Incidental Mutation 'R1236:Or6c212'
| ID |
152436 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6c212
|
| Ensembl Gene |
ENSMUSG00000096858 |
| Gene Name |
olfactory receptor family 6 subfamily C member 212 |
| Synonyms |
Olfr805, GA_x6K02T2PULF-11402237-11401278, MOR110-4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R1236 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
129558452-129559411 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129558675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 246
(V246A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078876]
[ENSMUST00000204717]
[ENSMUST00000216794]
[ENSMUST00000217219]
|
| AlphaFold |
Q8VFI4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078876
AA Change: V246A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000092874
Gene: ENSMUSG00000096858
AA Change: V246A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
306 |
3.9e-52 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
5.1e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203573
AA Change: V246A
|
| SMART Domains |
Protein: ENSMUSP00000144843
Gene: ENSMUSG00000096858
AA Change: V246A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
306 |
3.9e-52 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
5.1e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204717
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216794
AA Change: V246A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217219
AA Change: V246A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.8%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
C |
2: 30,685,756 (GRCm39) |
Y360C |
probably damaging |
Het |
| Afap1l2 |
T |
A |
19: 56,904,904 (GRCm39) |
H566L |
possibly damaging |
Het |
| Aqr |
G |
T |
2: 113,947,136 (GRCm39) |
F1015L |
probably damaging |
Het |
| Cep112 |
T |
A |
11: 108,750,200 (GRCm39) |
L901H |
probably damaging |
Het |
| Col26a1 |
A |
G |
5: 136,783,780 (GRCm39) |
V229A |
probably benign |
Het |
| Cyp4a14 |
T |
C |
4: 115,349,367 (GRCm39) |
N231S |
probably benign |
Het |
| Dmac2l |
T |
C |
12: 69,788,592 (GRCm39) |
|
probably null |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gm37240 |
T |
A |
3: 84,435,003 (GRCm39) |
N13I |
probably benign |
Het |
| Kbtbd7 |
G |
T |
14: 79,665,272 (GRCm39) |
C368F |
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,444,020 (GRCm39) |
D418G |
probably benign |
Het |
| Lpcat2 |
A |
G |
8: 93,613,197 (GRCm39) |
M246V |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,319,242 (GRCm39) |
W31R |
probably damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Npepl1 |
T |
A |
2: 173,956,273 (GRCm39) |
|
probably null |
Het |
| Or8b1 |
T |
C |
9: 38,399,525 (GRCm39) |
S67P |
probably damaging |
Het |
| P4ha3 |
T |
C |
7: 99,943,056 (GRCm39) |
L147P |
probably damaging |
Het |
| Pkp2 |
C |
A |
16: 16,043,766 (GRCm39) |
H173Q |
probably benign |
Het |
| Prlr |
C |
A |
15: 10,325,367 (GRCm39) |
T180K |
probably benign |
Het |
| Psph |
A |
G |
5: 129,848,540 (GRCm39) |
M47T |
probably damaging |
Het |
| Rufy2 |
A |
G |
10: 62,830,549 (GRCm39) |
N217S |
probably benign |
Het |
| Sgcg |
T |
C |
14: 61,483,219 (GRCm39) |
M61V |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spint1 |
A |
G |
2: 119,076,054 (GRCm39) |
T217A |
probably benign |
Het |
| Tert |
T |
C |
13: 73,784,498 (GRCm39) |
L648P |
probably damaging |
Het |
| Vwde |
A |
T |
6: 13,187,152 (GRCm39) |
Y778* |
probably null |
Het |
| Zeb2 |
T |
A |
2: 44,884,658 (GRCm39) |
D967V |
probably damaging |
Het |
| Zfp687 |
T |
C |
3: 94,919,355 (GRCm39) |
N139S |
probably benign |
Het |
| Zscan26 |
T |
C |
13: 21,629,940 (GRCm39) |
M188V |
probably benign |
Het |
|
| Other mutations in Or6c212 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01141:Or6c212
|
APN |
10 |
129,558,814 (GRCm39) |
missense |
probably benign |
|
|
IGL01341:Or6c212
|
APN |
10 |
129,558,747 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01960:Or6c212
|
APN |
10 |
129,558,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02729:Or6c212
|
APN |
10 |
129,559,390 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02969:Or6c212
|
APN |
10 |
129,559,065 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0116:Or6c212
|
UTSW |
10 |
129,558,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1332:Or6c212
|
UTSW |
10 |
129,559,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2428:Or6c212
|
UTSW |
10 |
129,558,652 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3725:Or6c212
|
UTSW |
10 |
129,558,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3726:Or6c212
|
UTSW |
10 |
129,558,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3804:Or6c212
|
UTSW |
10 |
129,558,918 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4365:Or6c212
|
UTSW |
10 |
129,559,281 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4630:Or6c212
|
UTSW |
10 |
129,559,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:Or6c212
|
UTSW |
10 |
129,558,792 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4923:Or6c212
|
UTSW |
10 |
129,558,681 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4962:Or6c212
|
UTSW |
10 |
129,558,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5324:Or6c212
|
UTSW |
10 |
129,558,814 (GRCm39) |
missense |
probably benign |
|
|
R5406:Or6c212
|
UTSW |
10 |
129,558,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7705:Or6c212
|
UTSW |
10 |
129,559,018 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8464:Or6c212
|
UTSW |
10 |
129,558,783 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9368:Or6c212
|
UTSW |
10 |
129,558,881 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTGAAAGCATCCTTCACCTGCTG -3'
(R):5'- CAAAGTGTGCCACCTACTTGTCCTC -3'
Sequencing Primer
(F):5'- TTCACCTGCTGGTTCCTTAG -3'
(R):5'- GACTCAAACTGGATTTCTGTGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation