Incidental Mutation 'IGL01124:Or2t49'
| ID |
52344 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or2t49
|
| Ensembl Gene |
ENSMUSG00000058807 |
| Gene Name |
olfactory receptor family 2 subfamily T member 49 |
| Synonyms |
GA_x6K02T2NKPP-912840-913784, Olfr331, MOR275-4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL01124
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
58392424-58393398 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58393020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 121
(S121T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132693
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081743]
[ENSMUST00000170501]
|
| AlphaFold |
Q5NC44 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081743
AA Change: S127T
PolyPhen 2
Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000080440
Gene: ENSMUSG00000058807
AA Change: S127T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
315 |
1e-42 |
PFAM |
|
Pfam:7tm_1
|
45 |
299 |
1.8e-21 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170501
AA Change: S121T
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132693
Gene: ENSMUSG00000058807
AA Change: S121T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
37 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
39 |
292 |
4.9e-28 |
PFAM |
|
Pfam:7tm_4
|
141 |
285 |
3.6e-42 |
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, Feb 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
T |
C |
10: 50,608,569 (GRCm39) |
I1477T |
probably damaging |
Het |
| Baat |
A |
G |
4: 49,490,391 (GRCm39) |
I231T |
possibly damaging |
Het |
| Cactin |
T |
C |
10: 81,160,184 (GRCm39) |
S426P |
possibly damaging |
Het |
| Cfh |
A |
T |
1: 140,110,999 (GRCm39) |
F6I |
probably benign |
Het |
| Clec4a2 |
C |
T |
6: 123,116,037 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,611,129 (GRCm39) |
S148P |
probably damaging |
Het |
| Cubn |
G |
T |
2: 13,482,904 (GRCm39) |
Q281K |
possibly damaging |
Het |
| Cyp2c65 |
T |
A |
19: 39,081,954 (GRCm39) |
|
probably benign |
Het |
| Dennd4b |
A |
T |
3: 90,176,381 (GRCm39) |
T243S |
possibly damaging |
Het |
| Epha8 |
C |
T |
4: 136,663,394 (GRCm39) |
G518D |
probably damaging |
Het |
| Fmo3 |
G |
A |
1: 162,785,830 (GRCm39) |
R387C |
probably damaging |
Het |
| Foxo6 |
T |
C |
4: 120,126,349 (GRCm39) |
T149A |
probably benign |
Het |
| Fthl17d |
T |
C |
X: 8,852,827 (GRCm39) |
E3G |
probably benign |
Het |
| Gm10521 |
A |
G |
1: 171,724,010 (GRCm39) |
Y107C |
unknown |
Het |
| Ipo8 |
T |
A |
6: 148,678,874 (GRCm39) |
E908V |
probably benign |
Het |
| Kcnd2 |
T |
C |
6: 21,217,216 (GRCm39) |
S307P |
probably damaging |
Het |
| Klf3 |
A |
G |
5: 64,974,123 (GRCm39) |
M3V |
possibly damaging |
Het |
| Ldb3 |
T |
A |
14: 34,266,157 (GRCm39) |
E417D |
probably damaging |
Het |
| Lrch1 |
A |
T |
14: 74,994,503 (GRCm39) |
D673E |
probably benign |
Het |
| Map3k4 |
T |
C |
17: 12,474,087 (GRCm39) |
K865E |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,589,104 (GRCm39) |
V754I |
possibly damaging |
Het |
| Nek4 |
A |
G |
14: 30,692,219 (GRCm39) |
N223D |
probably benign |
Het |
| Nell2 |
G |
A |
15: 95,194,060 (GRCm39) |
T551M |
probably damaging |
Het |
| Nup155 |
T |
A |
15: 8,183,163 (GRCm39) |
M1241K |
probably damaging |
Het |
| Or5i1 |
T |
C |
2: 87,613,720 (GRCm39) |
F279L |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,445,984 (GRCm39) |
|
probably benign |
Het |
| Pclo |
T |
C |
5: 14,764,343 (GRCm39) |
I4272T |
unknown |
Het |
| Ppp1r12c |
A |
G |
7: 4,500,344 (GRCm39) |
|
probably benign |
Het |
| Prcp |
A |
G |
7: 92,559,416 (GRCm39) |
E160G |
probably benign |
Het |
| Prl3d3 |
G |
A |
13: 27,343,090 (GRCm39) |
R92Q |
possibly damaging |
Het |
| Prl6a1 |
T |
A |
13: 27,500,347 (GRCm39) |
M106K |
possibly damaging |
Het |
| Slc22a1 |
T |
A |
17: 12,869,749 (GRCm39) |
|
probably benign |
Het |
| Slco3a1 |
A |
G |
7: 73,934,295 (GRCm39) |
Y626H |
probably damaging |
Het |
| Smtn |
A |
G |
11: 3,476,326 (GRCm39) |
|
probably null |
Het |
| Snx30 |
T |
C |
4: 59,886,404 (GRCm39) |
|
probably benign |
Het |
| Spock2 |
A |
G |
10: 59,967,209 (GRCm39) |
D393G |
unknown |
Het |
| Trem3 |
T |
G |
17: 48,556,829 (GRCm39) |
L100R |
probably damaging |
Het |
| Trpm2 |
A |
T |
10: 77,781,659 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,745,386 (GRCm39) |
M901V |
probably benign |
Het |
| Usp28 |
T |
A |
9: 48,948,513 (GRCm39) |
S873T |
probably damaging |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,856 (GRCm39) |
I7V |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,338,959 (GRCm39) |
L400P |
probably damaging |
Het |
|
| Other mutations in Or2t49 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02458:Or2t49
|
APN |
11 |
58,393,073 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02971:Or2t49
|
APN |
11 |
58,393,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03346:Or2t49
|
APN |
11 |
58,392,581 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0416:Or2t49
|
UTSW |
11 |
58,393,222 (GRCm39) |
missense |
unknown |
|
|
R1547:Or2t49
|
UTSW |
11 |
58,392,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1697:Or2t49
|
UTSW |
11 |
58,392,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1717:Or2t49
|
UTSW |
11 |
58,392,885 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1721:Or2t49
|
UTSW |
11 |
58,392,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2194:Or2t49
|
UTSW |
11 |
58,392,468 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3606:Or2t49
|
UTSW |
11 |
58,392,957 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4457:Or2t49
|
UTSW |
11 |
58,392,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4766:Or2t49
|
UTSW |
11 |
58,392,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4858:Or2t49
|
UTSW |
11 |
58,392,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5475:Or2t49
|
UTSW |
11 |
58,392,431 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5822:Or2t49
|
UTSW |
11 |
58,392,464 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6337:Or2t49
|
UTSW |
11 |
58,392,838 (GRCm39) |
nonsense |
probably null |
|
|
R6416:Or2t49
|
UTSW |
11 |
58,393,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7101:Or2t49
|
UTSW |
11 |
58,393,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7108:Or2t49
|
UTSW |
11 |
58,393,380 (GRCm39) |
missense |
probably benign |
|
|
R8327:Or2t49
|
UTSW |
11 |
58,392,942 (GRCm39) |
missense |
probably benign |
|
|
R9507:Or2t49
|
UTSW |
11 |
58,392,576 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
RF035:Or2t49
|
UTSW |
11 |
58,393,208 (GRCm39) |
small deletion |
probably benign |
|
|
Z1186:Or2t49
|
UTSW |
11 |
58,393,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1186:Or2t49
|
UTSW |
11 |
58,393,396 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
|
Z1186:Or2t49
|
UTSW |
11 |
58,393,212 (GRCm39) |
small deletion |
probably benign |
|
|
Z1186:Or2t49
|
UTSW |
11 |
58,393,210 (GRCm39) |
small deletion |
probably benign |
|
|
Z1187:Or2t49
|
UTSW |
11 |
58,392,936 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1187:Or2t49
|
UTSW |
11 |
58,393,212 (GRCm39) |
small deletion |
probably benign |
|
|
Z1187:Or2t49
|
UTSW |
11 |
58,393,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Or2t49
|
UTSW |
11 |
58,393,396 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
|
Z1187:Or2t49
|
UTSW |
11 |
58,392,474 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Or2t49
|
UTSW |
11 |
58,392,927 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2t49
|
UTSW |
11 |
58,392,927 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2t49
|
UTSW |
11 |
58,392,474 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2t49
|
UTSW |
11 |
58,393,396 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
|
Z1188:Or2t49
|
UTSW |
11 |
58,393,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Or2t49
|
UTSW |
11 |
58,393,212 (GRCm39) |
small deletion |
probably benign |
|
|
Z1188:Or2t49
|
UTSW |
11 |
58,392,936 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1189:Or2t49
|
UTSW |
11 |
58,393,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:Or2t49
|
UTSW |
11 |
58,393,212 (GRCm39) |
small deletion |
probably benign |
|
|
Z1189:Or2t49
|
UTSW |
11 |
58,393,396 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
|
Z1190:Or2t49
|
UTSW |
11 |
58,392,927 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2t49
|
UTSW |
11 |
58,392,474 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2t49
|
UTSW |
11 |
58,393,396 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
|
Z1190:Or2t49
|
UTSW |
11 |
58,393,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:Or2t49
|
UTSW |
11 |
58,393,212 (GRCm39) |
small deletion |
probably benign |
|
|
Z1190:Or2t49
|
UTSW |
11 |
58,392,936 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1191:Or2t49
|
UTSW |
11 |
58,392,474 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Or2t49
|
UTSW |
11 |
58,393,396 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
|
Z1191:Or2t49
|
UTSW |
11 |
58,393,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1191:Or2t49
|
UTSW |
11 |
58,393,212 (GRCm39) |
small deletion |
probably benign |
|
|
Z1191:Or2t49
|
UTSW |
11 |
58,392,936 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1191:Or2t49
|
UTSW |
11 |
58,392,927 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Or2t49
|
UTSW |
11 |
58,393,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:Or2t49
|
UTSW |
11 |
58,393,212 (GRCm39) |
small deletion |
probably benign |
|
|
Z1192:Or2t49
|
UTSW |
11 |
58,393,210 (GRCm39) |
small deletion |
probably benign |
|
|
Z1192:Or2t49
|
UTSW |
11 |
58,393,396 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
|
| Posted On |
2013-06-21 |
Incidental Mutation