Incidental Mutation 'R4551:Vmn2r81'
| ID |
333964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r81
|
| Ensembl Gene |
ENSMUSG00000055515 |
| Gene Name |
vomeronasal 2, receptor 81 |
| Synonyms |
pheromone recepter, V2rf2, EC1-VR2 |
| MMRRC Submission |
041782-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R4551 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79083611-79130369 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79104241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 288
(I288K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020547]
|
| AlphaFold |
Q80Z09 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020547
AA Change: I288K
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020547
Gene: ENSMUSG00000055515
AA Change: I288K
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
100% (71/71) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
G |
11: 119,902,395 (GRCm39) |
E610A |
probably benign |
Het |
| Abhd17b |
T |
C |
19: 21,658,290 (GRCm39) |
S176P |
possibly damaging |
Het |
| Adgrg7 |
A |
G |
16: 56,568,375 (GRCm39) |
Y427H |
probably damaging |
Het |
| Alox15 |
T |
A |
11: 70,235,422 (GRCm39) |
I647L |
probably benign |
Het |
| Ankhd1 |
C |
A |
18: 36,788,560 (GRCm39) |
|
probably null |
Het |
| Arid1a |
A |
C |
4: 133,423,010 (GRCm39) |
|
probably benign |
Het |
| Armcx5 |
T |
A |
X: 134,647,256 (GRCm39) |
V444D |
probably damaging |
Het |
| C4bp |
A |
G |
1: 130,564,464 (GRCm39) |
Y407H |
possibly damaging |
Het |
| Cog6 |
T |
A |
3: 52,905,741 (GRCm39) |
E96V |
probably damaging |
Het |
| Cox20 |
A |
C |
1: 178,150,114 (GRCm39) |
N96T |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,273,934 (GRCm39) |
I351V |
probably benign |
Het |
| Cpd |
C |
T |
11: 76,702,712 (GRCm39) |
G552D |
probably damaging |
Het |
| Cyld |
A |
G |
8: 89,433,762 (GRCm39) |
K184E |
possibly damaging |
Het |
| Dab2 |
G |
A |
15: 6,464,775 (GRCm39) |
G324D |
probably damaging |
Het |
| Depdc1a |
T |
A |
3: 159,228,221 (GRCm39) |
D324E |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,732,192 (GRCm39) |
E4238G |
probably damaging |
Het |
| Dync1i1 |
T |
A |
6: 5,923,206 (GRCm39) |
D275E |
probably benign |
Het |
| Epgn |
A |
T |
5: 91,175,421 (GRCm39) |
K14* |
probably null |
Het |
| Farp2 |
T |
A |
1: 93,546,314 (GRCm39) |
L868Q |
possibly damaging |
Het |
| Gpr45 |
A |
G |
1: 43,071,950 (GRCm39) |
T198A |
probably benign |
Het |
| Grk2 |
C |
T |
19: 4,336,084 (GRCm39) |
V402M |
possibly damaging |
Het |
| Gsap |
A |
T |
5: 21,495,569 (GRCm39) |
D79V |
probably damaging |
Het |
| Gtf2h3 |
A |
G |
5: 124,728,482 (GRCm39) |
|
probably benign |
Het |
| Hus1b |
C |
A |
13: 31,131,059 (GRCm39) |
S200I |
probably damaging |
Het |
| Hypk |
A |
G |
2: 121,283,961 (GRCm39) |
|
probably null |
Het |
| Ikbke |
T |
C |
1: 131,185,770 (GRCm39) |
|
probably benign |
Het |
| Kat6b |
A |
G |
14: 21,711,516 (GRCm39) |
E670G |
probably damaging |
Het |
| Kif26b |
T |
A |
1: 178,711,600 (GRCm39) |
I740N |
probably damaging |
Het |
| Lhx3 |
G |
A |
2: 26,091,202 (GRCm39) |
P369L |
probably damaging |
Het |
| Man2c1 |
T |
C |
9: 57,038,445 (GRCm39) |
L35P |
probably damaging |
Het |
| Mical2 |
T |
A |
7: 111,981,123 (GRCm39) |
S366T |
possibly damaging |
Het |
| Mroh9 |
A |
T |
1: 162,871,662 (GRCm39) |
I607N |
probably damaging |
Het |
| Mybphl |
T |
C |
3: 108,281,479 (GRCm39) |
I65T |
possibly damaging |
Het |
| Myo1g |
A |
G |
11: 6,467,874 (GRCm39) |
I187T |
probably damaging |
Het |
| Myo7b |
T |
C |
18: 32,118,161 (GRCm39) |
S822G |
probably benign |
Het |
| Nkx2-4 |
C |
A |
2: 146,926,842 (GRCm39) |
A142S |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Odf4 |
C |
T |
11: 68,812,866 (GRCm39) |
S264N |
probably benign |
Het |
| Or12k7 |
G |
T |
2: 36,958,355 (GRCm39) |
V13L |
probably benign |
Het |
| Or13a17 |
A |
T |
7: 140,271,655 (GRCm39) |
Y279F |
probably damaging |
Het |
| Or56b1 |
A |
T |
7: 104,285,631 (GRCm39) |
H250L |
probably damaging |
Het |
| Papolb |
T |
C |
5: 142,514,933 (GRCm39) |
I237V |
probably benign |
Het |
| Parpbp |
T |
A |
10: 87,929,564 (GRCm39) |
Q428L |
possibly damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,612,887 (GRCm39) |
F616L |
probably damaging |
Het |
| Pdk3 |
A |
T |
X: 92,825,846 (GRCm39) |
M253K |
probably damaging |
Het |
| Pgap2 |
C |
A |
7: 101,875,674 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
C |
A |
15: 44,414,281 (GRCm39) |
N2849K |
probably damaging |
Het |
| Pprc1 |
A |
G |
19: 46,055,664 (GRCm39) |
|
probably benign |
Het |
| Psma2 |
A |
G |
13: 14,791,430 (GRCm39) |
Y25C |
possibly damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Ptpn5 |
C |
A |
7: 46,740,600 (GRCm39) |
|
probably benign |
Het |
| Pxn |
G |
T |
5: 115,690,779 (GRCm39) |
|
probably benign |
Het |
| Scd3 |
C |
A |
19: 44,203,878 (GRCm39) |
A22E |
probably benign |
Het |
| Sdr42e1 |
T |
C |
8: 118,390,347 (GRCm39) |
E98G |
probably benign |
Het |
| Slc14a2 |
A |
C |
18: 78,239,068 (GRCm39) |
S184A |
probably benign |
Het |
| Tmem236 |
A |
T |
2: 14,223,964 (GRCm39) |
Q251L |
probably benign |
Het |
| Trappc8 |
T |
C |
18: 21,007,729 (GRCm39) |
T129A |
probably benign |
Het |
| Vmn1r90 |
A |
C |
7: 14,295,894 (GRCm39) |
M68R |
possibly damaging |
Het |
| Vmn2r105 |
A |
G |
17: 20,446,613 (GRCm39) |
V462A |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,110 (GRCm39) |
T816A |
possibly damaging |
Het |
| Zfp180 |
A |
C |
7: 23,803,998 (GRCm39) |
K139T |
possibly damaging |
Het |
| Zfp932 |
T |
C |
5: 110,157,505 (GRCm39) |
V401A |
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 |
|
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 |
|
|
|
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'- AGAGGTGCTCAGTTTCTATCAGAC -3'
(R):5'- GCAGTTGAAATGCCAGTACC -3'
Sequencing Primer
(F):5'- GTGCTCAGTTTCTATCAGACTTTAG -3'
(R):5'- AAAATATCTTCTGGGTACTTGATGGG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation