Incidental Mutation 'IGL03214:Or5l13'
| ID |
413410 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5l13
|
| Ensembl Gene |
ENSMUSG00000075144 |
| Gene Name |
olfactory receptor family 5 subfamily L member 13 |
| Synonyms |
Olfr1156, GA_x6K02T2Q125-49433499-49432537, MOR174-3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
IGL03214
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
87779534-87780609 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87780415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 54
(Q54L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099842]
[ENSMUST00000215903]
[ENSMUST00000216191]
[ENSMUST00000216726]
|
| AlphaFold |
A2AVC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099842
AA Change: Q54L
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000097430
Gene: ENSMUSG00000075144
AA Change: Q54L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
2.2e-47 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.4e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215903
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216191
AA Change: Q54L
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216726
AA Change: Q54L
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
T |
C |
11: 7,117,054 (GRCm39) |
|
probably benign |
Het |
| Asb5 |
T |
C |
8: 55,038,098 (GRCm39) |
V207A |
probably benign |
Het |
| Atxn3 |
G |
T |
12: 101,912,181 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
T |
C |
16: 95,839,100 (GRCm39) |
D857G |
probably benign |
Het |
| Cacna1i |
A |
G |
15: 80,239,917 (GRCm39) |
N322S |
probably benign |
Het |
| Ccn6 |
T |
C |
10: 39,029,163 (GRCm39) |
N255S |
probably benign |
Het |
| Dcun1d1 |
A |
T |
3: 35,973,220 (GRCm39) |
W92R |
probably damaging |
Het |
| Dnah7a |
A |
C |
1: 53,561,368 (GRCm39) |
|
probably null |
Het |
| Enpep |
T |
C |
3: 129,086,896 (GRCm39) |
D581G |
probably benign |
Het |
| Fam135a |
G |
A |
1: 24,092,357 (GRCm39) |
L201F |
probably damaging |
Het |
| Gm14496 |
T |
G |
2: 181,642,329 (GRCm39) |
L667V |
probably damaging |
Het |
| Grk4 |
T |
A |
5: 34,909,553 (GRCm39) |
M539K |
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,081,742 (GRCm39) |
V2261A |
probably benign |
Het |
| Krtap5-2 |
A |
G |
7: 141,728,751 (GRCm39) |
S310P |
unknown |
Het |
| Mme |
A |
T |
3: 63,237,111 (GRCm39) |
Y232F |
possibly damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,488,519 (GRCm39) |
Y58H |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,244,411 (GRCm39) |
S983P |
possibly damaging |
Het |
| Nbas |
A |
G |
12: 13,381,111 (GRCm39) |
|
probably benign |
Het |
| Neb |
C |
T |
2: 52,049,560 (GRCm39) |
G6428R |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,087,856 (GRCm39) |
T5448S |
possibly damaging |
Het |
| Or2ag17 |
T |
A |
7: 106,389,552 (GRCm39) |
I219L |
probably benign |
Het |
| Or2t1 |
A |
T |
14: 14,328,284 (GRCm38) |
M58L |
probably damaging |
Het |
| Or52ab7 |
G |
T |
7: 102,977,873 (GRCm39) |
S60I |
possibly damaging |
Het |
| Or5p52 |
T |
C |
7: 107,502,173 (GRCm39) |
M83T |
probably benign |
Het |
| Otx2 |
A |
G |
14: 48,898,781 (GRCm39) |
I75T |
probably damaging |
Het |
| Phex |
A |
T |
X: 155,960,500 (GRCm39) |
N681K |
probably damaging |
Het |
| Plekha8 |
C |
A |
6: 54,612,755 (GRCm39) |
A454E |
probably damaging |
Het |
| Rbfa |
C |
A |
18: 80,240,506 (GRCm39) |
K152N |
probably benign |
Het |
| Satb2 |
C |
A |
1: 56,884,739 (GRCm39) |
S513I |
probably damaging |
Het |
| Slc4a2 |
G |
T |
5: 24,639,879 (GRCm39) |
R520L |
probably benign |
Het |
| Slfn14 |
T |
C |
11: 83,169,826 (GRCm39) |
H606R |
probably benign |
Het |
| Smc1b |
G |
A |
15: 84,982,147 (GRCm39) |
Q716* |
probably null |
Het |
| Syncrip |
C |
T |
9: 88,346,696 (GRCm39) |
|
probably benign |
Het |
| Vmn2r30 |
T |
A |
7: 7,337,259 (GRCm39) |
I126F |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,804,477 (GRCm39) |
A762V |
probably null |
Het |
| Wdr64 |
C |
A |
1: 175,571,201 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or5l13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01396:Or5l13
|
APN |
2 |
87,780,207 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02831:Or5l13
|
APN |
2 |
87,780,020 (GRCm39) |
splice site |
probably null |
|
|
R0285:Or5l13
|
UTSW |
2 |
87,780,475 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0926:Or5l13
|
UTSW |
2 |
87,780,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0987:Or5l13
|
UTSW |
2 |
87,779,891 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1422:Or5l13
|
UTSW |
2 |
87,780,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1958:Or5l13
|
UTSW |
2 |
87,779,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2239:Or5l13
|
UTSW |
2 |
87,779,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2380:Or5l13
|
UTSW |
2 |
87,779,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3872:Or5l13
|
UTSW |
2 |
87,779,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3873:Or5l13
|
UTSW |
2 |
87,779,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3874:Or5l13
|
UTSW |
2 |
87,779,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4526:Or5l13
|
UTSW |
2 |
87,779,753 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5116:Or5l13
|
UTSW |
2 |
87,779,873 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5985:Or5l13
|
UTSW |
2 |
87,779,665 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5999:Or5l13
|
UTSW |
2 |
87,780,145 (GRCm39) |
splice site |
probably null |
|
|
R6127:Or5l13
|
UTSW |
2 |
87,779,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6259:Or5l13
|
UTSW |
2 |
87,779,779 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6544:Or5l13
|
UTSW |
2 |
87,780,335 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6556:Or5l13
|
UTSW |
2 |
87,780,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6715:Or5l13
|
UTSW |
2 |
87,780,335 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6951:Or5l13
|
UTSW |
2 |
87,780,323 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7062:Or5l13
|
UTSW |
2 |
87,780,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7142:Or5l13
|
UTSW |
2 |
87,780,056 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7749:Or5l13
|
UTSW |
2 |
87,779,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7887:Or5l13
|
UTSW |
2 |
87,780,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8222:Or5l13
|
UTSW |
2 |
87,779,788 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9594:Or5l13
|
UTSW |
2 |
87,780,544 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2016-08-02 |
Incidental Mutation