Incidental Mutation 'R2033:Vmn2r83'
ID |
221515 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r83
|
Ensembl Gene |
ENSMUSG00000091381 |
Gene Name |
vomeronasal 2, receptor 83 |
Synonyms |
EG625029 |
MMRRC Submission |
040040-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R2033 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
79304792-79327988 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79327653 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 754
(T754A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131426
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167976]
|
AlphaFold |
E9Q0G7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000167976
AA Change: T754A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000131426 Gene: ENSMUSG00000091381 AA Change: T754A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
79 |
473 |
1.5e-33 |
PFAM |
Pfam:NCD3G
|
516 |
569 |
6.2e-22 |
PFAM |
Pfam:7tm_3
|
602 |
837 |
8.1e-52 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
96% (53/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
T |
C |
4: 144,182,953 (GRCm39) |
T172A |
probably benign |
Het |
Atp6v1c1 |
T |
C |
15: 38,674,210 (GRCm39) |
|
probably null |
Het |
Bpifc |
G |
A |
10: 85,836,496 (GRCm39) |
T3I |
possibly damaging |
Het |
Car12 |
A |
G |
9: 66,624,840 (GRCm39) |
|
probably null |
Het |
Ccrl2 |
A |
G |
9: 110,884,938 (GRCm39) |
F187L |
possibly damaging |
Het |
Cep250 |
G |
A |
2: 155,812,812 (GRCm39) |
R544H |
probably damaging |
Het |
Col4a3 |
T |
G |
1: 82,695,732 (GRCm39) |
|
probably benign |
Het |
Cyb5r2 |
T |
C |
7: 107,356,114 (GRCm39) |
|
probably null |
Het |
Elfn2 |
A |
G |
15: 78,556,096 (GRCm39) |
V817A |
probably damaging |
Het |
Eln |
C |
T |
5: 134,738,960 (GRCm39) |
|
probably null |
Het |
Eml5 |
T |
C |
12: 98,757,645 (GRCm39) |
E1896G |
possibly damaging |
Het |
G530012D18Rik |
CACAGA |
CA |
1: 85,504,875 (GRCm39) |
|
probably null |
Het |
Galnt11 |
C |
T |
5: 25,452,536 (GRCm39) |
T16I |
probably damaging |
Het |
Gars1 |
C |
T |
6: 55,054,708 (GRCm39) |
H672Y |
probably benign |
Het |
Gpr155 |
T |
A |
2: 73,178,526 (GRCm39) |
H726L |
probably benign |
Het |
Inpp1 |
T |
A |
1: 52,829,332 (GRCm39) |
N229I |
possibly damaging |
Het |
Isg20 |
A |
C |
7: 78,566,281 (GRCm39) |
I77L |
probably damaging |
Het |
Kit |
G |
C |
5: 75,797,977 (GRCm39) |
D422H |
possibly damaging |
Het |
Lonp2 |
A |
G |
8: 87,435,570 (GRCm39) |
E602G |
possibly damaging |
Het |
Mink1 |
T |
C |
11: 70,503,334 (GRCm39) |
V1143A |
probably damaging |
Het |
Myh6 |
A |
C |
14: 55,201,102 (GRCm39) |
L120R |
probably benign |
Het |
Myo18a |
T |
A |
11: 77,733,925 (GRCm39) |
|
probably null |
Het |
Nphs2 |
T |
C |
1: 156,151,308 (GRCm39) |
V249A |
probably damaging |
Het |
Npsr1 |
A |
G |
9: 24,224,648 (GRCm39) |
K342E |
probably benign |
Het |
Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
Nudt18 |
G |
T |
14: 70,817,056 (GRCm39) |
G162V |
possibly damaging |
Het |
Odam |
A |
G |
5: 88,040,278 (GRCm39) |
D248G |
probably benign |
Het |
Or1e30 |
T |
C |
11: 73,678,264 (GRCm39) |
S167P |
probably benign |
Het |
Or4c119 |
A |
G |
2: 88,987,498 (GRCm39) |
V7A |
probably damaging |
Het |
Or51d1 |
A |
G |
7: 102,348,369 (GRCm39) |
E308G |
probably benign |
Het |
Or51h5 |
T |
C |
7: 102,577,615 (GRCm39) |
V260A |
probably benign |
Het |
Or8b3 |
G |
T |
9: 38,314,669 (GRCm39) |
M166I |
probably damaging |
Het |
Pde4b |
G |
T |
4: 102,462,492 (GRCm39) |
D723Y |
probably benign |
Het |
Pdzrn3 |
T |
C |
6: 101,127,915 (GRCm39) |
E917G |
probably damaging |
Het |
Ppip5k1 |
C |
T |
2: 121,168,108 (GRCm39) |
R715H |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,505,216 (GRCm39) |
|
probably benign |
Het |
Ptp4a3 |
A |
G |
15: 73,625,618 (GRCm39) |
Y21C |
probably damaging |
Het |
Ptprk |
C |
A |
10: 28,468,763 (GRCm39) |
|
probably benign |
Het |
Rfesd |
C |
A |
13: 76,150,991 (GRCm39) |
|
probably null |
Het |
Rtel1 |
A |
T |
2: 180,993,656 (GRCm39) |
K592* |
probably null |
Het |
Siah1a |
T |
A |
8: 87,451,898 (GRCm39) |
K195N |
probably damaging |
Het |
Slc5a5 |
G |
T |
8: 71,341,231 (GRCm39) |
D369E |
probably damaging |
Het |
Slc6a6 |
A |
T |
6: 91,701,891 (GRCm39) |
I100F |
probably benign |
Het |
Smtn |
T |
C |
11: 3,467,781 (GRCm39) |
I913V |
probably benign |
Het |
Stk17b |
A |
G |
1: 53,800,235 (GRCm39) |
S248P |
probably damaging |
Het |
Sun1 |
C |
T |
5: 139,211,193 (GRCm39) |
H149Y |
probably damaging |
Het |
Taar5 |
T |
C |
10: 23,846,992 (GRCm39) |
I130T |
possibly damaging |
Het |
Tmem132b |
G |
T |
5: 125,826,353 (GRCm39) |
V448F |
probably damaging |
Het |
Tmem94 |
C |
A |
11: 115,685,154 (GRCm39) |
N888K |
possibly damaging |
Het |
Trpc1 |
T |
C |
9: 95,588,896 (GRCm39) |
N742S |
probably damaging |
Het |
Ttbk2 |
T |
C |
2: 120,637,330 (GRCm39) |
T112A |
probably damaging |
Het |
Tubb2a |
A |
T |
13: 34,259,439 (GRCm39) |
L117Q |
probably damaging |
Het |
Vmn1r60 |
T |
A |
7: 5,547,819 (GRCm39) |
M94L |
probably benign |
Het |
|
Other mutations in Vmn2r83 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00226:Vmn2r83
|
APN |
10 |
79,314,805 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01096:Vmn2r83
|
APN |
10 |
79,313,662 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01542:Vmn2r83
|
APN |
10 |
79,314,846 (GRCm39) |
missense |
probably benign |
0.30 |
IGL01803:Vmn2r83
|
APN |
10 |
79,304,894 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02110:Vmn2r83
|
APN |
10 |
79,327,534 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02347:Vmn2r83
|
APN |
10 |
79,316,067 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL02417:Vmn2r83
|
APN |
10 |
79,314,881 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02544:Vmn2r83
|
APN |
10 |
79,317,293 (GRCm39) |
splice site |
probably benign |
|
IGL02683:Vmn2r83
|
APN |
10 |
79,327,115 (GRCm39) |
missense |
probably benign |
|
IGL02976:Vmn2r83
|
APN |
10 |
79,304,832 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4378001:Vmn2r83
|
UTSW |
10 |
79,304,849 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4468001:Vmn2r83
|
UTSW |
10 |
79,313,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R0092:Vmn2r83
|
UTSW |
10 |
79,327,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R1391:Vmn2r83
|
UTSW |
10 |
79,314,931 (GRCm39) |
missense |
probably damaging |
0.96 |
R1539:Vmn2r83
|
UTSW |
10 |
79,327,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R1575:Vmn2r83
|
UTSW |
10 |
79,314,956 (GRCm39) |
missense |
probably damaging |
0.98 |
R3916:Vmn2r83
|
UTSW |
10 |
79,314,744 (GRCm39) |
missense |
probably benign |
0.01 |
R3967:Vmn2r83
|
UTSW |
10 |
79,327,154 (GRCm39) |
missense |
probably benign |
0.00 |
R4840:Vmn2r83
|
UTSW |
10 |
79,313,682 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5063:Vmn2r83
|
UTSW |
10 |
79,314,921 (GRCm39) |
missense |
probably benign |
0.04 |
R5630:Vmn2r83
|
UTSW |
10 |
79,327,785 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5707:Vmn2r83
|
UTSW |
10 |
79,327,183 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5980:Vmn2r83
|
UTSW |
10 |
79,314,626 (GRCm39) |
missense |
probably benign |
0.04 |
R6294:Vmn2r83
|
UTSW |
10 |
79,313,688 (GRCm39) |
missense |
probably damaging |
0.99 |
R6302:Vmn2r83
|
UTSW |
10 |
79,304,837 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6769:Vmn2r83
|
UTSW |
10 |
79,313,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R6986:Vmn2r83
|
UTSW |
10 |
79,316,093 (GRCm39) |
missense |
probably benign |
|
R7221:Vmn2r83
|
UTSW |
10 |
79,316,001 (GRCm39) |
missense |
probably benign |
0.02 |
R7376:Vmn2r83
|
UTSW |
10 |
79,314,790 (GRCm39) |
missense |
probably benign |
0.00 |
R7431:Vmn2r83
|
UTSW |
10 |
79,327,306 (GRCm39) |
missense |
probably damaging |
0.99 |
R7501:Vmn2r83
|
UTSW |
10 |
79,327,771 (GRCm39) |
missense |
probably damaging |
0.98 |
R7526:Vmn2r83
|
UTSW |
10 |
79,327,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R7663:Vmn2r83
|
UTSW |
10 |
79,314,956 (GRCm39) |
missense |
probably damaging |
0.98 |
R7881:Vmn2r83
|
UTSW |
10 |
79,314,261 (GRCm39) |
missense |
probably benign |
0.01 |
R7939:Vmn2r83
|
UTSW |
10 |
79,314,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R8314:Vmn2r83
|
UTSW |
10 |
79,317,313 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8364:Vmn2r83
|
UTSW |
10 |
79,316,037 (GRCm39) |
missense |
probably benign |
0.12 |
R8802:Vmn2r83
|
UTSW |
10 |
79,314,261 (GRCm39) |
missense |
probably benign |
0.01 |
R8947:Vmn2r83
|
UTSW |
10 |
79,304,873 (GRCm39) |
missense |
probably benign |
0.00 |
R8969:Vmn2r83
|
UTSW |
10 |
79,313,853 (GRCm39) |
missense |
probably benign |
0.15 |
R8983:Vmn2r83
|
UTSW |
10 |
79,327,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R9018:Vmn2r83
|
UTSW |
10 |
79,316,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R9082:Vmn2r83
|
UTSW |
10 |
79,304,894 (GRCm39) |
missense |
probably benign |
0.00 |
R9390:Vmn2r83
|
UTSW |
10 |
79,317,322 (GRCm39) |
nonsense |
probably null |
|
X0026:Vmn2r83
|
UTSW |
10 |
79,314,486 (GRCm39) |
missense |
probably benign |
|
X0026:Vmn2r83
|
UTSW |
10 |
79,304,849 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Vmn2r83
|
UTSW |
10 |
79,314,756 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGCTGCTGATATCACAGGTCC -3'
(R):5'- TTAGAAGGCTTGAGCTGGAAGC -3'
Sequencing Primer
(F):5'- GCTGATATCACAGGTCCCTAATTTC -3'
(R):5'- AGATGGAGAACATTTCCATAGCC -3'
|
Posted On |
2014-08-25 |