Incidental Mutation 'R9538:Or6c70'
| ID |
719776 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6c70
|
| Ensembl Gene |
ENSMUSG00000059134 |
| Gene Name |
olfactory receptor family 6 subfamily C member 70 |
| Synonyms |
MOR113-8, MOR113-5, Olfr814, GA_x6K02T2PULF-11553313-11552381 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R9538 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
129709692-129710624 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 129709762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 288
(Y288S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081367]
[ENSMUST00000213742]
[ENSMUST00000216966]
|
| AlphaFold |
Q7TRH4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081367
AA Change: Y288S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080106
Gene: ENSMUSG00000059134
AA Change: Y288S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
5.2e-47 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
1.5e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213742
AA Change: Y288S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216966
AA Change: Y288S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,380,672 (GRCm39) |
L312P |
probably benign |
Het |
| Ankrd31 |
A |
G |
13: 97,009,193 (GRCm39) |
N1262D |
probably benign |
Het |
| Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
| Ccnjl |
A |
G |
11: 43,470,564 (GRCm39) |
T111A |
probably benign |
Het |
| Cmtr1 |
T |
C |
17: 29,882,282 (GRCm39) |
|
probably null |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Diaph1 |
T |
C |
18: 37,986,470 (GRCm39) |
K1137E |
probably damaging |
Het |
| Dpysl4 |
C |
A |
7: 138,670,230 (GRCm39) |
A116E |
probably damaging |
Het |
| E2f7 |
A |
G |
10: 110,616,628 (GRCm39) |
K623E |
possibly damaging |
Het |
| Glb1l |
G |
T |
1: 75,178,096 (GRCm39) |
P358T |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,882,014 (GRCm39) |
R260G |
probably damaging |
Het |
| Ighv14-2 |
A |
C |
12: 113,958,205 (GRCm39) |
Y79D |
probably damaging |
Het |
| Nfatc3 |
A |
G |
8: 106,834,784 (GRCm39) |
D710G |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 124,424,007 (GRCm38) |
T50A |
unknown |
Het |
| Psg18 |
A |
T |
7: 18,084,713 (GRCm39) |
Y249N |
probably benign |
Het |
| Smarcc1 |
T |
C |
9: 109,961,272 (GRCm39) |
Y30H |
probably benign |
Het |
| Strn |
G |
T |
17: 78,972,219 (GRCm39) |
A443E |
possibly damaging |
Het |
| Tmem119 |
A |
G |
5: 113,933,702 (GRCm39) |
V33A |
possibly damaging |
Het |
| Vmn1r210 |
T |
A |
13: 23,011,837 (GRCm39) |
K150* |
probably null |
Het |
| Vmn1r212 |
A |
G |
13: 23,067,451 (GRCm39) |
F294S |
probably benign |
Het |
| Vmn2r67 |
C |
A |
7: 84,801,327 (GRCm39) |
W203L |
|
Het |
| Zfc3h1 |
A |
G |
10: 115,221,197 (GRCm39) |
D32G |
unknown |
Het |
| Zfp931 |
T |
C |
2: 177,709,605 (GRCm39) |
I260M |
probably benign |
Het |
|
| Other mutations in Or6c70 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01831:Or6c70
|
APN |
10 |
129,709,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02045:Or6c70
|
APN |
10 |
129,710,091 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02301:Or6c70
|
APN |
10 |
129,709,948 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0277:Or6c70
|
UTSW |
10 |
129,709,936 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0281:Or6c70
|
UTSW |
10 |
129,710,415 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0323:Or6c70
|
UTSW |
10 |
129,709,936 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0394:Or6c70
|
UTSW |
10 |
129,709,811 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0546:Or6c70
|
UTSW |
10 |
129,710,407 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3813:Or6c70
|
UTSW |
10 |
129,709,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4086:Or6c70
|
UTSW |
10 |
129,710,167 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4415:Or6c70
|
UTSW |
10 |
129,709,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4416:Or6c70
|
UTSW |
10 |
129,709,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4453:Or6c70
|
UTSW |
10 |
129,710,530 (GRCm39) |
missense |
probably null |
0.30 |
|
R5194:Or6c70
|
UTSW |
10 |
129,709,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5306:Or6c70
|
UTSW |
10 |
129,709,810 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5362:Or6c70
|
UTSW |
10 |
129,710,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5609:Or6c70
|
UTSW |
10 |
129,710,607 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5987:Or6c70
|
UTSW |
10 |
129,710,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6240:Or6c70
|
UTSW |
10 |
129,710,546 (GRCm39) |
missense |
probably benign |
|
|
R6896:Or6c70
|
UTSW |
10 |
129,710,623 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R7432:Or6c70
|
UTSW |
10 |
129,709,719 (GRCm39) |
missense |
probably benign |
|
|
R7489:Or6c70
|
UTSW |
10 |
129,710,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7652:Or6c70
|
UTSW |
10 |
129,710,346 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8316:Or6c70
|
UTSW |
10 |
129,709,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Or6c70
|
UTSW |
10 |
129,710,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8727:Or6c70
|
UTSW |
10 |
129,710,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9089:Or6c70
|
UTSW |
10 |
129,710,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTCCTGGAGTACTTTTAGCCTG -3'
(R):5'- TCCCTTCTGCTCAGCAAAAG -3'
Sequencing Primer
(F):5'- GGAGTACTTTTAGCCTGTTTAATACC -3'
(R):5'- GAAAAAGGCCTTTTCCACTTGTTC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation