Incidental Mutation 'R0688:Or6k14'
| ID |
61208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6k14
|
| Ensembl Gene |
ENSMUSG00000059371 |
| Gene Name |
olfactory receptor family 6 subfamily K member 14 |
| Synonyms |
Olfr427, MOR105-9, MOR105-7, Olfr426, MOR105-13_p, GA_x6K02T2P20D-21075927-21074980, GA_x6K02T2P20D-21063569-21062619, MOR105-8 |
| MMRRC Submission |
038873-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R0688 (G1)
|
| Quality Score |
97 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
173927026-173927974 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 173927630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 202
(H202P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149570
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080831]
[ENSMUST00000213832]
|
| AlphaFold |
E9Q7E7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080831
AA Change: H202P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079644
Gene: ENSMUSG00000059371
AA Change: H202P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1.2e-58 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
3.7e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201135
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213832
AA Change: H202P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.1%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
T |
G |
9: 104,001,299 (GRCm39) |
V615G |
probably damaging |
Het |
| Apaf1 |
T |
G |
10: 90,897,567 (GRCm39) |
E305D |
possibly damaging |
Het |
| Apol10b |
A |
G |
15: 77,469,419 (GRCm39) |
S253P |
probably damaging |
Het |
| Bbs9 |
T |
A |
9: 22,479,015 (GRCm39) |
C153S |
probably damaging |
Het |
| Bicra |
C |
T |
7: 15,723,247 (GRCm39) |
G90D |
probably damaging |
Het |
| Clca4a |
A |
C |
3: 144,667,735 (GRCm39) |
L412R |
probably damaging |
Het |
| Cul3 |
A |
T |
1: 80,249,281 (GRCm39) |
D597E |
possibly damaging |
Het |
| Cxcr5 |
A |
G |
9: 44,424,964 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
T |
C |
5: 124,824,782 (GRCm39) |
I646T |
possibly damaging |
Het |
| Focad |
T |
A |
4: 88,192,450 (GRCm39) |
V593D |
unknown |
Het |
| Fsip2 |
T |
A |
2: 82,812,683 (GRCm39) |
S3001T |
probably benign |
Het |
| Ganab |
T |
A |
19: 8,888,477 (GRCm39) |
Y511N |
probably damaging |
Het |
| Gdf9 |
T |
A |
11: 53,327,467 (GRCm39) |
L141Q |
probably damaging |
Het |
| Gpr180 |
A |
G |
14: 118,385,596 (GRCm39) |
D136G |
probably benign |
Het |
| Hsd3b9 |
T |
C |
3: 98,363,710 (GRCm39) |
E45G |
probably benign |
Het |
| Itga2 |
G |
T |
13: 114,976,090 (GRCm39) |
A1094E |
probably benign |
Het |
| Ly75 |
C |
T |
2: 60,146,565 (GRCm39) |
A1238T |
probably benign |
Het |
| Macc1 |
T |
C |
12: 119,410,738 (GRCm39) |
V502A |
probably damaging |
Het |
| Mroh4 |
T |
C |
15: 74,478,527 (GRCm39) |
K923E |
probably damaging |
Het |
| Msh3 |
G |
A |
13: 92,487,939 (GRCm39) |
P93S |
possibly damaging |
Het |
| Myo18a |
A |
G |
11: 77,714,966 (GRCm39) |
D474G |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,481,522 (GRCm39) |
Y1077N |
probably benign |
Het |
| Or4c109 |
A |
T |
2: 88,817,939 (GRCm39) |
S202R |
probably damaging |
Het |
| Or6c69 |
T |
G |
10: 129,747,752 (GRCm39) |
T132P |
probably damaging |
Het |
| Or8u8 |
A |
T |
2: 86,011,949 (GRCm39) |
|
probably null |
Het |
| Paqr5 |
T |
G |
9: 61,880,076 (GRCm39) |
T59P |
probably benign |
Het |
| Phyhipl |
C |
T |
10: 70,395,085 (GRCm39) |
G329R |
probably damaging |
Het |
| Pomgnt1 |
T |
C |
4: 116,013,086 (GRCm39) |
Y430H |
probably damaging |
Het |
| Pramel21 |
T |
C |
4: 143,343,927 (GRCm39) |
F409S |
probably benign |
Het |
| Prkd3 |
A |
T |
17: 79,264,662 (GRCm39) |
M651K |
probably damaging |
Het |
| Puf60 |
A |
T |
15: 75,942,623 (GRCm39) |
M440K |
probably damaging |
Het |
| Recql4 |
A |
G |
15: 76,594,009 (GRCm39) |
|
probably null |
Het |
| Sgk1 |
A |
C |
10: 21,874,059 (GRCm39) |
M320L |
probably benign |
Het |
| Slc27a4 |
T |
C |
2: 29,702,627 (GRCm39) |
F509S |
probably damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,351,706 (GRCm39) |
T235A |
probably damaging |
Het |
| Srrm3 |
A |
G |
5: 135,898,130 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
C |
T |
8: 34,063,528 (GRCm39) |
T986I |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Zswim4 |
T |
C |
8: 84,955,517 (GRCm39) |
M301V |
possibly damaging |
Het |
|
| Other mutations in Or6k14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00938:Or6k14
|
APN |
1 |
173,927,933 (GRCm39) |
missense |
probably benign |
|
|
IGL01804:Or6k14
|
APN |
1 |
173,927,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02573:Or6k14
|
APN |
1 |
173,927,696 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02736:Or6k14
|
APN |
1 |
173,927,213 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0012:Or6k14
|
UTSW |
1 |
173,927,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0437:Or6k14
|
UTSW |
1 |
173,927,965 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1473:Or6k14
|
UTSW |
1 |
173,927,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1754:Or6k14
|
UTSW |
1 |
173,927,599 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5453:Or6k14
|
UTSW |
1 |
173,927,033 (GRCm39) |
missense |
probably benign |
|
|
R5776:Or6k14
|
UTSW |
1 |
173,927,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6700:Or6k14
|
UTSW |
1 |
173,927,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7472:Or6k14
|
UTSW |
1 |
173,927,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7683:Or6k14
|
UTSW |
1 |
173,927,042 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8132:Or6k14
|
UTSW |
1 |
173,927,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8853:Or6k14
|
UTSW |
1 |
173,927,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9523:Or6k14
|
UTSW |
1 |
173,927,608 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCTGCACACAGCTTTCCAC -3'
(R):5'- TCAGCTCCCAGAGACAGTGAGTATC -3'
Sequencing Primer
(F):5'- ACAGCTTTCCACAGGCTC -3'
(R):5'- GCAATGACCTTCTCCAATAGTGG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation