Incidental Mutation 'IGL02036:Or2t44'
| ID |
184522 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or2t44
|
| Ensembl Gene |
ENSMUSG00000059504 |
| Gene Name |
olfactory receptor family 2 subfamily T member 44 |
| Synonyms |
MOR278-2, Olfr314, GA_x6K02T2NKPP-622179-621244 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02036
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
58676965-58678095 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58677923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 288
(Y288H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076393]
[ENSMUST00000205189]
|
| AlphaFold |
Q7TRZ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076393
AA Change: Y288H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075729
Gene: ENSMUSG00000059504
AA Change: Y288H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
26 |
306 |
2.8e-50 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
249 |
2.1e-6 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
2.3e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205189
AA Change: Y288H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145387
Gene: ENSMUSG00000059504
AA Change: Y288H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
26 |
259 |
8.9e-42 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
246 |
9.4e-6 |
PFAM |
|
Pfam:7tm_1
|
39 |
259 |
1.1e-25 |
PFAM |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cep290 |
T |
A |
10: 100,393,962 (GRCm39) |
C2056* |
probably null |
Het |
| Cyp2c38 |
T |
A |
19: 39,448,760 (GRCm39) |
D143V |
probably null |
Het |
| Ddx10 |
T |
C |
9: 53,115,483 (GRCm39) |
K617R |
probably benign |
Het |
| Dgat2l6 |
T |
A |
X: 99,589,199 (GRCm39) |
I336N |
probably damaging |
Het |
| Dop1a |
A |
G |
9: 86,413,818 (GRCm39) |
I1906M |
probably benign |
Het |
| Dpep3 |
T |
G |
8: 106,700,417 (GRCm39) |
T430P |
probably benign |
Het |
| Dph1 |
T |
C |
11: 75,074,991 (GRCm39) |
|
probably null |
Het |
| Epha7 |
T |
C |
4: 28,950,509 (GRCm39) |
S775P |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,010,571 (GRCm39) |
|
probably benign |
Het |
| Fcgbpl1 |
G |
A |
7: 27,836,950 (GRCm39) |
V290M |
possibly damaging |
Het |
| Hdx |
T |
A |
X: 110,569,564 (GRCm39) |
T342S |
probably benign |
Het |
| Inpp4a |
T |
C |
1: 37,416,650 (GRCm39) |
|
probably benign |
Het |
| Itgad |
A |
G |
7: 127,788,993 (GRCm39) |
T515A |
possibly damaging |
Het |
| Kcnc2 |
T |
A |
10: 112,291,831 (GRCm39) |
S340T |
possibly damaging |
Het |
| Krba1 |
C |
T |
6: 48,392,576 (GRCm39) |
T830I |
possibly damaging |
Het |
| Lrch1 |
G |
A |
14: 75,032,733 (GRCm39) |
|
probably benign |
Het |
| Mag |
C |
T |
7: 30,607,877 (GRCm39) |
V295M |
probably damaging |
Het |
| Mmp16 |
T |
A |
4: 18,093,371 (GRCm39) |
D375E |
probably benign |
Het |
| Or2h2 |
A |
G |
17: 37,396,559 (GRCm39) |
F166S |
probably damaging |
Het |
| Or4c111 |
A |
G |
2: 88,843,823 (GRCm39) |
V195A |
probably benign |
Het |
| Pcyox1l |
T |
C |
18: 61,840,607 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
A |
G |
2: 125,600,127 (GRCm39) |
S403P |
probably benign |
Het |
| Sh3tc2 |
T |
A |
18: 62,147,978 (GRCm39) |
H1229Q |
probably benign |
Het |
| Svep1 |
A |
C |
4: 58,088,245 (GRCm39) |
W1735G |
possibly damaging |
Het |
| Tbxas1 |
T |
A |
6: 38,998,091 (GRCm39) |
C220S |
probably benign |
Het |
| Vmn1r173 |
G |
T |
7: 23,402,321 (GRCm39) |
M185I |
probably benign |
Het |
| Ywhag |
A |
G |
5: 135,940,348 (GRCm39) |
V82A |
probably benign |
Het |
|
| Other mutations in Or2t44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02268:Or2t44
|
APN |
11 |
58,677,551 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02743:Or2t44
|
APN |
11 |
58,677,606 (GRCm39) |
nonsense |
probably null |
|
|
R0157:Or2t44
|
UTSW |
11 |
58,677,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0622:Or2t44
|
UTSW |
11 |
58,677,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0926:Or2t44
|
UTSW |
11 |
58,677,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1985:Or2t44
|
UTSW |
11 |
58,677,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2273:Or2t44
|
UTSW |
11 |
58,677,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2274:Or2t44
|
UTSW |
11 |
58,677,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5642:Or2t44
|
UTSW |
11 |
58,677,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5770:Or2t44
|
UTSW |
11 |
58,677,420 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6292:Or2t44
|
UTSW |
11 |
58,677,063 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
|
R6813:Or2t44
|
UTSW |
11 |
58,677,472 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7285:Or2t44
|
UTSW |
11 |
58,677,310 (GRCm39) |
nonsense |
probably null |
|
|
R8944:Or2t44
|
UTSW |
11 |
58,677,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9076:Or2t44
|
UTSW |
11 |
58,677,559 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9656:Or2t44
|
UTSW |
11 |
58,677,635 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Z1186:Or2t44
|
UTSW |
11 |
58,677,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1187:Or2t44
|
UTSW |
11 |
58,677,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1188:Or2t44
|
UTSW |
11 |
58,677,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1189:Or2t44
|
UTSW |
11 |
58,677,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1190:Or2t44
|
UTSW |
11 |
58,677,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1191:Or2t44
|
UTSW |
11 |
58,677,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1192:Or2t44
|
UTSW |
11 |
58,677,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation