Incidental Mutation 'IGL03493:Or13a27'
ID |
490707 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or13a27
|
Ensembl Gene |
ENSMUSG00000060112 |
Gene Name |
olfactory receptor family 13 subfamily A member 27 |
Synonyms |
MOR253-6, Olfr60, GA_x6K02T2PBJ9-42496183-42495251, IH6 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
IGL03493
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
139924965-139925900 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 139925066 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 279
(Y279N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150685
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075470]
[ENSMUST00000210932]
[ENSMUST00000211031]
[ENSMUST00000215023]
[ENSMUST00000216027]
|
AlphaFold |
Q8VGL4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075470
AA Change: Y279N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000074916 Gene: ENSMUSG00000060112 AA Change: Y279N
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
32 |
308 |
1.2e-50 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
36 |
161 |
1.8e-8 |
PFAM |
Pfam:7tm_1
|
42 |
291 |
2e-21 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210932
AA Change: Y279N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211031
AA Change: Y279N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211655
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215023
AA Change: Y279N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216027
AA Change: Y279N
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldoart1 |
G |
A |
4: 72,769,884 (GRCm39) |
T253I |
probably damaging |
Het |
Ampd2 |
T |
C |
3: 107,982,674 (GRCm39) |
E694G |
probably damaging |
Het |
Atcay |
C |
A |
10: 81,046,407 (GRCm39) |
E306* |
probably null |
Het |
Atp13a5 |
G |
T |
16: 29,116,342 (GRCm39) |
D546E |
probably benign |
Het |
C2cd2 |
T |
C |
16: 97,682,861 (GRCm39) |
D125G |
probably damaging |
Het |
Col23a1 |
T |
C |
11: 51,455,632 (GRCm39) |
|
probably null |
Het |
Col9a1 |
T |
A |
1: 24,260,651 (GRCm39) |
|
probably benign |
Het |
Cyp4a31 |
T |
A |
4: 115,427,952 (GRCm39) |
|
probably null |
Het |
Dnah11 |
G |
A |
12: 117,976,533 (GRCm39) |
R2708C |
probably benign |
Het |
Dzip3 |
T |
C |
16: 48,772,059 (GRCm39) |
I537V |
probably benign |
Het |
Ezh1 |
T |
C |
11: 101,094,617 (GRCm39) |
T392A |
probably benign |
Het |
Hsd17b14 |
A |
T |
7: 45,205,515 (GRCm39) |
D42V |
probably damaging |
Het |
Hsf2 |
A |
T |
10: 57,381,462 (GRCm39) |
I294F |
probably damaging |
Het |
Ibtk |
G |
T |
9: 85,600,972 (GRCm39) |
S797R |
probably benign |
Het |
Kif20b |
T |
A |
19: 34,936,950 (GRCm39) |
C183* |
probably null |
Het |
Lnpep |
G |
T |
17: 17,799,433 (GRCm39) |
A74E |
probably damaging |
Het |
Map4k1 |
A |
T |
7: 28,683,576 (GRCm39) |
|
probably benign |
Het |
Matn1 |
A |
G |
4: 130,677,309 (GRCm39) |
R173G |
probably benign |
Het |
Nyap1 |
A |
G |
5: 137,733,278 (GRCm39) |
I585T |
probably damaging |
Het |
Or52e7 |
A |
G |
7: 104,685,151 (GRCm39) |
T249A |
probably damaging |
Het |
Or5d39 |
G |
A |
2: 87,980,280 (GRCm39) |
P28S |
probably benign |
Het |
Phactr2 |
A |
G |
10: 13,133,413 (GRCm39) |
V190A |
probably benign |
Het |
Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
Rad51c |
A |
T |
11: 87,288,579 (GRCm39) |
H201Q |
probably benign |
Het |
Sec63 |
C |
A |
10: 42,704,937 (GRCm39) |
D730E |
probably benign |
Het |
Smarcc2 |
A |
G |
10: 128,297,226 (GRCm39) |
I39M |
probably damaging |
Het |
Trav2 |
A |
G |
14: 52,804,745 (GRCm39) |
|
probably benign |
Het |
Ugt3a1 |
A |
G |
15: 9,361,569 (GRCm39) |
Y115C |
probably damaging |
Het |
Zfp955b |
T |
G |
17: 33,521,519 (GRCm39) |
H329Q |
probably benign |
Het |
|
Other mutations in Or13a27 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00225:Or13a27
|
APN |
7 |
139,925,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R0413:Or13a27
|
UTSW |
7 |
139,925,108 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0652:Or13a27
|
UTSW |
7 |
139,925,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R1848:Or13a27
|
UTSW |
7 |
139,925,900 (GRCm39) |
start codon destroyed |
probably benign |
|
R1908:Or13a27
|
UTSW |
7 |
139,925,378 (GRCm39) |
missense |
probably benign |
0.05 |
R1909:Or13a27
|
UTSW |
7 |
139,925,378 (GRCm39) |
missense |
probably benign |
0.05 |
R5133:Or13a27
|
UTSW |
7 |
139,925,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R5320:Or13a27
|
UTSW |
7 |
139,925,548 (GRCm39) |
missense |
probably benign |
0.00 |
R5429:Or13a27
|
UTSW |
7 |
139,925,186 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6595:Or13a27
|
UTSW |
7 |
139,925,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R6621:Or13a27
|
UTSW |
7 |
139,925,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R7300:Or13a27
|
UTSW |
7 |
139,925,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R7409:Or13a27
|
UTSW |
7 |
139,925,318 (GRCm39) |
missense |
probably benign |
0.00 |
R7562:Or13a27
|
UTSW |
7 |
139,925,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R7646:Or13a27
|
UTSW |
7 |
139,925,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R8158:Or13a27
|
UTSW |
7 |
139,925,162 (GRCm39) |
missense |
probably benign |
0.03 |
R8233:Or13a27
|
UTSW |
7 |
139,925,411 (GRCm39) |
missense |
probably benign |
0.01 |
R8238:Or13a27
|
UTSW |
7 |
139,925,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R8338:Or13a27
|
UTSW |
7 |
139,925,306 (GRCm39) |
missense |
probably benign |
0.00 |
R9794:Or13a27
|
UTSW |
7 |
139,925,483 (GRCm39) |
nonsense |
probably null |
|
Z1088:Or13a27
|
UTSW |
7 |
139,925,717 (GRCm39) |
missense |
probably benign |
0.42 |
|
Posted On |
2017-10-20 |