Incidental Mutation 'R6775:Or8k40'
| ID |
532322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8k40
|
| Ensembl Gene |
ENSMUSG00000075172 |
| Gene Name |
olfactory receptor family 8 subfamily K member 40 |
| Synonyms |
MOR188-4, GA_x6K02T2Q125-48247345-48246404, Olfr1090 |
| MMRRC Submission |
044891-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6775 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
86584139-86585080 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 86584921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 54
(R54C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149968
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099875]
[ENSMUST00000215991]
[ENSMUST00000217043]
|
| AlphaFold |
Q8VGA6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099875
AA Change: R54C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000097460
Gene: ENSMUSG00000075172
AA Change: R54C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1.4e-47 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
7.1e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215991
AA Change: R54C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217043
AA Change: R54C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
G |
A |
13: 104,450,160 (GRCm39) |
V289M |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,113,040 (GRCm39) |
D862G |
possibly damaging |
Het |
| Ccn6 |
T |
C |
10: 39,027,351 (GRCm39) |
T294A |
probably damaging |
Het |
| Colec10 |
A |
G |
15: 54,298,419 (GRCm39) |
E60G |
possibly damaging |
Het |
| Cpne1 |
A |
G |
2: 155,920,340 (GRCm39) |
V179A |
probably damaging |
Het |
| Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
| Gmip |
A |
G |
8: 70,268,285 (GRCm39) |
D423G |
possibly damaging |
Het |
| Ints15 |
C |
A |
5: 143,297,493 (GRCm39) |
V185L |
probably benign |
Het |
| Klk1b24 |
A |
G |
7: 43,840,889 (GRCm39) |
M106V |
probably benign |
Het |
| Or14c39 |
A |
G |
7: 86,344,357 (GRCm39) |
E231G |
probably benign |
Het |
| Or7g30 |
A |
T |
9: 19,352,718 (GRCm39) |
T170S |
possibly damaging |
Het |
| Orc1 |
T |
A |
4: 108,460,652 (GRCm39) |
F496I |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Phf11b |
A |
T |
14: 59,576,094 (GRCm39) |
N47K |
probably benign |
Het |
| Plscr4 |
G |
A |
9: 92,364,858 (GRCm39) |
M94I |
probably benign |
Het |
| Ppip5k2 |
A |
T |
1: 97,647,585 (GRCm39) |
V1047E |
possibly damaging |
Het |
| Scn3a |
A |
G |
2: 65,352,159 (GRCm39) |
Y384H |
possibly damaging |
Het |
| Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
| Smc1b |
T |
C |
15: 84,973,881 (GRCm39) |
E925G |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 42,003,748 (GRCm39) |
Y183H |
possibly damaging |
Het |
| Tarbp1 |
A |
C |
8: 127,163,568 (GRCm39) |
D1151E |
probably benign |
Het |
| Vmn2r3 |
T |
C |
3: 64,183,039 (GRCm39) |
H220R |
possibly damaging |
Het |
| Wdr5 |
A |
G |
2: 27,423,386 (GRCm39) |
Y260C |
probably damaging |
Het |
|
| Other mutations in Or8k40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01118:Or8k40
|
APN |
2 |
86,584,314 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL01343:Or8k40
|
APN |
2 |
86,584,843 (GRCm39) |
nonsense |
probably null |
|
|
IGL01431:Or8k40
|
APN |
2 |
86,584,508 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01771:Or8k40
|
APN |
2 |
86,584,626 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03182:Or8k40
|
APN |
2 |
86,584,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03229:Or8k40
|
APN |
2 |
86,584,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0126:Or8k40
|
UTSW |
2 |
86,584,981 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0128:Or8k40
|
UTSW |
2 |
86,584,231 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0130:Or8k40
|
UTSW |
2 |
86,584,231 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1383:Or8k40
|
UTSW |
2 |
86,584,838 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2100:Or8k40
|
UTSW |
2 |
86,584,905 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2125:Or8k40
|
UTSW |
2 |
86,584,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2126:Or8k40
|
UTSW |
2 |
86,584,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2249:Or8k40
|
UTSW |
2 |
86,584,398 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3695:Or8k40
|
UTSW |
2 |
86,584,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3878:Or8k40
|
UTSW |
2 |
86,584,972 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3940:Or8k40
|
UTSW |
2 |
86,584,275 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3944:Or8k40
|
UTSW |
2 |
86,584,525 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3975:Or8k40
|
UTSW |
2 |
86,584,887 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4387:Or8k40
|
UTSW |
2 |
86,584,464 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4623:Or8k40
|
UTSW |
2 |
86,584,906 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4740:Or8k40
|
UTSW |
2 |
86,584,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7002:Or8k40
|
UTSW |
2 |
86,585,025 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7746:Or8k40
|
UTSW |
2 |
86,584,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8296:Or8k40
|
UTSW |
2 |
86,584,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9038:Or8k40
|
UTSW |
2 |
86,584,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9243:Or8k40
|
UTSW |
2 |
86,584,282 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCCACATAGCGGTCATAG -3'
(R):5'- GCCAAGTATGTAAGAGCTATTCACTG -3'
Sequencing Primer
(F):5'- CACATAGCGGTCATAGGACATCG -3'
(R):5'- AGAGCTATTCACTGTTTTTTCTTCTT -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation