Incidental Mutation 'R1412:Or52e8b'
| ID |
159632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or52e8b
|
| Ensembl Gene |
ENSMUSG00000096773 |
| Gene Name |
olfactory receptor family 52 subfamily E member 8B |
| Synonyms |
MOR32-9P, Olfr675, GA_x6K02T2PBJ9-7653782-7652841 |
| MMRRC Submission |
039468-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.480)
|
| Stock # |
R1412 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
104673232-104674173 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104673402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 262
(F262L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073102]
[ENSMUST00000210113]
[ENSMUST00000214318]
[ENSMUST00000215899]
|
| AlphaFold |
A0A1B0GSE1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073102
AA Change: F258L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072847
Gene: ENSMUSG00000096773
AA Change: F258L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
311 |
5e-118 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
308 |
1.9e-6 |
PFAM |
|
Pfam:7tm_1
|
43 |
293 |
2.6e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210113
AA Change: F262L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214318
AA Change: F262L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215899
AA Change: F262L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.3030 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.5%
|
| Validation Efficiency |
98% (48/49) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
T |
C |
19: 8,867,359 (GRCm39) |
|
probably benign |
Het |
| Abca15 |
C |
T |
7: 119,944,546 (GRCm39) |
R394C |
possibly damaging |
Het |
| Adamts9 |
T |
C |
6: 92,773,414 (GRCm39) |
Q1152R |
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,243,569 (GRCm39) |
G6277E |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,619,298 (GRCm39) |
N41S |
probably benign |
Het |
| Akap7 |
A |
T |
10: 25,165,495 (GRCm39) |
|
probably null |
Het |
| Arl6ip1 |
A |
G |
7: 117,719,591 (GRCm39) |
I179T |
possibly damaging |
Het |
| Atp1a4 |
C |
T |
1: 172,059,576 (GRCm39) |
D839N |
probably damaging |
Het |
| B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
| C1qtnf12 |
T |
C |
4: 156,047,190 (GRCm39) |
V52A |
probably benign |
Het |
| C1qtnf2 |
A |
G |
11: 43,381,959 (GRCm39) |
Y257C |
probably damaging |
Het |
| Cdc123 |
A |
T |
2: 5,808,776 (GRCm39) |
D233E |
possibly damaging |
Het |
| Chdh |
G |
A |
14: 29,756,680 (GRCm39) |
E369K |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,172,695 (GRCm39) |
V491A |
probably benign |
Het |
| Focad |
T |
C |
4: 88,196,498 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
T |
C |
17: 37,365,805 (GRCm39) |
|
probably null |
Het |
| Hat1 |
G |
T |
2: 71,250,961 (GRCm39) |
E170* |
probably null |
Het |
| Hs3st5 |
A |
T |
10: 36,708,672 (GRCm39) |
H69L |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,235,196 (GRCm39) |
|
probably benign |
Het |
| Itga2b |
A |
T |
11: 102,347,831 (GRCm39) |
L890Q |
probably benign |
Het |
| Or7d11 |
C |
G |
9: 19,966,711 (GRCm39) |
G16A |
possibly damaging |
Het |
| Parp10 |
A |
G |
15: 76,127,284 (GRCm39) |
L51P |
probably damaging |
Het |
| Pbld2 |
A |
G |
10: 62,883,301 (GRCm39) |
T108A |
probably damaging |
Het |
| Pdlim2 |
A |
T |
14: 70,411,773 (GRCm39) |
|
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,241,989 (GRCm39) |
V243A |
possibly damaging |
Het |
| Pla2g12b |
G |
A |
10: 59,239,804 (GRCm39) |
|
probably null |
Het |
| Raly |
A |
G |
2: 154,699,315 (GRCm39) |
T40A |
possibly damaging |
Het |
| Rasgrp3 |
G |
T |
17: 75,816,822 (GRCm39) |
|
probably null |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Smim22 |
G |
C |
16: 4,825,649 (GRCm39) |
E11D |
possibly damaging |
Het |
| Socs2 |
T |
C |
10: 95,250,780 (GRCm39) |
S18G |
probably benign |
Het |
| Srgap2 |
T |
C |
1: 131,228,151 (GRCm39) |
E720G |
possibly damaging |
Het |
| Tas2r135 |
A |
G |
6: 42,382,768 (GRCm39) |
I102M |
probably benign |
Het |
| Tex19.2 |
A |
G |
11: 121,007,761 (GRCm39) |
V229A |
possibly damaging |
Het |
| Vmn1r234 |
T |
A |
17: 21,449,512 (GRCm39) |
I142N |
probably benign |
Het |
| Vps35l |
A |
T |
7: 118,409,194 (GRCm39) |
I612F |
probably damaging |
Het |
| Vwa3a |
C |
T |
7: 120,379,377 (GRCm39) |
T494I |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,641,199 (GRCm39) |
D1166G |
possibly damaging |
Het |
|
| Other mutations in Or52e8b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02639:Or52e8b
|
APN |
7 |
104,673,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02944:Or52e8b
|
APN |
7 |
104,674,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1182:Or52e8b
|
UTSW |
7 |
104,673,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1528:Or52e8b
|
UTSW |
7 |
104,673,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1555:Or52e8b
|
UTSW |
7 |
104,673,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1589:Or52e8b
|
UTSW |
7 |
104,673,767 (GRCm39) |
missense |
probably benign |
|
|
R1778:Or52e8b
|
UTSW |
7 |
104,673,370 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3690:Or52e8b
|
UTSW |
7 |
104,673,902 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3848:Or52e8b
|
UTSW |
7 |
104,673,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4784:Or52e8b
|
UTSW |
7 |
104,673,737 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5050:Or52e8b
|
UTSW |
7 |
104,673,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Or52e8b
|
UTSW |
7 |
104,673,260 (GRCm39) |
missense |
probably benign |
|
|
R5499:Or52e8b
|
UTSW |
7 |
104,674,184 (GRCm39) |
start codon destroyed |
probably null |
0.06 |
|
R5586:Or52e8b
|
UTSW |
7 |
104,673,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7244:Or52e8b
|
UTSW |
7 |
104,674,148 (GRCm39) |
missense |
probably benign |
|
|
R8297:Or52e8b
|
UTSW |
7 |
104,673,885 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8532:Or52e8b
|
UTSW |
7 |
104,673,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9087:Or52e8b
|
UTSW |
7 |
104,673,910 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Or52e8b
|
UTSW |
7 |
104,673,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAACAAAATCCTCATTACTTGCTCCCG -3'
(R):5'- GCTACGTTGCCATTTGTAAGCCCC -3'
Sequencing Primer
(F):5'- GAATTTGCTTGGTCCTTACCC -3'
(R):5'- CTTACTGTGAACACATGGGC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation