Incidental Mutation 'R2190:Vmn2r81'
| ID |
238045 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r81
|
| Ensembl Gene |
ENSMUSG00000055515 |
| Gene Name |
vomeronasal 2, receptor 81 |
| Synonyms |
pheromone recepter, V2rf2, EC1-VR2 |
| MMRRC Submission |
040192-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R2190 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
79083611-79130369 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79104085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 236
(D236G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020547]
|
| AlphaFold |
Q80Z09 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020547
AA Change: D236G
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000020547
Gene: ENSMUSG00000055515
AA Change: D236G
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
T |
8: 111,766,785 (GRCm39) |
T56S |
probably damaging |
Het |
| Acbd6 |
A |
T |
1: 155,500,652 (GRCm39) |
H204L |
probably damaging |
Het |
| Acnat2 |
T |
A |
4: 49,383,551 (GRCm39) |
M1L |
probably benign |
Het |
| Adgrg5 |
A |
T |
8: 95,660,579 (GRCm39) |
I73F |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,219,487 (GRCm39) |
T474A |
probably benign |
Het |
| Arid3a |
A |
G |
10: 79,782,365 (GRCm39) |
D252G |
possibly damaging |
Het |
| Aspg |
G |
T |
12: 112,091,322 (GRCm39) |
E501D |
probably damaging |
Het |
| Bicral |
A |
G |
17: 47,136,049 (GRCm39) |
I387T |
probably damaging |
Het |
| Bub1 |
T |
C |
2: 127,652,645 (GRCm39) |
N574S |
probably benign |
Het |
| Casr |
G |
A |
16: 36,315,778 (GRCm39) |
T764M |
probably damaging |
Het |
| Ccdc60 |
A |
G |
5: 116,295,639 (GRCm39) |
S259P |
probably damaging |
Het |
| Ccne2 |
A |
T |
4: 11,197,241 (GRCm39) |
N181I |
probably benign |
Het |
| Chd4 |
A |
G |
6: 125,091,260 (GRCm39) |
D89G |
probably benign |
Het |
| Col25a1 |
C |
T |
3: 130,378,364 (GRCm39) |
P606S |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,680,491 (GRCm39) |
S582P |
possibly damaging |
Het |
| Dlg4 |
A |
G |
11: 69,933,430 (GRCm39) |
D619G |
probably damaging |
Het |
| Elavl2 |
C |
T |
4: 91,152,331 (GRCm39) |
V129I |
probably benign |
Het |
| Epha3 |
A |
G |
16: 63,366,552 (GRCm39) |
I965T |
probably benign |
Het |
| Fbxw16 |
G |
A |
9: 109,265,739 (GRCm39) |
S360L |
probably damaging |
Het |
| Fgf14 |
T |
C |
14: 124,221,330 (GRCm39) |
Y158C |
probably damaging |
Het |
| Gm44511 |
A |
G |
6: 128,803,163 (GRCm39) |
I16T |
possibly damaging |
Het |
| Has2 |
C |
A |
15: 56,531,183 (GRCm39) |
V511F |
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,109,185 (GRCm39) |
R1025C |
probably damaging |
Het |
| Hsd17b12 |
T |
C |
2: 93,864,408 (GRCm39) |
Y233C |
probably benign |
Het |
| Il36rn |
A |
T |
2: 24,170,831 (GRCm39) |
I43F |
probably damaging |
Het |
| Inpp5b |
T |
A |
4: 124,678,988 (GRCm39) |
I465N |
probably damaging |
Het |
| Irak2 |
T |
A |
6: 113,663,904 (GRCm39) |
N423K |
probably damaging |
Het |
| Itga2 |
C |
A |
13: 115,007,141 (GRCm39) |
V396L |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,874,685 (GRCm39) |
T212A |
possibly damaging |
Het |
| Lipo2 |
A |
T |
19: 33,725,969 (GRCm39) |
N94K |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,390,869 (GRCm39) |
T1519A |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,353,005 (GRCm39) |
V1558A |
probably benign |
Het |
| Mocos |
C |
A |
18: 24,797,114 (GRCm39) |
H91Q |
probably benign |
Het |
| Myh14 |
G |
A |
7: 44,310,487 (GRCm39) |
T132I |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,322,237 (GRCm39) |
D803E |
possibly damaging |
Het |
| Ntsr2 |
T |
A |
12: 16,704,018 (GRCm39) |
I173N |
probably damaging |
Het |
| Or14c43 |
A |
G |
7: 86,115,573 (GRCm39) |
Y318C |
possibly damaging |
Het |
| Or5b105 |
T |
G |
19: 13,079,857 (GRCm39) |
K270N |
probably damaging |
Het |
| Pitx3 |
T |
C |
19: 46,125,486 (GRCm39) |
Y86C |
probably damaging |
Het |
| Pkp1 |
T |
C |
1: 135,807,709 (GRCm39) |
S520G |
probably benign |
Het |
| Pygo1 |
C |
T |
9: 72,852,529 (GRCm39) |
Q239* |
probably null |
Het |
| Rab13 |
A |
G |
3: 90,130,851 (GRCm39) |
E68G |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,525,201 (GRCm39) |
E797G |
probably benign |
Het |
| Slc5a1 |
T |
C |
5: 33,261,937 (GRCm39) |
|
probably null |
Het |
| Slco1c1 |
A |
G |
6: 141,508,893 (GRCm39) |
T518A |
probably benign |
Het |
| Spint1 |
A |
G |
2: 119,068,661 (GRCm39) |
I132V |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,544,601 (GRCm39) |
I4514N |
probably benign |
Het |
| Tenm3 |
T |
G |
8: 48,848,579 (GRCm39) |
S87R |
probably damaging |
Het |
| Thap4 |
G |
T |
1: 93,678,381 (GRCm39) |
P135Q |
probably damaging |
Het |
| Tmed9 |
A |
G |
13: 55,741,156 (GRCm39) |
E57G |
probably benign |
Het |
| Tnrc18 |
C |
T |
5: 142,761,644 (GRCm39) |
V594I |
unknown |
Het |
| Trmt1 |
A |
T |
8: 85,416,470 (GRCm39) |
K64* |
probably null |
Het |
| Usf2 |
A |
G |
7: 30,654,606 (GRCm39) |
V198A |
probably damaging |
Het |
| Usp14 |
A |
T |
18: 10,007,835 (GRCm39) |
C168S |
probably damaging |
Het |
| Vav3 |
C |
A |
3: 109,470,130 (GRCm39) |
T525K |
probably damaging |
Het |
| Vmn1r52 |
A |
G |
6: 90,156,151 (GRCm39) |
I152V |
probably benign |
Het |
| Wdr19 |
G |
A |
5: 65,401,509 (GRCm39) |
V975I |
possibly 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 |
|
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 |
|
|
|
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'- CCTGTTCAGATTGATAGAAACCAG -3'
(R):5'- AGAGCCCCATGGGTTAATTCTAAC -3'
Sequencing Primer
(F):5'- AGTTTCAATCTCTCTACCAGGTGG -3'
(R):5'- CCAAATTTGGGCAAAACCATTTTG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation