Incidental Mutation 'P4748:Or2t47'
| ID |
26547 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2t47
|
| Ensembl Gene |
ENSMUSG00000057654 |
| Gene Name |
olfactory receptor family 2 subfamily T member 47 |
| Synonyms |
GA_x6K02T2NKPP-873285-874217, MOR275-2, Olfr328 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
P4748 ()
of strain
712
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
11 |
| Chromosomal Location |
58442131-58443063 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 58442348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 239
(T239I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150086
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073933]
[ENSMUST00000108824]
[ENSMUST00000215717]
[ENSMUST00000216725]
|
| AlphaFold |
Q5NCD3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073933
AA Change: T239I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073588
Gene: ENSMUSG00000057654
AA Change: T239I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
34 |
303 |
8.3e-6 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
1.4e-34 |
PFAM |
|
Pfam:7tm_4
|
138 |
282 |
4.4e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108824
AA Change: T239I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104452
Gene: ENSMUSG00000057654
AA Change: T239I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
306 |
7e-45 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
34 |
303 |
8.3e-6 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
9.8e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215717
AA Change: T239I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216725
AA Change: T239I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.2522 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.5%
- 20x: 94.5%
|
| Validation Efficiency |
87% (26/30) |
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
| 4930556J24Rik |
A |
T |
11: 3,888,178 (GRCm39) |
|
probably null |
Het |
| Acoxl |
T |
C |
2: 127,928,264 (GRCm39) |
|
probably benign |
Het |
| Ahi1 |
G |
C |
10: 20,848,009 (GRCm39) |
R472S |
probably damaging |
Het |
| Akap10 |
A |
G |
11: 61,763,846 (GRCm39) |
L662P |
possibly damaging |
Het |
| Arhgef10 |
C |
T |
8: 14,978,925 (GRCm39) |
T64M |
possibly damaging |
Het |
| Ccr4 |
C |
T |
9: 114,321,906 (GRCm39) |
G53D |
probably damaging |
Het |
| Cdc25a |
T |
C |
9: 109,713,176 (GRCm39) |
|
probably benign |
Het |
| Clec4n |
A |
C |
6: 123,221,499 (GRCm39) |
Q114H |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,210,983 (GRCm39) |
|
probably benign |
Het |
| Depdc1a |
T |
C |
3: 159,228,184 (GRCm39) |
V312A |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,594,219 (GRCm39) |
P583L |
probably damaging |
Het |
| Klra8 |
A |
T |
6: 130,099,007 (GRCm39) |
D185E |
possibly damaging |
Het |
| Meis2 |
T |
A |
2: 115,694,961 (GRCm39) |
Q394L |
probably benign |
Het |
| Pzp |
C |
T |
6: 128,467,052 (GRCm39) |
G1107D |
probably damaging |
Het |
| Ralgapa2 |
C |
T |
2: 146,188,731 (GRCm39) |
W1350* |
probably null |
Het |
| Scand1 |
C |
A |
2: 156,153,865 (GRCm39) |
R135L |
probably damaging |
Het |
| Spopl |
A |
T |
2: 23,401,455 (GRCm39) |
M351K |
probably benign |
Het |
| Tmed4 |
T |
C |
11: 6,223,727 (GRCm39) |
|
probably benign |
Het |
| Ube2e2 |
A |
G |
14: 18,630,297 (GRCm38) |
|
probably null |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Usp51 |
GATGCAT |
GAT |
X: 151,791,227 (GRCm39) |
|
probably null |
Het |
| Wrap53 |
A |
T |
11: 69,453,031 (GRCm39) |
D425E |
probably damaging |
Het |
|
| Other mutations in Or2t47 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01950:Or2t47
|
APN |
11 |
58,442,560 (GRCm39) |
nonsense |
probably null |
|
|
IGL02887:Or2t47
|
APN |
11 |
58,442,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03409:Or2t47
|
APN |
11 |
58,442,388 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0504:Or2t47
|
UTSW |
11 |
58,442,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1637:Or2t47
|
UTSW |
11 |
58,442,246 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1863:Or2t47
|
UTSW |
11 |
58,442,849 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2158:Or2t47
|
UTSW |
11 |
58,442,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2404:Or2t47
|
UTSW |
11 |
58,442,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4024:Or2t47
|
UTSW |
11 |
58,442,222 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4073:Or2t47
|
UTSW |
11 |
58,442,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5261:Or2t47
|
UTSW |
11 |
58,442,877 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5399:Or2t47
|
UTSW |
11 |
58,442,969 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6053:Or2t47
|
UTSW |
11 |
58,442,892 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6411:Or2t47
|
UTSW |
11 |
58,442,483 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6709:Or2t47
|
UTSW |
11 |
58,442,862 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7243:Or2t47
|
UTSW |
11 |
58,442,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7540:Or2t47
|
UTSW |
11 |
58,442,457 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8359:Or2t47
|
UTSW |
11 |
58,443,029 (GRCm39) |
missense |
probably benign |
|
|
R8984:Or2t47
|
UTSW |
11 |
58,442,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9648:Or2t47
|
UTSW |
11 |
58,442,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9676:Or2t47
|
UTSW |
11 |
58,442,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1186:Or2t47
|
UTSW |
11 |
58,442,387 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Or2t47
|
UTSW |
11 |
58,442,801 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Or2t47
|
UTSW |
11 |
58,442,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Or2t47
|
UTSW |
11 |
58,442,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Or2t47
|
UTSW |
11 |
58,442,801 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Or2t47
|
UTSW |
11 |
58,442,387 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2t47
|
UTSW |
11 |
58,442,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Or2t47
|
UTSW |
11 |
58,442,801 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2t47
|
UTSW |
11 |
58,442,387 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Or2t47
|
UTSW |
11 |
58,442,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:Or2t47
|
UTSW |
11 |
58,442,801 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Or2t47
|
UTSW |
11 |
58,442,387 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2t47
|
UTSW |
11 |
58,442,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:Or2t47
|
UTSW |
11 |
58,442,801 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2t47
|
UTSW |
11 |
58,442,387 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Or2t47
|
UTSW |
11 |
58,442,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1191:Or2t47
|
UTSW |
11 |
58,442,801 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Or2t47
|
UTSW |
11 |
58,442,387 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Or2t47
|
UTSW |
11 |
58,442,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:Or2t47
|
UTSW |
11 |
58,442,801 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Or2t47
|
UTSW |
11 |
58,442,387 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGAGCATGAGACCCGGATCAAC -3'
(R):5'- TCAGACACCTGGCTCTATGAGACC -3'
Sequencing Primer
(F):5'- TAATGTGGGATGCTCACACC -3'
(R):5'- CTGTGACAGTCATTTCAGGCTC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation