Incidental Mutation 'R5745:Or6c5c'
| ID |
445759 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6c5c
|
| Ensembl Gene |
ENSMUSG00000096497 |
| Gene Name |
olfactory receptor family 6 subfamily C member 5C |
| Synonyms |
MOR111-10, GA_x6K02T2PULF-11141498-11142436, Olfr787 |
| MMRRC Submission |
043198-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R5745 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
129297809-129299485 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 129299307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 254
(I254N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149391
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077836]
[ENSMUST00000213329]
|
| AlphaFold |
Q7TRI1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077836
AA Change: I254N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077005
Gene: ENSMUSG00000096497
AA Change: I254N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
4e-49 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
2.1e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213329
AA Change: I254N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
G |
A |
5: 139,349,828 (GRCm39) |
R74W |
probably damaging |
Het |
| 4933407L21Rik |
T |
G |
1: 85,858,995 (GRCm39) |
|
probably null |
Het |
| Adcy8 |
A |
T |
15: 64,792,320 (GRCm39) |
I212N |
possibly damaging |
Het |
| Cobll1 |
T |
C |
2: 64,928,801 (GRCm39) |
T879A |
probably damaging |
Het |
| Copb2 |
T |
C |
9: 98,456,164 (GRCm39) |
S233P |
probably damaging |
Het |
| Cpa5 |
T |
A |
6: 30,630,436 (GRCm39) |
M330K |
probably damaging |
Het |
| Dgcr8 |
A |
T |
16: 18,098,307 (GRCm39) |
N361K |
probably benign |
Het |
| Dmxl1 |
A |
G |
18: 49,979,653 (GRCm39) |
E96G |
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,107,761 (GRCm39) |
N830K |
probably benign |
Het |
| Ephb1 |
C |
T |
9: 102,072,633 (GRCm39) |
D49N |
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,443,238 (GRCm39) |
I514V |
probably benign |
Het |
| Fpr1 |
A |
G |
17: 18,097,344 (GRCm39) |
I215T |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,491,565 (GRCm39) |
V3668M |
possibly damaging |
Het |
| Ighv3-4 |
T |
A |
12: 114,217,388 (GRCm39) |
I68L |
probably benign |
Het |
| Intu |
A |
G |
3: 40,647,402 (GRCm39) |
|
probably null |
Het |
| Kel |
C |
T |
6: 41,675,961 (GRCm39) |
G243E |
probably damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,393,889 (GRCm39) |
S2781A |
possibly damaging |
Het |
| Myom2 |
T |
A |
8: 15,172,705 (GRCm39) |
S1211T |
probably benign |
Het |
| Nrp1 |
A |
T |
8: 129,194,929 (GRCm39) |
I462F |
probably benign |
Het |
| Or10d3 |
T |
C |
9: 39,461,987 (GRCm39) |
Y60C |
probably damaging |
Het |
| Pcsk1 |
A |
C |
13: 75,280,079 (GRCm39) |
S635R |
probably benign |
Het |
| Pms1 |
A |
T |
1: 53,246,861 (GRCm39) |
Y280* |
probably null |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
| Sema3b |
C |
A |
9: 107,478,628 (GRCm39) |
A356S |
probably damaging |
Het |
| Shoc2 |
C |
A |
19: 54,018,323 (GRCm39) |
T485K |
probably benign |
Het |
| Slc7a7 |
G |
A |
14: 54,615,292 (GRCm39) |
S235L |
possibly damaging |
Het |
| Smcr8 |
A |
T |
11: 60,674,977 (GRCm39) |
T918S |
probably benign |
Het |
| Tafa1 |
G |
A |
6: 96,626,146 (GRCm39) |
R128Q |
probably damaging |
Het |
| Tle3 |
C |
A |
9: 61,322,133 (GRCm39) |
F719L |
probably damaging |
Het |
| Vmn2r45 |
T |
A |
7: 8,486,074 (GRCm39) |
I405L |
probably benign |
Het |
| Vmn2r57 |
A |
T |
7: 41,097,895 (GRCm39) |
H57Q |
possibly damaging |
Het |
|
| Other mutations in Or6c5c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0384:Or6c5c
|
UTSW |
10 |
129,298,909 (GRCm39) |
nonsense |
probably null |
|
|
R1851:Or6c5c
|
UTSW |
10 |
129,299,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2211:Or6c5c
|
UTSW |
10 |
129,298,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3613:Or6c5c
|
UTSW |
10 |
129,298,937 (GRCm39) |
missense |
probably benign |
0.29 |
|
R3701:Or6c5c
|
UTSW |
10 |
129,298,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3702:Or6c5c
|
UTSW |
10 |
129,298,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4496:Or6c5c
|
UTSW |
10 |
129,299,430 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6791:Or6c5c
|
UTSW |
10 |
129,299,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7190:Or6c5c
|
UTSW |
10 |
129,298,626 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7278:Or6c5c
|
UTSW |
10 |
129,298,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7313:Or6c5c
|
UTSW |
10 |
129,298,856 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7369:Or6c5c
|
UTSW |
10 |
129,299,390 (GRCm39) |
missense |
probably benign |
|
|
R7824:Or6c5c
|
UTSW |
10 |
129,298,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7851:Or6c5c
|
UTSW |
10 |
129,299,429 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8961:Or6c5c
|
UTSW |
10 |
129,299,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9635:Or6c5c
|
UTSW |
10 |
129,299,463 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9775:Or6c5c
|
UTSW |
10 |
129,298,677 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCTCCTGCTCAGATACAAGG -3'
(R):5'- CACATGGGAGAGGACAATAAACTTC -3'
Sequencing Primer
(F):5'- CTCCTGCTCAGATACAAGGAGTTTAG -3'
(R):5'- GGGAGAGGACAATAAACTTCATTTTG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation