Incidental Mutation 'R8337:Vmn2r80'
ID |
644683 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r80
|
Ensembl Gene |
ENSMUSG00000091888 |
Gene Name |
vomeronasal 2, receptor 80 |
Synonyms |
EG624765 |
MMRRC Submission |
067800-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R8337 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
78984650-79030767 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 78984707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 20
(I20V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165834]
|
AlphaFold |
E9Q1L0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000165834
AA Change: I20V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000132299 Gene: ENSMUSG00000091888 AA Change: I20V
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310034C09Rik |
T |
C |
16: 88,556,151 (GRCm39) |
Y122H |
probably damaging |
Het |
Abhd14b |
T |
A |
9: 106,327,240 (GRCm39) |
H7Q |
probably benign |
Het |
Acod1 |
C |
T |
14: 103,286,780 (GRCm39) |
R28W |
possibly damaging |
Het |
Agap2 |
A |
G |
10: 126,924,194 (GRCm39) |
T803A |
unknown |
Het |
Angptl7 |
T |
C |
4: 148,581,741 (GRCm39) |
E215G |
probably damaging |
Het |
Ankrd34c |
T |
A |
9: 89,611,951 (GRCm39) |
D130V |
probably damaging |
Het |
BC028528 |
A |
G |
3: 95,792,298 (GRCm39) |
V144A |
probably benign |
Het |
Cab39l |
T |
C |
14: 59,776,640 (GRCm39) |
F274L |
probably damaging |
Het |
Cdsn |
T |
C |
17: 35,866,415 (GRCm39) |
S315P |
possibly damaging |
Het |
Celsr3 |
CGGGG |
CGGGGG |
9: 108,718,471 (GRCm39) |
|
probably null |
Het |
Cep97 |
A |
T |
16: 55,735,394 (GRCm39) |
L540* |
probably null |
Het |
Chrna2 |
G |
T |
14: 66,387,017 (GRCm39) |
E388* |
probably null |
Het |
Ckap4 |
A |
G |
10: 84,364,460 (GRCm39) |
V201A |
probably damaging |
Het |
Clec4b1 |
A |
G |
6: 123,042,922 (GRCm39) |
K47R |
probably benign |
Het |
Clvs2 |
A |
T |
10: 33,404,484 (GRCm39) |
I244N |
possibly damaging |
Het |
Cmtr1 |
G |
A |
17: 29,893,151 (GRCm39) |
E57K |
probably benign |
Het |
Cxxc1 |
T |
A |
18: 74,353,910 (GRCm39) |
D565E |
possibly damaging |
Het |
Dtx3l |
T |
A |
16: 35,754,073 (GRCm39) |
M178L |
probably benign |
Het |
Eml2 |
A |
G |
7: 18,930,161 (GRCm39) |
D294G |
possibly damaging |
Het |
Flt3 |
A |
G |
5: 147,269,698 (GRCm39) |
|
probably null |
Het |
Frs3 |
T |
A |
17: 48,014,777 (GRCm39) |
L490Q |
probably damaging |
Het |
Gm6882 |
G |
A |
7: 21,161,559 (GRCm39) |
T103I |
possibly damaging |
Het |
Gsdmd |
C |
T |
15: 75,736,270 (GRCm39) |
T133I |
probably benign |
Het |
Hhipl2 |
C |
A |
1: 183,209,540 (GRCm39) |
C331* |
probably null |
Het |
Ifnar1 |
C |
A |
16: 91,302,224 (GRCm39) |
D566E |
possibly damaging |
Het |
Ighv1-34 |
A |
T |
12: 114,814,939 (GRCm39) |
N74K |
probably benign |
Het |
Itk |
T |
C |
11: 46,233,222 (GRCm39) |
|
probably null |
Het |
Kdm7a |
T |
C |
6: 39,122,461 (GRCm39) |
D801G |
probably benign |
Het |
Marchf1 |
T |
C |
8: 66,871,641 (GRCm39) |
L139P |
probably damaging |
Het |
Metap1d |
T |
C |
2: 71,345,982 (GRCm39) |
V181A |
probably damaging |
Het |
Mfsd8 |
G |
A |
3: 40,789,628 (GRCm39) |
R140C |
probably damaging |
Het |
Mrps25 |
T |
C |
6: 92,152,745 (GRCm39) |
T92A |
probably benign |
Het |
Mucl3 |
T |
C |
17: 35,948,486 (GRCm39) |
H371R |
possibly damaging |
Het |
Ntng2 |
C |
A |
2: 29,138,050 (GRCm39) |
M1I |
probably null |
Het |
Or51b17 |
C |
T |
7: 103,542,256 (GRCm39) |
G229R |
probably benign |
Het |
Or51q1 |
A |
C |
7: 103,628,581 (GRCm39) |
M61L |
probably damaging |
Het |
Or8b57 |
T |
C |
9: 40,003,695 (GRCm39) |
K189R |
probably benign |
Het |
Pla2g12a |
A |
G |
3: 129,672,465 (GRCm39) |
D33G |
probably damaging |
Het |
Prlhr |
A |
G |
19: 60,456,284 (GRCm39) |
V94A |
possibly damaging |
Het |
Ralgapb |
T |
A |
2: 158,292,192 (GRCm39) |
S793T |
probably benign |
Het |
Rapgef6 |
T |
A |
11: 54,522,127 (GRCm39) |
L455* |
probably null |
Het |
Sbf2 |
T |
C |
7: 110,040,669 (GRCm39) |
H386R |
probably benign |
Het |
Sec23ip |
C |
A |
7: 128,365,749 (GRCm39) |
N539K |
probably damaging |
Het |
Shisa4 |
A |
G |
1: 135,300,907 (GRCm39) |
L121P |
probably damaging |
Het |
Slc28a2b |
C |
T |
2: 122,355,617 (GRCm39) |
T603I |
probably benign |
Het |
Stard9 |
T |
A |
2: 120,510,306 (GRCm39) |
F296I |
probably damaging |
Het |
Strn3 |
T |
C |
12: 51,707,955 (GRCm39) |
K147E |
probably damaging |
Het |
Taf5l |
T |
C |
8: 124,724,841 (GRCm39) |
N326S |
probably benign |
Het |
Tfb2m |
T |
A |
1: 179,369,914 (GRCm39) |
I170L |
probably benign |
Het |
Tfec |
T |
C |
6: 16,845,422 (GRCm39) |
N79S |
possibly damaging |
Het |
Tnn |
C |
T |
1: 159,946,053 (GRCm39) |
G922R |
probably damaging |
Het |
Tox3 |
T |
C |
8: 91,074,507 (GRCm39) |
Y24C |
probably damaging |
Het |
Vmn2r6 |
A |
T |
3: 64,463,526 (GRCm39) |
L436* |
probably null |
Het |
Wdr97 |
T |
C |
15: 76,245,684 (GRCm39) |
V1307A |
|
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 |
R8003:Vmn2r80
|
UTSW |
10 |
78,984,711 (GRCm39) |
missense |
probably benign |
0.16 |
R8207:Vmn2r80
|
UTSW |
10 |
79,030,150 (GRCm39) |
nonsense |
probably null |
|
R8330:Vmn2r80
|
UTSW |
10 |
79,007,550 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CGTCTCTAGATGATTAGAGTGACG -3'
(R):5'- GGGAATATATGGAGCCTCGTG -3'
Sequencing Primer
(F):5'- GAGTGACGTATTCATTCAGAATGTC -3'
(R):5'- ATATATGGAGCCTCGTGATGAG -3'
|
Posted On |
2020-09-02 |