Incidental Mutation 'R6356:Vmn2r52'
| ID |
513009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r52
|
| Ensembl Gene |
ENSMUSG00000091930 |
| Gene Name |
vomeronasal 2, receptor 52 |
| Synonyms |
EG384534 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R6356 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
9892579-9910213 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 9902926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 501
(M501L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129352
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164918]
|
| AlphaFold |
L7N2B2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164918
AA Change: M501L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000129352
Gene: ENSMUSG00000091930
AA Change: M501L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
469 |
8.1e-29 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
1.5e-19 |
PFAM |
|
Pfam:7tm_3
|
596 |
833 |
1.1e-55 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 91.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,161,292 (GRCm39) |
S152T |
probably benign |
Het |
| Aass |
A |
G |
6: 23,093,901 (GRCm39) |
V140A |
probably damaging |
Het |
| Add1 |
A |
G |
5: 34,776,740 (GRCm39) |
N32S |
probably null |
Het |
| Agap2 |
T |
C |
10: 126,918,865 (GRCm39) |
S414P |
unknown |
Het |
| Arhgef38 |
A |
G |
3: 132,846,638 (GRCm39) |
F376L |
probably benign |
Het |
| Cd22 |
A |
T |
7: 30,577,127 (GRCm39) |
I60N |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,274,626 (GRCm39) |
D488V |
probably damaging |
Het |
| Cfap251 |
G |
A |
5: 123,392,729 (GRCm39) |
|
probably benign |
Het |
| Cox16 |
T |
G |
12: 81,519,115 (GRCm39) |
D148A |
probably damaging |
Het |
| Dclre1b |
G |
A |
3: 103,715,471 (GRCm39) |
T9I |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,743,686 (GRCm39) |
V1176A |
probably benign |
Het |
| Echdc1 |
A |
C |
10: 29,220,522 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
A |
G |
11: 104,784,533 (GRCm39) |
K2772E |
probably benign |
Het |
| Efnb3 |
G |
A |
11: 69,446,966 (GRCm39) |
A248V |
probably benign |
Het |
| Glud1 |
A |
G |
14: 34,033,173 (GRCm39) |
R107G |
probably benign |
Het |
| Gtf2h4 |
A |
G |
17: 35,980,647 (GRCm39) |
S279P |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,791,402 (GRCm39) |
C2579R |
probably damaging |
Het |
| Igkv15-103 |
A |
G |
6: 68,414,441 (GRCm39) |
|
probably benign |
Het |
| Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
| Krtap5-2 |
T |
C |
7: 141,729,119 (GRCm39) |
|
probably benign |
Het |
| Lcn11 |
G |
T |
2: 25,668,132 (GRCm39) |
G97* |
probably null |
Het |
| Lrrtm3 |
G |
A |
10: 63,765,943 (GRCm39) |
T548M |
probably benign |
Het |
| Map3k2 |
A |
T |
18: 32,345,023 (GRCm39) |
T283S |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,872,493 (GRCm39) |
K2292E |
possibly damaging |
Het |
| Med23 |
G |
T |
10: 24,764,311 (GRCm39) |
C98F |
probably damaging |
Het |
| Morc1 |
T |
A |
16: 48,257,652 (GRCm39) |
F26Y |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,366,416 (GRCm39) |
M2160K |
probably benign |
Het |
| Myocd |
T |
C |
11: 65,109,396 (GRCm39) |
|
probably null |
Het |
| Nup160 |
T |
A |
2: 90,542,279 (GRCm39) |
|
probably null |
Het |
| Obi1 |
A |
G |
14: 104,716,313 (GRCm39) |
S687P |
probably damaging |
Het |
| Olr1 |
A |
T |
6: 129,470,522 (GRCm39) |
L215Q |
probably benign |
Het |
| Or5ak23 |
T |
A |
2: 85,245,031 (GRCm39) |
Q64L |
probably damaging |
Het |
| Or6c216 |
T |
A |
10: 129,678,477 (GRCm39) |
S145C |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,947,440 (GRCm39) |
K1414R |
possibly damaging |
Het |
| Ppfibp2 |
T |
C |
7: 107,280,976 (GRCm39) |
V96A |
probably benign |
Het |
| Prim1 |
T |
A |
10: 127,859,704 (GRCm39) |
Y299N |
probably damaging |
Het |
| Rsf1 |
T |
C |
7: 97,311,141 (GRCm39) |
S624P |
probably benign |
Het |
| Samd4b |
A |
T |
7: 28,101,018 (GRCm39) |
I687N |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 109,971,830 (GRCm39) |
F801L |
probably damaging |
Het |
| St6gal2 |
T |
C |
17: 55,789,014 (GRCm39) |
I16T |
probably damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Trim8 |
T |
G |
19: 46,503,797 (GRCm39) |
S450A |
probably benign |
Het |
| Trp53bp2 |
A |
G |
1: 182,276,562 (GRCm39) |
T848A |
probably benign |
Het |
| Vmn2r24 |
A |
G |
6: 123,783,368 (GRCm39) |
S523G |
possibly damaging |
Het |
| Vmn2r68 |
C |
T |
7: 84,883,048 (GRCm39) |
V235M |
possibly damaging |
Het |
| Zfhx3 |
G |
A |
8: 109,673,251 (GRCm39) |
V1434M |
probably damaging |
Het |
| Zmym5 |
A |
T |
14: 57,031,622 (GRCm39) |
N495K |
possibly damaging |
Het |
|
| Other mutations in Vmn2r52 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Vmn2r52
|
APN |
7 |
9,903,023 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL00328:Vmn2r52
|
APN |
7 |
9,905,344 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL00980:Vmn2r52
|
APN |
7 |
9,905,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01468:Vmn2r52
|
APN |
7 |
9,892,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01660:Vmn2r52
|
APN |
7 |
9,893,107 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02215:Vmn2r52
|
APN |
7 |
9,905,029 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03030:Vmn2r52
|
APN |
7 |
9,892,799 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03212:Vmn2r52
|
APN |
7 |
9,893,474 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
FR4589:Vmn2r52
|
UTSW |
7 |
9,892,947 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4283001:Vmn2r52
|
UTSW |
7 |
9,904,756 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0184:Vmn2r52
|
UTSW |
7 |
9,893,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0190:Vmn2r52
|
UTSW |
7 |
9,905,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0240:Vmn2r52
|
UTSW |
7 |
9,893,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0240:Vmn2r52
|
UTSW |
7 |
9,893,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0257:Vmn2r52
|
UTSW |
7 |
9,904,982 (GRCm39) |
nonsense |
probably null |
|
|
R0310:Vmn2r52
|
UTSW |
7 |
9,893,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1831:Vmn2r52
|
UTSW |
7 |
9,893,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1862:Vmn2r52
|
UTSW |
7 |
9,907,333 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2484:Vmn2r52
|
UTSW |
7 |
9,903,058 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2510:Vmn2r52
|
UTSW |
7 |
9,904,795 (GRCm39) |
missense |
probably benign |
|
|
R3625:Vmn2r52
|
UTSW |
7 |
9,893,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3803:Vmn2r52
|
UTSW |
7 |
9,907,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4013:Vmn2r52
|
UTSW |
7 |
9,904,603 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4283:Vmn2r52
|
UTSW |
7 |
9,904,565 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4324:Vmn2r52
|
UTSW |
7 |
9,904,940 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4578:Vmn2r52
|
UTSW |
7 |
9,904,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4806:Vmn2r52
|
UTSW |
7 |
9,893,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5083:Vmn2r52
|
UTSW |
7 |
9,893,392 (GRCm39) |
nonsense |
probably null |
|
|
R5249:Vmn2r52
|
UTSW |
7 |
9,910,197 (GRCm39) |
missense |
probably benign |
|
|
R5306:Vmn2r52
|
UTSW |
7 |
9,904,672 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5332:Vmn2r52
|
UTSW |
7 |
9,903,052 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5617:Vmn2r52
|
UTSW |
7 |
9,904,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5643:Vmn2r52
|
UTSW |
7 |
9,905,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5749:Vmn2r52
|
UTSW |
7 |
9,892,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5763:Vmn2r52
|
UTSW |
7 |
9,905,231 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6103:Vmn2r52
|
UTSW |
7 |
9,905,327 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6148:Vmn2r52
|
UTSW |
7 |
9,905,090 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6412:Vmn2r52
|
UTSW |
7 |
9,904,936 (GRCm39) |
missense |
probably benign |
|
|
R6657:Vmn2r52
|
UTSW |
7 |
9,893,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6997:Vmn2r52
|
UTSW |
7 |
9,902,998 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7395:Vmn2r52
|
UTSW |
7 |
9,904,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7621:Vmn2r52
|
UTSW |
7 |
9,907,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7691:Vmn2r52
|
UTSW |
7 |
9,893,109 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7852:Vmn2r52
|
UTSW |
7 |
9,892,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7908:Vmn2r52
|
UTSW |
7 |
9,896,877 (GRCm39) |
missense |
probably benign |
|
|
R7909:Vmn2r52
|
UTSW |
7 |
9,896,877 (GRCm39) |
missense |
probably benign |
|
|
R7912:Vmn2r52
|
UTSW |
7 |
9,896,877 (GRCm39) |
missense |
probably benign |
|
|
R7913:Vmn2r52
|
UTSW |
7 |
9,896,877 (GRCm39) |
missense |
probably benign |
|
|
R7938:Vmn2r52
|
UTSW |
7 |
9,893,300 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8884:Vmn2r52
|
UTSW |
7 |
9,892,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9003:Vmn2r52
|
UTSW |
7 |
9,905,181 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9140:Vmn2r52
|
UTSW |
7 |
9,892,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9141:Vmn2r52
|
UTSW |
7 |
9,905,331 (GRCm39) |
nonsense |
probably null |
|
|
R9500:Vmn2r52
|
UTSW |
7 |
9,905,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Vmn2r52
|
UTSW |
7 |
9,893,476 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9564:Vmn2r52
|
UTSW |
7 |
9,905,182 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9565:Vmn2r52
|
UTSW |
7 |
9,893,476 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9597:Vmn2r52
|
UTSW |
7 |
9,904,719 (GRCm39) |
nonsense |
probably null |
|
|
R9743:Vmn2r52
|
UTSW |
7 |
9,904,606 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Z1176:Vmn2r52
|
UTSW |
7 |
9,905,127 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Vmn2r52
|
UTSW |
7 |
9,903,117 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAAATGGTTCTGATGTGACATAGG -3'
(R):5'- CCACTTTACTAATCCTCTTGGGGAC -3'
Sequencing Primer
(F):5'- TGTGACATAGGTATATTTTATGCGTG -3'
(R):5'- TGGGGACAAAGTAATTATGAAACAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation