Incidental Mutation 'R1518:Vmn2r82'
| ID |
167204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r82
|
| Ensembl Gene |
ENSMUSG00000091468 |
| Gene Name |
vomeronasal 2, receptor 82 |
| Synonyms |
EG624845 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R1518 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
79192425-79232600 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79214702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 228
(L228F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170596]
|
| AlphaFold |
G3UWA2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170596
AA Change: L228F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130114
Gene: ENSMUSG00000091468
AA Change: L228F
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
T |
A |
9: 44,186,666 (GRCm39) |
M493L |
probably benign |
Het |
| Abtb2 |
G |
A |
2: 103,539,629 (GRCm39) |
V665I |
probably benign |
Het |
| Adamtsl1 |
C |
G |
4: 86,260,840 (GRCm39) |
S1017W |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,821,469 (GRCm39) |
T623A |
possibly damaging |
Het |
| Alox5 |
A |
G |
6: 116,390,741 (GRCm39) |
F470S |
probably damaging |
Het |
| Angpt2 |
T |
C |
8: 18,755,855 (GRCm39) |
E204G |
probably benign |
Het |
| Apip |
A |
G |
2: 102,919,838 (GRCm39) |
E138G |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,039,207 (GRCm39) |
T466M |
probably benign |
Het |
| Atp2b3 |
GACAACA |
GACA |
X: 72,588,729 (GRCm39) |
|
probably benign |
Het |
| Atxn7l3 |
A |
T |
11: 102,185,340 (GRCm39) |
D56E |
probably benign |
Het |
| Cacna1s |
C |
T |
1: 136,026,289 (GRCm39) |
A1092V |
probably damaging |
Het |
| Calr3 |
A |
G |
8: 73,181,044 (GRCm39) |
F183L |
probably damaging |
Het |
| Cd300lb |
T |
A |
11: 114,816,877 (GRCm39) |
D55V |
probably benign |
Het |
| Chid1 |
A |
C |
7: 141,108,384 (GRCm39) |
V145G |
probably damaging |
Het |
| Chst15 |
T |
C |
7: 131,871,855 (GRCm39) |
N142S |
probably damaging |
Het |
| Cnot4 |
C |
T |
6: 35,028,389 (GRCm39) |
R409Q |
probably damaging |
Het |
| Cope |
T |
G |
8: 70,765,411 (GRCm39) |
I287S |
possibly damaging |
Het |
| Cpd |
A |
T |
11: 76,731,212 (GRCm39) |
|
probably null |
Het |
| Cux1 |
G |
T |
5: 136,337,133 (GRCm39) |
T785K |
probably benign |
Het |
| Dennd2b |
A |
G |
7: 109,156,562 (GRCm39) |
S63P |
probably damaging |
Het |
| Dthd1 |
T |
C |
5: 62,979,383 (GRCm39) |
S348P |
probably damaging |
Het |
| Eno3 |
G |
T |
11: 70,551,903 (GRCm39) |
E64* |
probably null |
Het |
| Entpd1 |
T |
A |
19: 40,713,507 (GRCm39) |
Y184* |
probably null |
Het |
| Erv3 |
A |
T |
2: 131,698,083 (GRCm39) |
M92K |
probably benign |
Het |
| Flg2 |
T |
A |
3: 93,110,445 (GRCm39) |
H824Q |
unknown |
Het |
| Fndc9 |
G |
A |
11: 46,128,930 (GRCm39) |
G150S |
probably benign |
Het |
| Gdap1 |
G |
A |
1: 17,217,169 (GRCm39) |
V43I |
possibly damaging |
Het |
| Ifi213 |
C |
A |
1: 173,417,229 (GRCm39) |
L394F |
probably damaging |
Het |
| Ift88 |
A |
G |
14: 57,668,085 (GRCm39) |
T29A |
possibly damaging |
Het |
| Kdm4c |
A |
T |
4: 74,252,063 (GRCm39) |
I437L |
probably benign |
Het |
| Kras |
T |
A |
6: 145,177,977 (GRCm39) |
E98D |
probably benign |
Het |
| Lcorl |
C |
A |
5: 45,891,543 (GRCm39) |
R353I |
possibly damaging |
Het |
| Lrrc4c |
A |
G |
2: 97,460,921 (GRCm39) |
I516V |
probably benign |
Het |
| Lrrc51 |
T |
C |
7: 101,564,803 (GRCm39) |
D85G |
probably damaging |
Het |
| Lypd6b |
G |
A |
2: 49,837,504 (GRCm39) |
A159T |
probably damaging |
Het |
| Magel2 |
G |
A |
7: 62,030,188 (GRCm39) |
V1031I |
unknown |
Het |
| Man1c1 |
A |
T |
4: 134,308,100 (GRCm39) |
N338K |
probably benign |
Het |
| Mdn1 |
C |
A |
4: 32,739,977 (GRCm39) |
Q3744K |
probably damaging |
Het |
| Micu3 |
G |
T |
8: 40,788,893 (GRCm39) |
A135S |
possibly damaging |
Het |
| Muc4 |
T |
C |
16: 32,569,167 (GRCm39) |
S76P |
possibly damaging |
Het |
| Nin |
T |
G |
12: 70,061,547 (GRCm39) |
T2106P |
probably benign |
Het |
| Nlrp4e |
T |
C |
7: 23,021,268 (GRCm39) |
I585T |
probably benign |
Het |
| Npy1r |
C |
T |
8: 67,156,847 (GRCm39) |
A89V |
probably benign |
Het |
| Or11g27 |
T |
C |
14: 50,771,622 (GRCm39) |
V251A |
probably damaging |
Het |
| Or4c115 |
G |
A |
2: 88,927,944 (GRCm39) |
A109V |
probably benign |
Het |
| Or52ae7 |
T |
A |
7: 103,119,249 (GRCm39) |
M1K |
probably null |
Het |
| Or52n3 |
T |
A |
7: 104,530,515 (GRCm39) |
Y200* |
probably null |
Het |
| Or5w13 |
A |
T |
2: 87,523,872 (GRCm39) |
M118K |
probably damaging |
Het |
| Parp14 |
T |
G |
16: 35,677,008 (GRCm39) |
T987P |
possibly damaging |
Het |
| Pde7b |
A |
T |
10: 20,423,867 (GRCm39) |
V3E |
probably damaging |
Het |
| Pdlim7 |
G |
T |
13: 55,656,107 (GRCm39) |
Y104* |
probably null |
Het |
| Pgm2l1 |
A |
G |
7: 99,910,932 (GRCm39) |
K292R |
probably benign |
Het |
| Plec |
T |
C |
15: 76,072,401 (GRCm39) |
E728G |
probably damaging |
Het |
| Plppr4 |
T |
C |
3: 117,129,152 (GRCm39) |
Y105C |
probably damaging |
Het |
| Polr1c |
A |
T |
17: 46,558,821 (GRCm39) |
N23K |
possibly damaging |
Het |
| Ppp5c |
A |
T |
7: 16,743,861 (GRCm39) |
M191K |
probably damaging |
Het |
| Prkca |
T |
C |
11: 107,869,142 (GRCm39) |
D57G |
probably damaging |
Het |
| Prkcb |
A |
G |
7: 122,143,854 (GRCm39) |
|
probably null |
Het |
| Prl6a1 |
A |
T |
13: 27,502,911 (GRCm39) |
Q169L |
probably null |
Het |
| Prl6a1 |
C |
A |
13: 27,502,910 (GRCm39) |
Q169K |
possibly damaging |
Het |
| Psmd14 |
G |
A |
2: 61,591,335 (GRCm39) |
R46H |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Ramp2 |
A |
G |
11: 101,138,408 (GRCm39) |
T22A |
probably benign |
Het |
| Rbm19 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
5: 120,278,345 (GRCm39) |
|
probably benign |
Het |
| Rbm25 |
A |
T |
12: 83,715,219 (GRCm39) |
E463D |
possibly damaging |
Het |
| Retnlb |
A |
G |
16: 48,637,678 (GRCm39) |
I35V |
probably benign |
Het |
| Sestd1 |
A |
G |
2: 77,071,976 (GRCm39) |
Y49H |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,431,306 (GRCm39) |
I2378N |
probably damaging |
Het |
| Slc26a1 |
A |
T |
5: 108,819,740 (GRCm39) |
C486* |
probably null |
Het |
| Spef2 |
T |
A |
15: 9,667,316 (GRCm39) |
I791F |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,650,798 (GRCm39) |
T1726A |
possibly damaging |
Het |
| Stk38l |
T |
A |
6: 146,673,129 (GRCm39) |
M296K |
probably benign |
Het |
| Taf5 |
T |
C |
19: 47,070,285 (GRCm39) |
F624L |
probably damaging |
Het |
| Tmem30c |
G |
T |
16: 57,086,855 (GRCm39) |
T316K |
probably damaging |
Het |
| Trpm2 |
A |
G |
10: 77,778,839 (GRCm39) |
S376P |
possibly damaging |
Het |
| Zfp607b |
G |
A |
7: 27,398,087 (GRCm39) |
C57Y |
possibly damaging |
Het |
| Zfp983 |
A |
G |
17: 21,881,269 (GRCm39) |
H399R |
probably damaging |
Het |
| Zfp984 |
A |
T |
4: 147,840,002 (GRCm39) |
M283K |
probably benign |
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 |
|
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 |
|
|
R7430:Vmn2r82
|
UTSW |
10 |
79,217,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GGGCCTTTTGATCCTGTTCAGATTGATA -3'
(R):5'- GGGCCACTGCATACACAGCATTATAC -3'
Sequencing Primer
(F):5'- CCTGTTCAGATTGATAGAAACCAG -3'
(R):5'- AGCAATCTCCTCATAATGGGGTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation