Incidental Mutation 'R8003:Vmn2r80'
| ID |
616462 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r80
|
| Ensembl Gene |
ENSMUSG00000091888 |
| Gene Name |
vomeronasal 2, receptor 80 |
| Synonyms |
EG624765 |
| MMRRC Submission |
046043-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R8003 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
78984650-79030767 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78984711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 21
(I21T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165834]
|
| AlphaFold |
E9Q1L0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165834
AA Change: I21T
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000132299
Gene: ENSMUSG00000091888
AA Change: I21T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
79 |
474 |
1.5e-36 |
PFAM |
|
Pfam:NCD3G
|
517 |
570 |
7.9e-22 |
PFAM |
|
Pfam:7tm_3
|
603 |
838 |
6.2e-49 |
PFAM |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
G |
14: 56,019,092 (GRCm39) |
V155A |
probably benign |
Het |
| Arfgef2 |
A |
G |
2: 166,695,208 (GRCm39) |
Y527C |
probably damaging |
Het |
| Brca1 |
C |
T |
11: 101,415,303 (GRCm39) |
G944R |
probably benign |
Het |
| C2cd2 |
A |
G |
16: 97,687,286 (GRCm39) |
|
probably null |
Het |
| Cass4 |
T |
C |
2: 172,269,879 (GRCm39) |
F654L |
unknown |
Het |
| Ccdc178 |
A |
T |
18: 21,977,944 (GRCm39) |
|
probably null |
Het |
| Cct4 |
T |
C |
11: 22,946,040 (GRCm39) |
|
probably null |
Het |
| Cish |
T |
C |
9: 107,174,227 (GRCm39) |
V5A |
possibly damaging |
Het |
| Col5a1 |
G |
A |
2: 27,848,340 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
G |
T |
1: 90,703,455 (GRCm39) |
N3037K |
unknown |
Het |
| Csmd2 |
T |
A |
4: 128,432,980 (GRCm39) |
C3012* |
probably null |
Het |
| Dclk2 |
T |
C |
3: 86,700,608 (GRCm39) |
|
probably null |
Het |
| Dhx38 |
A |
T |
8: 110,282,772 (GRCm39) |
D631E |
probably damaging |
Het |
| Eif2ak2 |
C |
A |
17: 79,183,652 (GRCm39) |
A66S |
probably damaging |
Het |
| Ephx2 |
A |
G |
14: 66,361,782 (GRCm39) |
|
probably null |
Het |
| Fbxw10 |
T |
G |
11: 62,748,587 (GRCm39) |
C405G |
possibly damaging |
Het |
| Galnt13 |
G |
T |
2: 54,950,497 (GRCm39) |
G393* |
probably null |
Het |
| Gm5591 |
G |
T |
7: 38,219,183 (GRCm39) |
H563Q |
probably damaging |
Het |
| Gtf3c5 |
A |
G |
2: 28,459,373 (GRCm39) |
I394T |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,477,581 (GRCm39) |
A2835T |
possibly damaging |
Het |
| Herc2 |
A |
G |
7: 55,818,652 (GRCm39) |
D2781G |
possibly damaging |
Het |
| Kmt2b |
G |
T |
7: 30,268,802 (GRCm39) |
H2642Q |
probably damaging |
Het |
| Lars1 |
A |
T |
18: 42,354,684 (GRCm39) |
D754E |
probably damaging |
Het |
| Lrpprc |
A |
C |
17: 85,059,745 (GRCm39) |
S690A |
probably benign |
Het |
| Map3k6 |
A |
G |
4: 132,976,193 (GRCm39) |
T805A |
probably benign |
Het |
| Mthfd1l |
T |
G |
10: 3,934,147 (GRCm39) |
S160A |
probably benign |
Het |
| Mtmr6 |
G |
A |
14: 60,519,544 (GRCm39) |
|
probably null |
Het |
| Mybpc2 |
A |
T |
7: 44,158,488 (GRCm39) |
M698K |
probably damaging |
Het |
| Myh8 |
T |
A |
11: 67,190,586 (GRCm39) |
L1304M |
probably damaging |
Het |
| Mylip |
T |
A |
13: 45,557,947 (GRCm39) |
V117E |
probably benign |
Het |
| Npc1l1 |
T |
C |
11: 6,165,129 (GRCm39) |
Q1061R |
probably benign |
Het |
| Or12e13 |
A |
G |
2: 87,664,081 (GRCm39) |
R233G |
probably benign |
Het |
| Or5d37 |
A |
T |
2: 87,923,589 (GRCm39) |
Y230* |
probably null |
Het |
| Pkd2l2 |
G |
A |
18: 34,561,232 (GRCm39) |
M413I |
probably damaging |
Het |
| Plch2 |
C |
T |
4: 155,138,980 (GRCm39) |
G19D |
unknown |
Het |
| Pramel17 |
T |
C |
4: 101,693,130 (GRCm39) |
K290R |
probably benign |
Het |
| Psg22 |
A |
C |
7: 18,458,350 (GRCm39) |
Y347S |
probably damaging |
Het |
| Ptpre |
C |
A |
7: 135,270,765 (GRCm39) |
Q314K |
probably damaging |
Het |
| Rgs6 |
T |
C |
12: 83,032,144 (GRCm39) |
S54P |
probably damaging |
Het |
| Sbds |
C |
A |
5: 130,279,726 (GRCm39) |
V130F |
possibly damaging |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slc24a2 |
A |
T |
4: 87,094,552 (GRCm39) |
D322E |
probably benign |
Het |
| Slc45a4 |
G |
T |
15: 73,457,162 (GRCm39) |
Y585* |
probably null |
Het |
| Slc7a4 |
A |
C |
16: 17,392,315 (GRCm39) |
V373G |
possibly damaging |
Het |
| Sulf1 |
G |
A |
1: 12,908,825 (GRCm39) |
V613M |
probably damaging |
Het |
| Syt1 |
T |
C |
10: 108,472,434 (GRCm39) |
D150G |
probably damaging |
Het |
| Tnpo3 |
C |
A |
6: 29,551,900 (GRCm39) |
V888F |
probably benign |
Het |
| Trim9 |
T |
C |
12: 70,393,608 (GRCm39) |
H112R |
probably benign |
Het |
| Wdr41 |
C |
A |
13: 95,149,654 (GRCm39) |
A286E |
possibly damaging |
Het |
| Wnt8b |
T |
A |
19: 44,500,396 (GRCm39) |
C328S |
probably damaging |
Het |
| Ybx3 |
A |
T |
6: 131,345,400 (GRCm39) |
Y324* |
probably null |
Het |
| Zmynd15 |
T |
A |
11: 70,351,767 (GRCm39) |
H124Q |
probably benign |
Het |
|
| Other mutations in Vmn2r80 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01084:Vmn2r80
|
APN |
10 |
79,030,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01325:Vmn2r80
|
APN |
10 |
79,030,081 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01611:Vmn2r80
|
APN |
10 |
79,007,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01799:Vmn2r80
|
APN |
10 |
79,007,385 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01877:Vmn2r80
|
APN |
10 |
79,007,334 (GRCm39) |
splice site |
probably null |
|
|
IGL02673:Vmn2r80
|
APN |
10 |
79,005,318 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02756:Vmn2r80
|
APN |
10 |
79,030,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02820:Vmn2r80
|
APN |
10 |
79,007,439 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03382:Vmn2r80
|
APN |
10 |
79,005,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0071:Vmn2r80
|
UTSW |
10 |
79,007,566 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0071:Vmn2r80
|
UTSW |
10 |
79,007,566 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0129:Vmn2r80
|
UTSW |
10 |
79,005,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0325:Vmn2r80
|
UTSW |
10 |
78,984,773 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0567:Vmn2r80
|
UTSW |
10 |
79,030,665 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1510:Vmn2r80
|
UTSW |
10 |
79,005,553 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1519:Vmn2r80
|
UTSW |
10 |
79,030,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1520:Vmn2r80
|
UTSW |
10 |
79,030,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1627:Vmn2r80
|
UTSW |
10 |
79,030,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1709:Vmn2r80
|
UTSW |
10 |
79,030,223 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2116:Vmn2r80
|
UTSW |
10 |
79,030,558 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2237:Vmn2r80
|
UTSW |
10 |
79,004,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2308:Vmn2r80
|
UTSW |
10 |
79,007,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2893:Vmn2r80
|
UTSW |
10 |
78,984,699 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3408:Vmn2r80
|
UTSW |
10 |
79,004,227 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4502:Vmn2r80
|
UTSW |
10 |
78,984,764 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4685:Vmn2r80
|
UTSW |
10 |
79,030,162 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4851:Vmn2r80
|
UTSW |
10 |
79,030,156 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4947:Vmn2r80
|
UTSW |
10 |
79,030,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5112:Vmn2r80
|
UTSW |
10 |
79,030,292 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5217:Vmn2r80
|
UTSW |
10 |
79,004,980 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5226:Vmn2r80
|
UTSW |
10 |
79,029,874 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5512:Vmn2r80
|
UTSW |
10 |
79,004,066 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5618:Vmn2r80
|
UTSW |
10 |
78,984,755 (GRCm39) |
missense |
probably benign |
|
|
R5959:Vmn2r80
|
UTSW |
10 |
79,005,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6104:Vmn2r80
|
UTSW |
10 |
78,984,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6110:Vmn2r80
|
UTSW |
10 |
79,017,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6270:Vmn2r80
|
UTSW |
10 |
79,030,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6508:Vmn2r80
|
UTSW |
10 |
79,030,290 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6843:Vmn2r80
|
UTSW |
10 |
79,005,502 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6894:Vmn2r80
|
UTSW |
10 |
79,005,438 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7048:Vmn2r80
|
UTSW |
10 |
79,030,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7149:Vmn2r80
|
UTSW |
10 |
79,030,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7262:Vmn2r80
|
UTSW |
10 |
79,005,579 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7559:Vmn2r80
|
UTSW |
10 |
79,030,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7622:Vmn2r80
|
UTSW |
10 |
79,030,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8207:Vmn2r80
|
UTSW |
10 |
79,030,150 (GRCm39) |
nonsense |
probably null |
|
|
R8330:Vmn2r80
|
UTSW |
10 |
79,007,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8337:Vmn2r80
|
UTSW |
10 |
78,984,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8354:Vmn2r80
|
UTSW |
10 |
78,984,710 (GRCm39) |
missense |
probably benign |
|
|
R8688:Vmn2r80
|
UTSW |
10 |
79,004,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8903:Vmn2r80
|
UTSW |
10 |
79,017,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9088:Vmn2r80
|
UTSW |
10 |
79,005,378 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9125:Vmn2r80
|
UTSW |
10 |
78,984,760 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9147:Vmn2r80
|
UTSW |
10 |
79,030,687 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9148:Vmn2r80
|
UTSW |
10 |
79,030,687 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9187:Vmn2r80
|
UTSW |
10 |
79,030,438 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9218:Vmn2r80
|
UTSW |
10 |
79,030,270 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9553:Vmn2r80
|
UTSW |
10 |
78,984,743 (GRCm39) |
missense |
probably benign |
|
|
R9612:Vmn2r80
|
UTSW |
10 |
79,030,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9677:Vmn2r80
|
UTSW |
10 |
78,984,672 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9769:Vmn2r80
|
UTSW |
10 |
79,005,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Vmn2r80
|
UTSW |
10 |
79,030,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Vmn2r80
|
UTSW |
10 |
79,030,232 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Z1176:Vmn2r80
|
UTSW |
10 |
79,005,311 (GRCm39) |
missense |
not run |
|
|
Z1176:Vmn2r80
|
UTSW |
10 |
79,030,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Vmn2r80
|
UTSW |
10 |
79,005,311 (GRCm39) |
missense |
not run |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGGATCCCTGAAAACGTCTC -3'
(R):5'- ATATATGGAGCCTCGTGATGAG -3'
Sequencing Primer
(F):5'- GGATCCCTGAAAACGTCTCTAGATG -3'
(R):5'- CGTGATGAGAAATACTTGGGAAAATG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation