |
A |
T |
4: 125,945,170 (GRCm39) |
N119I |
probably damaging |
Het |
Mybpc2 |
G |
A |
7: 44,154,284 (GRCm39) |
|
probably null |
Het |
Myo9a |
T |
A |
9: 59,767,392 (GRCm39) |
H865Q |
probably damaging |
Het |
Odf4 |
A |
T |
11: 68,812,898 (GRCm39) |
S253R |
probably benign |
Het |
Or6c5c |
A |
G |
10: 129,298,665 (GRCm39) |
N40S |
probably damaging |
Het |
Ovch2 |
A |
G |
7: 107,388,295 (GRCm39) |
|
probably null |
Het |
Pax8 |
A |
G |
2: 24,325,913 (GRCm39) |
S324P |
possibly damaging |
Het |
Plau |
A |
G |
14: 20,892,393 (GRCm39) |
S393G |
probably benign |
Het |
Primpol |
G |
T |
8: 47,039,459 (GRCm39) |
P387Q |
probably damaging |
Het |
Prph2 |
T |
C |
17: 47,221,732 (GRCm39) |
L37S |
possibly damaging |
Het |
Rapgefl1 |
A |
G |
11: 98,741,980 (GRCm39) |
N648S |
probably damaging |
Het |
Rin2 |
T |
A |
2: 145,703,037 (GRCm39) |
S533T |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Setd6 |
A |
T |
8: 96,442,866 (GRCm39) |
H101L |
probably benign |
Het |
Sez6 |
T |
C |
11: 77,865,375 (GRCm39) |
S671P |
probably damaging |
Het |
Slc22a3 |
G |
T |
17: 12,683,350 (GRCm39) |
A171E |
probably damaging |
Het |
Son |
T |
C |
16: 91,453,416 (GRCm39) |
L721S |
probably damaging |
Het |
Spata31d1b |
A |
T |
13: 59,865,047 (GRCm39) |
R732W |
possibly damaging |
Het |
Speg |
T |
A |
1: 75,360,661 (GRCm39) |
|
probably null |
Het |
Srd5a3 |
T |
A |
5: 76,302,618 (GRCm39) |
F328I |
probably damaging |
Het |
Tbc1d2 |
C |
T |
4: 46,637,746 (GRCm39) |
|
probably null |
Het |
Tfap2b |
G |
A |
1: 19,304,531 (GRCm39) |
G447D |
probably damaging |
Het |
Thoc3 |
A |
C |
13: 54,611,591 (GRCm39) |
F232C |
probably damaging |
Het |
Togaram2 |
T |
A |
17: 72,011,746 (GRCm39) |
M476K |
probably benign |
Het |
Tpgs2 |
G |
T |
18: 25,262,922 (GRCm39) |
F232L |
probably benign |
Het |
Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
Tube1 |
A |
G |
10: 39,018,294 (GRCm39) |
I124V |
probably benign |
Het |
Ubr5 |
A |
T |
15: 37,991,566 (GRCm39) |
H1992Q |
probably damaging |
Het |
Utrn |
G |
A |
10: 12,362,354 (GRCm39) |
R2660C |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,836,773 (GRCm39) |
T2924A |
probably damaging |
Het |
Vwa8 |
T |
C |
14: 79,275,587 (GRCm39) |
V790A |
probably benign |
Het |
Vwf |
A |
G |
6: 125,635,778 (GRCm39) |
K270E |
|
Het |
Zfp874b |
A |
G |
13: 67,622,093 (GRCm39) |
F402L |
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 |
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 |
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'- ATGATGTTCCTGTCACTACTGC -3'
(R):5'- GGAGGAATGGTCTGATGAATCC -3'
Sequencing Primer
(F):5'- TCCTGTCACTACTGCTATTAATTTTG -3'
(R):5'- CTGATGAATCCACAAAAGGCTAGGTC -3'
|
Posted On |
2019-12-03 |