Incidental Mutation 'R3967:Vmn2r83'
| ID |
312404 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r83
|
| Ensembl Gene |
ENSMUSG00000091381 |
| Gene Name |
vomeronasal 2, receptor 83 |
| Synonyms |
EG625029 |
| MMRRC Submission |
040838-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R3967 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79304792-79327988 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79327154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 587
(N587K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167976]
|
| AlphaFold |
E9Q0G7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167976
AA Change: N587K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000131426
Gene: ENSMUSG00000091381
AA Change: N587K
| 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: 97.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
G |
T |
8: 122,266,719 (GRCm39) |
Q56K |
possibly damaging |
Het |
| Adam18 |
C |
A |
8: 25,119,726 (GRCm39) |
V518L |
probably benign |
Het |
| Akap6 |
A |
T |
12: 53,188,236 (GRCm39) |
K1883N |
probably damaging |
Het |
| Arhgef12 |
C |
A |
9: 42,916,847 (GRCm39) |
R432L |
probably damaging |
Het |
| Armcx6 |
G |
T |
X: 133,650,505 (GRCm39) |
H109N |
possibly damaging |
Het |
| Ctnnd2 |
C |
A |
15: 30,647,075 (GRCm39) |
A257E |
possibly damaging |
Het |
| Depdc5 |
T |
A |
5: 33,101,459 (GRCm39) |
C322* |
probably null |
Het |
| Enpp7 |
T |
C |
11: 118,881,827 (GRCm39) |
I324T |
probably damaging |
Het |
| Gm14401 |
T |
C |
2: 176,778,789 (GRCm39) |
Y292H |
possibly damaging |
Het |
| Gm6871 |
A |
T |
7: 41,196,148 (GRCm39) |
H196Q |
probably damaging |
Het |
| Gm9964 |
T |
C |
11: 79,187,202 (GRCm39) |
T82A |
unknown |
Het |
| Gria2 |
T |
A |
3: 80,618,084 (GRCm39) |
Q317L |
possibly damaging |
Het |
| Grtp1 |
G |
A |
8: 13,239,705 (GRCm39) |
T134I |
probably benign |
Het |
| Itpkb |
A |
T |
1: 180,155,363 (GRCm39) |
|
probably benign |
Het |
| Kbtbd12 |
A |
G |
6: 88,595,488 (GRCm39) |
V114A |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,158,217 (GRCm39) |
I1023V |
possibly damaging |
Het |
| Myof |
C |
T |
19: 37,889,711 (GRCm39) |
V1287M |
probably damaging |
Het |
| Myof |
T |
G |
19: 38,011,058 (GRCm39) |
D60A |
possibly damaging |
Het |
| Narf |
A |
T |
11: 121,129,247 (GRCm39) |
E10D |
possibly damaging |
Het |
| Nlrx1 |
A |
T |
9: 44,166,722 (GRCm39) |
|
probably benign |
Het |
| Or10a3m |
A |
G |
7: 108,313,060 (GRCm39) |
M155V |
probably benign |
Het |
| Or8b54 |
A |
G |
9: 38,686,664 (GRCm39) |
T38A |
probably benign |
Het |
| Pabpc5 |
A |
G |
X: 118,838,321 (GRCm39) |
E212G |
probably benign |
Het |
| Pidd1 |
A |
G |
7: 141,018,995 (GRCm39) |
F829L |
possibly damaging |
Het |
| Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
| Pkn2 |
A |
G |
3: 142,515,438 (GRCm39) |
C658R |
probably damaging |
Het |
| Psd |
C |
T |
19: 46,312,845 (GRCm39) |
R175H |
probably benign |
Het |
| Rab39 |
G |
A |
9: 53,597,932 (GRCm39) |
A111V |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,318,494 (GRCm39) |
|
probably benign |
Het |
| Rnf39 |
C |
A |
17: 37,254,035 (GRCm39) |
T19K |
probably damaging |
Het |
| Slc16a3 |
C |
T |
11: 120,846,251 (GRCm39) |
T60M |
possibly damaging |
Het |
| Slc26a4 |
G |
T |
12: 31,578,686 (GRCm39) |
H656N |
probably damaging |
Het |
| Slc27a1 |
A |
G |
8: 72,032,431 (GRCm39) |
E184G |
probably damaging |
Het |
| Smc6 |
T |
C |
12: 11,348,327 (GRCm39) |
V742A |
probably benign |
Het |
| Thoc1 |
T |
A |
18: 9,968,787 (GRCm39) |
V186D |
probably damaging |
Het |
| Uhrf2 |
T |
C |
19: 30,057,315 (GRCm39) |
V491A |
probably damaging |
Het |
| Uri1 |
A |
G |
7: 37,664,927 (GRCm39) |
V253A |
possibly damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,650,647 (GRCm39) |
Y120F |
probably benign |
Het |
| Wwox |
G |
A |
8: 115,215,673 (GRCm39) |
A149T |
probably damaging |
Het |
| Zfp536 |
T |
C |
7: 37,173,255 (GRCm39) |
*282W |
probably null |
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 |
|
R2033:Vmn2r83
|
UTSW |
10 |
79,327,653 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3916:Vmn2r83
|
UTSW |
10 |
79,314,744 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- AATTAACAGGGCAACATAGTTGTG -3'
(R):5'- GTGAACAGAAGTCCAAACAAGTTC -3'
Sequencing Primer
(F):5'- GGGCAACATAGTTGTGATAAAAATCC -3'
(R):5'- ACAAGTTCTGTTGCATGATGC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation