Incidental Mutation 'R7430:Vmn2r82'
| ID |
576406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r82
|
| Ensembl Gene |
ENSMUSG00000091468 |
| Gene Name |
vomeronasal 2, receptor 82 |
| Synonyms |
EG624845 |
| MMRRC Submission |
045508-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R7430 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
79192425-79232600 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79217087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 473
(N473S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170596]
|
| AlphaFold |
G3UWA2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170596
AA Change: N473S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130114
Gene: ENSMUSG00000091468
AA Change: N473S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
79 |
474 |
6e-35 |
PFAM |
|
Pfam:NCD3G
|
517 |
570 |
9.3e-22 |
PFAM |
|
Pfam:7tm_3
|
603 |
838 |
6.5e-49 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
G |
C |
17: 24,583,932 (GRCm39) |
|
probably null |
Het |
| Ankrd17 |
C |
G |
5: 90,443,516 (GRCm39) |
E384Q |
possibly damaging |
Het |
| Atp8b4 |
A |
T |
2: 126,245,291 (GRCm39) |
V286E |
possibly damaging |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
ACTGGTTCTGTGGTC |
ACTGGTTCTGTGGTCTCTGGTTCTGTGGTC |
3: 95,795,481 (GRCm39) |
|
probably benign |
Het |
| Brms1l |
T |
C |
12: 55,892,084 (GRCm39) |
L126P |
probably damaging |
Het |
| C2cd4d |
G |
A |
3: 94,271,657 (GRCm39) |
V308M |
possibly damaging |
Het |
| Calcr |
A |
G |
6: 3,708,586 (GRCm39) |
L200S |
probably damaging |
Het |
| Card6 |
G |
T |
15: 5,128,682 (GRCm39) |
Q905K |
probably benign |
Het |
| Chka |
A |
G |
19: 3,942,787 (GRCm39) |
Y415C |
probably damaging |
Het |
| Cimap3 |
T |
C |
3: 105,921,834 (GRCm39) |
R30G |
probably benign |
Het |
| Cnih1 |
C |
T |
14: 47,017,679 (GRCm39) |
V52I |
possibly damaging |
Het |
| Cox4i1 |
T |
A |
8: 121,400,770 (GRCm39) |
M145K |
probably damaging |
Het |
| Cubn |
G |
T |
2: 13,327,804 (GRCm39) |
R2674S |
possibly damaging |
Het |
| Cyfip1 |
A |
G |
7: 55,550,341 (GRCm39) |
E692G |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,925,363 (GRCm39) |
F1266S |
probably damaging |
Het |
| Edc4 |
T |
C |
8: 106,618,216 (GRCm39) |
S1245P |
probably damaging |
Het |
| Enpp1 |
G |
T |
10: 24,587,848 (GRCm39) |
H14Q |
probably benign |
Het |
| Fam181b |
G |
A |
7: 92,729,403 (GRCm39) |
V59M |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,941,599 (GRCm39) |
I164N |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,063,793 (GRCm39) |
D4583G |
probably damaging |
Het |
| Fgb |
C |
T |
3: 82,954,014 (GRCm39) |
V75I |
probably benign |
Het |
| Fign |
T |
C |
2: 63,809,404 (GRCm39) |
D622G |
probably damaging |
Het |
| Frmd3 |
A |
G |
4: 74,063,342 (GRCm39) |
D223G |
probably damaging |
Het |
| Gclm |
G |
A |
3: 122,039,729 (GRCm39) |
R32Q |
probably benign |
Het |
| Grsf1 |
A |
T |
5: 88,811,086 (GRCm39) |
I428N |
possibly damaging |
Het |
| Hnrnpll |
T |
A |
17: 80,357,276 (GRCm39) |
I247F |
probably damaging |
Het |
| Hscb |
T |
A |
5: 110,977,024 (GRCm39) |
I223L |
probably benign |
Het |
| Ifi204 |
C |
T |
1: 173,583,247 (GRCm39) |
A324T |
probably benign |
Het |
| Itgav |
G |
A |
2: 83,624,602 (GRCm39) |
V731M |
probably damaging |
Het |
| Loricrin |
C |
T |
3: 91,989,206 (GRCm39) |
G27S |
unknown |
Het |
| Lpin3 |
A |
G |
2: 160,740,586 (GRCm39) |
D377G |
probably benign |
Het |
| Marveld3 |
A |
G |
8: 110,675,100 (GRCm39) |
S239P |
possibly damaging |
Het |
| Mast3 |
A |
C |
8: 71,232,947 (GRCm39) |
C1122G |
probably damaging |
Het |
| Ms4a4d |
A |
G |
19: 11,535,297 (GRCm39) |
I198M |
probably benign |
Het |
| Mup14 |
C |
T |
4: 61,259,447 (GRCm39) |
G35E |
probably damaging |
Het |
| Myh1 |
C |
T |
11: 67,096,393 (GRCm39) |
Q291* |
probably null |
Het |
| Myo1a |
T |
A |
10: 127,542,716 (GRCm39) |
V118E |
probably damaging |
Het |
| Nfatc3 |
A |
G |
8: 106,835,035 (GRCm39) |
T794A |
probably benign |
Het |
| Nkx6-2 |
T |
C |
7: 139,161,916 (GRCm39) |
T154A |
probably damaging |
Het |
| Or51g2 |
A |
T |
7: 102,622,969 (GRCm39) |
S77T |
probably damaging |
Het |
| Or7g16 |
T |
C |
9: 18,726,650 (GRCm39) |
*313W |
probably null |
Het |
| Ovgp1 |
G |
C |
3: 105,893,618 (GRCm39) |
A464P |
probably damaging |
Het |
| Ovgp1 |
C |
T |
3: 105,893,619 (GRCm39) |
A464V |
possibly damaging |
Het |
| Pde6c |
T |
A |
19: 38,129,887 (GRCm39) |
Y266N |
probably damaging |
Het |
| Per2 |
C |
A |
1: 91,351,705 (GRCm39) |
E934* |
probably null |
Het |
| Pgm1 |
T |
A |
4: 99,813,192 (GRCm39) |
M1K |
probably null |
Het |
| Plcb4 |
T |
C |
2: 135,810,242 (GRCm39) |
Y626H |
probably damaging |
Het |
| Postn |
T |
A |
3: 54,277,623 (GRCm39) |
V206D |
probably damaging |
Het |
| Prss29 |
T |
A |
17: 25,540,113 (GRCm39) |
|
probably null |
Het |
| Ptges3l |
C |
A |
11: 101,314,641 (GRCm39) |
V85L |
possibly damaging |
Het |
| Riok2 |
T |
C |
17: 17,607,802 (GRCm39) |
L450S |
probably benign |
Het |
| Rpap3 |
A |
T |
15: 97,586,031 (GRCm39) |
L320Q |
possibly damaging |
Het |
| Rptor |
T |
C |
11: 119,737,654 (GRCm39) |
W576R |
probably damaging |
Het |
| Sgk3 |
A |
G |
1: 9,942,483 (GRCm39) |
D85G |
probably benign |
Het |
| Slc2a1 |
A |
G |
4: 118,993,510 (GRCm39) |
Y449C |
probably damaging |
Het |
| Slco1a5 |
A |
T |
6: 142,194,438 (GRCm39) |
S402T |
probably benign |
Het |
| Smad2 |
T |
A |
18: 76,421,151 (GRCm39) |
V160E |
probably damaging |
Het |
| Snx13 |
T |
C |
12: 35,183,357 (GRCm39) |
V760A |
possibly damaging |
Het |
| Sugt1 |
T |
A |
14: 79,857,241 (GRCm39) |
|
probably null |
Het |
| Syne2 |
C |
T |
12: 75,980,770 (GRCm39) |
T1509M |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 76,087,184 (GRCm39) |
L214* |
probably null |
Het |
| Tmem120a |
T |
A |
5: 135,764,990 (GRCm39) |
|
probably null |
Het |
| Tmem161b |
A |
G |
13: 84,430,866 (GRCm39) |
|
probably null |
Het |
| Trim33 |
T |
C |
3: 103,218,219 (GRCm39) |
I256T |
possibly damaging |
Het |
| Tspan17 |
G |
A |
13: 54,943,785 (GRCm39) |
E213K |
probably benign |
Het |
| Ttc6 |
T |
A |
12: 57,704,888 (GRCm39) |
I631N |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,641,283 (GRCm39) |
L13574F |
probably damaging |
Het |
| Tufm |
A |
G |
7: 126,088,299 (GRCm39) |
D228G |
probably benign |
Het |
| Usf1 |
T |
A |
1: 171,245,295 (GRCm39) |
S236T |
probably benign |
Het |
| Usp39 |
T |
C |
6: 72,319,900 (GRCm39) |
Y106C |
probably damaging |
Het |
| Usp46 |
T |
A |
5: 74,163,849 (GRCm39) |
Y296F |
probably damaging |
Het |
| Washc5 |
A |
T |
15: 59,241,762 (GRCm39) |
Y51* |
probably null |
Het |
| Zbtb47 |
G |
A |
9: 121,592,732 (GRCm39) |
D351N |
probably benign |
Het |
| Zfp763 |
T |
A |
17: 33,238,506 (GRCm39) |
Y213F |
possibly damaging |
Het |
| Zswim5 |
A |
G |
4: 116,833,054 (GRCm39) |
T596A |
possibly damaging |
Het |
|
| Other mutations in Vmn2r82 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01800:Vmn2r82
|
APN |
10 |
79,192,581 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01860:Vmn2r82
|
APN |
10 |
79,214,691 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01927:Vmn2r82
|
APN |
10 |
79,213,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01929:Vmn2r82
|
APN |
10 |
79,214,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02028:Vmn2r82
|
APN |
10 |
79,215,057 (GRCm39) |
missense |
probably benign |
|
|
IGL02112:Vmn2r82
|
APN |
10 |
79,231,833 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02632:Vmn2r82
|
APN |
10 |
79,192,542 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02665:Vmn2r82
|
APN |
10 |
79,215,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02716:Vmn2r82
|
APN |
10 |
79,213,678 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL03030:Vmn2r82
|
APN |
10 |
79,217,149 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03190:Vmn2r82
|
APN |
10 |
79,192,643 (GRCm39) |
splice site |
probably null |
|
|
IGL03349:Vmn2r82
|
APN |
10 |
79,213,703 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL03048:Vmn2r82
|
UTSW |
10 |
79,232,460 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0080:Vmn2r82
|
UTSW |
10 |
79,232,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0193:Vmn2r82
|
UTSW |
10 |
79,217,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0217:Vmn2r82
|
UTSW |
10 |
79,214,634 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0285:Vmn2r82
|
UTSW |
10 |
79,232,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1193:Vmn2r82
|
UTSW |
10 |
79,213,739 (GRCm39) |
nonsense |
probably null |
|
|
R1385:Vmn2r82
|
UTSW |
10 |
79,232,325 (GRCm39) |
nonsense |
probably null |
|
|
R1386:Vmn2r82
|
UTSW |
10 |
79,214,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1442:Vmn2r82
|
UTSW |
10 |
79,215,201 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1467:Vmn2r82
|
UTSW |
10 |
79,232,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1467:Vmn2r82
|
UTSW |
10 |
79,232,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1518:Vmn2r82
|
UTSW |
10 |
79,214,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1538:Vmn2r82
|
UTSW |
10 |
79,192,578 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1607:Vmn2r82
|
UTSW |
10 |
79,215,253 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1812:Vmn2r82
|
UTSW |
10 |
79,215,046 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1906:Vmn2r82
|
UTSW |
10 |
79,232,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Vmn2r82
|
UTSW |
10 |
79,231,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1972:Vmn2r82
|
UTSW |
10 |
79,214,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2093:Vmn2r82
|
UTSW |
10 |
79,231,813 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2156:Vmn2r82
|
UTSW |
10 |
79,214,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2202:Vmn2r82
|
UTSW |
10 |
79,192,519 (GRCm39) |
missense |
probably benign |
|
|
R2442:Vmn2r82
|
UTSW |
10 |
79,221,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2444:Vmn2r82
|
UTSW |
10 |
79,213,702 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2857:Vmn2r82
|
UTSW |
10 |
79,217,090 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2858:Vmn2r82
|
UTSW |
10 |
79,217,090 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2884:Vmn2r82
|
UTSW |
10 |
79,232,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2886:Vmn2r82
|
UTSW |
10 |
79,232,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4369:Vmn2r82
|
UTSW |
10 |
79,231,914 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4445:Vmn2r82
|
UTSW |
10 |
79,214,874 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4589:Vmn2r82
|
UTSW |
10 |
79,192,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4703:Vmn2r82
|
UTSW |
10 |
79,214,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4908:Vmn2r82
|
UTSW |
10 |
79,214,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4937:Vmn2r82
|
UTSW |
10 |
79,215,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5199:Vmn2r82
|
UTSW |
10 |
79,231,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5391:Vmn2r82
|
UTSW |
10 |
79,192,491 (GRCm39) |
missense |
probably null |
0.01 |
|
R5601:Vmn2r82
|
UTSW |
10 |
79,232,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5635:Vmn2r82
|
UTSW |
10 |
79,214,652 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6065:Vmn2r82
|
UTSW |
10 |
79,221,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6074:Vmn2r82
|
UTSW |
10 |
79,232,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6340:Vmn2r82
|
UTSW |
10 |
79,231,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6474:Vmn2r82
|
UTSW |
10 |
79,214,871 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6995:Vmn2r82
|
UTSW |
10 |
79,232,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7111:Vmn2r82
|
UTSW |
10 |
79,214,605 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7212:Vmn2r82
|
UTSW |
10 |
79,215,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7335:Vmn2r82
|
UTSW |
10 |
79,214,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7353:Vmn2r82
|
UTSW |
10 |
79,232,452 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7354:Vmn2r82
|
UTSW |
10 |
79,192,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7362:Vmn2r82
|
UTSW |
10 |
79,232,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7378:Vmn2r82
|
UTSW |
10 |
79,232,276 (GRCm39) |
nonsense |
probably null |
|
|
R7509:Vmn2r82
|
UTSW |
10 |
79,231,842 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7874:Vmn2r82
|
UTSW |
10 |
79,232,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7943:Vmn2r82
|
UTSW |
10 |
79,232,079 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8158:Vmn2r82
|
UTSW |
10 |
79,213,636 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8324:Vmn2r82
|
UTSW |
10 |
79,214,727 (GRCm39) |
nonsense |
probably null |
|
|
R8340:Vmn2r82
|
UTSW |
10 |
79,217,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8787:Vmn2r82
|
UTSW |
10 |
79,213,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8929:Vmn2r82
|
UTSW |
10 |
79,232,541 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9018:Vmn2r82
|
UTSW |
10 |
79,232,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9399:Vmn2r82
|
UTSW |
10 |
79,214,768 (GRCm39) |
nonsense |
probably null |
|
|
R9517:Vmn2r82
|
UTSW |
10 |
79,213,641 (GRCm39) |
nonsense |
probably null |
|
|
R9587:Vmn2r82
|
UTSW |
10 |
79,214,936 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9602:Vmn2r82
|
UTSW |
10 |
79,214,880 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1088:Vmn2r82
|
UTSW |
10 |
79,192,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Vmn2r82
|
UTSW |
10 |
79,232,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Vmn2r82
|
UTSW |
10 |
79,192,429 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGTTTGGCACTGCTTGAC -3'
(R):5'- TCCACCAGAATGAGTCATCAGC -3'
Sequencing Primer
(F):5'- TGGCACTGCTTGACAAATTATATTC -3'
(R):5'- TGTGGTCAATAATACCAACCAAGAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation