Incidental Mutation 'R1375:Or6c211'
| ID |
157479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6c211
|
| Ensembl Gene |
ENSMUSG00000058513 |
| Gene Name |
olfactory receptor family 6 subfamily C member 211 |
| Synonyms |
Olfr801, GA_x6K02T2PULF-11349138-11348182, MOR110-10 |
| MMRRC Submission |
039439-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R1375 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
129505430-129506386 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 129506241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 12
(L12Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145011
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072063]
[ENSMUST00000203424]
[ENSMUST00000213294]
[ENSMUST00000216067]
|
| AlphaFold |
Q8VEU1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072063
AA Change: L49Q
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000071941
Gene: ENSMUSG00000058513
AA Change: L49Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
1.2e-51 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
8.8e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203321
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203424
AA Change: L12Q
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145011
Gene: ENSMUSG00000058513
AA Change: L12Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
1 |
96 |
5.9e-18 |
PFAM |
|
Pfam:7tm_1
|
2 |
96 |
1.3e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213294
AA Change: L49Q
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216067
AA Change: L49Q
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.8%
- 20x: 89.3%
|
| Validation Efficiency |
100% (33/33) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,243,042 (GRCm39) |
V1268A |
possibly damaging |
Het |
| Ccng1 |
G |
A |
11: 40,642,941 (GRCm39) |
P169S |
probably benign |
Het |
| Cep85l |
A |
T |
10: 53,225,354 (GRCm39) |
D78E |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 16,513,095 (GRCm39) |
|
probably null |
Het |
| Dapk2 |
C |
G |
9: 66,127,925 (GRCm39) |
R68G |
probably damaging |
Het |
| Defb15 |
T |
C |
8: 22,420,071 (GRCm39) |
N19D |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,956,269 (GRCm39) |
G2083D |
probably damaging |
Het |
| Ggn |
T |
C |
7: 28,871,366 (GRCm39) |
S249P |
probably damaging |
Het |
| Gm17541 |
A |
T |
12: 4,739,825 (GRCm39) |
|
probably benign |
Het |
| Gnptab |
T |
A |
10: 88,268,435 (GRCm39) |
L514Q |
probably damaging |
Het |
| Heg1 |
C |
A |
16: 33,547,246 (GRCm39) |
H678N |
possibly damaging |
Het |
| Heg1 |
T |
C |
16: 33,547,679 (GRCm39) |
I846T |
possibly damaging |
Het |
| Hydin |
G |
A |
8: 111,232,854 (GRCm39) |
|
probably null |
Het |
| Il17b |
T |
C |
18: 61,823,325 (GRCm39) |
V53A |
probably benign |
Het |
| Inpp5f |
T |
A |
7: 128,265,753 (GRCm39) |
L166* |
probably null |
Het |
| Mdfic2 |
C |
T |
6: 98,215,260 (GRCm39) |
C121Y |
possibly damaging |
Het |
| Myh9 |
A |
T |
15: 77,653,568 (GRCm39) |
|
probably null |
Het |
| Nsrp1 |
A |
G |
11: 76,941,543 (GRCm39) |
|
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,177,006 (GRCm39) |
|
probably benign |
Het |
| Olr1 |
T |
C |
6: 129,484,039 (GRCm39) |
N11S |
possibly damaging |
Het |
| Or5w1b |
T |
A |
2: 87,476,081 (GRCm39) |
N129Y |
probably damaging |
Het |
| Or6b6 |
A |
G |
7: 106,571,305 (GRCm39) |
L82P |
probably damaging |
Het |
| Or8b46 |
T |
A |
9: 38,450,830 (GRCm39) |
V213D |
possibly damaging |
Het |
| Pipox |
C |
A |
11: 77,772,036 (GRCm39) |
E363* |
probably null |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rpp30 |
T |
C |
19: 36,078,673 (GRCm39) |
|
probably null |
Het |
| Septin1 |
T |
C |
7: 126,817,333 (GRCm39) |
D25G |
probably damaging |
Het |
| Stk17b |
T |
C |
1: 53,805,106 (GRCm39) |
N152D |
possibly damaging |
Het |
| Tasor2 |
A |
G |
13: 3,626,029 (GRCm39) |
V1307A |
probably benign |
Het |
| Thsd7b |
A |
T |
1: 130,087,423 (GRCm39) |
N1180I |
probably damaging |
Het |
|
| Other mutations in Or6c211 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00948:Or6c211
|
APN |
10 |
129,505,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02400:Or6c211
|
APN |
10 |
129,505,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02721:Or6c211
|
APN |
10 |
129,505,992 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03107:Or6c211
|
APN |
10 |
129,505,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0114:Or6c211
|
UTSW |
10 |
129,505,467 (GRCm39) |
missense |
probably benign |
|
|
R0140:Or6c211
|
UTSW |
10 |
129,505,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0652:Or6c211
|
UTSW |
10 |
129,506,248 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1449:Or6c211
|
UTSW |
10 |
129,506,238 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2026:Or6c211
|
UTSW |
10 |
129,506,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2241:Or6c211
|
UTSW |
10 |
129,505,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2516:Or6c211
|
UTSW |
10 |
129,506,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Or6c211
|
UTSW |
10 |
129,505,628 (GRCm39) |
nonsense |
probably null |
|
|
R2869:Or6c211
|
UTSW |
10 |
129,505,628 (GRCm39) |
nonsense |
probably null |
|
|
R2870:Or6c211
|
UTSW |
10 |
129,505,628 (GRCm39) |
nonsense |
probably null |
|
|
R2870:Or6c211
|
UTSW |
10 |
129,505,628 (GRCm39) |
nonsense |
probably null |
|
|
R2873:Or6c211
|
UTSW |
10 |
129,505,628 (GRCm39) |
nonsense |
probably null |
|
|
R6562:Or6c211
|
UTSW |
10 |
129,506,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8362:Or6c211
|
UTSW |
10 |
129,506,100 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8503:Or6c211
|
UTSW |
10 |
129,505,512 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8867:Or6c211
|
UTSW |
10 |
129,505,628 (GRCm39) |
nonsense |
probably null |
|
|
R9251:Or6c211
|
UTSW |
10 |
129,505,980 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Z1177:Or6c211
|
UTSW |
10 |
129,505,663 (GRCm39) |
missense |
probably benign |
0.39 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACAGAAATCCAGTTTGAGTCCCAAC -3'
(R):5'- TGGTCATGCTTAAAATGGACCTTGCT -3'
Sequencing Primer
(F):5'- TGGCTACATATCGGTCATAGGAC -3'
(R):5'- GCTTAAAATGGACCTTGCTATGAG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation