Incidental Mutation 'R0579:Or6c1'
ID |
56361 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or6c1
|
Ensembl Gene |
ENSMUSG00000093866 |
Gene Name |
olfactory receptor family 6 subfamily C member 1 |
Synonyms |
MOR111-1, Olfr802, GA_x6K02T2PULF-11361362-11360424 |
MMRRC Submission |
038769-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0579 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
129517668-129518606 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 129518106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 167
(C167*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150123
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074713]
[ENSMUST00000203785]
[ENSMUST00000217576]
|
AlphaFold |
Q8VGJ2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000074713
AA Change: C167*
|
SMART Domains |
Protein: ENSMUSP00000074275 Gene: ENSMUSG00000093866 AA Change: C167*
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
28 |
305 |
6.8e-56 |
PFAM |
Pfam:7tm_1
|
39 |
288 |
2.5e-21 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000203785
AA Change: C167*
|
SMART Domains |
Protein: ENSMUSP00000144741 Gene: ENSMUSG00000093866 AA Change: C167*
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
28 |
305 |
6.8e-56 |
PFAM |
Pfam:7tm_1
|
39 |
288 |
2.5e-21 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000217576
AA Change: C167*
|
Meta Mutation Damage Score |
0.9716 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.7%
|
Validation Efficiency |
89% (34/38) |
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 |
4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
Abcf3 |
G |
A |
16: 20,369,398 (GRCm39) |
R260Q |
probably benign |
Het |
Abcg3 |
A |
G |
5: 105,121,969 (GRCm39) |
V136A |
probably damaging |
Het |
Acr |
C |
G |
15: 89,453,678 (GRCm39) |
H72Q |
probably damaging |
Het |
Ambra1 |
A |
G |
2: 91,654,810 (GRCm39) |
N783S |
possibly damaging |
Het |
Cd300ld2 |
A |
G |
11: 114,903,125 (GRCm39) |
F240S |
probably benign |
Het |
Cep83 |
A |
G |
10: 94,584,915 (GRCm39) |
D340G |
possibly damaging |
Het |
Crybg2 |
T |
A |
4: 133,800,049 (GRCm39) |
I403N |
probably damaging |
Het |
Dnah14 |
T |
A |
1: 181,572,312 (GRCm39) |
M2881K |
possibly damaging |
Het |
Erbb4 |
T |
C |
1: 68,081,621 (GRCm39) |
M1138V |
probably benign |
Het |
Evi5 |
A |
G |
5: 107,969,575 (GRCm39) |
V112A |
probably benign |
Het |
F2r |
A |
G |
13: 95,754,857 (GRCm39) |
V9A |
probably benign |
Het |
Flot1 |
C |
A |
17: 36,141,900 (GRCm39) |
S337R |
probably benign |
Het |
Glt28d2 |
G |
A |
3: 85,779,440 (GRCm39) |
T11I |
probably damaging |
Het |
Gm19345 |
A |
G |
7: 19,588,901 (GRCm39) |
|
probably benign |
Het |
Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
Hmgcs2 |
A |
T |
3: 98,198,264 (GRCm39) |
I56F |
probably damaging |
Het |
Ifna9 |
T |
A |
4: 88,510,508 (GRCm39) |
T39S |
possibly damaging |
Het |
Il21 |
T |
G |
3: 37,281,923 (GRCm39) |
K74Q |
possibly damaging |
Het |
Itpripl1 |
G |
T |
2: 126,983,011 (GRCm39) |
Y370* |
probably null |
Het |
Kif24 |
G |
A |
4: 41,393,706 (GRCm39) |
P1056S |
probably damaging |
Het |
L2hgdh |
A |
T |
12: 69,748,046 (GRCm39) |
|
probably benign |
Het |
Lipo2 |
A |
T |
19: 33,724,298 (GRCm39) |
L156Q |
probably damaging |
Het |
Nlrp4c |
T |
A |
7: 6,063,844 (GRCm39) |
M84K |
probably benign |
Het |
Npy4r |
G |
A |
14: 33,868,640 (GRCm39) |
T216I |
probably benign |
Het |
Or12d17 |
T |
C |
17: 37,777,238 (GRCm39) |
V47A |
probably benign |
Het |
Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
Pafah1b2 |
T |
C |
9: 45,880,011 (GRCm39) |
E222G |
probably benign |
Het |
Pop1 |
T |
A |
15: 34,510,115 (GRCm39) |
D406E |
possibly damaging |
Het |
Proser1 |
A |
G |
3: 53,374,572 (GRCm39) |
Y32C |
probably damaging |
Het |
Ptprj |
C |
A |
2: 90,266,913 (GRCm39) |
|
probably null |
Het |
Slc1a3 |
T |
A |
15: 8,717,793 (GRCm39) |
I100F |
probably damaging |
Het |
Slc25a22 |
T |
C |
7: 141,011,272 (GRCm39) |
D176G |
probably damaging |
Het |
Stard7 |
T |
C |
2: 127,126,473 (GRCm39) |
V99A |
probably damaging |
Het |
Stk33 |
C |
T |
7: 108,924,904 (GRCm39) |
V184I |
probably damaging |
Het |
Timmdc1 |
A |
G |
16: 38,342,745 (GRCm39) |
L51P |
probably benign |
Het |
Tppp |
T |
C |
13: 74,169,352 (GRCm39) |
S31P |
probably benign |
Het |
Upf2 |
A |
T |
2: 5,993,240 (GRCm39) |
R599W |
unknown |
Het |
Vav1 |
G |
T |
17: 57,586,271 (GRCm39) |
W25L |
probably benign |
Het |
|
Other mutations in Or6c1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02939:Or6c1
|
APN |
10 |
129,517,857 (GRCm39) |
nonsense |
probably null |
|
IGL03112:Or6c1
|
APN |
10 |
129,517,792 (GRCm39) |
missense |
probably benign |
0.08 |
R0366:Or6c1
|
UTSW |
10 |
129,517,840 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0463:Or6c1
|
UTSW |
10 |
129,517,708 (GRCm39) |
missense |
probably benign |
0.11 |
R1769:Or6c1
|
UTSW |
10 |
129,518,081 (GRCm39) |
missense |
probably benign |
0.15 |
R2128:Or6c1
|
UTSW |
10 |
129,518,401 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2375:Or6c1
|
UTSW |
10 |
129,518,032 (GRCm39) |
missense |
probably benign |
0.04 |
R3888:Or6c1
|
UTSW |
10 |
129,518,088 (GRCm39) |
missense |
probably benign |
0.43 |
R3888:Or6c1
|
UTSW |
10 |
129,518,087 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4956:Or6c1
|
UTSW |
10 |
129,517,968 (GRCm39) |
missense |
probably benign |
0.00 |
R5471:Or6c1
|
UTSW |
10 |
129,517,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R5588:Or6c1
|
UTSW |
10 |
129,517,705 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7305:Or6c1
|
UTSW |
10 |
129,518,149 (GRCm39) |
missense |
probably damaging |
0.99 |
R7969:Or6c1
|
UTSW |
10 |
129,517,699 (GRCm39) |
missense |
probably benign |
|
R7995:Or6c1
|
UTSW |
10 |
129,518,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R9142:Or6c1
|
UTSW |
10 |
129,518,285 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCTTGCTTGACTTGCTGATTCC -3'
(R):5'- TCTAGCTGCCATGTCCTATGACCG -3'
Sequencing Primer
(F):5'- TTGACCTCTGACTGGCAGAAG -3'
(R):5'- CGTTATGTTGCCATCTGCAAG -3'
|
Posted On |
2013-07-11 |