Incidental Mutation 'IGL00897:Or6c219'
| ID |
28292 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or6c219
|
| Ensembl Gene |
ENSMUSG00000058071 |
| Gene Name |
olfactory receptor family 6 subfamily C member 219 |
| Synonyms |
Olfr818, GA_x6K02T2PULF-11624146-11623190, MOR110-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL00897
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
129780973-129781929 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 129781780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 50
(D50E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074308]
[ENSMUST00000205227]
[ENSMUST00000215527]
|
| AlphaFold |
Q8VG46 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074308
AA Change: D50E
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000073918
Gene: ENSMUSG00000058071
AA Change: D50E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
1.4e-47 |
PFAM |
|
Pfam:7tm_1
|
39 |
287 |
3.5e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205227
|
| SMART Domains |
Protein: ENSMUSP00000145108
Gene: ENSMUSG00000058071
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
1 |
122 |
5e-13 |
PFAM |
|
Pfam:7tm_4
|
1 |
123 |
8.7e-24 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215527
AA Change: D50E
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.1795 |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,815,348 (GRCm39) |
|
probably benign |
Het |
| Arsi |
A |
G |
18: 61,045,502 (GRCm39) |
Y64C |
probably damaging |
Het |
| Ascc3 |
A |
T |
10: 50,604,187 (GRCm39) |
E1302D |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,405,145 (GRCm39) |
I1344T |
probably damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,850,882 (GRCm39) |
I924T |
possibly damaging |
Het |
| Ccnb1 |
A |
G |
13: 100,922,419 (GRCm39) |
|
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,254,723 (GRCm39) |
D1304G |
probably benign |
Het |
| Ctsq |
C |
A |
13: 61,185,539 (GRCm39) |
V201F |
probably damaging |
Het |
| Efcab3 |
G |
A |
11: 104,990,847 (GRCm39) |
D293N |
probably damaging |
Het |
| Epb41 |
T |
A |
4: 131,727,508 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
C |
11: 55,180,078 (GRCm39) |
E1421G |
probably damaging |
Het |
| Flt1 |
T |
A |
5: 147,526,664 (GRCm39) |
Y873F |
probably benign |
Het |
| Fos |
C |
T |
12: 85,523,120 (GRCm39) |
T344I |
probably damaging |
Het |
| Gsdme |
A |
G |
6: 50,206,264 (GRCm39) |
|
probably null |
Het |
| Inpp5d |
A |
G |
1: 87,639,836 (GRCm39) |
T846A |
probably benign |
Het |
| Insyn2b |
T |
C |
11: 34,353,011 (GRCm39) |
V351A |
probably benign |
Het |
| Kdm4c |
T |
C |
4: 74,291,921 (GRCm39) |
M846T |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,352,225 (GRCm39) |
F604L |
possibly damaging |
Het |
| Mab21l3 |
C |
A |
3: 101,730,771 (GRCm39) |
R156L |
probably damaging |
Het |
| Mrps9 |
A |
G |
1: 42,944,619 (GRCm39) |
E379G |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,365,518 (GRCm39) |
L119P |
probably damaging |
Het |
| Neurod2 |
C |
T |
11: 98,218,595 (GRCm39) |
V190M |
probably damaging |
Het |
| Nprl2 |
T |
G |
9: 107,422,727 (GRCm39) |
N371K |
probably benign |
Het |
| Nr1d2 |
A |
T |
14: 18,214,993 (GRCm38) |
C340S |
probably benign |
Het |
| Nsg1 |
A |
T |
5: 38,302,060 (GRCm39) |
V117D |
probably damaging |
Het |
| Or7e168 |
T |
G |
9: 19,719,917 (GRCm39) |
V101G |
probably damaging |
Het |
| Paqr4 |
T |
C |
17: 23,956,544 (GRCm39) |
D273G |
possibly damaging |
Het |
| Plcb4 |
A |
G |
2: 135,813,718 (GRCm39) |
T686A |
probably benign |
Het |
| Ppp1r8 |
G |
A |
4: 132,555,213 (GRCm39) |
A335V |
probably damaging |
Het |
| Slc4a2 |
T |
A |
5: 24,634,557 (GRCm39) |
Y65* |
probably null |
Het |
| Slco3a1 |
A |
T |
7: 74,153,931 (GRCm39) |
Y214N |
probably damaging |
Het |
| Tmem232 |
T |
C |
17: 65,563,569 (GRCm39) |
E608G |
possibly damaging |
Het |
| Vmn1r169 |
A |
T |
7: 23,277,019 (GRCm39) |
Y137F |
probably damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,921 (GRCm39) |
I725T |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,286,007 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or6c219 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00951:Or6c219
|
APN |
10 |
129,781,581 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01700:Or6c219
|
APN |
10 |
129,781,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02313:Or6c219
|
APN |
10 |
129,781,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02373:Or6c219
|
APN |
10 |
129,781,334 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02983:Or6c219
|
APN |
10 |
129,781,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0730:Or6c219
|
UTSW |
10 |
129,780,980 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1574:Or6c219
|
UTSW |
10 |
129,781,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Or6c219
|
UTSW |
10 |
129,781,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1789:Or6c219
|
UTSW |
10 |
129,781,451 (GRCm39) |
nonsense |
probably null |
|
|
R1824:Or6c219
|
UTSW |
10 |
129,781,206 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2107:Or6c219
|
UTSW |
10 |
129,781,581 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2398:Or6c219
|
UTSW |
10 |
129,781,076 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5799:Or6c219
|
UTSW |
10 |
129,781,780 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6048:Or6c219
|
UTSW |
10 |
129,781,695 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7027:Or6c219
|
UTSW |
10 |
129,781,041 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7222:Or6c219
|
UTSW |
10 |
129,781,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7406:Or6c219
|
UTSW |
10 |
129,781,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8483:Or6c219
|
UTSW |
10 |
129,780,998 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9306:Or6c219
|
UTSW |
10 |
129,781,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9752:Or6c219
|
UTSW |
10 |
129,780,990 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2013-04-17 |
Incidental Mutation