Incidental Mutation 'R2927:Vmn1r119'
| ID |
255796 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r119
|
| Ensembl Gene |
ENSMUSG00000094010 |
| Gene Name |
vomeronasal 1 receptor 119 |
| Synonyms |
Gm1447, LOC384696 |
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R2927 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
20745457-20746380 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 20746056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 109
(V109I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164683]
|
| AlphaFold |
E9Q4H3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164683
AA Change: V109I
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127126
Gene: ENSMUSG00000094010
AA Change: V109I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
8 |
298 |
7.4e-17 |
PFAM |
|
Pfam:7tm_1
|
31 |
290 |
2.1e-7 |
PFAM |
|
Pfam:V1R
|
41 |
298 |
2e-18 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Dsc2 |
T |
C |
18: 20,178,558 (GRCm39) |
Y282C |
probably damaging |
Het |
| Dsg1b |
C |
A |
18: 20,538,308 (GRCm39) |
P638Q |
probably benign |
Het |
| Eea1 |
C |
T |
10: 95,849,220 (GRCm39) |
S486L |
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Ift22 |
A |
G |
5: 136,941,799 (GRCm39) |
D147G |
probably damaging |
Het |
| Igsf10 |
T |
A |
3: 59,236,848 (GRCm39) |
Q1111L |
probably benign |
Het |
| Ikzf1 |
T |
C |
11: 11,719,324 (GRCm39) |
Y344H |
probably damaging |
Het |
| Kif1c |
T |
A |
11: 70,617,140 (GRCm39) |
C813S |
probably benign |
Het |
| Krt16 |
A |
G |
11: 100,139,625 (GRCm39) |
L31P |
unknown |
Het |
| Lrrc49 |
G |
A |
9: 60,501,029 (GRCm39) |
R633* |
probably null |
Het |
| Mllt6 |
T |
A |
11: 97,571,602 (GRCm39) |
F1080I |
probably damaging |
Het |
| Or52ae7 |
A |
G |
7: 103,120,089 (GRCm39) |
Y281C |
probably damaging |
Het |
| Plxnc1 |
T |
G |
10: 94,629,154 (GRCm39) |
|
probably null |
Het |
| Ppp4r2 |
T |
C |
6: 100,838,426 (GRCm39) |
Y115H |
probably damaging |
Het |
| Pramel1 |
T |
A |
4: 143,125,388 (GRCm39) |
D437E |
probably benign |
Het |
| Pstpip2 |
C |
A |
18: 77,949,589 (GRCm39) |
Q133K |
probably damaging |
Het |
| Ptgs2 |
A |
T |
1: 149,977,011 (GRCm39) |
T41S |
possibly damaging |
Het |
| Slc36a1 |
G |
A |
11: 55,123,201 (GRCm39) |
A389T |
probably damaging |
Het |
| Vav2 |
A |
G |
2: 27,316,403 (GRCm39) |
V30A |
probably damaging |
Het |
|
| Other mutations in Vmn1r119 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01363:Vmn1r119
|
APN |
7 |
20,746,056 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02218:Vmn1r119
|
APN |
7 |
20,745,561 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0639:Vmn1r119
|
UTSW |
7 |
20,745,593 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1844:Vmn1r119
|
UTSW |
7 |
20,746,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2250:Vmn1r119
|
UTSW |
7 |
20,746,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4279:Vmn1r119
|
UTSW |
7 |
20,745,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5022:Vmn1r119
|
UTSW |
7 |
20,746,245 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6160:Vmn1r119
|
UTSW |
7 |
20,745,740 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6523:Vmn1r119
|
UTSW |
7 |
20,745,777 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7013:Vmn1r119
|
UTSW |
7 |
20,745,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7218:Vmn1r119
|
UTSW |
7 |
20,745,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7320:Vmn1r119
|
UTSW |
7 |
20,746,271 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8233:Vmn1r119
|
UTSW |
7 |
20,745,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8550:Vmn1r119
|
UTSW |
7 |
20,745,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9151:Vmn1r119
|
UTSW |
7 |
20,745,593 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9300:Vmn1r119
|
UTSW |
7 |
20,745,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9343:Vmn1r119
|
UTSW |
7 |
20,746,358 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9345:Vmn1r119
|
UTSW |
7 |
20,746,034 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9661:Vmn1r119
|
UTSW |
7 |
20,746,224 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
X0060:Vmn1r119
|
UTSW |
7 |
20,746,208 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Z1177:Vmn1r119
|
UTSW |
7 |
20,745,705 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCCTACACTGAATCCAGAAG -3'
(R):5'- GCCCAGACAGGTGATTTTAAGC -3'
Sequencing Primer
(F):5'- GAACAACTTTCTTTTCGAGTCAGTG -3'
(R):5'- CCAGACAGGTGATTTTAAGCCACATG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation