Incidental Mutation 'R2183:Or1j14'
| ID |
237272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1j14
|
| Ensembl Gene |
ENSMUSG00000111869 |
| Gene Name |
olfactory receptor family 1 subfamily J member 14 |
| Synonyms |
GA_x6K02T2NLDC-33222024-33222962, MOR136-4, Olfr342 |
| MMRRC Submission |
040185-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.355)
|
| Stock # |
R2183 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
36415010-36420802 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 36417723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 100
(Q100*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074192]
[ENSMUST00000216275]
|
| AlphaFold |
Q8VGK7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000074192
AA Change: Q100*
|
| SMART Domains |
Protein: ENSMUSP00000073818
Gene: ENSMUSG00000111869
AA Change: Q100*
| 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 null
Transcript: ENSMUST00000216275
AA Change: Q100*
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| 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 |
|---|
| Atf7 |
T |
C |
15: 102,454,908 (GRCm39) |
T287A |
possibly damaging |
Het |
| Atg9b |
C |
T |
5: 24,595,491 (GRCm39) |
A263T |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,867,028 (GRCm39) |
H371Q |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,875,581 (GRCm39) |
N537S |
possibly damaging |
Het |
| Cdc6 |
A |
T |
11: 98,799,524 (GRCm39) |
K17* |
probably null |
Het |
| Cemip2 |
G |
A |
19: 21,801,157 (GRCm39) |
R758Q |
possibly damaging |
Het |
| Cenpk |
T |
C |
13: 104,370,671 (GRCm39) |
M64T |
probably damaging |
Het |
| Dhx57 |
T |
A |
17: 80,582,760 (GRCm39) |
T282S |
probably benign |
Het |
| Frem1 |
G |
A |
4: 82,909,732 (GRCm39) |
T757I |
probably benign |
Het |
| Gcsh |
A |
T |
8: 117,715,885 (GRCm39) |
V66E |
probably damaging |
Het |
| Gdpd1 |
T |
C |
11: 86,926,102 (GRCm39) |
N281S |
probably damaging |
Het |
| Hs1bp3 |
T |
C |
12: 8,371,610 (GRCm39) |
V97A |
possibly damaging |
Het |
| Ipo11 |
T |
C |
13: 107,061,595 (GRCm39) |
T22A |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,498,189 (GRCm39) |
L402Q |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,098,004 (GRCm39) |
N1795D |
probably damaging |
Het |
| Larp4 |
T |
C |
15: 99,909,778 (GRCm39) |
V627A |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,660,462 (GRCm39) |
C41R |
probably damaging |
Het |
| Mroh2b |
T |
A |
15: 4,947,707 (GRCm39) |
|
probably null |
Het |
| Nebl |
T |
C |
2: 17,409,027 (GRCm39) |
D357G |
probably damaging |
Het |
| Nrg2 |
T |
C |
18: 36,329,804 (GRCm39) |
K137R |
probably benign |
Het |
| Or14c43 |
T |
A |
7: 86,115,594 (GRCm39) |
V325E |
probably benign |
Het |
| Or5t7 |
A |
T |
2: 86,507,380 (GRCm39) |
M99K |
probably benign |
Het |
| Phc1 |
C |
A |
6: 122,300,284 (GRCm39) |
V487L |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,239,345 (GRCm39) |
V745A |
probably damaging |
Het |
| Proca1 |
A |
T |
11: 78,094,975 (GRCm39) |
H83L |
possibly damaging |
Het |
| Prpf4 |
G |
A |
4: 62,330,046 (GRCm39) |
V107I |
probably damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,002,284 (GRCm39) |
R1458Q |
probably benign |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rbsn |
C |
A |
6: 92,166,618 (GRCm39) |
L675F |
probably benign |
Het |
| Recql5 |
T |
C |
11: 115,787,613 (GRCm39) |
S514G |
probably benign |
Het |
| Scai |
G |
A |
2: 38,970,138 (GRCm39) |
T542I |
probably benign |
Het |
| Sftpa1 |
G |
T |
14: 40,854,823 (GRCm39) |
D73Y |
probably damaging |
Het |
| Sgms2 |
A |
C |
3: 131,129,934 (GRCm39) |
|
probably null |
Het |
| Spart |
A |
G |
3: 55,024,554 (GRCm39) |
I50V |
probably benign |
Het |
| Spata7 |
A |
T |
12: 98,603,871 (GRCm39) |
K47N |
probably damaging |
Het |
| Tbx18 |
T |
A |
9: 87,587,789 (GRCm39) |
T443S |
probably damaging |
Het |
| Tmem130 |
T |
C |
5: 144,692,242 (GRCm39) |
D54G |
possibly damaging |
Het |
| Tnip2 |
TCTCCT |
TCT |
5: 34,656,957 (GRCm39) |
|
probably benign |
Het |
| Trp53rkb |
G |
T |
2: 166,635,877 (GRCm39) |
V73L |
possibly damaging |
Het |
| Wwc2 |
A |
T |
8: 48,295,961 (GRCm39) |
L1103H |
unknown |
Het |
| Yes1 |
T |
A |
5: 32,802,370 (GRCm39) |
V95E |
probably damaging |
Het |
| Zfp971 |
T |
A |
2: 177,675,533 (GRCm39) |
H377Q |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,777,544 (GRCm39) |
R1792* |
probably null |
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 |
|
IGL02578:Or1j14
|
APN |
2 |
36,418,156 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGACAACTATGCTGGGG -3'
(R):5'- TTTCAGCATGGCAGAGAGGTC -3'
Sequencing Primer
(F):5'- GGAACCTGCTCATCATCCTAC -3'
(R):5'- GTGTGCACAAGGGCATTGC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation