Incidental Mutation 'IGL02057:Or51b6b'
| ID |
185264 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or51b6b
|
| Ensembl Gene |
ENSMUSG00000099687 |
| Gene Name |
olfactory receptor family 51 subfamily B member 6B |
| Synonyms |
Olfr623, GA_x6K02T2PBJ9-6384836-6383883, MOR1-4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
IGL02057
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
103309451-103310525 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103309860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 199
(Y199F)
|
| 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: Y199F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070658
Gene: ENSMUSG00000099687
AA Change: Y199F
| 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: Y199F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankk1 |
T |
C |
9: 49,328,072 (GRCm39) |
N369S |
probably damaging |
Het |
| Atp13a3 |
C |
T |
16: 30,151,182 (GRCm39) |
A1043T |
probably benign |
Het |
| AY358078 |
G |
A |
14: 52,057,762 (GRCm39) |
V287I |
unknown |
Het |
| Cemip |
T |
C |
7: 83,636,661 (GRCm39) |
E324G |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,431,052 (GRCm39) |
D1487E |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,517,273 (GRCm39) |
Q879* |
probably null |
Het |
| Eci2 |
A |
G |
13: 35,174,759 (GRCm39) |
L50P |
probably damaging |
Het |
| Erp44 |
A |
T |
4: 48,236,964 (GRCm39) |
H65Q |
probably benign |
Het |
| Fahd1 |
A |
T |
17: 25,068,570 (GRCm39) |
I169N |
probably damaging |
Het |
| Galm |
T |
C |
17: 80,488,996 (GRCm39) |
I214T |
probably benign |
Het |
| Gipc3 |
T |
A |
10: 81,178,968 (GRCm39) |
N42Y |
probably damaging |
Het |
| H2-Eb2 |
A |
T |
17: 34,554,741 (GRCm39) |
|
probably benign |
Het |
| Itgb3 |
A |
T |
11: 104,523,174 (GRCm39) |
I113F |
probably damaging |
Het |
| Lef1 |
T |
G |
3: 130,994,051 (GRCm39) |
Y342* |
probably null |
Het |
| Lilrb4a |
G |
A |
10: 51,368,103 (GRCm39) |
D168N |
possibly damaging |
Het |
| Or5m10 |
T |
A |
2: 85,717,275 (GRCm39) |
F44I |
probably benign |
Het |
| Orc1 |
T |
G |
4: 108,445,926 (GRCm39) |
S15A |
possibly damaging |
Het |
| Pdk2 |
C |
T |
11: 94,919,324 (GRCm39) |
G317D |
probably benign |
Het |
| Rab37 |
T |
C |
11: 115,051,543 (GRCm39) |
S217P |
probably benign |
Het |
| Rere |
C |
T |
4: 150,699,289 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,594,536 (GRCm39) |
G1286S |
probably damaging |
Het |
| Sirt1 |
A |
G |
10: 63,160,982 (GRCm39) |
S357P |
probably damaging |
Het |
| Smpdl3b |
T |
A |
4: 132,461,024 (GRCm39) |
E351V |
probably benign |
Het |
| Sox6 |
C |
A |
7: 115,149,310 (GRCm39) |
G355W |
probably damaging |
Het |
| Spopfm2 |
T |
A |
3: 94,083,662 (GRCm39) |
S50C |
probably damaging |
Het |
| Srpk2 |
G |
T |
5: 23,723,705 (GRCm39) |
A502E |
probably damaging |
Het |
| Trim67 |
G |
A |
8: 125,549,869 (GRCm39) |
V500I |
probably benign |
Het |
| Ube2v2 |
A |
G |
16: 15,394,922 (GRCm39) |
V83A |
probably benign |
Het |
| Usp43 |
A |
T |
11: 67,747,113 (GRCm39) |
S865T |
probably benign |
Het |
| Vdac1 |
G |
A |
11: 52,267,371 (GRCm39) |
|
probably null |
Het |
| Vmn2r69 |
T |
A |
7: 85,060,990 (GRCm39) |
H198L |
possibly damaging |
Het |
| Vmn2r93 |
T |
C |
17: 18,546,032 (GRCm39) |
C635R |
probably damaging |
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 |
|
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 |
|
R0862:Or51b6b
|
UTSW |
7 |
103,309,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation