Incidental Mutation 'R1026:Olfr304'
| ID | 94967 |
|---|
| Institutional Source |
Beutler Lab
|
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| Gene Symbol |
Olfr304
|
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| Ensembl Gene |
ENSMUSG00000062426 |
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| Gene Name | olfactory receptor 304 |
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| Synonyms | GA_x6K02T2NHDJ-9721756-9722757, MOR219-3P |
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| MMRRC Submission |
039128-MU
|
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| Accession Numbers | |
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| Is this an essential gene? |
Probably non essential (E-score: 0.109)
|
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| Stock # | R1026 (G1)
|
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| Quality Score | 225 |
|---|
| Status |
Not validated
|
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| Chromosome | 7 |
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| Chromosomal Location | 86385657-86386658 bp(-) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
T to A
at 86386259 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Methionine to Leucine
at position 134
(M134L)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000076449
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077210]
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077210
AA Change: M134L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
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| SMART Domains |
Protein: ENSMUSP00000076449
Gene: ENSMUSG00000062426
AA Change: M134L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
8.9e-38 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
1.1e-21 |
PFAM |
|
|---|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.5%
- 20x: 87.3%
|
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| Validation Efficiency |
|
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| 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]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alyref |
C |
G |
11: 120,595,932 |
V168L |
probably damaging |
Het |
| Cdc42bpg |
T |
C |
19: 6,317,187 |
C919R |
probably damaging |
Het |
| Cgnl1 |
A |
G |
9: 71,717,431 |
S620P |
possibly damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,875,171 |
T756A |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,988,461 |
I4846T |
possibly damaging |
Het |
| Hebp2 |
G |
T |
10: 18,544,415 |
T90K |
possibly damaging |
Het |
| Map4k5 |
T |
C |
12: 69,874,288 |
K52R |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,264,110 |
M2330L |
possibly damaging |
Het |
| Olfr1053 |
T |
C |
2: 86,315,214 |
Q24R |
possibly damaging |
Het |
| Plekhf1 |
C |
A |
7: 38,221,641 |
A168S |
probably benign |
Het |
| Ppp1r12a |
A |
G |
10: 108,251,859 |
T58A |
probably benign |
Het |
| Prss23 |
T |
A |
7: 89,509,958 |
Y301F |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,197,005 |
Y343C |
probably damaging |
Het |
| Zcchc17 |
C |
T |
4: 130,329,610 |
V128I |
possibly damaging |
Het |
| Zfp960 |
T |
A |
17: 17,088,256 |
C411S |
probably damaging |
Het |
|
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| Other mutations in Olfr304 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01391:Olfr304
|
APN |
7 |
86386000 |
missense |
possibly damaging |
0.95 |
|
IGL02152:Olfr304
|
APN |
7 |
86386043 |
missense |
probably benign |
0.00 |
|
IGL02540:Olfr304
|
APN |
7 |
86386178 |
missense |
possibly damaging |
0.86 |
|
IGL03108:Olfr304
|
APN |
7 |
86385721 |
missense |
possibly damaging |
0.95 |
|
IGL03374:Olfr304
|
APN |
7 |
86386366 |
missense |
probably damaging |
1.00 |
|
R0040:Olfr304
|
UTSW |
7 |
86386507 |
missense |
probably benign |
0.01 |
|
R0130:Olfr304
|
UTSW |
7 |
86386306 |
missense |
probably damaging |
1.00 |
|
R0194:Olfr304
|
UTSW |
7 |
86386374 |
nonsense |
probably null |
|
|
R0267:Olfr304
|
UTSW |
7 |
86386267 |
missense |
possibly damaging |
0.64 |
|
R1865:Olfr304
|
UTSW |
7 |
86386561 |
missense |
probably damaging |
1.00 |
|
R2090:Olfr304
|
UTSW |
7 |
86386081 |
missense |
probably benign |
0.01 |
|
R3607:Olfr304
|
UTSW |
7 |
86385695 |
missense |
probably benign |
|
|
R3861:Olfr304
|
UTSW |
7 |
86386123 |
missense |
possibly damaging |
0.60 |
|
R3909:Olfr304
|
UTSW |
7 |
86385974 |
missense |
probably benign |
0.05 |
|
R4113:Olfr304
|
UTSW |
7 |
86386525 |
missense |
possibly damaging |
0.83 |
|
R5268:Olfr304
|
UTSW |
7 |
86385659 |
makesense |
probably null |
|
|
R5649:Olfr304
|
UTSW |
7 |
86386313 |
missense |
probably damaging |
1.00 |
|
R6343:Olfr304
|
UTSW |
7 |
86385851 |
nonsense |
probably null |
|
|
R7716:Olfr304
|
UTSW |
7 |
86386054 |
missense |
probably benign |
0.22 |
|
X0054:Olfr304
|
UTSW |
7 |
86385730 |
missense |
probably benign |
0.00 |
|
X0063:Olfr304
|
UTSW |
7 |
86386492 |
missense |
probably damaging |
1.00 |
|
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| Predicted Primers |
PCR Primer
(F):5'- CTTGACATCACTGTTCCTCAGGCTG -3'
(R):5'- TGTGTCCATCCCAATCCCAAAGTTC -3'
Sequencing Primer
(F):5'- GCAAATGCTTTGGACTGACC -3'
(R):5'- AGTTCATCATCAATAACCTAACTCAC -3'
|
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| Posted On | 2014-01-05 |
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