Incidental Mutation 'IGL01559:Or2l13'
| ID |
90787 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or2l13
|
| Ensembl Gene |
ENSMUSG00000056822 |
| Gene Name |
olfactory receptor family 2 subfamily L member 13 |
| Synonyms |
MOR270-1, GA_x54KRFPKG5P-15934912-15935850, Olfr166 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL01559
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
19305590-19306528 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19306209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 207
(L207P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074739]
[ENSMUST00000213531]
[ENSMUST00000216465]
|
| AlphaFold |
Q8VGX2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074739
AA Change: L207P
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000074299
Gene: ENSMUSG00000056822
AA Change: L207P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
29 |
N/A |
INTRINSIC |
|
Pfam:7tm_4
|
30 |
306 |
4e-50 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
295 |
3.6e-7 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
2.1e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213531
AA Change: L207P
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216465
AA Change: L207P
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,259,020 (GRCm39) |
N2915K |
possibly damaging |
Het |
| Abca5 |
T |
C |
11: 110,163,352 (GRCm39) |
N1621S |
probably benign |
Het |
| Asb18 |
G |
A |
1: 89,882,172 (GRCm39) |
S122F |
probably damaging |
Het |
| Atg4c |
A |
G |
4: 99,106,440 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
T |
C |
3: 36,648,659 (GRCm39) |
Y363C |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,314,183 (GRCm39) |
T1281A |
possibly damaging |
Het |
| Cers1 |
A |
G |
8: 70,775,883 (GRCm39) |
N295S |
probably damaging |
Het |
| Csn1s2b |
A |
T |
5: 87,968,810 (GRCm39) |
K80* |
probably null |
Het |
| Dennd6a |
A |
G |
14: 26,329,720 (GRCm39) |
D97G |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,054,005 (GRCm39) |
Y2537C |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,001,235 (GRCm39) |
|
probably null |
Het |
| Exoc4 |
A |
G |
6: 33,243,011 (GRCm39) |
T75A |
probably damaging |
Het |
| Fbll1 |
T |
C |
11: 35,688,372 (GRCm39) |
E297G |
probably damaging |
Het |
| Gm10642 |
T |
A |
9: 70,563,874 (GRCm39) |
D152V |
probably damaging |
Het |
| Hdac3 |
A |
G |
18: 38,076,725 (GRCm39) |
|
probably benign |
Het |
| Kif17 |
A |
G |
4: 138,021,080 (GRCm39) |
I850V |
probably damaging |
Het |
| Pi4kb |
T |
A |
3: 94,891,440 (GRCm39) |
L52Q |
probably benign |
Het |
| Sec14l1 |
C |
A |
11: 117,034,110 (GRCm39) |
|
probably null |
Het |
| Slc28a2 |
T |
A |
2: 122,285,021 (GRCm39) |
H336Q |
probably damaging |
Het |
| Usp17lb |
A |
G |
7: 104,490,436 (GRCm39) |
S164P |
probably damaging |
Het |
|
| Other mutations in Or2l13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01639:Or2l13
|
APN |
16 |
19,305,914 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02105:Or2l13
|
APN |
16 |
19,306,011 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02352:Or2l13
|
APN |
16 |
19,305,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02359:Or2l13
|
APN |
16 |
19,305,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03053:Or2l13
|
APN |
16 |
19,305,969 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL03168:Or2l13
|
APN |
16 |
19,305,969 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0576:Or2l13
|
UTSW |
16 |
19,305,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0920:Or2l13
|
UTSW |
16 |
19,305,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1335:Or2l13
|
UTSW |
16 |
19,305,803 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1468:Or2l13
|
UTSW |
16 |
19,306,378 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1468:Or2l13
|
UTSW |
16 |
19,306,378 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1490:Or2l13
|
UTSW |
16 |
19,305,672 (GRCm39) |
missense |
probably benign |
|
|
R2095:Or2l13
|
UTSW |
16 |
19,305,681 (GRCm39) |
missense |
probably benign |
|
|
R3123:Or2l13
|
UTSW |
16 |
19,305,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4893:Or2l13
|
UTSW |
16 |
19,305,653 (GRCm39) |
missense |
probably benign |
|
|
R5093:Or2l13
|
UTSW |
16 |
19,306,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5222:Or2l13
|
UTSW |
16 |
19,305,680 (GRCm39) |
missense |
probably benign |
|
|
R7149:Or2l13
|
UTSW |
16 |
19,306,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7305:Or2l13
|
UTSW |
16 |
19,306,449 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7484:Or2l13
|
UTSW |
16 |
19,305,753 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9394:Or2l13
|
UTSW |
16 |
19,306,421 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9640:Or2l13
|
UTSW |
16 |
19,305,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9749:Or2l13
|
UTSW |
16 |
19,306,113 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0020:Or2l13
|
UTSW |
16 |
19,305,840 (GRCm39) |
missense |
probably benign |
0.22 |
|
Z1088:Or2l13
|
UTSW |
16 |
19,305,798 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Posted On |
2013-12-09 |
Incidental Mutation