Incidental Mutation 'R2284:Vmn1r42'
| ID |
243239 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r42
|
| Ensembl Gene |
ENSMUSG00000068232 |
| Gene Name |
vomeronasal 1 receptor 42 |
| Synonyms |
V1ra6 |
| MMRRC Submission |
040283-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R2284 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
89821500-89822597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89821681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 296
(I296T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089419]
[ENSMUST00000226436]
[ENSMUST00000227279]
|
| AlphaFold |
Q8VBS7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089419
AA Change: I296T
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000086840
Gene: ENSMUSG00000068232
AA Change: I296T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
54 |
318 |
3.6e-132 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226436
AA Change: I296T
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227279
AA Change: I296T
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipoq |
C |
T |
16: 22,976,237 (GRCm39) |
Q213* |
probably null |
Het |
| Adsl |
C |
T |
15: 80,848,096 (GRCm39) |
P278L |
probably damaging |
Het |
| Bcas2 |
T |
C |
3: 103,085,678 (GRCm39) |
S187P |
probably damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,444,099 (GRCm39) |
|
probably null |
Het |
| Cryzl1 |
C |
T |
16: 91,491,193 (GRCm39) |
|
probably benign |
Het |
| Csl |
T |
A |
10: 99,594,321 (GRCm39) |
D248V |
possibly damaging |
Het |
| Dip2a |
A |
C |
10: 76,149,027 (GRCm39) |
V247G |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,173,186 (GRCm39) |
D2509G |
probably damaging |
Het |
| Gldn |
G |
A |
9: 54,193,849 (GRCm39) |
W14* |
probably null |
Het |
| Gm5698 |
C |
T |
1: 31,016,964 (GRCm39) |
R29Q |
possibly damaging |
Het |
| Gm5830 |
A |
T |
1: 78,945,415 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2ird2 |
A |
G |
5: 134,246,025 (GRCm39) |
D761G |
probably benign |
Het |
| Hdac10 |
T |
C |
15: 89,011,607 (GRCm39) |
Q159R |
probably benign |
Het |
| Hhatl |
T |
C |
9: 121,618,648 (GRCm39) |
Y118C |
probably damaging |
Het |
| Iho1 |
C |
T |
9: 108,298,672 (GRCm39) |
E49K |
probably damaging |
Het |
| Klrd1 |
A |
G |
6: 129,575,344 (GRCm39) |
H127R |
probably benign |
Het |
| Krtap31-1 |
C |
T |
11: 99,799,081 (GRCm39) |
Q95* |
probably null |
Het |
| Map2 |
C |
T |
1: 66,453,227 (GRCm39) |
P548S |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,301,674 (GRCm39) |
V1120A |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,245,097 (GRCm39) |
M204K |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,217,837 (GRCm39) |
T2279A |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nlrp1b |
A |
G |
11: 71,047,110 (GRCm39) |
S1084P |
probably benign |
Het |
| Nr2f1 |
C |
A |
13: 78,343,581 (GRCm39) |
V81F |
probably damaging |
Het |
| Nrxn3 |
T |
A |
12: 89,477,135 (GRCm39) |
N803K |
probably damaging |
Het |
| Or5l14 |
A |
G |
2: 87,793,137 (GRCm39) |
L33P |
probably damaging |
Het |
| Ptpre |
A |
G |
7: 135,271,510 (GRCm39) |
H375R |
probably benign |
Het |
| Tsc1 |
G |
A |
2: 28,555,109 (GRCm39) |
V200I |
possibly damaging |
Het |
| Vmn1r67 |
A |
T |
7: 10,181,600 (GRCm39) |
H288L |
probably damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,488,765 (GRCm39) |
N88K |
probably benign |
Het |
| Wt1 |
A |
G |
2: 105,002,666 (GRCm39) |
T511A |
probably benign |
Het |
|
| Other mutations in Vmn1r42 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02055:Vmn1r42
|
APN |
6 |
89,822,571 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02151:Vmn1r42
|
APN |
6 |
89,822,023 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02158:Vmn1r42
|
APN |
6 |
89,822,296 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02731:Vmn1r42
|
APN |
6 |
89,822,407 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02738:Vmn1r42
|
APN |
6 |
89,821,630 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02817:Vmn1r42
|
APN |
6 |
89,822,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
volkan
|
UTSW |
6 |
89,821,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1131:Vmn1r42
|
UTSW |
6 |
89,822,551 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1500:Vmn1r42
|
UTSW |
6 |
89,822,483 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1557:Vmn1r42
|
UTSW |
6 |
89,821,733 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1561:Vmn1r42
|
UTSW |
6 |
89,822,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1574:Vmn1r42
|
UTSW |
6 |
89,822,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1574:Vmn1r42
|
UTSW |
6 |
89,822,059 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1574:Vmn1r42
|
UTSW |
6 |
89,822,059 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1857:Vmn1r42
|
UTSW |
6 |
89,821,597 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1858:Vmn1r42
|
UTSW |
6 |
89,821,597 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1916:Vmn1r42
|
UTSW |
6 |
89,821,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2912:Vmn1r42
|
UTSW |
6 |
89,821,688 (GRCm39) |
missense |
probably benign |
|
|
R4541:Vmn1r42
|
UTSW |
6 |
89,822,533 (GRCm39) |
missense |
probably benign |
|
|
R5085:Vmn1r42
|
UTSW |
6 |
89,821,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5384:Vmn1r42
|
UTSW |
6 |
89,822,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5616:Vmn1r42
|
UTSW |
6 |
89,822,084 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5647:Vmn1r42
|
UTSW |
6 |
89,822,314 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5867:Vmn1r42
|
UTSW |
6 |
89,821,761 (GRCm39) |
nonsense |
probably null |
|
|
R6569:Vmn1r42
|
UTSW |
6 |
89,822,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6852:Vmn1r42
|
UTSW |
6 |
89,821,769 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7054:Vmn1r42
|
UTSW |
6 |
89,822,051 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7399:Vmn1r42
|
UTSW |
6 |
89,822,495 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7958:Vmn1r42
|
UTSW |
6 |
89,822,059 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAGCATGCCATGACTGAC -3'
(R):5'- CTCTAATTGGTACATGGTAGCCCTC -3'
Sequencing Primer
(F):5'- CATGCCATGACTGACAGTTCTGATG -3'
(R):5'- GTACATGGTAGCCCTCTTAAGCATG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation