Incidental Mutation 'R8540:Vmn2r81'
| ID |
659371 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r81
|
| Ensembl Gene |
ENSMUSG00000055515 |
| Gene Name |
vomeronasal 2, receptor 81 |
| Synonyms |
pheromone recepter, V2rf2, EC1-VR2 |
| MMRRC Submission |
068506-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R8540 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79083611-79130369 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79129065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 652
(N652I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020547]
|
| AlphaFold |
Q80Z09 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020547
AA Change: N652I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020547
Gene: ENSMUSG00000055515
AA Change: N652I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
79 |
474 |
7.7e-37 |
PFAM |
|
Pfam:NCD3G
|
517 |
570 |
8.9e-21 |
PFAM |
|
Pfam:7tm_3
|
603 |
838 |
6.1e-50 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit vomeronasal sensory neuron axons that spread out diffusely over the posterior accessory olfactory bulb and extend abnormally into the anterior olfactory bulb. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp2 |
A |
T |
6: 140,579,437 (GRCm39) |
I225L |
probably benign |
Het |
| Aebp2 |
A |
G |
6: 140,579,439 (GRCm39) |
I225M |
probably benign |
Het |
| Ap2a1 |
C |
A |
7: 44,553,750 (GRCm39) |
G566C |
probably damaging |
Het |
| Cdk15 |
T |
C |
1: 59,349,992 (GRCm39) |
V328A |
possibly damaging |
Het |
| Cyld |
G |
A |
8: 89,473,568 (GRCm39) |
G929D |
probably damaging |
Het |
| Ddx50 |
G |
A |
10: 62,476,569 (GRCm39) |
L235F |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,208,767 (GRCm39) |
D813G |
probably damaging |
Het |
| Epb41l3 |
C |
T |
17: 69,593,757 (GRCm39) |
T797M |
probably damaging |
Het |
| Foxred2 |
G |
A |
15: 77,836,212 (GRCm39) |
R382W |
probably damaging |
Het |
| Gm5798 |
T |
A |
14: 41,070,674 (GRCm39) |
I28N |
possibly damaging |
Het |
| Grb14 |
C |
T |
2: 64,851,478 (GRCm39) |
V91M |
probably benign |
Het |
| Ints6 |
T |
C |
14: 62,934,353 (GRCm39) |
D718G |
probably benign |
Het |
| Man2a1 |
C |
A |
17: 64,965,982 (GRCm39) |
H307N |
probably benign |
Het |
| Mylk |
T |
C |
16: 34,750,257 (GRCm39) |
Y1199H |
possibly damaging |
Het |
| Nim1k |
T |
C |
13: 120,175,718 (GRCm39) |
S163G |
probably benign |
Het |
| Or1r1 |
A |
G |
11: 73,875,153 (GRCm39) |
F94L |
probably damaging |
Het |
| Or51f5 |
G |
C |
7: 102,424,339 (GRCm39) |
A203P |
possibly damaging |
Het |
| Or5ac16 |
A |
T |
16: 59,022,323 (GRCm39) |
H155Q |
possibly damaging |
Het |
| Or8h6 |
C |
A |
2: 86,703,776 (GRCm39) |
C97F |
probably damaging |
Het |
| Phyhip |
A |
G |
14: 70,704,594 (GRCm39) |
D271G |
probably benign |
Het |
| Pramel27 |
T |
A |
4: 143,579,496 (GRCm39) |
S360R |
probably benign |
Het |
| Pycr2 |
G |
A |
1: 180,734,178 (GRCm39) |
A187T |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,630,367 (GRCm39) |
E2148V |
probably damaging |
Het |
| Septin12 |
T |
C |
16: 4,805,481 (GRCm39) |
H304R |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Ssx2ip |
T |
C |
3: 146,124,114 (GRCm39) |
V43A |
probably benign |
Het |
| Syne2 |
A |
T |
12: 76,141,148 (GRCm39) |
N6087Y |
probably damaging |
Het |
| Tbc1d4 |
A |
T |
14: 101,845,712 (GRCm39) |
I62N |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,573,337 (GRCm39) |
G24106D |
probably damaging |
Het |
| Uhrf1 |
T |
A |
17: 56,612,105 (GRCm39) |
I3N |
probably damaging |
Het |
| Urgcp |
A |
C |
11: 5,667,915 (GRCm39) |
L141R |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,274,858 (GRCm39) |
R1777H |
probably benign |
Het |
| Vamp3 |
A |
G |
4: 151,135,507 (GRCm39) |
V37A |
possibly damaging |
Het |
| Vmn1r172 |
C |
T |
7: 23,359,498 (GRCm39) |
L128F |
possibly damaging |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,897 (GRCm39) |
Y71H |
probably damaging |
Het |
| Vmn2r111 |
C |
T |
17: 22,778,023 (GRCm39) |
|
probably null |
Het |
| Vmn2r111 |
T |
A |
17: 22,778,024 (GRCm39) |
N552Y |
probably damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,314,762 (GRCm39) |
N275D |
possibly damaging |
Het |
| Wrn |
T |
A |
8: 33,842,154 (GRCm39) |
I47F |
probably damaging |
Het |
|
| Other mutations in Vmn2r81 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01111:Vmn2r81
|
APN |
10 |
79,083,831 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02255:Vmn2r81
|
APN |
10 |
79,083,806 (GRCm39) |
nonsense |
probably null |
|
|
IGL02901:Vmn2r81
|
APN |
10 |
79,106,564 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0383:Vmn2r81
|
UTSW |
10 |
79,129,281 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0555:Vmn2r81
|
UTSW |
10 |
79,129,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0715:Vmn2r81
|
UTSW |
10 |
79,104,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0967:Vmn2r81
|
UTSW |
10 |
79,083,857 (GRCm39) |
splice site |
probably benign |
|
|
R1438:Vmn2r81
|
UTSW |
10 |
79,129,691 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1468:Vmn2r81
|
UTSW |
10 |
79,129,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Vmn2r81
|
UTSW |
10 |
79,129,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1589:Vmn2r81
|
UTSW |
10 |
79,128,858 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1671:Vmn2r81
|
UTSW |
10 |
79,103,265 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1672:Vmn2r81
|
UTSW |
10 |
79,104,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1728:Vmn2r81
|
UTSW |
10 |
79,106,489 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1784:Vmn2r81
|
UTSW |
10 |
79,106,489 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1931:Vmn2r81
|
UTSW |
10 |
79,129,328 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1934:Vmn2r81
|
UTSW |
10 |
79,083,628 (GRCm39) |
start codon destroyed |
probably null |
0.71 |
|
R1944:Vmn2r81
|
UTSW |
10 |
79,129,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Vmn2r81
|
UTSW |
10 |
79,129,334 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2190:Vmn2r81
|
UTSW |
10 |
79,104,085 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2392:Vmn2r81
|
UTSW |
10 |
79,110,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3770:Vmn2r81
|
UTSW |
10 |
79,106,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4551:Vmn2r81
|
UTSW |
10 |
79,104,241 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4629:Vmn2r81
|
UTSW |
10 |
79,103,276 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4691:Vmn2r81
|
UTSW |
10 |
79,129,211 (GRCm39) |
nonsense |
probably null |
|
|
R4829:Vmn2r81
|
UTSW |
10 |
79,083,635 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4914:Vmn2r81
|
UTSW |
10 |
79,106,357 (GRCm39) |
missense |
probably null |
1.00 |
|
R4996:Vmn2r81
|
UTSW |
10 |
79,129,247 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5242:Vmn2r81
|
UTSW |
10 |
79,129,309 (GRCm39) |
nonsense |
probably null |
|
|
R5253:Vmn2r81
|
UTSW |
10 |
79,083,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5925:Vmn2r81
|
UTSW |
10 |
79,083,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6169:Vmn2r81
|
UTSW |
10 |
79,104,382 (GRCm39) |
missense |
probably benign |
|
|
R6270:Vmn2r81
|
UTSW |
10 |
79,129,649 (GRCm39) |
missense |
probably benign |
|
|
R6525:Vmn2r81
|
UTSW |
10 |
79,129,560 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6813:Vmn2r81
|
UTSW |
10 |
79,104,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6886:Vmn2r81
|
UTSW |
10 |
79,103,988 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7200:Vmn2r81
|
UTSW |
10 |
79,106,570 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7350:Vmn2r81
|
UTSW |
10 |
79,104,219 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7504:Vmn2r81
|
UTSW |
10 |
79,104,166 (GRCm39) |
missense |
probably benign |
|
|
R7832:Vmn2r81
|
UTSW |
10 |
79,129,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8130:Vmn2r81
|
UTSW |
10 |
79,110,538 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8362:Vmn2r81
|
UTSW |
10 |
79,103,283 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8407:Vmn2r81
|
UTSW |
10 |
79,104,028 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8558:Vmn2r81
|
UTSW |
10 |
79,106,467 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8700:Vmn2r81
|
UTSW |
10 |
79,129,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8779:Vmn2r81
|
UTSW |
10 |
79,103,218 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8987:Vmn2r81
|
UTSW |
10 |
79,129,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9001:Vmn2r81
|
UTSW |
10 |
79,104,104 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9055:Vmn2r81
|
UTSW |
10 |
79,110,441 (GRCm39) |
missense |
probably benign |
|
|
R9145:Vmn2r81
|
UTSW |
10 |
79,104,028 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9151:Vmn2r81
|
UTSW |
10 |
79,103,905 (GRCm39) |
missense |
|
|
|
R9253:Vmn2r81
|
UTSW |
10 |
79,129,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9255:Vmn2r81
|
UTSW |
10 |
79,103,166 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9370:Vmn2r81
|
UTSW |
10 |
79,104,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9588:Vmn2r81
|
UTSW |
10 |
79,129,205 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
X0067:Vmn2r81
|
UTSW |
10 |
79,128,877 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGAAGAGACACTGCCTG -3'
(R):5'- TTGGAATGGCAAATTTAGGGAC -3'
Sequencing Primer
(F):5'- CTGTACTATAATGATCCCCTGGGG -3'
(R):5'- CAAATTTAGGGACCTGTGATGTCAGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation