Incidental Mutation 'R6727:Or1l4'
| ID |
529892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1l4
|
| Ensembl Gene |
ENSMUSG00000059429 |
| Gene Name |
olfactory receptor family 1 subfamily L member 4 |
| Synonyms |
GA_x6K02T2NLDC-33885305-33886243, MOR138-1, Olfr365 |
| MMRRC Submission |
044845-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R6727 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
37082917-37092193 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37092118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 288
(N288K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074168]
[ENSMUST00000213969]
[ENSMUST00000218602]
|
| AlphaFold |
Q8VFT2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074168
AA Change: N288K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000073801
Gene: ENSMUSG00000059429
AA Change: N288K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
12 |
N/A |
INTRINSIC |
|
Pfam:7tm_4
|
33 |
309 |
4.7e-58 |
PFAM |
|
Pfam:7tm_1
|
43 |
292 |
2.2e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120111
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213969
AA Change: N288K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218602
AA Change: N288K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| Validation Efficiency |
98% (44/45) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010109A12Rik |
A |
G |
5: 93,354,434 (GRCm39) |
|
probably benign |
Het |
| 4930563M21Rik |
C |
T |
9: 55,896,760 (GRCm39) |
V283I |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Allc |
T |
A |
12: 28,607,388 (GRCm39) |
H288L |
probably damaging |
Het |
| Atg16l1 |
T |
C |
1: 87,702,576 (GRCm39) |
I279T |
possibly damaging |
Het |
| Atp6v1b1 |
A |
G |
6: 83,728,857 (GRCm39) |
|
probably benign |
Het |
| Barhl1 |
G |
A |
2: 28,805,495 (GRCm39) |
P66L |
probably benign |
Het |
| Brd8dc |
T |
A |
18: 34,713,894 (GRCm39) |
M244L |
probably benign |
Het |
| Cfap58 |
A |
T |
19: 47,943,856 (GRCm39) |
D352V |
probably benign |
Het |
| Cyp3a44 |
T |
A |
5: 145,731,781 (GRCm39) |
K122* |
probably null |
Het |
| Dnai1 |
G |
T |
4: 41,625,308 (GRCm39) |
R424L |
probably benign |
Het |
| Dync1li2 |
G |
T |
8: 105,167,167 (GRCm39) |
H79Q |
probably damaging |
Het |
| Fem1b |
A |
G |
9: 62,704,015 (GRCm39) |
V415A |
possibly damaging |
Het |
| Fgb |
C |
T |
3: 82,954,094 (GRCm39) |
S48N |
possibly damaging |
Het |
| Gm5624 |
T |
C |
14: 44,799,332 (GRCm39) |
D31G |
possibly damaging |
Het |
| Gzmn |
T |
A |
14: 56,403,432 (GRCm39) |
I226F |
probably damaging |
Het |
| H2-T5 |
A |
T |
17: 36,476,622 (GRCm39) |
V284E |
probably damaging |
Het |
| Il31ra |
T |
C |
13: 112,683,902 (GRCm39) |
S184G |
probably damaging |
Het |
| Insrr |
C |
T |
3: 87,720,873 (GRCm39) |
R1044C |
probably damaging |
Het |
| Kcnj15 |
A |
G |
16: 95,097,193 (GRCm39) |
S272G |
probably damaging |
Het |
| Kcnk16 |
C |
T |
14: 20,312,997 (GRCm39) |
A106T |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,283,984 (GRCm39) |
V876A |
probably damaging |
Het |
| Large2 |
G |
T |
2: 92,201,215 (GRCm39) |
|
probably benign |
Het |
| Maml2 |
A |
T |
9: 13,532,847 (GRCm39) |
|
probably benign |
Het |
| Me1 |
A |
G |
9: 86,464,851 (GRCm39) |
L533P |
possibly damaging |
Het |
| Muc16 |
A |
G |
9: 18,477,986 (GRCm39) |
|
probably null |
Het |
| Nova2 |
C |
A |
7: 18,692,419 (GRCm39) |
T516K |
probably damaging |
Het |
| Or56b1 |
T |
C |
7: 104,285,094 (GRCm39) |
I71T |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Ppp2r1a |
T |
A |
17: 21,176,087 (GRCm39) |
V103E |
probably benign |
Het |
| Prl3d3 |
G |
A |
13: 27,341,147 (GRCm39) |
|
probably null |
Het |
| Rhbdf1 |
G |
T |
11: 32,164,042 (GRCm39) |
A288E |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,321,147 (GRCm39) |
S1202P |
possibly damaging |
Het |
| Slc25a17 |
A |
G |
15: 81,222,154 (GRCm39) |
V106A |
probably benign |
Het |
| Slc4a4 |
T |
G |
5: 89,318,624 (GRCm39) |
S640A |
probably benign |
Het |
| Smc4 |
T |
A |
3: 68,924,105 (GRCm39) |
Y298N |
probably damaging |
Het |
| Tek |
G |
T |
4: 94,741,732 (GRCm39) |
G830* |
probably null |
Het |
| Tgfb1 |
A |
T |
7: 25,388,587 (GRCm39) |
|
probably benign |
Het |
| Themis |
T |
C |
10: 28,657,903 (GRCm39) |
I157T |
probably damaging |
Het |
| Trmt12 |
A |
G |
15: 58,744,514 (GRCm39) |
|
probably benign |
Het |
| Trrap |
T |
C |
5: 144,793,760 (GRCm39) |
W3654R |
probably damaging |
Het |
| Tspan3 |
C |
T |
9: 56,054,724 (GRCm39) |
G108S |
probably damaging |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,979 (GRCm39) |
|
probably null |
Het |
| Vps13b |
A |
G |
15: 35,770,829 (GRCm39) |
K2091E |
probably benign |
Het |
| Wdr62 |
A |
T |
7: 29,971,045 (GRCm39) |
V184D |
probably damaging |
Het |
| Zfp958 |
C |
A |
8: 4,678,247 (GRCm39) |
Q90K |
probably benign |
Het |
|
| Other mutations in Or1l4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Or1l4
|
APN |
2 |
37,091,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00943:Or1l4
|
APN |
2 |
37,092,183 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01100:Or1l4
|
APN |
2 |
37,091,652 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL01696:Or1l4
|
APN |
2 |
37,091,523 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02119:Or1l4
|
APN |
2 |
37,091,281 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02807:Or1l4
|
APN |
2 |
37,091,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03030:Or1l4
|
APN |
2 |
37,091,883 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0388:Or1l4
|
UTSW |
2 |
37,092,196 (GRCm39) |
splice site |
probably null |
|
|
R0788:Or1l4
|
UTSW |
2 |
37,092,035 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1126:Or1l4
|
UTSW |
2 |
37,092,113 (GRCm39) |
missense |
probably benign |
|
|
R1753:Or1l4
|
UTSW |
2 |
37,091,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1822:Or1l4
|
UTSW |
2 |
37,091,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1837:Or1l4
|
UTSW |
2 |
37,092,114 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3711:Or1l4
|
UTSW |
2 |
37,091,285 (GRCm39) |
missense |
probably benign |
|
|
R4077:Or1l4
|
UTSW |
2 |
37,092,024 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4078:Or1l4
|
UTSW |
2 |
37,092,024 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4375:Or1l4
|
UTSW |
2 |
37,091,574 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4607:Or1l4
|
UTSW |
2 |
37,092,094 (GRCm39) |
nonsense |
probably null |
|
|
R4608:Or1l4
|
UTSW |
2 |
37,092,094 (GRCm39) |
nonsense |
probably null |
|
|
R4889:Or1l4
|
UTSW |
2 |
37,092,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5398:Or1l4
|
UTSW |
2 |
37,091,330 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5560:Or1l4
|
UTSW |
2 |
37,091,942 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5670:Or1l4
|
UTSW |
2 |
37,092,006 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6108:Or1l4
|
UTSW |
2 |
37,091,778 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6860:Or1l4
|
UTSW |
2 |
37,092,189 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7079:Or1l4
|
UTSW |
2 |
37,092,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7113:Or1l4
|
UTSW |
2 |
37,091,568 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7278:Or1l4
|
UTSW |
2 |
37,092,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7731:Or1l4
|
UTSW |
2 |
37,091,561 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8096:Or1l4
|
UTSW |
2 |
37,092,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9180:Or1l4
|
UTSW |
2 |
37,091,292 (GRCm39) |
missense |
probably benign |
|
|
R9301:Or1l4
|
UTSW |
2 |
37,091,255 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
|
R9448:Or1l4
|
UTSW |
2 |
37,091,221 (GRCm39) |
start gained |
probably benign |
|
|
R9562:Or1l4
|
UTSW |
2 |
37,091,575 (GRCm39) |
missense |
probably benign |
|
|
R9565:Or1l4
|
UTSW |
2 |
37,091,575 (GRCm39) |
missense |
probably benign |
|
|
R9659:Or1l4
|
UTSW |
2 |
37,091,897 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCCCTCTGCAGCTGGAAAATG -3'
(R):5'- ATGTGTGATGGTACCTGCAGAG -3'
Sequencing Primer
(F):5'- GCTGGAAAATGGAAAGCCTTCTCTAC -3'
(R):5'- AGGAGGACATTGTTACATGTCCC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation