Incidental Mutation 'R9253:Vmn2r81'
ID |
701664 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r81
|
Ensembl Gene |
ENSMUSG00000055515 |
Gene Name |
vomeronasal 2, receptor 81 |
Synonyms |
pheromone recepter, V2rf2, EC1-VR2 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R9253 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
79083611-79130369 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 79129582 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 824
(S824R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020547
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020547]
|
AlphaFold |
Q80Z09 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020547
AA Change: S824R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000020547 Gene: ENSMUSG00000055515 AA Change: S824R
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: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (63/63) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
A |
G |
18: 59,103,013 (GRCm39) |
N685D |
probably damaging |
Het |
Adh4 |
A |
T |
3: 138,129,860 (GRCm39) |
I229F |
probably damaging |
Het |
Ajm1 |
T |
C |
2: 25,467,172 (GRCm39) |
H913R |
possibly damaging |
Het |
Aldh3b1 |
T |
A |
19: 3,965,315 (GRCm39) |
S399C |
probably damaging |
Het |
Arhgef28 |
C |
T |
13: 98,124,779 (GRCm39) |
G501D |
probably benign |
Het |
Asb1 |
C |
A |
1: 91,468,551 (GRCm39) |
T6N |
unknown |
Het |
Asb18 |
C |
T |
1: 89,882,185 (GRCm39) |
V382I |
probably benign |
Het |
AU041133 |
T |
C |
10: 81,987,220 (GRCm39) |
I291T |
probably benign |
Het |
B4galnt2 |
C |
T |
11: 95,759,176 (GRCm39) |
|
silent |
Het |
Bcl7c |
T |
C |
7: 127,306,403 (GRCm39) |
|
probably benign |
Het |
Brinp1 |
T |
C |
4: 68,711,083 (GRCm39) |
N375S |
possibly damaging |
Het |
C6 |
A |
G |
15: 4,764,679 (GRCm39) |
Q125R |
probably benign |
Het |
Card14 |
T |
C |
11: 119,212,759 (GRCm39) |
S108P |
probably benign |
Het |
Clec4a2 |
C |
A |
6: 123,100,608 (GRCm39) |
T21N |
probably damaging |
Het |
Cntnap2 |
C |
T |
6: 45,978,112 (GRCm39) |
L256F |
probably benign |
Het |
Cobll1 |
G |
A |
2: 64,981,503 (GRCm39) |
T29I |
probably benign |
Het |
Coq4 |
A |
T |
2: 29,685,433 (GRCm39) |
D149V |
probably damaging |
Het |
Dync1i1 |
T |
C |
6: 5,769,698 (GRCm39) |
L91S |
probably benign |
Het |
Fat2 |
T |
A |
11: 55,201,397 (GRCm39) |
D559V |
probably damaging |
Het |
Gm4779 |
TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG |
TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG |
X: 100,836,917 (GRCm39) |
|
probably benign |
Het |
Gsdmc |
A |
T |
15: 63,676,407 (GRCm39) |
V12E |
probably damaging |
Het |
H2-Ab1 |
T |
C |
17: 34,486,378 (GRCm39) |
S146P |
probably damaging |
Het |
Heatr5b |
A |
G |
17: 79,135,423 (GRCm39) |
V236A |
probably benign |
Het |
Hjv |
T |
C |
3: 96,435,710 (GRCm39) |
S323P |
probably benign |
Het |
Hmgcr |
C |
T |
13: 96,796,645 (GRCm39) |
C215Y |
probably damaging |
Het |
L3mbtl1 |
G |
T |
2: 162,789,632 (GRCm39) |
A57S |
probably benign |
Het |
Lilrb4b |
G |
A |
10: 51,357,863 (GRCm39) |
V186I |
probably damaging |
Het |
Map1a |
T |
C |
2: 121,132,823 (GRCm39) |
V1213A |
probably benign |
Het |
Marf1 |
T |
C |
16: 13,935,172 (GRCm39) |
E1532G |
probably damaging |
Het |
Mcm6 |
T |
C |
1: 128,279,264 (GRCm39) |
Y174C |
probably damaging |
Het |
Miga2 |
T |
A |
2: 30,261,239 (GRCm39) |
V178E |
probably benign |
Het |
Myh11 |
T |
A |
16: 14,074,359 (GRCm39) |
I174F |
|
Het |
Ndufv1 |
G |
T |
19: 4,059,412 (GRCm39) |
A211E |
probably damaging |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
Nrp1 |
T |
C |
8: 129,229,144 (GRCm39) |
V874A |
possibly damaging |
Het |
Nsf |
C |
T |
11: 103,804,142 (GRCm39) |
G197S |
probably null |
Het |
Or10al2 |
A |
T |
17: 37,983,637 (GRCm39) |
H241L |
probably benign |
Het |
Or2t26 |
T |
C |
11: 49,039,822 (GRCm39) |
M246T |
probably damaging |
Het |
Pacs2 |
A |
G |
12: 113,014,137 (GRCm39) |
D196G |
probably benign |
Het |
Pbxip1 |
A |
G |
3: 89,351,012 (GRCm39) |
D118G |
probably benign |
Het |
Pcdhb11 |
A |
T |
18: 37,554,529 (GRCm39) |
|
probably benign |
Het |
Pgk2 |
C |
T |
17: 40,519,233 (GRCm39) |
G65D |
probably damaging |
Het |
Plcd3 |
T |
C |
11: 102,970,460 (GRCm39) |
D193G |
probably benign |
Het |
Plcl2 |
T |
G |
17: 50,915,127 (GRCm39) |
M712R |
probably damaging |
Het |
Plxna1 |
G |
A |
6: 89,334,522 (GRCm39) |
Q36* |
probably null |
Het |
Plxnb2 |
A |
G |
15: 89,052,015 (GRCm39) |
V68A |
probably benign |
Het |
Polr2b |
A |
G |
5: 77,493,224 (GRCm39) |
I1069V |
probably benign |
Het |
Rbfox1 |
A |
G |
16: 7,111,973 (GRCm39) |
T200A |
probably benign |
Het |
Rspry1 |
T |
A |
8: 95,349,621 (GRCm39) |
V3D |
probably damaging |
Het |
Serpinb6d |
T |
C |
13: 33,855,205 (GRCm39) |
M293T |
probably damaging |
Het |
Slc4a8 |
A |
G |
15: 100,680,913 (GRCm39) |
R72G |
probably benign |
Het |
Smarca5 |
A |
C |
8: 81,446,344 (GRCm39) |
L452W |
probably damaging |
Het |
Srcin1 |
T |
C |
11: 97,416,377 (GRCm39) |
K952E |
probably damaging |
Het |
Synpo2l |
G |
T |
14: 20,716,738 (GRCm39) |
Q79K |
possibly damaging |
Het |
Tmem174 |
T |
C |
13: 98,773,803 (GRCm39) |
E9G |
possibly damaging |
Het |
Tmem270 |
T |
C |
5: 134,930,644 (GRCm39) |
T206A |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,562,951 (GRCm39) |
T28668S |
possibly damaging |
Het |
Vmn1r118 |
A |
T |
7: 20,645,817 (GRCm39) |
S152R |
possibly damaging |
Het |
Vmn2r25 |
T |
A |
6: 123,816,960 (GRCm39) |
Q207L |
probably damaging |
Het |
Vps54 |
G |
A |
11: 21,258,771 (GRCm39) |
V733I |
probably benign |
Het |
Zfp518b |
G |
T |
5: 38,829,601 (GRCm39) |
D801E |
probably benign |
Het |
Zgrf1 |
C |
A |
3: 127,392,428 (GRCm39) |
P1316Q |
probably damaging |
Het |
Zzef1 |
C |
A |
11: 72,739,463 (GRCm39) |
|
probably benign |
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 |
R8540:Vmn2r81
|
UTSW |
10 |
79,129,065 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
|
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'- TGGCTTACCTGGGAGTCATG -3'
(R):5'- CATGCCATAACTTTACATTCGACAG -3'
Sequencing Primer
(F):5'- CATGGCCTTTGGGAGTTACCTC -3'
(R):5'- CATAACTTTACATTCGACAGTCAAAC -3'
|
Posted On |
2022-03-25 |