Incidental Mutation 'IGL00948:Or6c211'
| ID |
28364 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or6c211
|
| Ensembl Gene |
ENSMUSG00000058513 |
| Gene Name |
olfactory receptor family 6 subfamily C member 211 |
| Synonyms |
Olfr801, GA_x6K02T2PULF-11349138-11348182, MOR110-10 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL00948
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
129505430-129506386 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 129505756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 211
(L211I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072063]
[ENSMUST00000203424]
[ENSMUST00000213294]
[ENSMUST00000216067]
|
| AlphaFold |
Q8VEU1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072063
AA Change: L211I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071941
Gene: ENSMUSG00000058513
AA Change: L211I
| 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 benign
Transcript: ENSMUST00000203424
|
| SMART Domains |
Protein: ENSMUSP00000145011
Gene: ENSMUSG00000058513
| 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: L211I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216067
AA Change: L211I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccl2 |
A |
T |
11: 81,926,558 (GRCm39) |
Q24L |
possibly damaging |
Het |
| Cd33 |
G |
A |
7: 43,178,982 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,227,544 (GRCm39) |
I2515V |
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 100,069,082 (GRCm39) |
T101A |
probably benign |
Het |
| Cyp4a12a |
T |
A |
4: 115,159,159 (GRCm39) |
M143K |
probably damaging |
Het |
| Ephb4 |
C |
A |
5: 137,364,921 (GRCm39) |
S663R |
probably damaging |
Het |
| Gm4847 |
T |
C |
1: 166,457,907 (GRCm39) |
D482G |
probably benign |
Het |
| Gskip |
C |
A |
12: 105,665,103 (GRCm39) |
N47K |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,582,159 (GRCm39) |
Y473C |
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,867,194 (GRCm39) |
N849I |
probably damaging |
Het |
| Magel2 |
T |
A |
7: 62,029,070 (GRCm39) |
V658E |
unknown |
Het |
| Nmral1 |
C |
T |
16: 4,534,270 (GRCm39) |
G57E |
probably damaging |
Het |
| Or8b54 |
C |
T |
9: 38,687,108 (GRCm39) |
Q186* |
probably null |
Het |
| Padi3 |
C |
A |
4: 140,516,254 (GRCm39) |
R542L |
possibly damaging |
Het |
| Plrg1 |
T |
C |
3: 82,975,426 (GRCm39) |
V260A |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,240,838 (GRCm39) |
H982R |
probably damaging |
Het |
| Rbm26 |
T |
A |
14: 105,387,779 (GRCm39) |
T448S |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,719,620 (GRCm39) |
M4262I |
possibly damaging |
Het |
| Slc41a3 |
A |
T |
6: 90,622,696 (GRCm39) |
D441V |
probably damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,365,561 (GRCm39) |
E448G |
probably benign |
Het |
| Smtnl2 |
C |
A |
11: 72,302,067 (GRCm39) |
|
probably null |
Het |
| Tox3 |
G |
A |
8: 90,997,062 (GRCm39) |
P66L |
probably damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,382,247 (GRCm39) |
F267L |
probably benign |
Het |
| Vmn2r12 |
A |
G |
5: 109,245,541 (GRCm39) |
S64P |
possibly damaging |
Het |
| Zfp764 |
T |
C |
7: 127,004,376 (GRCm39) |
S252G |
possibly damaging |
Het |
|
| Other mutations in Or6c211 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R1375:Or6c211
|
UTSW |
10 |
129,506,241 (GRCm39) |
missense |
probably null |
0.97 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation