Incidental Mutation 'R1249:Vmn1r217'
| ID |
151709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r217
|
| Ensembl Gene |
ENSMUSG00000115791 |
| Gene Name |
vomeronasal 1 receptor 217 |
| Synonyms |
V1rh14 |
| MMRRC Submission |
039316-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R1249 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
23298004-23298900 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23298818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 28
(H28L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091721]
[ENSMUST00000227110]
[ENSMUST00000228656]
|
| AlphaFold |
Q8R270 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091721
AA Change: H28L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000089314
Gene: ENSMUSG00000115791
AA Change: H28L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:V1R
|
33 |
296 |
7.1e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227110
AA Change: H28L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228656
AA Change: H28L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8b2 |
A |
C |
3: 89,855,111 (GRCm39) |
N586K |
possibly damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,508,765 (GRCm39) |
R685G |
possibly damaging |
Het |
| Cpxm2 |
A |
G |
7: 131,730,079 (GRCm39) |
|
probably null |
Het |
| Dsg4 |
A |
T |
18: 20,579,929 (GRCm39) |
R45* |
probably null |
Het |
| Lama4 |
A |
G |
10: 38,951,474 (GRCm39) |
E1073G |
probably damaging |
Het |
| Mug1 |
A |
G |
6: 121,826,420 (GRCm39) |
I167V |
probably benign |
Het |
| Or4e2 |
G |
A |
14: 52,687,979 (GRCm39) |
M36I |
probably benign |
Het |
| Prox1 |
C |
T |
1: 189,879,258 (GRCm39) |
R640H |
possibly damaging |
Het |
| Rad50 |
T |
A |
11: 53,582,964 (GRCm39) |
E476D |
probably damaging |
Het |
| Sars1 |
A |
G |
3: 108,343,251 (GRCm39) |
V80A |
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,402,948 (GRCm39) |
M1863K |
probably damaging |
Het |
| Slc13a1 |
G |
T |
6: 24,133,649 (GRCm39) |
P201Q |
probably benign |
Het |
| Taok1 |
A |
C |
11: 77,462,463 (GRCm39) |
W209G |
probably damaging |
Het |
|
| Other mutations in Vmn1r217 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03404:Vmn1r217
|
APN |
13 |
23,298,810 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0147:Vmn1r217
|
UTSW |
13 |
23,298,107 (GRCm39) |
missense |
probably benign |
|
|
R0325:Vmn1r217
|
UTSW |
13 |
23,298,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1554:Vmn1r217
|
UTSW |
13 |
23,298,464 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1777:Vmn1r217
|
UTSW |
13 |
23,298,495 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2061:Vmn1r217
|
UTSW |
13 |
23,298,698 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2168:Vmn1r217
|
UTSW |
13 |
23,298,714 (GRCm39) |
nonsense |
probably null |
|
|
R3122:Vmn1r217
|
UTSW |
13 |
23,298,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4832:Vmn1r217
|
UTSW |
13 |
23,298,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6500:Vmn1r217
|
UTSW |
13 |
23,298,073 (GRCm39) |
nonsense |
probably null |
|
|
R6623:Vmn1r217
|
UTSW |
13 |
23,298,846 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6909:Vmn1r217
|
UTSW |
13 |
23,298,108 (GRCm39) |
missense |
probably benign |
|
|
R7708:Vmn1r217
|
UTSW |
13 |
23,298,269 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8223:Vmn1r217
|
UTSW |
13 |
23,298,369 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8774:Vmn1r217
|
UTSW |
13 |
23,298,108 (GRCm39) |
missense |
probably benign |
|
|
R8774-TAIL:Vmn1r217
|
UTSW |
13 |
23,298,108 (GRCm39) |
missense |
probably benign |
|
|
R9129:Vmn1r217
|
UTSW |
13 |
23,298,876 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9182:Vmn1r217
|
UTSW |
13 |
23,298,495 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGATGATGATGGCCTGGACCAC -3'
(R):5'- GAGTTTCAGGGACCTCATCTGCAAC -3'
Sequencing Primer
(F):5'- CCACAGTGAGGAGACTGC -3'
(R):5'- GGGACCTCATCTGCAACATTAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation