Incidental Mutation 'R1278:Or5k14'
| ID |
150958 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5k14
|
| Ensembl Gene |
ENSMUSG00000063137 |
| Gene Name |
olfactory receptor family 5 subfamily K member 14 |
| Synonyms |
Olfr176, GA_x54KRFPKG5P-55091371-55090442, MOR184-8, GA_x54KRFPKG5P-55043245-55042289, Olfr177, MOR184-7 |
| MMRRC Submission |
039344-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R1278 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
58689766-58693511 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 58693340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 58
(P58T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072853]
[ENSMUST00000217377]
|
| AlphaFold |
E9Q7W1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072853
AA Change: P58T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000072631
Gene: ENSMUSG00000063137
AA Change: P58T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
2.7e-53 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
254 |
8.3e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.2e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205920
AA Change: P58T
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217377
AA Change: P58T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,535,470 (GRCm39) |
S747P |
probably damaging |
Het |
| Adgb |
A |
G |
10: 10,258,572 (GRCm39) |
Y1063H |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,900,660 (GRCm39) |
S320P |
probably damaging |
Het |
| Ccdc171 |
C |
T |
4: 83,580,095 (GRCm39) |
A622V |
possibly damaging |
Het |
| Cul9 |
TTCCTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCCTC |
17: 46,811,775 (GRCm39) |
|
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 50,026,292 (GRCm39) |
V1800A |
probably benign |
Het |
| Dock5 |
T |
C |
14: 68,077,015 (GRCm39) |
N276S |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,159,005 (GRCm39) |
E3389G |
probably damaging |
Het |
| Gnb4 |
T |
C |
3: 32,641,886 (GRCm39) |
D247G |
probably damaging |
Het |
| Kif20a |
C |
T |
18: 34,759,830 (GRCm39) |
T75I |
probably benign |
Het |
| Lcor |
A |
G |
19: 41,573,122 (GRCm39) |
T626A |
probably benign |
Het |
| Lix1 |
A |
G |
17: 17,647,469 (GRCm39) |
K45R |
probably benign |
Het |
| Ly6g6d |
T |
A |
17: 35,290,636 (GRCm39) |
Q98L |
probably benign |
Het |
| Mark4 |
T |
A |
7: 19,165,695 (GRCm39) |
S533C |
probably damaging |
Het |
| Myo1e |
T |
A |
9: 70,306,067 (GRCm39) |
V1104D |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,436,870 (GRCm39) |
D551G |
probably damaging |
Het |
| Pla2g4e |
A |
G |
2: 119,998,951 (GRCm39) |
|
probably null |
Het |
| Ror1 |
T |
C |
4: 100,299,075 (GRCm39) |
F816S |
possibly damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Secisbp2 |
G |
T |
13: 51,808,546 (GRCm39) |
V104F |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,988,947 (GRCm39) |
|
probably null |
Het |
| Trpm7 |
A |
T |
2: 126,667,374 (GRCm39) |
Y846* |
probably null |
Het |
|
| Other mutations in Or5k14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02084:Or5k14
|
APN |
16 |
58,693,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02223:Or5k14
|
APN |
16 |
58,693,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Or5k14
|
UTSW |
16 |
58,693,269 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0131:Or5k14
|
UTSW |
16 |
58,693,269 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0132:Or5k14
|
UTSW |
16 |
58,693,269 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0245:Or5k14
|
UTSW |
16 |
58,693,229 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0717:Or5k14
|
UTSW |
16 |
58,693,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0975:Or5k14
|
UTSW |
16 |
58,693,513 (GRCm39) |
splice site |
probably null |
|
|
R1037:Or5k14
|
UTSW |
16 |
58,693,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1256:Or5k14
|
UTSW |
16 |
58,693,206 (GRCm39) |
nonsense |
probably null |
|
|
R1538:Or5k14
|
UTSW |
16 |
58,693,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Or5k14
|
UTSW |
16 |
58,692,874 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2173:Or5k14
|
UTSW |
16 |
58,692,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2392:Or5k14
|
UTSW |
16 |
58,692,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5651:Or5k14
|
UTSW |
16 |
58,692,847 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5652:Or5k14
|
UTSW |
16 |
58,692,847 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5653:Or5k14
|
UTSW |
16 |
58,692,847 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8031:Or5k14
|
UTSW |
16 |
58,693,054 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8108:Or5k14
|
UTSW |
16 |
58,692,599 (GRCm39) |
missense |
probably benign |
|
|
R8531:Or5k14
|
UTSW |
16 |
58,693,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8833:Or5k14
|
UTSW |
16 |
58,692,959 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9150:Or5k14
|
UTSW |
16 |
58,693,005 (GRCm39) |
nonsense |
probably null |
|
|
R9318:Or5k14
|
UTSW |
16 |
58,692,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9389:Or5k14
|
UTSW |
16 |
58,692,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V8831:Or5k14
|
UTSW |
16 |
58,693,438 (GRCm39) |
missense |
probably benign |
0.28 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGGTTGCATATAGCCACATAGCG -3'
(R):5'- CCCTTGTCAACAGAGGAGCTGAAG -3'
Sequencing Primer
(F):5'- TATAGCCACATAGCGGTCATAG -3'
(R):5'- CTGAAGATGACTGAGGACAACTACTC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation