Incidental Mutation 'IGL02578:Or1j14'
| ID |
299245 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or1j14
|
| Ensembl Gene |
ENSMUSG00000111869 |
| Gene Name |
olfactory receptor family 1 subfamily J member 14 |
| Synonyms |
GA_x6K02T2NLDC-33222024-33222962, MOR136-4, Olfr342 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.290)
|
| Stock # |
IGL02578
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
36415010-36420802 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 36418156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 244
(H244P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074192]
[ENSMUST00000216275]
|
| AlphaFold |
Q8VGK7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074192
AA Change: H244P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073818
Gene: ENSMUSG00000111869
AA Change: H244P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
4.7e-56 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213794
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216275
AA Change: H244P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
G |
A |
7: 120,023,179 (GRCm39) |
|
probably null |
Het |
| Ago1 |
T |
A |
4: 126,333,324 (GRCm39) |
D545V |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,270,116 (GRCm39) |
S1410P |
probably benign |
Het |
| Cbfa2t3 |
T |
A |
8: 123,360,187 (GRCm39) |
D488V |
possibly damaging |
Het |
| Cdx2 |
T |
C |
5: 147,240,094 (GRCm39) |
D194G |
probably damaging |
Het |
| Cyp4a32 |
A |
G |
4: 115,466,939 (GRCm39) |
Q208R |
possibly damaging |
Het |
| Degs1 |
A |
C |
1: 182,106,592 (GRCm39) |
Y222* |
probably null |
Het |
| Dnah7a |
T |
A |
1: 53,472,074 (GRCm39) |
E3564D |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,604,250 (GRCm39) |
I906F |
possibly damaging |
Het |
| Elovl3 |
A |
G |
19: 46,123,132 (GRCm39) |
H236R |
possibly damaging |
Het |
| Foxp2 |
A |
G |
6: 15,376,814 (GRCm39) |
|
probably benign |
Het |
| Gm9892 |
A |
T |
8: 52,649,328 (GRCm39) |
|
noncoding transcript |
Het |
| Herc2 |
A |
G |
7: 55,756,283 (GRCm39) |
|
probably null |
Het |
| Hhat |
A |
G |
1: 192,376,221 (GRCm39) |
V304A |
probably damaging |
Het |
| Il16 |
C |
T |
7: 83,327,194 (GRCm39) |
|
probably null |
Het |
| Kansl1l |
G |
A |
1: 66,840,848 (GRCm39) |
Q151* |
probably null |
Het |
| Kmt2c |
G |
T |
5: 25,571,198 (GRCm39) |
|
probably benign |
Het |
| Krt39 |
T |
C |
11: 99,412,032 (GRCm39) |
N18S |
probably benign |
Het |
| Lcor |
G |
T |
19: 41,547,589 (GRCm39) |
G391V |
probably damaging |
Het |
| Mical2 |
A |
T |
7: 111,950,580 (GRCm39) |
T845S |
probably benign |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Mphosph8 |
C |
T |
14: 56,911,667 (GRCm39) |
A230V |
probably benign |
Het |
| Myh2 |
T |
A |
11: 67,077,517 (GRCm39) |
M884K |
probably benign |
Het |
| Nlrp3 |
T |
C |
11: 59,439,227 (GRCm39) |
L268P |
probably damaging |
Het |
| Ntng1 |
T |
A |
3: 110,042,710 (GRCm39) |
T39S |
probably benign |
Het |
| Or10ag58 |
T |
A |
2: 87,265,401 (GRCm39) |
I190K |
probably damaging |
Het |
| Or5al7 |
A |
T |
2: 85,993,073 (GRCm39) |
Y73* |
probably null |
Het |
| Pde4b |
T |
A |
4: 102,112,494 (GRCm39) |
M26K |
possibly damaging |
Het |
| Polh |
G |
A |
17: 46,505,218 (GRCm39) |
Q133* |
probably null |
Het |
| Postn |
A |
T |
3: 54,284,625 (GRCm39) |
N647I |
possibly damaging |
Het |
| Scimp |
T |
A |
11: 70,682,387 (GRCm39) |
I110F |
possibly damaging |
Het |
| Sell |
A |
G |
1: 163,893,165 (GRCm39) |
D127G |
probably damaging |
Het |
| Serpinb12 |
G |
A |
1: 106,883,220 (GRCm39) |
|
probably null |
Het |
| She |
A |
G |
3: 89,739,373 (GRCm39) |
E188G |
probably damaging |
Het |
| Shisal2a |
C |
T |
4: 108,225,225 (GRCm39) |
M112I |
probably benign |
Het |
| Slc22a1 |
T |
C |
17: 12,886,126 (GRCm39) |
Y169C |
probably damaging |
Het |
| Slco2a1 |
C |
T |
9: 102,923,957 (GRCm39) |
T57I |
probably damaging |
Het |
| Sox2 |
A |
T |
3: 34,704,745 (GRCm39) |
M61L |
probably benign |
Het |
| Sra1 |
G |
A |
18: 36,803,150 (GRCm39) |
Q32* |
probably null |
Het |
| Syne2 |
T |
A |
12: 76,069,053 (GRCm39) |
S4340T |
possibly damaging |
Het |
| Ucn |
A |
C |
5: 31,295,738 (GRCm39) |
W43G |
possibly damaging |
Het |
| Xdh |
C |
T |
17: 74,213,241 (GRCm39) |
M836I |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,341,591 (GRCm39) |
D1277E |
probably damaging |
Het |
|
| Other mutations in Or1j14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Or1j14
|
APN |
2 |
36,418,005 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01372:Or1j14
|
APN |
2 |
36,417,463 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01747:Or1j14
|
APN |
2 |
36,417,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01836:Or1j14
|
APN |
2 |
36,417,837 (GRCm39) |
nonsense |
probably null |
|
|
IGL02409:Or1j14
|
APN |
2 |
36,418,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03344:Or1j14
|
APN |
2 |
36,418,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03396:Or1j14
|
APN |
2 |
36,417,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0086:Or1j14
|
UTSW |
2 |
36,417,462 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0427:Or1j14
|
UTSW |
2 |
36,417,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Or1j14
|
UTSW |
2 |
36,418,020 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0973:Or1j14
|
UTSW |
2 |
36,418,020 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0974:Or1j14
|
UTSW |
2 |
36,418,020 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2183:Or1j14
|
UTSW |
2 |
36,417,723 (GRCm39) |
nonsense |
probably null |
|
|
R2437:Or1j14
|
UTSW |
2 |
36,418,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4060:Or1j14
|
UTSW |
2 |
36,417,426 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R4982:Or1j14
|
UTSW |
2 |
36,417,409 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5070:Or1j14
|
UTSW |
2 |
36,417,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6244:Or1j14
|
UTSW |
2 |
36,418,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8350:Or1j14
|
UTSW |
2 |
36,418,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8690:Or1j14
|
UTSW |
2 |
36,418,207 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9105:Or1j14
|
UTSW |
2 |
36,418,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9224:Or1j14
|
UTSW |
2 |
36,417,838 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9249:Or1j14
|
UTSW |
2 |
36,417,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9274:Or1j14
|
UTSW |
2 |
36,417,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9465:Or1j14
|
UTSW |
2 |
36,417,898 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9644:Or1j14
|
UTSW |
2 |
36,417,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9700:Or1j14
|
UTSW |
2 |
36,418,313 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Posted On |
2015-04-16 |
Incidental Mutation