Incidental Mutation 'R8361:Or10k2'
| ID |
645962 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10k2
|
| Ensembl Gene |
ENSMUSG00000047286 |
| Gene Name |
olfactory receptor family 10 subfamily K member 2 |
| Synonyms |
Olfr370, GA_x6K02T2NUPS-11609807-11610751, MOR267-16 |
| MMRRC Submission |
067735-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R8361 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
84267722-84268817 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84268715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 314
(H314R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058609]
[ENSMUST00000209408]
[ENSMUST00000214156]
|
| AlphaFold |
E9Q848 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058609
AA Change: H314R
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000055435
Gene: ENSMUSG00000047286
AA Change: H314R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.6e-44 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
6.2e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209408
AA Change: H314R
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214156
AA Change: H314R
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,632,153 (GRCm39) |
N161S |
possibly damaging |
Het |
| Alg2 |
T |
C |
4: 47,471,848 (GRCm39) |
Y320C |
probably damaging |
Het |
| Aox4 |
A |
T |
1: 58,279,998 (GRCm39) |
E538V |
probably benign |
Het |
| Carmil1 |
A |
C |
13: 24,251,113 (GRCm39) |
|
probably null |
Het |
| Chrd |
T |
C |
16: 20,557,487 (GRCm39) |
F702S |
possibly damaging |
Het |
| Dhx36 |
A |
T |
3: 62,388,221 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
G |
T |
15: 28,331,956 (GRCm39) |
V2181L |
probably damaging |
Het |
| Dnajc11 |
C |
A |
4: 152,055,368 (GRCm39) |
R229S |
probably damaging |
Het |
| Eml3 |
A |
G |
19: 8,914,801 (GRCm39) |
N579D |
possibly damaging |
Het |
| Fam163b |
G |
A |
2: 27,002,650 (GRCm39) |
R116C |
probably benign |
Het |
| Fbxw2 |
A |
G |
2: 34,697,426 (GRCm39) |
C314R |
possibly damaging |
Het |
| Gm4847 |
T |
A |
1: 166,469,839 (GRCm39) |
H78L |
possibly damaging |
Het |
| Gtf2h3 |
T |
C |
5: 124,733,731 (GRCm39) |
V268A |
probably damaging |
Het |
| Hmbox1 |
T |
C |
14: 65,134,289 (GRCm39) |
S104G |
possibly damaging |
Het |
| Ighv1-36 |
T |
A |
12: 114,843,627 (GRCm39) |
S78C |
probably damaging |
Het |
| Lrriq3 |
G |
A |
3: 154,806,855 (GRCm39) |
W168* |
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,376,250 (GRCm39) |
F3981S |
probably damaging |
Het |
| Pias1 |
T |
C |
9: 62,826,668 (GRCm39) |
T265A |
possibly damaging |
Het |
| Rxfp3 |
C |
A |
15: 11,036,784 (GRCm39) |
R196L |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,483,475 (GRCm39) |
S4121P |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,890,061 (GRCm39) |
E61G |
probably damaging |
Het |
| Sestd1 |
A |
T |
2: 77,017,572 (GRCm39) |
M665K |
probably benign |
Het |
| Slc3a1 |
C |
T |
17: 85,344,640 (GRCm39) |
R269* |
probably null |
Het |
| Smurf1 |
T |
A |
5: 144,820,506 (GRCm39) |
I521F |
probably damaging |
Het |
| Spink5 |
G |
T |
18: 44,122,529 (GRCm39) |
L331F |
probably damaging |
Het |
| Stt3b |
A |
G |
9: 115,083,988 (GRCm39) |
I396T |
probably damaging |
Het |
| Uso1 |
A |
G |
5: 92,337,121 (GRCm39) |
D635G |
probably null |
Het |
| Usp5 |
C |
T |
6: 124,801,948 (GRCm39) |
G102D |
probably damaging |
Het |
| Zfp616 |
A |
G |
11: 73,975,476 (GRCm39) |
R582G |
probably damaging |
Het |
| Zfp654 |
T |
C |
16: 64,612,220 (GRCm39) |
H222R |
probably damaging |
Het |
|
| Other mutations in Or10k2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01621:Or10k2
|
APN |
8 |
84,268,247 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02481:Or10k2
|
APN |
8 |
84,268,015 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02499:Or10k2
|
APN |
8 |
84,267,812 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02832:Or10k2
|
APN |
8 |
84,268,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0315:Or10k2
|
UTSW |
8 |
84,268,001 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0330:Or10k2
|
UTSW |
8 |
84,268,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1737:Or10k2
|
UTSW |
8 |
84,268,045 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1973:Or10k2
|
UTSW |
8 |
84,268,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2157:Or10k2
|
UTSW |
8 |
84,268,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4687:Or10k2
|
UTSW |
8 |
84,268,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5639:Or10k2
|
UTSW |
8 |
84,267,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6150:Or10k2
|
UTSW |
8 |
84,267,782 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6590:Or10k2
|
UTSW |
8 |
84,267,904 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6682:Or10k2
|
UTSW |
8 |
84,268,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6690:Or10k2
|
UTSW |
8 |
84,267,904 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7846:Or10k2
|
UTSW |
8 |
84,268,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7886:Or10k2
|
UTSW |
8 |
84,268,576 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8349:Or10k2
|
UTSW |
8 |
84,268,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8449:Or10k2
|
UTSW |
8 |
84,268,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTACCTAAGGCCCAAGTCC -3'
(R):5'- CCCTAGAACAGAGACAGGTTCATG -3'
Sequencing Primer
(F):5'- CAGCTACTCTTCCAGCCAGG -3'
(R):5'- TGCTGGGATTTAAACTCAGGACC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation