Incidental Mutation 'R6270:Vmn2r80'
ID |
507280 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r80
|
Ensembl Gene |
ENSMUSG00000091888 |
Gene Name |
vomeronasal 2, receptor 80 |
Synonyms |
EG624765 |
MMRRC Submission |
044441-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R6270 (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 T
at 79030159 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 662
(I662L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165834]
|
AlphaFold |
E9Q1L0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000165834
AA Change: I662L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000132299 Gene: ENSMUSG00000091888 AA Change: I662L
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
Validation Efficiency |
98% (51/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
A |
G |
11: 54,242,933 (GRCm39) |
E648G |
probably benign |
Het |
Ak7 |
A |
G |
12: 105,734,960 (GRCm39) |
H642R |
probably benign |
Het |
Akap11 |
T |
C |
14: 78,756,239 (GRCm39) |
E53G |
probably damaging |
Het |
Ark2n |
T |
C |
18: 77,762,117 (GRCm39) |
D65G |
probably damaging |
Het |
Ddr2 |
T |
G |
1: 169,816,109 (GRCm39) |
T533P |
probably benign |
Het |
Dhx40 |
A |
G |
11: 86,690,431 (GRCm39) |
S197P |
possibly damaging |
Het |
Dolpp1 |
C |
A |
2: 30,282,281 (GRCm39) |
|
probably benign |
Het |
Eng |
A |
G |
2: 32,563,655 (GRCm39) |
D347G |
probably benign |
Het |
Esrra |
C |
T |
19: 6,891,488 (GRCm39) |
|
probably null |
Het |
Fap |
T |
C |
2: 62,378,132 (GRCm39) |
I159V |
probably damaging |
Het |
Fn1 |
C |
T |
1: 71,676,434 (GRCm39) |
C599Y |
probably damaging |
Het |
Fnbp4 |
T |
C |
2: 90,587,807 (GRCm39) |
V395A |
probably damaging |
Het |
Foxn3 |
T |
C |
12: 99,354,676 (GRCm39) |
R163G |
probably damaging |
Het |
Gphn |
T |
G |
12: 78,569,724 (GRCm39) |
L306R |
probably benign |
Het |
Gse1 |
T |
C |
8: 121,295,902 (GRCm39) |
|
probably benign |
Het |
Habp2 |
A |
G |
19: 56,295,295 (GRCm39) |
D62G |
possibly damaging |
Het |
Hdac7 |
AGGG |
AGGGG |
15: 97,706,376 (GRCm39) |
|
probably null |
Het |
Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
Kit |
A |
G |
5: 75,770,169 (GRCm39) |
T194A |
probably benign |
Het |
Krt16 |
C |
A |
11: 100,138,029 (GRCm39) |
A316S |
possibly damaging |
Het |
Krt7 |
A |
G |
15: 101,317,439 (GRCm39) |
D244G |
probably damaging |
Het |
Lhfpl3 |
T |
A |
5: 23,478,349 (GRCm39) |
Y77* |
probably null |
Het |
Lrrc18 |
A |
T |
14: 32,731,078 (GRCm39) |
M206L |
probably benign |
Het |
Magel2 |
C |
A |
7: 62,030,406 (GRCm39) |
C1103* |
probably null |
Het |
Mcf2l |
T |
C |
8: 13,068,701 (GRCm39) |
V1058A |
probably damaging |
Het |
Nbas |
G |
A |
12: 13,374,294 (GRCm39) |
A541T |
probably damaging |
Het |
Nrap |
C |
T |
19: 56,308,630 (GRCm39) |
M1485I |
probably benign |
Het |
Nudt18 |
T |
C |
14: 70,816,830 (GRCm39) |
Y145H |
probably benign |
Het |
Or51b6b |
T |
C |
7: 103,309,620 (GRCm39) |
Y279C |
possibly damaging |
Het |
Or51f1d |
T |
C |
7: 102,700,538 (GRCm39) |
L11P |
probably benign |
Het |
Or5k8 |
A |
T |
16: 58,644,782 (GRCm39) |
C97S |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pcdhb12 |
A |
T |
18: 37,569,838 (GRCm39) |
Q328L |
possibly damaging |
Het |
Pde6c |
T |
C |
19: 38,146,884 (GRCm39) |
W431R |
probably damaging |
Het |
Pga5 |
T |
C |
19: 10,652,225 (GRCm39) |
E139G |
probably benign |
Het |
Pkdrej |
G |
T |
15: 85,705,306 (GRCm39) |
S210* |
probably null |
Het |
Pnpla1 |
G |
A |
17: 29,100,342 (GRCm39) |
G403E |
probably benign |
Het |
Sema3d |
A |
T |
5: 12,498,074 (GRCm39) |
M27L |
probably benign |
Het |
Serinc5 |
T |
C |
13: 92,825,170 (GRCm39) |
S200P |
probably damaging |
Het |
Sf3b3 |
T |
C |
8: 111,568,452 (GRCm39) |
D174G |
probably damaging |
Het |
Sult1b1 |
A |
T |
5: 87,665,413 (GRCm39) |
|
probably null |
Het |
Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
Tcaf3 |
T |
C |
6: 42,570,725 (GRCm39) |
I342M |
probably benign |
Het |
Tenm3 |
G |
A |
8: 48,820,429 (GRCm39) |
T136M |
probably damaging |
Het |
Tet3 |
T |
C |
6: 83,352,773 (GRCm39) |
T1008A |
possibly damaging |
Het |
Tgif1 |
T |
C |
17: 71,151,861 (GRCm39) |
|
probably null |
Het |
Trav15-2-dv6-2 |
A |
G |
14: 53,887,323 (GRCm39) |
D81G |
probably benign |
Het |
Trpv5 |
T |
A |
6: 41,651,293 (GRCm39) |
H251L |
possibly damaging |
Het |
Ttc14 |
C |
A |
3: 33,854,537 (GRCm39) |
T37K |
possibly damaging |
Het |
Vmn2r81 |
A |
G |
10: 79,129,649 (GRCm39) |
I847V |
probably benign |
Het |
Zfp474 |
A |
G |
18: 52,771,436 (GRCm39) |
T30A |
probably benign |
Het |
Zswim4 |
C |
T |
8: 84,957,580 (GRCm39) |
V163M |
probably 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 |
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 |
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'- AGGGAATCACACTTCTTTCCATTGG -3'
(R):5'- GGAGATGTTCCCAGCCATATACC -3'
Sequencing Primer
(F):5'- TTGGATTCTCAACACTCACAGC -3'
(R):5'- GATGTTCCCAGCCATATACCAGAGAG -3'
|
Posted On |
2018-03-15 |