Incidental Mutation 'R1292:Or5k16'
| ID |
150827 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5k16
|
| Ensembl Gene |
ENSMUSG00000090629 |
| Gene Name |
olfactory receptor family 5 subfamily K member 16 |
| Synonyms |
Olfr1563-ps1, Olfr180, MOR184-11P, MOR184-11P, GA_x54KRFPKG5P-55134972-55134019, MOR184-9 |
| MMRRC Submission |
039358-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R1292 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
58736049-58738849 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58736134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 290
(R290K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171656]
[ENSMUST00000205883]
[ENSMUST00000206168]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171656
AA Change: R290K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128358
Gene: ENSMUSG00000090629
AA Change: R290K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
305 |
1.4e-51 |
PFAM |
|
Pfam:7tm_1
|
41 |
313 |
1e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205883
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206168
|
| Meta Mutation Damage Score |
0.3690 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
97% (31/32) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
T |
A |
9: 53,336,919 (GRCm39) |
D74E |
probably benign |
Het |
| Abcb1a |
A |
T |
5: 8,763,343 (GRCm39) |
T624S |
probably benign |
Het |
| Atp8b1 |
T |
C |
18: 64,704,092 (GRCm39) |
Y342C |
probably damaging |
Het |
| Clcnka |
A |
G |
4: 141,122,903 (GRCm39) |
|
probably benign |
Het |
| Cma2 |
C |
T |
14: 56,211,199 (GRCm39) |
R164C |
probably damaging |
Het |
| Cnga1 |
T |
C |
5: 72,762,026 (GRCm39) |
D496G |
probably damaging |
Het |
| Ctbp2 |
T |
A |
7: 132,616,918 (GRCm39) |
R6W |
probably damaging |
Het |
| Cyp3a11 |
T |
C |
5: 145,802,804 (GRCm39) |
T230A |
probably benign |
Het |
| Defb40 |
A |
C |
8: 19,028,080 (GRCm39) |
I18S |
probably benign |
Het |
| Fcgbpl1 |
A |
C |
7: 27,842,219 (GRCm39) |
|
probably benign |
Het |
| Gm10036 |
T |
G |
18: 15,966,368 (GRCm39) |
I173S |
possibly damaging |
Het |
| Herc2 |
A |
T |
7: 55,846,951 (GRCm39) |
I3634L |
probably benign |
Het |
| Igfbp1 |
A |
G |
11: 7,150,863 (GRCm39) |
N218S |
probably damaging |
Het |
| Jag1 |
C |
G |
2: 136,925,393 (GRCm39) |
V1070L |
possibly damaging |
Het |
| Kmt2a |
A |
T |
9: 44,725,991 (GRCm39) |
|
probably benign |
Het |
| Ly9 |
T |
C |
1: 171,416,671 (GRCm39) |
|
probably null |
Het |
| Mmut |
C |
A |
17: 41,252,298 (GRCm39) |
A280E |
probably damaging |
Het |
| Or6k6 |
A |
G |
1: 173,945,420 (GRCm39) |
F54S |
probably benign |
Het |
| Pcdhb13 |
T |
C |
18: 37,576,885 (GRCm39) |
V421A |
probably benign |
Het |
| Pik3ca |
T |
A |
3: 32,508,569 (GRCm39) |
L779Q |
probably damaging |
Het |
| Plxnd1 |
T |
C |
6: 115,939,644 (GRCm39) |
|
probably benign |
Het |
| Prss16 |
T |
A |
13: 22,193,691 (GRCm39) |
K35* |
probably null |
Het |
| Rhbdl2 |
G |
A |
4: 123,723,435 (GRCm39) |
A280T |
possibly damaging |
Het |
| Slc2a2 |
C |
T |
3: 28,771,637 (GRCm39) |
T189I |
probably damaging |
Het |
| Srsf6 |
C |
T |
2: 162,776,403 (GRCm39) |
|
probably benign |
Het |
| Tacr1 |
A |
G |
6: 82,531,856 (GRCm39) |
I251V |
probably damaging |
Het |
| Tln1 |
A |
G |
4: 43,534,578 (GRCm39) |
|
probably null |
Het |
| Vdac3-ps1 |
T |
C |
13: 18,205,880 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp458 |
A |
T |
13: 67,404,754 (GRCm39) |
C562S |
probably damaging |
Het |
|
| Other mutations in Or5k16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Or5k16
|
APN |
16 |
58,736,213 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01759:Or5k16
|
APN |
16 |
58,736,291 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02499:Or5k16
|
APN |
16 |
58,736,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02890:Or5k16
|
APN |
16 |
58,736,737 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1123:Or5k16
|
UTSW |
16 |
58,736,697 (GRCm39) |
nonsense |
probably null |
|
|
R2983:Or5k16
|
UTSW |
16 |
58,736,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3894:Or5k16
|
UTSW |
16 |
58,736,702 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4176:Or5k16
|
UTSW |
16 |
58,736,947 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4666:Or5k16
|
UTSW |
16 |
58,736,947 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5058:Or5k16
|
UTSW |
16 |
58,736,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5375:Or5k16
|
UTSW |
16 |
58,736,248 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5998:Or5k16
|
UTSW |
16 |
58,736,993 (GRCm39) |
missense |
probably benign |
|
|
R6225:Or5k16
|
UTSW |
16 |
58,736,545 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6315:Or5k16
|
UTSW |
16 |
58,736,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6380:Or5k16
|
UTSW |
16 |
58,736,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6866:Or5k16
|
UTSW |
16 |
58,736,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7513:Or5k16
|
UTSW |
16 |
58,736,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7582:Or5k16
|
UTSW |
16 |
58,736,410 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8679:Or5k16
|
UTSW |
16 |
58,736,843 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8798:Or5k16
|
UTSW |
16 |
58,736,307 (GRCm39) |
missense |
probably benign |
|
|
R8809:Or5k16
|
UTSW |
16 |
58,736,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9052:Or5k16
|
UTSW |
16 |
58,736,561 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACCCATTAAGCTGTTTCTTTGTGGGA -3'
(R):5'- TGCCAATTCAAGTCTTCACCATTACCA -3'
Sequencing Primer
(F):5'- AAGCTGTTTCTTTGTGGGATTATAAC -3'
(R):5'- TTTCAAGATGAAATCCAAGGATGG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation