Incidental Mutation 'F6893:Or1j4'
| ID |
228 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1j4
|
| Ensembl Gene |
ENSMUSG00000050015 |
| Gene Name |
olfactory receptor family 1 subfamily J member 4 |
| Synonyms |
MOR136-13, Olfr350, GA_x6K02T2NLDC-33544602-33545540 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.275)
|
| Stock # |
F6893 (G3)
of strain
busy
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
36740060-36740998 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36740819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 254
(T254A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055130]
[ENSMUST00000214457]
[ENSMUST00000215100]
|
| AlphaFold |
Q8VFP8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055130
AA Change: T254A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000053105
Gene: ENSMUSG00000050015
AA Change: T254A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
6.3e-61 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
1.3e-7 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
3e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214457
AA Change: T254A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215100
AA Change: T254A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Meta Mutation Damage Score |
0.1719 |
| Coding Region Coverage |
|
| Validation Efficiency |
88% (165/188) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
G |
A |
7: 119,924,261 (GRCm39) |
V1638M |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,258,636 (GRCm39) |
R972Q |
probably benign |
Het |
| Anxa3 |
T |
C |
5: 96,972,853 (GRCm39) |
|
probably benign |
Het |
| Bpifa6 |
G |
T |
2: 153,829,078 (GRCm39) |
D202Y |
probably damaging |
Het |
| Ccdc15 |
G |
A |
9: 37,226,936 (GRCm39) |
T346I |
probably damaging |
Homo |
| Celsr3 |
G |
A |
9: 108,712,266 (GRCm39) |
R1731H |
probably benign |
Het |
| Ces4a |
A |
G |
8: 105,873,859 (GRCm39) |
R443G |
possibly damaging |
Het |
| Chd2 |
T |
C |
7: 73,157,620 (GRCm39) |
Q175R |
possibly damaging |
Het |
| Dpyd |
T |
A |
3: 118,597,783 (GRCm39) |
|
probably null |
Het |
| Dscam |
G |
T |
16: 96,857,660 (GRCm39) |
H117N |
possibly damaging |
Het |
| F13a1 |
A |
G |
13: 37,155,999 (GRCm39) |
Y205H |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 15,918,085 (GRCm39) |
L1446R |
probably damaging |
Homo |
| Golga4 |
T |
C |
9: 118,382,525 (GRCm39) |
L515S |
probably damaging |
Het |
| Hoxb1 |
A |
T |
11: 96,256,728 (GRCm39) |
T26S |
probably benign |
Het |
| Igsf10 |
T |
G |
3: 59,238,481 (GRCm39) |
T567P |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,359,755 (GRCm39) |
V365A |
probably benign |
Het |
| Mepe |
A |
G |
5: 104,485,242 (GRCm39) |
I127M |
possibly damaging |
Het |
| Mpi |
A |
T |
9: 57,453,832 (GRCm39) |
M230K |
probably benign |
Homo |
| Myh4 |
A |
G |
11: 67,146,283 (GRCm39) |
D1447G |
probably null |
Homo |
| Or1f19 |
A |
G |
16: 3,411,027 (GRCm39) |
I256V |
possibly damaging |
Het |
| Panx2 |
T |
C |
15: 88,952,213 (GRCm39) |
Y227H |
probably damaging |
Homo |
| Pdzd7 |
A |
G |
19: 45,025,173 (GRCm39) |
W441R |
probably damaging |
Het |
| Poldip2 |
A |
G |
11: 78,410,020 (GRCm39) |
I267M |
probably damaging |
Homo |
| Pros1 |
T |
A |
16: 62,745,002 (GRCm39) |
V539E |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,450,425 (GRCm39) |
M4157T |
probably benign |
Het |
| Slc45a3 |
A |
G |
1: 131,909,075 (GRCm39) |
E424G |
probably benign |
Homo |
| Slc9a1 |
A |
G |
4: 133,149,457 (GRCm39) |
E761G |
probably benign |
Homo |
| Stab2 |
G |
A |
10: 86,691,035 (GRCm39) |
P2178L |
probably damaging |
Het |
| Syt4 |
C |
T |
18: 31,577,274 (GRCm39) |
V27I |
possibly damaging |
Homo |
| Thumpd1 |
T |
A |
7: 119,319,799 (GRCm39) |
K56* |
probably null |
Het |
| Tpr |
A |
G |
1: 150,269,313 (GRCm39) |
K19E |
possibly damaging |
Homo |
| Ttll10 |
A |
G |
4: 156,132,775 (GRCm39) |
I74T |
probably benign |
Het |
| Txnrd1 |
C |
T |
10: 82,702,823 (GRCm39) |
Q95* |
probably null |
Homo |
| Zc3h7b |
A |
G |
15: 81,662,872 (GRCm39) |
E421G |
possibly damaging |
Homo |
| Zc3hc1 |
G |
T |
6: 30,387,525 (GRCm39) |
D51E |
probably benign |
Homo |
|
| Other mutations in Or1j4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01068:Or1j4
|
APN |
2 |
36,740,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01113:Or1j4
|
APN |
2 |
36,740,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01393:Or1j4
|
APN |
2 |
36,740,553 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02302:Or1j4
|
APN |
2 |
36,740,715 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02316:Or1j4
|
APN |
2 |
36,740,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB007:Or1j4
|
UTSW |
2 |
36,740,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB017:Or1j4
|
UTSW |
2 |
36,740,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4402001:Or1j4
|
UTSW |
2 |
36,740,316 (GRCm39) |
missense |
probably benign |
|
|
R0312:Or1j4
|
UTSW |
2 |
36,740,372 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0525:Or1j4
|
UTSW |
2 |
36,740,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0557:Or1j4
|
UTSW |
2 |
36,740,760 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0665:Or1j4
|
UTSW |
2 |
36,740,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2019:Or1j4
|
UTSW |
2 |
36,740,418 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2107:Or1j4
|
UTSW |
2 |
36,740,355 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R2108:Or1j4
|
UTSW |
2 |
36,740,355 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R2848:Or1j4
|
UTSW |
2 |
36,740,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3964:Or1j4
|
UTSW |
2 |
36,740,729 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4822:Or1j4
|
UTSW |
2 |
36,740,888 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4907:Or1j4
|
UTSW |
2 |
36,740,270 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5134:Or1j4
|
UTSW |
2 |
36,740,488 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5144:Or1j4
|
UTSW |
2 |
36,740,156 (GRCm39) |
missense |
probably benign |
|
|
R5702:Or1j4
|
UTSW |
2 |
36,740,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5727:Or1j4
|
UTSW |
2 |
36,740,544 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5786:Or1j4
|
UTSW |
2 |
36,740,061 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R6179:Or1j4
|
UTSW |
2 |
36,740,846 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6862:Or1j4
|
UTSW |
2 |
36,740,234 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7258:Or1j4
|
UTSW |
2 |
36,740,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7307:Or1j4
|
UTSW |
2 |
36,740,137 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7353:Or1j4
|
UTSW |
2 |
36,740,081 (GRCm39) |
missense |
probably benign |
|
|
R7412:Or1j4
|
UTSW |
2 |
36,740,478 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7851:Or1j4
|
UTSW |
2 |
36,740,428 (GRCm39) |
nonsense |
probably null |
|
|
R7930:Or1j4
|
UTSW |
2 |
36,740,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8005:Or1j4
|
UTSW |
2 |
36,740,156 (GRCm39) |
missense |
probably benign |
|
|
R8346:Or1j4
|
UTSW |
2 |
36,740,351 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8692:Or1j4
|
UTSW |
2 |
36,740,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9120:Or1j4
|
UTSW |
2 |
36,740,143 (GRCm39) |
nonsense |
probably null |
|
|
R9318:Or1j4
|
UTSW |
2 |
36,740,565 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1177:Or1j4
|
UTSW |
2 |
36,740,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Or1j4
|
UTSW |
2 |
36,740,251 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified an A to G transition at position 760 of the Olfr350 transcript. The mutated nucleotide causes a threonine to alanine substitution at amino acid 254 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| Protein Function and Prediction |
The Olfr350 gene encodes the 312 amino acid olfactory receptor 350. Olfactory receptors are G-protein coupled receptors (GPCRs). Like other GPCRs, OLFR350 contains seven transmembrane domains, an extracellular N-terminus, and a cytoplasmic C-terminus (Uniprot Q8VFP8).
The T254A change is predicted to be benign by the PolyPhen program. |
| Posted On |
2010-05-06 |
Incidental Mutation