Incidental Mutation 'IGL03336:Or51k2'
ID |
417040 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or51k2
|
Ensembl Gene |
ENSMUSG00000073937 |
Gene Name |
olfactory receptor family 51 subfamily K member 2 |
Synonyms |
MOR12-5, GA_x6K02T2PBJ9-6681230-6682168, Olfr633 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
IGL03336
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
103595775-103596713 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103596616 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 281
(L281P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149105
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098188]
[ENSMUST00000216006]
|
AlphaFold |
Q8VF02 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098188
AA Change: L281P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095790 Gene: ENSMUSG00000073937 AA Change: L281P
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
310 |
1.3e-120 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
35 |
158 |
7e-10 |
PFAM |
Pfam:7tm_1
|
41 |
292 |
2.5e-21 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216006
AA Change: L281P
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
A |
G |
15: 59,888,251 (GRCm39) |
V63A |
probably benign |
Het |
Ankrd11 |
A |
G |
8: 123,618,582 (GRCm39) |
S1757P |
probably benign |
Het |
Atp8a1 |
G |
T |
5: 67,887,150 (GRCm39) |
Y629* |
probably null |
Het |
Cenpf |
T |
C |
1: 189,384,844 (GRCm39) |
K2479E |
probably damaging |
Het |
Clip1 |
G |
T |
5: 123,791,633 (GRCm39) |
S179* |
probably null |
Het |
Cmya5 |
A |
G |
13: 93,230,013 (GRCm39) |
S1692P |
possibly damaging |
Het |
Cyp17a1 |
T |
C |
19: 46,659,474 (GRCm39) |
S119G |
probably benign |
Het |
Fndc5 |
T |
C |
4: 129,033,711 (GRCm39) |
F160L |
probably benign |
Het |
Muc5b |
T |
C |
7: 141,418,100 (GRCm39) |
V3682A |
probably damaging |
Het |
Myh8 |
G |
T |
11: 67,175,528 (GRCm39) |
D328Y |
probably damaging |
Het |
Or10a5 |
T |
A |
7: 106,635,542 (GRCm39) |
M60K |
probably damaging |
Het |
Or4c121 |
T |
C |
2: 89,024,241 (GRCm39) |
T46A |
probably benign |
Het |
Or51f1 |
C |
T |
7: 102,505,823 (GRCm39) |
C222Y |
probably benign |
Het |
Or6c203 |
T |
C |
10: 129,010,098 (GRCm39) |
E264G |
probably benign |
Het |
Paxbp1 |
T |
C |
16: 90,831,060 (GRCm39) |
I439V |
probably benign |
Het |
Pcdhb3 |
T |
C |
18: 37,436,014 (GRCm39) |
V660A |
possibly damaging |
Het |
Pcyt2 |
T |
C |
11: 120,506,758 (GRCm39) |
D32G |
probably damaging |
Het |
Pdzph1 |
A |
T |
17: 59,281,229 (GRCm39) |
V351D |
probably benign |
Het |
Ribc2 |
C |
T |
15: 85,017,114 (GRCm39) |
Q51* |
probably null |
Het |
Scn2a |
A |
G |
2: 65,519,088 (GRCm39) |
E438G |
probably damaging |
Het |
Slc18a3 |
T |
C |
14: 32,184,785 (GRCm39) |
|
probably benign |
Het |
Slc5a1 |
G |
A |
5: 33,304,287 (GRCm39) |
V296I |
probably benign |
Het |
Slit3 |
A |
T |
11: 35,560,928 (GRCm39) |
T958S |
probably damaging |
Het |
Spag8 |
C |
T |
4: 43,652,114 (GRCm39) |
|
probably benign |
Het |
Susd3 |
A |
C |
13: 49,392,258 (GRCm39) |
S144R |
probably benign |
Het |
Synpo2 |
T |
C |
3: 122,907,828 (GRCm39) |
E496G |
possibly damaging |
Het |
Tbcel |
T |
C |
9: 42,350,427 (GRCm39) |
T269A |
probably benign |
Het |
Tmem156 |
A |
G |
5: 65,233,107 (GRCm39) |
Y152H |
probably benign |
Het |
Tmem247 |
A |
G |
17: 87,225,857 (GRCm39) |
E99G |
probably damaging |
Het |
Tuba3b |
A |
G |
6: 145,565,450 (GRCm39) |
D306G |
possibly damaging |
Het |
Vps13c |
T |
A |
9: 67,858,924 (GRCm39) |
D2791E |
possibly damaging |
Het |
Ypel4 |
A |
G |
2: 84,567,871 (GRCm39) |
Y98C |
probably damaging |
Het |
|
Other mutations in Or51k2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00926:Or51k2
|
APN |
7 |
103,596,204 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01728:Or51k2
|
APN |
7 |
103,595,959 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02125:Or51k2
|
APN |
7 |
103,596,279 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02332:Or51k2
|
APN |
7 |
103,596,127 (GRCm39) |
missense |
probably damaging |
0.98 |
R0611:Or51k2
|
UTSW |
7 |
103,596,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R1341:Or51k2
|
UTSW |
7 |
103,596,589 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1971:Or51k2
|
UTSW |
7 |
103,596,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R2171:Or51k2
|
UTSW |
7 |
103,595,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R4958:Or51k2
|
UTSW |
7 |
103,595,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R6700:Or51k2
|
UTSW |
7 |
103,596,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R7585:Or51k2
|
UTSW |
7 |
103,596,607 (GRCm39) |
missense |
probably benign |
0.01 |
R7640:Or51k2
|
UTSW |
7 |
103,596,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R8330:Or51k2
|
UTSW |
7 |
103,596,610 (GRCm39) |
missense |
possibly damaging |
0.56 |
R8463:Or51k2
|
UTSW |
7 |
103,595,834 (GRCm39) |
splice site |
probably null |
|
R8489:Or51k2
|
UTSW |
7 |
103,596,328 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2016-08-02 |