Incidental Mutation 'R4480:Or2t48'
| ID |
331438 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2t48
|
| Ensembl Gene |
ENSMUSG00000050818 |
| Gene Name |
olfactory receptor family 2 subfamily T member 48 |
| Synonyms |
Olfr330, MOR275-1, GA_x6K02T2NKPP-895420-896349 |
| MMRRC Submission |
041737-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R4480 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58419755-58425651 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 58420627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 62
(P62T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000134055]
[ENSMUST00000213188]
|
| AlphaFold |
Q8VGD9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062869
AA Change: P62T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000063194
Gene: ENSMUSG00000050818
AA Change: P62T
| 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 damaging
Transcript: ENSMUST00000134055
AA Change: P62T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145126
Gene: ENSMUSG00000050818
AA Change: P62T
| 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
AA Change: P62T
|
| SMART Domains |
Protein: ENSMUSP00000145138
Gene: ENSMUSG00000050818
AA Change: P62T
| 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 damaging
Transcript: ENSMUST00000213188
AA Change: P62T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.8359 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
95% (40/42) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,654,663 (GRCm39) |
T553A |
possibly damaging |
Het |
| Adgrb3 |
A |
T |
1: 25,150,829 (GRCm39) |
F1135I |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,476,348 (GRCm39) |
F1490L |
probably damaging |
Het |
| Begain |
A |
G |
12: 109,000,049 (GRCm39) |
Y446H |
probably damaging |
Het |
| Cdh15 |
A |
G |
8: 123,591,415 (GRCm39) |
H517R |
probably benign |
Het |
| Cemip2 |
A |
G |
19: 21,792,853 (GRCm39) |
Q703R |
probably benign |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,155 (GRCm39) |
H187N |
possibly damaging |
Het |
| Dip2b |
C |
T |
15: 100,084,182 (GRCm39) |
T935M |
probably damaging |
Het |
| Eif2s2 |
T |
C |
2: 154,730,190 (GRCm39) |
T36A |
probably benign |
Het |
| Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,048,470 (GRCm39) |
Y555C |
probably damaging |
Het |
| Fpr2 |
C |
T |
17: 18,114,015 (GRCm39) |
T337I |
probably benign |
Het |
| Frem3 |
A |
T |
8: 81,337,986 (GRCm39) |
Q93L |
probably benign |
Het |
| Gapdh |
A |
G |
6: 125,140,145 (GRCm39) |
V119A |
possibly damaging |
Het |
| Gm3159 |
T |
C |
14: 4,398,584 (GRCm38) |
Y92H |
probably damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,227,151 (GRCm39) |
I769V |
probably benign |
Het |
| Ifne |
T |
C |
4: 88,797,838 (GRCm39) |
*193W |
probably null |
Het |
| Katna1 |
T |
C |
10: 7,614,594 (GRCm39) |
V32A |
probably damaging |
Het |
| Nup107 |
T |
C |
10: 117,597,237 (GRCm39) |
I673V |
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,212,141 (GRCm39) |
|
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or10g1 |
G |
A |
14: 52,647,765 (GRCm39) |
A188V |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,453,805 (GRCm39) |
S62T |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,472,205 (GRCm39) |
V44A |
probably damaging |
Het |
| Psg18 |
C |
T |
7: 18,084,787 (GRCm39) |
S103N |
probably benign |
Het |
| Ptprcap |
A |
G |
19: 4,206,223 (GRCm39) |
E102G |
probably benign |
Het |
| Ptprs |
A |
G |
17: 56,733,404 (GRCm39) |
V804A |
possibly damaging |
Het |
| Rab35 |
C |
A |
5: 115,775,823 (GRCm39) |
S34* |
probably null |
Het |
| Slco6d1 |
T |
A |
1: 98,435,299 (GRCm39) |
Y671* |
probably null |
Het |
| Sostdc1 |
A |
G |
12: 36,367,165 (GRCm39) |
I114V |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,284,529 (GRCm39) |
F852S |
possibly damaging |
Het |
| Tmem179 |
T |
C |
12: 112,469,737 (GRCm39) |
E21G |
probably benign |
Het |
| Usp17la |
T |
A |
7: 104,509,897 (GRCm39) |
H167Q |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,363,986 (GRCm39) |
|
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,117,999 (GRCm39) |
|
probably null |
Het |
| Wdr73 |
T |
C |
7: 80,542,969 (GRCm39) |
E213G |
probably benign |
Het |
| Zfp985 |
A |
G |
4: 147,668,536 (GRCm39) |
D468G |
probably benign |
Het |
|
| Other mutations in Or2t48 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01484:Or2t48
|
APN |
11 |
58,420,222 (GRCm39) |
missense |
probably benign |
0.17 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGCGGTCGTAGGACATGG -3'
(R):5'- TCTTGGTTGCCTAGGAGACACC -3'
Sequencing Primer
(F):5'- TCGTAGGACATGGCAGCCAG -3'
(R):5'- TTGCCTAGGAGACACCCATGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation