Incidental Mutation 'R0862:Or51b6b'
ID |
82150 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or51b6b
|
Ensembl Gene |
ENSMUSG00000099687 |
Gene Name |
olfactory receptor family 51 subfamily B member 6B |
Synonyms |
Olfr623, GA_x6K02T2PBJ9-6384836-6383883, MOR1-4 |
MMRRC Submission |
039036-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.184)
|
Stock # |
R0862 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
103309451-103310525 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103309735 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 241
(T241A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150141
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062144]
[ENSMUST00000068531]
[ENSMUST00000213840]
|
AlphaFold |
E9Q382 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000062144
|
SMART Domains |
Protein: ENSMUSP00000049938 Gene: ENSMUSG00000045780
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
27 |
306 |
3.3e-138 |
PFAM |
Pfam:7tm_1
|
37 |
288 |
1.8e-19 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068531
AA Change: T241A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000070658 Gene: ENSMUSG00000099687 AA Change: T241A
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
32 |
310 |
1.7e-112 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
36 |
299 |
3.1e-7 |
PFAM |
Pfam:7tm_1
|
42 |
293 |
2.6e-19 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213840
AA Change: T241A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.4030 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 94.9%
- 20x: 87.0%
|
Validation Efficiency |
100% (40/40) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
9230009I02Rik |
T |
C |
11: 50,982,144 (GRCm39) |
|
noncoding transcript |
Het |
Adamts13 |
G |
A |
2: 26,896,336 (GRCm39) |
|
probably null |
Het |
Chac1 |
C |
A |
2: 119,183,950 (GRCm39) |
A184E |
probably damaging |
Het |
Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
Csmd1 |
T |
A |
8: 16,240,040 (GRCm39) |
Y1124F |
probably damaging |
Het |
Ctnnbl1 |
C |
T |
2: 157,641,337 (GRCm39) |
|
probably benign |
Het |
Dyrk4 |
T |
C |
6: 126,854,296 (GRCm39) |
E499G |
possibly damaging |
Het |
Fat1 |
T |
A |
8: 45,471,074 (GRCm39) |
I1603N |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,184,811 (GRCm39) |
C1660* |
probably null |
Het |
Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
Gm19684 |
A |
T |
17: 36,432,792 (GRCm39) |
|
probably benign |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Map4 |
A |
G |
9: 109,808,037 (GRCm39) |
Y34C |
probably damaging |
Het |
Mapk8 |
C |
T |
14: 33,114,949 (GRCm39) |
R189H |
probably damaging |
Het |
Mgst1 |
C |
T |
6: 138,124,749 (GRCm39) |
T21M |
probably damaging |
Het |
Msh2 |
A |
G |
17: 87,987,480 (GRCm39) |
T207A |
probably benign |
Het |
Mthfd2 |
A |
G |
6: 83,290,376 (GRCm39) |
V85A |
probably damaging |
Het |
Muc4 |
A |
G |
16: 32,570,820 (GRCm39) |
S627G |
probably benign |
Het |
Nbeal2 |
G |
A |
9: 110,457,263 (GRCm39) |
T2266I |
probably damaging |
Het |
Or7g16 |
T |
C |
9: 18,727,002 (GRCm39) |
Y196C |
probably damaging |
Het |
Or8d1 |
T |
C |
9: 38,766,478 (GRCm39) |
V40A |
possibly damaging |
Het |
Pcdhb2 |
G |
A |
18: 37,428,710 (GRCm39) |
V228I |
possibly damaging |
Het |
Pdcd6ip |
A |
T |
9: 113,503,578 (GRCm39) |
|
probably benign |
Het |
Piwil2 |
T |
C |
14: 70,632,823 (GRCm39) |
D583G |
probably benign |
Het |
Plin4 |
T |
A |
17: 56,410,966 (GRCm39) |
M1022L |
probably benign |
Het |
Rbm48 |
A |
G |
5: 3,640,438 (GRCm39) |
S314P |
probably benign |
Het |
Rbms3 |
A |
T |
9: 117,458,860 (GRCm39) |
|
probably benign |
Het |
Snx14 |
A |
T |
9: 88,266,049 (GRCm39) |
S726T |
possibly damaging |
Het |
Trim43c |
A |
T |
9: 88,725,087 (GRCm39) |
H202L |
probably benign |
Het |
Trip12 |
A |
G |
1: 84,721,730 (GRCm39) |
F1334S |
probably damaging |
Het |
Tyk2 |
T |
C |
9: 21,027,463 (GRCm39) |
H503R |
probably benign |
Het |
Ubr2 |
G |
A |
17: 47,278,009 (GRCm39) |
Q745* |
probably null |
Het |
Ush2a |
T |
A |
1: 188,275,015 (GRCm39) |
Y1829* |
probably null |
Het |
Vmn2r65 |
T |
A |
7: 84,592,853 (GRCm39) |
E451D |
probably benign |
Het |
|
Other mutations in Or51b6b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00969:Or51b6b
|
APN |
7 |
103,310,274 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01669:Or51b6b
|
APN |
7 |
103,310,194 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01731:Or51b6b
|
APN |
7 |
103,310,053 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02057:Or51b6b
|
APN |
7 |
103,309,860 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02249:Or51b6b
|
APN |
7 |
103,309,573 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02937:Or51b6b
|
APN |
7 |
103,310,112 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03113:Or51b6b
|
APN |
7 |
103,309,851 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0413:Or51b6b
|
UTSW |
7 |
103,309,957 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1262:Or51b6b
|
UTSW |
7 |
103,309,648 (GRCm39) |
missense |
probably benign |
0.33 |
R1791:Or51b6b
|
UTSW |
7 |
103,310,005 (GRCm39) |
splice site |
probably null |
|
R2327:Or51b6b
|
UTSW |
7 |
103,309,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R2338:Or51b6b
|
UTSW |
7 |
103,309,617 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4521:Or51b6b
|
UTSW |
7 |
103,309,539 (GRCm39) |
missense |
probably benign |
0.01 |
R4831:Or51b6b
|
UTSW |
7 |
103,309,678 (GRCm39) |
missense |
probably benign |
0.40 |
R5322:Or51b6b
|
UTSW |
7 |
103,309,879 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6270:Or51b6b
|
UTSW |
7 |
103,309,620 (GRCm39) |
missense |
possibly damaging |
0.48 |
R6959:Or51b6b
|
UTSW |
7 |
103,310,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R7157:Or51b6b
|
UTSW |
7 |
103,309,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R7181:Or51b6b
|
UTSW |
7 |
103,310,020 (GRCm39) |
missense |
probably damaging |
0.99 |
R7570:Or51b6b
|
UTSW |
7 |
103,310,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R9037:Or51b6b
|
UTSW |
7 |
103,310,382 (GRCm39) |
missense |
probably benign |
0.32 |
R9234:Or51b6b
|
UTSW |
7 |
103,309,950 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9525:Or51b6b
|
UTSW |
7 |
103,310,142 (GRCm39) |
missense |
probably damaging |
1.00 |
X0066:Or51b6b
|
UTSW |
7 |
103,309,867 (GRCm39) |
missense |
probably benign |
0.18 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCGAAGCAAACCACTCTGAATCTG -3'
(R):5'- GGAGTAACATTGACCACCATGCCC -3'
Sequencing Primer
(F):5'- AAACCACTCTGAATCTGTTTGGTC -3'
(R):5'- TTCAATCACAGGGAAATTGGC -3'
|
Posted On |
2013-11-08 |