Incidental Mutation 'R6508:Vmn2r80'
ID |
524009 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r80
|
Ensembl Gene |
ENSMUSG00000091888 |
Gene Name |
vomeronasal 2, receptor 80 |
Synonyms |
EG624765 |
MMRRC Submission |
044638-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R6508 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
78984650-79030767 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 79030290 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 705
(F705L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165834]
|
AlphaFold |
E9Q1L0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000165834
AA Change: F705L
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000132299 Gene: ENSMUSG00000091888 AA Change: F705L
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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm2 |
G |
A |
4: 144,291,590 (GRCm39) |
R39* |
probably null |
Het |
Brca2 |
A |
T |
5: 150,460,058 (GRCm39) |
E444D |
possibly damaging |
Het |
Camkk2 |
G |
T |
5: 122,884,382 (GRCm39) |
N346K |
probably damaging |
Het |
Car4 |
C |
A |
11: 84,856,469 (GRCm39) |
D252E |
possibly damaging |
Het |
Chd1 |
A |
G |
17: 15,958,895 (GRCm39) |
K649R |
probably benign |
Het |
Col12a1 |
A |
G |
9: 79,557,231 (GRCm39) |
Y1966H |
probably damaging |
Het |
Crppa |
C |
T |
12: 36,476,298 (GRCm39) |
A180V |
possibly damaging |
Het |
Cts6 |
T |
A |
13: 61,344,221 (GRCm39) |
H277L |
probably damaging |
Het |
Dcc |
G |
T |
18: 71,439,144 (GRCm39) |
P1246Q |
probably damaging |
Het |
Dlg5 |
G |
A |
14: 24,188,774 (GRCm39) |
T1739I |
probably benign |
Het |
Eci1 |
T |
A |
17: 24,656,283 (GRCm39) |
N164K |
probably damaging |
Het |
Entpd7 |
G |
A |
19: 43,679,525 (GRCm39) |
R26H |
probably damaging |
Het |
Fanci |
A |
G |
7: 79,093,516 (GRCm39) |
K1008E |
probably damaging |
Het |
Htr2b |
T |
C |
1: 86,030,186 (GRCm39) |
T170A |
possibly damaging |
Het |
Irgm2 |
A |
G |
11: 58,110,327 (GRCm39) |
E18G |
probably benign |
Het |
Kdm1a |
A |
T |
4: 136,281,621 (GRCm39) |
V630E |
probably damaging |
Het |
Keap1 |
G |
A |
9: 21,143,010 (GRCm39) |
T501I |
possibly damaging |
Het |
L3mbtl3 |
T |
A |
10: 26,194,325 (GRCm39) |
H424L |
unknown |
Het |
Lrrc14b |
C |
T |
13: 74,511,337 (GRCm39) |
D248N |
possibly damaging |
Het |
Macf1 |
T |
A |
4: 123,363,535 (GRCm39) |
D3364V |
probably damaging |
Het |
Map3k20 |
G |
A |
2: 72,272,253 (GRCm39) |
G794S |
probably benign |
Het |
Mcat |
T |
C |
15: 83,433,452 (GRCm39) |
Q34R |
probably benign |
Het |
Mettl4 |
T |
C |
17: 95,051,373 (GRCm39) |
E148G |
probably damaging |
Het |
Mgat3 |
T |
C |
15: 80,096,225 (GRCm39) |
S351P |
possibly damaging |
Het |
Mllt1 |
A |
T |
17: 57,234,054 (GRCm39) |
I44N |
probably damaging |
Het |
Mlxipl |
G |
T |
5: 135,157,474 (GRCm39) |
A337S |
probably benign |
Het |
Naip1 |
A |
G |
13: 100,572,973 (GRCm39) |
F254L |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,944,973 (GRCm39) |
|
probably null |
Het |
Or10q1 |
C |
T |
19: 13,726,718 (GRCm39) |
P83S |
probably damaging |
Het |
Pcdh12 |
G |
A |
18: 38,414,390 (GRCm39) |
R912* |
probably null |
Het |
Pcdh17 |
A |
G |
14: 84,685,419 (GRCm39) |
N629D |
probably damaging |
Het |
Pcnx1 |
T |
C |
12: 81,959,479 (GRCm39) |
I170T |
probably damaging |
Het |
Pgr |
A |
G |
9: 8,956,290 (GRCm39) |
Y746C |
probably damaging |
Het |
Pramel29 |
A |
T |
4: 143,934,171 (GRCm39) |
L312* |
probably null |
Het |
Pum2 |
T |
C |
12: 8,798,861 (GRCm39) |
Y991H |
probably benign |
Het |
Rcc1l |
A |
T |
5: 134,198,077 (GRCm39) |
V185D |
probably damaging |
Het |
Scarb1 |
A |
T |
5: 125,381,389 (GRCm39) |
S52T |
possibly damaging |
Het |
Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
Spata4 |
T |
C |
8: 55,053,887 (GRCm39) |
S18P |
probably benign |
Het |
Stard13 |
G |
A |
5: 150,986,754 (GRCm39) |
T134I |
probably benign |
Het |
Tbc1d32 |
C |
T |
10: 56,100,786 (GRCm39) |
C64Y |
probably damaging |
Het |
Tll1 |
T |
G |
8: 64,551,494 (GRCm39) |
I296L |
probably damaging |
Het |
Tmem229b |
T |
G |
12: 79,011,680 (GRCm39) |
T84P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,544,757 (GRCm39) |
T32782A |
possibly damaging |
Het |
Vmn1r73 |
G |
A |
7: 11,490,631 (GRCm39) |
V150I |
possibly damaging |
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 |
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 |
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'- GGCCTTCCAAATACAGCAATGTG -3'
(R):5'- GCATGCTGAAAGCCAGTGAC -3'
Sequencing Primer
(F):5'- CAGCAATGTGTATAATGCAACAGTAC -3'
(R):5'- CATTAAATCTGTCGGGCAGTC -3'
|
Posted On |
2018-06-22 |