Incidental Mutation 'R6422:Or51v14'
| ID |
518210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51v14
|
| Ensembl Gene |
ENSMUSG00000045132 |
| Gene Name |
olfactory receptor family 51 subfamily V member 14 |
| Synonyms |
MOR4-1, Olfr620, GA_x6K02T2PBJ9-6335095-6334154 |
| MMRRC Submission |
044563-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R6422 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
103260617-103261558 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 103261221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 113
(E113A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052152]
[ENSMUST00000217603]
|
| AlphaFold |
E9PZ66 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052152
AA Change: E113A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000061764
Gene: ENSMUSG00000045132
AA Change: E113A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
312 |
1.6e-137 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
4.5e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215752
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217603
AA Change: E113A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 91.8%
|
| Validation Efficiency |
97% (30/31) |
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430005L14Rik |
T |
A |
4: 154,045,381 (GRCm39) |
F137I |
probably damaging |
Het |
| Adam11 |
A |
G |
11: 102,665,109 (GRCm39) |
K417R |
possibly damaging |
Het |
| Btbd9 |
G |
A |
17: 30,749,230 (GRCm39) |
A28V |
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,492,626 (GRCm39) |
Y1890H |
probably damaging |
Het |
| Castor2 |
T |
A |
5: 134,164,549 (GRCm39) |
M170K |
probably benign |
Het |
| Cep162 |
G |
T |
9: 87,114,069 (GRCm39) |
N334K |
possibly damaging |
Het |
| Cep85l |
A |
T |
10: 53,167,876 (GRCm39) |
M634K |
possibly damaging |
Het |
| Col20a1 |
C |
A |
2: 180,656,612 (GRCm39) |
T1161N |
possibly damaging |
Het |
| Dip2b |
T |
A |
15: 100,096,892 (GRCm39) |
D1155E |
probably damaging |
Het |
| Dlst |
T |
A |
12: 85,177,659 (GRCm39) |
|
probably null |
Het |
| Dsc1 |
A |
C |
18: 20,228,090 (GRCm39) |
L422R |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,747,603 (GRCm39) |
W1699R |
probably damaging |
Het |
| Gm14443 |
G |
A |
2: 175,012,174 (GRCm39) |
Q91* |
probably null |
Het |
| Gm8159 |
T |
C |
14: 15,850,210 (GRCm39) |
I143T |
probably damaging |
Het |
| Il4i1 |
G |
T |
7: 44,489,560 (GRCm39) |
A442S |
probably damaging |
Het |
| Kif26a |
T |
G |
12: 112,135,309 (GRCm39) |
L337R |
possibly damaging |
Het |
| Lat2 |
T |
C |
5: 134,632,015 (GRCm39) |
D144G |
probably benign |
Het |
| Ndst1 |
G |
T |
18: 60,836,025 (GRCm39) |
H419Q |
probably benign |
Het |
| Notch4 |
T |
C |
17: 34,803,533 (GRCm39) |
I1484T |
probably benign |
Het |
| Paxbp1 |
A |
T |
16: 90,820,332 (GRCm39) |
M697K |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,937,992 (GRCm39) |
Y1246C |
probably damaging |
Het |
| Prr5 |
C |
T |
15: 84,578,005 (GRCm39) |
R96C |
probably damaging |
Het |
| Ptpn7 |
G |
T |
1: 135,062,240 (GRCm39) |
C62F |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sall2 |
A |
C |
14: 52,550,181 (GRCm39) |
*1003G |
probably null |
Het |
| Slc5a4b |
C |
A |
10: 75,939,696 (GRCm39) |
V147F |
probably damaging |
Het |
| Snapc4 |
A |
G |
2: 26,258,315 (GRCm39) |
W702R |
probably benign |
Het |
| Tbc1d32 |
A |
T |
10: 55,904,157 (GRCm39) |
C1203* |
probably null |
Het |
| Tmprss11d |
T |
A |
5: 86,457,284 (GRCm39) |
Y125F |
probably damaging |
Het |
| Tpp1 |
G |
A |
7: 105,396,163 (GRCm39) |
T512I |
probably benign |
Het |
| Tyw5 |
G |
A |
1: 57,440,570 (GRCm39) |
A64V |
probably damaging |
Het |
|
| Other mutations in Or51v14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02807:Or51v14
|
APN |
7 |
103,261,198 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0496:Or51v14
|
UTSW |
7 |
103,261,204 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0834:Or51v14
|
UTSW |
7 |
103,261,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1957:Or51v14
|
UTSW |
7 |
103,260,618 (GRCm39) |
makesense |
probably null |
|
|
R1958:Or51v14
|
UTSW |
7 |
103,260,618 (GRCm39) |
makesense |
probably null |
|
|
R2158:Or51v14
|
UTSW |
7 |
103,261,443 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3797:Or51v14
|
UTSW |
7 |
103,260,654 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5389:Or51v14
|
UTSW |
7 |
103,260,797 (GRCm39) |
nonsense |
probably null |
|
|
R6292:Or51v14
|
UTSW |
7 |
103,261,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6374:Or51v14
|
UTSW |
7 |
103,261,128 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6586:Or51v14
|
UTSW |
7 |
103,261,183 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7234:Or51v14
|
UTSW |
7 |
103,261,089 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7393:Or51v14
|
UTSW |
7 |
103,261,198 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7855:Or51v14
|
UTSW |
7 |
103,260,979 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7900:Or51v14
|
UTSW |
7 |
103,260,900 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8159:Or51v14
|
UTSW |
7 |
103,261,347 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8265:Or51v14
|
UTSW |
7 |
103,261,048 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8314:Or51v14
|
UTSW |
7 |
103,261,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9182:Or51v14
|
UTSW |
7 |
103,261,063 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTTGGTGCAGGCAGAAAG -3'
(R):5'- TGATTCGGACTGAGCTGAGC -3'
Sequencing Primer
(F):5'- GAGGCCTGCAGTAATTTAAGAACTTC -3'
(R):5'- ACTGAGCTGAGCCTGCAC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation