Incidental Mutation 'R6592:Or4a67'
| ID |
524616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4a67
|
| Ensembl Gene |
ENSMUSG00000075115 |
| Gene Name |
olfactory receptor family 4 subfamily A member 67 |
| Synonyms |
MOR225-12, GA_x6K02T2Q125-50243231-50242221, Olfr1200 |
| MMRRC Submission |
044716-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R6592 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
88597647-88598657 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 88598471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 63
(H63Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099811]
[ENSMUST00000217588]
|
| AlphaFold |
A2ATJ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099811
AA Change: H63Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097399
Gene: ENSMUSG00000075115
AA Change: H63Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
302 |
3.2e-47 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
2.3e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217588
AA Change: H63Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
94% (31/33) |
| 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 |
|---|
| Acss3 |
A |
G |
10: 106,859,579 (GRCm39) |
V340A |
possibly damaging |
Het |
| Btbd17 |
T |
C |
11: 114,682,302 (GRCm39) |
Y470C |
probably damaging |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Cyp4v3 |
A |
T |
8: 45,760,018 (GRCm39) |
N511K |
probably benign |
Het |
| Efcab5 |
G |
T |
11: 77,004,436 (GRCm39) |
Q1097K |
possibly damaging |
Het |
| Epha7 |
T |
C |
4: 28,813,482 (GRCm39) |
|
probably null |
Het |
| Exoc6 |
A |
G |
19: 37,560,360 (GRCm39) |
T126A |
probably benign |
Het |
| Fnip2 |
T |
C |
3: 79,389,015 (GRCm39) |
Q572R |
probably benign |
Het |
| Gm17430 |
C |
T |
18: 9,726,514 (GRCm39) |
V53I |
probably benign |
Het |
| Gpr149 |
T |
C |
3: 62,437,961 (GRCm39) |
D732G |
probably benign |
Het |
| Hdlbp |
A |
G |
1: 93,340,083 (GRCm39) |
|
probably null |
Het |
| Herc2 |
A |
G |
7: 55,857,438 (GRCm39) |
|
probably null |
Het |
| Htt |
C |
T |
5: 35,034,388 (GRCm39) |
T1953I |
possibly damaging |
Het |
| Lgmn |
C |
T |
12: 102,370,529 (GRCm39) |
V134I |
probably damaging |
Het |
| Lhfpl7 |
A |
G |
5: 113,382,329 (GRCm39) |
Y34C |
probably damaging |
Het |
| Lysmd1 |
A |
G |
3: 95,045,197 (GRCm39) |
S148G |
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,002,947 (GRCm39) |
D1054G |
probably damaging |
Het |
| Mcph1 |
A |
G |
8: 18,718,983 (GRCm39) |
T640A |
probably damaging |
Het |
| Nat10 |
T |
C |
2: 103,584,495 (GRCm39) |
E94G |
probably null |
Het |
| Or5v1 |
T |
A |
17: 37,809,988 (GRCm39) |
W149R |
probably damaging |
Het |
| Pgm3 |
A |
G |
9: 86,441,496 (GRCm39) |
V367A |
possibly damaging |
Het |
| Ppp1r1a |
A |
C |
15: 103,439,799 (GRCm39) |
D164E |
probably damaging |
Het |
| Proca1 |
G |
T |
11: 78,095,779 (GRCm39) |
S137I |
probably benign |
Het |
| Serinc5 |
T |
C |
13: 92,844,634 (GRCm39) |
F459L |
possibly damaging |
Het |
| Slc12a8 |
T |
C |
16: 33,437,626 (GRCm39) |
|
probably null |
Het |
| Slc51a |
T |
C |
16: 32,294,621 (GRCm39) |
D321G |
probably damaging |
Het |
| Tchhl1 |
T |
A |
3: 93,378,116 (GRCm39) |
D273E |
probably damaging |
Het |
| Tlk1 |
G |
A |
2: 70,544,497 (GRCm39) |
R713C |
probably damaging |
Het |
| Tpr |
T |
C |
1: 150,287,656 (GRCm39) |
I465T |
possibly damaging |
Het |
| Usp1 |
A |
G |
4: 98,814,756 (GRCm39) |
I5M |
possibly damaging |
Het |
| Zcchc14 |
T |
C |
8: 122,331,378 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or4a67 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01375:Or4a67
|
APN |
2 |
88,597,810 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4520001:Or4a67
|
UTSW |
2 |
88,597,921 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0375:Or4a67
|
UTSW |
2 |
88,597,985 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0525:Or4a67
|
UTSW |
2 |
88,597,658 (GRCm39) |
nonsense |
probably null |
|
|
R1467:Or4a67
|
UTSW |
2 |
88,597,832 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1467:Or4a67
|
UTSW |
2 |
88,597,832 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1613:Or4a67
|
UTSW |
2 |
88,598,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2224:Or4a67
|
UTSW |
2 |
88,597,930 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2760:Or4a67
|
UTSW |
2 |
88,597,980 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3434:Or4a67
|
UTSW |
2 |
88,598,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6156:Or4a67
|
UTSW |
2 |
88,597,934 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6251:Or4a67
|
UTSW |
2 |
88,598,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6582:Or4a67
|
UTSW |
2 |
88,598,587 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6600:Or4a67
|
UTSW |
2 |
88,598,101 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6774:Or4a67
|
UTSW |
2 |
88,598,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7140:Or4a67
|
UTSW |
2 |
88,598,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8335:Or4a67
|
UTSW |
2 |
88,598,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8972:Or4a67
|
UTSW |
2 |
88,598,630 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9047:Or4a67
|
UTSW |
2 |
88,598,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9380:Or4a67
|
UTSW |
2 |
88,598,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9506:Or4a67
|
UTSW |
2 |
88,597,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Or4a67
|
UTSW |
2 |
88,597,777 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGGCTTGACAATGGCAAC -3'
(R):5'- GGCTGTGCATGTGGATTCAAC -3'
Sequencing Primer
(F):5'- ACATAGCGGTCCAAGGCCATG -3'
(R):5'- GTGCATGTGGATTCAACTAGAATTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation