Incidental Mutation 'R5392:Or6c76'
ID |
425915 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or6c76
|
Ensembl Gene |
ENSMUSG00000050251 |
Gene Name |
olfactory receptor family 6 subfamily C member 76 |
Synonyms |
GA_x6K02T2PULF-11454600-11455541, Olfr809, MOR108-4 |
MMRRC Submission |
042964-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R5392 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
129611740-129612726 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 129612184 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 149
(I149V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151711
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059891]
[ENSMUST00000203236]
[ENSMUST00000203598]
[ENSMUST00000204622]
[ENSMUST00000218237]
|
AlphaFold |
Q8VEX8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059891
AA Change: I134V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000054949 Gene: ENSMUSG00000050251 AA Change: I134V
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
44 |
321 |
3.5e-49 |
PFAM |
Pfam:7tm_1
|
54 |
303 |
1.3e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203236
|
SMART Domains |
Protein: ENSMUSP00000145315 Gene: ENSMUSG00000049894
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
29 |
308 |
1.8e-53 |
PFAM |
Pfam:7tm_1
|
39 |
288 |
7.7e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203598
AA Change: I134V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000145037 Gene: ENSMUSG00000050251 AA Change: I134V
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
29 |
148 |
8.1e-20 |
PFAM |
Pfam:7tm_1
|
39 |
149 |
1.8e-17 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204622
AA Change: I149V
|
SMART Domains |
Protein: ENSMUSP00000145260 Gene: ENSMUSG00000052818 AA Change: I149V
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
44 |
321 |
3.5e-49 |
PFAM |
Pfam:7tm_1
|
54 |
303 |
1.3e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218237
AA Change: I149V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acoxl |
T |
C |
2: 127,852,088 (GRCm39) |
|
probably null |
Het |
Acyp1 |
T |
C |
12: 85,325,759 (GRCm39) |
|
probably benign |
Het |
Ces1b |
G |
A |
8: 93,798,590 (GRCm39) |
R199C |
probably damaging |
Het |
Col6a3 |
C |
A |
1: 90,729,017 (GRCm39) |
R1308L |
probably benign |
Het |
Cpa5 |
C |
T |
6: 30,630,829 (GRCm39) |
Q364* |
probably null |
Het |
Cyth4 |
T |
A |
15: 78,491,185 (GRCm39) |
L88Q |
probably damaging |
Het |
Dock7 |
A |
G |
4: 98,896,243 (GRCm39) |
V59A |
probably damaging |
Het |
Drd2 |
A |
G |
9: 49,306,928 (GRCm39) |
N5D |
possibly damaging |
Het |
Epsti1 |
T |
C |
14: 78,224,184 (GRCm39) |
I272T |
probably benign |
Het |
Fndc3b |
A |
T |
3: 27,519,936 (GRCm39) |
C568* |
probably null |
Het |
Frmd4a |
C |
T |
2: 4,599,384 (GRCm39) |
A161V |
probably damaging |
Het |
Gfpt1 |
A |
G |
6: 87,054,139 (GRCm39) |
T465A |
probably damaging |
Het |
Hecw1 |
C |
A |
13: 14,420,347 (GRCm39) |
Q1025H |
probably damaging |
Het |
Irak4 |
A |
T |
15: 94,454,565 (GRCm39) |
M237L |
probably benign |
Het |
Irak4 |
T |
C |
15: 94,454,566 (GRCm39) |
M237T |
probably benign |
Het |
Kdsr |
T |
A |
1: 106,680,971 (GRCm39) |
I76F |
possibly damaging |
Het |
Kif15 |
T |
C |
9: 122,825,360 (GRCm39) |
F533S |
probably damaging |
Het |
Kmt5b |
T |
C |
19: 3,852,127 (GRCm39) |
F103L |
possibly damaging |
Het |
Krtcap2 |
C |
T |
3: 89,154,186 (GRCm39) |
L36F |
probably benign |
Het |
Mroh7 |
A |
G |
4: 106,568,448 (GRCm39) |
|
probably null |
Het |
Mta1 |
T |
C |
12: 113,096,856 (GRCm39) |
V559A |
probably benign |
Het |
N4bp1 |
A |
G |
8: 87,587,048 (GRCm39) |
|
probably null |
Het |
Oas1d |
T |
C |
5: 121,055,003 (GRCm39) |
S192P |
possibly damaging |
Het |
Or1n1b |
T |
A |
2: 36,780,686 (GRCm39) |
Y58F |
probably benign |
Het |
Or6d15 |
A |
G |
6: 116,559,379 (GRCm39) |
F176S |
probably damaging |
Het |
Rabgap1 |
T |
A |
2: 37,359,501 (GRCm39) |
N21K |
probably damaging |
Het |
Rad9b |
A |
T |
5: 122,489,641 (GRCm39) |
C25S |
probably damaging |
Het |
Spg7 |
T |
C |
8: 123,814,102 (GRCm39) |
S454P |
probably damaging |
Het |
Spink2 |
T |
A |
5: 77,354,872 (GRCm39) |
H40L |
probably benign |
Het |
Syne1 |
T |
A |
10: 5,298,661 (GRCm39) |
D1082V |
probably damaging |
Het |
Syt2 |
A |
G |
1: 134,671,759 (GRCm39) |
D179G |
probably damaging |
Het |
Tm7sf2 |
T |
C |
19: 6,113,998 (GRCm39) |
D181G |
probably damaging |
Het |
Vmn1r174 |
A |
G |
7: 23,454,227 (GRCm39) |
I298V |
unknown |
Het |
Vmn2r23 |
A |
T |
6: 123,681,323 (GRCm39) |
H77L |
probably benign |
Het |
Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
Vps9d1 |
T |
C |
8: 123,980,752 (GRCm39) |
E25G |
probably damaging |
Het |
Zfp119a |
T |
C |
17: 56,173,328 (GRCm39) |
R172G |
probably benign |
Het |
Zfp51 |
A |
T |
17: 21,685,584 (GRCm39) |
Y733F |
possibly damaging |
Het |
Zfp658 |
A |
C |
7: 43,222,355 (GRCm39) |
E210A |
probably benign |
Het |
Zp2 |
C |
A |
7: 119,734,987 (GRCm39) |
E433* |
probably null |
Het |
|
Other mutations in Or6c76 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01884:Or6c76
|
APN |
10 |
129,612,697 (GRCm39) |
missense |
probably benign |
0.34 |
IGL02000:Or6c76
|
APN |
10 |
129,611,938 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02146:Or6c76
|
APN |
10 |
129,612,727 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL03087:Or6c76
|
APN |
10 |
129,612,130 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03260:Or6c76
|
APN |
10 |
129,612,521 (GRCm39) |
missense |
probably damaging |
1.00 |
G1Funyon:Or6c76
|
UTSW |
10 |
129,612,709 (GRCm39) |
missense |
probably benign |
0.06 |
PIT4466001:Or6c76
|
UTSW |
10 |
129,612,142 (GRCm39) |
missense |
probably benign |
0.04 |
R0564:Or6c76
|
UTSW |
10 |
129,612,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R0613:Or6c76
|
UTSW |
10 |
129,612,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R1165:Or6c76
|
UTSW |
10 |
129,612,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R1556:Or6c76
|
UTSW |
10 |
129,612,242 (GRCm39) |
missense |
probably benign |
0.05 |
R6665:Or6c76
|
UTSW |
10 |
129,612,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R7519:Or6c76
|
UTSW |
10 |
129,612,091 (GRCm39) |
missense |
probably benign |
0.01 |
R7804:Or6c76
|
UTSW |
10 |
129,612,091 (GRCm39) |
missense |
probably benign |
0.01 |
R8022:Or6c76
|
UTSW |
10 |
129,612,654 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8301:Or6c76
|
UTSW |
10 |
129,612,709 (GRCm39) |
missense |
probably benign |
0.06 |
R8447:Or6c76
|
UTSW |
10 |
129,612,371 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9104:Or6c76
|
UTSW |
10 |
129,612,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R9216:Or6c76
|
UTSW |
10 |
129,611,796 (GRCm39) |
missense |
probably benign |
|
R9679:Or6c76
|
UTSW |
10 |
129,611,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R9720:Or6c76
|
UTSW |
10 |
129,612,581 (GRCm39) |
missense |
probably benign |
0.07 |
Z1176:Or6c76
|
UTSW |
10 |
129,611,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGACACCCATGTATTTCTTCCTCAG -3'
(R):5'- CTCCAAGGTGCTTGTGTCTG -3'
Sequencing Primer
(F):5'- CATTTACTTCTGTCTGTAATCCTAGG -3'
(R):5'- CAAGGTGCTTGTGTCTGTGCAG -3'
|
Posted On |
2016-08-04 |