Incidental Mutation 'IGL01484:Or2t48'
| ID |
88859 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or2t48
|
| Ensembl Gene |
ENSMUSG00000050818 |
| Gene Name |
olfactory receptor family 2 subfamily T member 48 |
| Synonyms |
Olfr330, MOR275-1, GA_x6K02T2NKPP-895420-896349 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL01484
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
58419755-58425651 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58420222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 197
(W197R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000134055]
[ENSMUST00000213188]
|
| AlphaFold |
Q8VGD9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062869
AA Change: W197R
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000063194
Gene: ENSMUSG00000050818
AA Change: W197R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
312 |
1.6e-46 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
39 |
309 |
4.4e-6 |
PFAM |
|
Pfam:7tm_1
|
45 |
294 |
2.3e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117184
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134055
AA Change: W197R
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000145126
Gene: ENSMUSG00000050818
AA Change: W197R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
312 |
1.6e-46 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
39 |
309 |
4.4e-6 |
PFAM |
|
Pfam:7tm_1
|
45 |
294 |
2.3e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203550
|
| SMART Domains |
Protein: ENSMUSP00000145138
Gene: ENSMUSG00000050818
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
130 |
1.1e-13 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
39 |
130 |
1.3e-4 |
PFAM |
|
Pfam:7tm_1
|
45 |
130 |
6.3e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213188
AA Change: W197R
PolyPhen 2
Score 0.170 (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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd36 |
A |
G |
11: 5,579,006 (GRCm39) |
H90R |
possibly damaging |
Het |
| Arsj |
A |
G |
3: 126,158,685 (GRCm39) |
D88G |
probably damaging |
Het |
| Clca4b |
C |
T |
3: 144,633,996 (GRCm39) |
V140I |
probably benign |
Het |
| Dagla |
A |
C |
19: 10,225,884 (GRCm39) |
L760R |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,021,897 (GRCm39) |
E1202G |
probably damaging |
Het |
| Hdac9 |
T |
C |
12: 34,487,164 (GRCm39) |
H100R |
probably damaging |
Het |
| Hhip |
T |
C |
8: 80,723,412 (GRCm39) |
H414R |
probably damaging |
Het |
| Hk2 |
G |
A |
6: 82,713,711 (GRCm39) |
T457M |
probably damaging |
Het |
| Iapp |
A |
G |
6: 142,249,165 (GRCm39) |
T73A |
possibly damaging |
Het |
| Ifit1 |
A |
G |
19: 34,626,243 (GRCm39) |
N460D |
probably damaging |
Het |
| Itpa |
T |
C |
2: 130,514,019 (GRCm39) |
F77L |
probably benign |
Het |
| Knop1 |
T |
C |
7: 118,452,032 (GRCm39) |
D229G |
probably damaging |
Het |
| Lrrc32 |
T |
C |
7: 98,143,442 (GRCm39) |
I5T |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,734,629 (GRCm39) |
V622M |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,571,400 (GRCm39) |
E866G |
probably damaging |
Het |
| Palmd |
G |
A |
3: 116,746,794 (GRCm39) |
|
probably benign |
Het |
| Pcbp4 |
A |
G |
9: 106,337,848 (GRCm39) |
|
probably null |
Het |
| Pigf |
T |
C |
17: 87,316,308 (GRCm39) |
I157V |
probably benign |
Het |
| Pot1b |
G |
A |
17: 56,002,160 (GRCm39) |
T138M |
possibly damaging |
Het |
| Prl7a2 |
T |
A |
13: 27,843,191 (GRCm39) |
D204V |
probably damaging |
Het |
| Rfc3 |
A |
T |
5: 151,566,401 (GRCm39) |
D349E |
probably benign |
Het |
| Sarm1 |
A |
T |
11: 78,381,839 (GRCm39) |
C215S |
probably damaging |
Het |
| Serpine1 |
T |
C |
5: 137,092,326 (GRCm39) |
|
probably benign |
Het |
| Strip1 |
A |
G |
3: 107,520,575 (GRCm39) |
V825A |
probably damaging |
Het |
| Stx12 |
A |
G |
4: 132,611,673 (GRCm39) |
S2P |
probably damaging |
Het |
| Sycp1 |
A |
C |
3: 102,823,183 (GRCm39) |
S311R |
probably benign |
Het |
| Tfpi |
A |
T |
2: 84,275,169 (GRCm39) |
C139* |
probably null |
Het |
| Tmc5 |
T |
A |
7: 118,256,010 (GRCm39) |
I695N |
probably damaging |
Het |
| Tmem169 |
T |
C |
1: 72,340,263 (GRCm39) |
V231A |
probably damaging |
Het |
| Ttbk2 |
T |
G |
2: 120,570,314 (GRCm39) |
S1211R |
possibly damaging |
Het |
| Ubr3 |
C |
T |
2: 69,851,888 (GRCm39) |
R1855* |
probably null |
Het |
| Urb1 |
A |
T |
16: 90,574,448 (GRCm39) |
S878T |
probably benign |
Het |
| Vmn1r174 |
T |
A |
7: 23,453,749 (GRCm39) |
Y138* |
probably null |
Het |
| Zfp282 |
A |
G |
6: 47,867,054 (GRCm39) |
N214D |
possibly damaging |
Het |
|
| Other mutations in Or2t48 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01672:Or2t48
|
APN |
11 |
58,419,948 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01782:Or2t48
|
APN |
11 |
58,419,985 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01998:Or2t48
|
APN |
11 |
58,420,403 (GRCm39) |
nonsense |
probably null |
|
|
IGL02538:Or2t48
|
APN |
11 |
58,420,816 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1670:Or2t48
|
UTSW |
11 |
58,420,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1727:Or2t48
|
UTSW |
11 |
58,420,342 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1768:Or2t48
|
UTSW |
11 |
58,420,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1839:Or2t48
|
UTSW |
11 |
58,420,199 (GRCm39) |
nonsense |
probably null |
|
|
R2129:Or2t48
|
UTSW |
11 |
58,420,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2135:Or2t48
|
UTSW |
11 |
58,420,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2425:Or2t48
|
UTSW |
11 |
58,420,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3753:Or2t48
|
UTSW |
11 |
58,420,516 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4480:Or2t48
|
UTSW |
11 |
58,420,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4827:Or2t48
|
UTSW |
11 |
58,420,422 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4836:Or2t48
|
UTSW |
11 |
58,420,308 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4973:Or2t48
|
UTSW |
11 |
58,419,903 (GRCm39) |
missense |
probably benign |
|
|
R5128:Or2t48
|
UTSW |
11 |
58,420,248 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5288:Or2t48
|
UTSW |
11 |
58,420,308 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5326:Or2t48
|
UTSW |
11 |
58,420,710 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5542:Or2t48
|
UTSW |
11 |
58,420,710 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5620:Or2t48
|
UTSW |
11 |
58,420,557 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6210:Or2t48
|
UTSW |
11 |
58,420,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7163:Or2t48
|
UTSW |
11 |
58,419,994 (GRCm39) |
nonsense |
probably null |
|
|
R7886:Or2t48
|
UTSW |
11 |
58,419,880 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8201:Or2t48
|
UTSW |
11 |
58,419,865 (GRCm39) |
makesense |
noncoding transcript |
|
|
R8519:Or2t48
|
UTSW |
11 |
58,420,329 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8728:Or2t48
|
UTSW |
11 |
58,420,027 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9175:Or2t48
|
UTSW |
11 |
58,420,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9178:Or2t48
|
UTSW |
11 |
58,420,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9190:Or2t48
|
UTSW |
11 |
58,420,161 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9471:Or2t48
|
UTSW |
11 |
58,420,355 (GRCm39) |
nonsense |
probably null |
|
|
RF003:Or2t48
|
UTSW |
11 |
58,419,983 (GRCm39) |
frame shift |
probably null |
|
|
RF004:Or2t48
|
UTSW |
11 |
58,419,983 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2013-11-18 |
Incidental Mutation