Incidental Mutation 'IGL02650:Or4c109'
| ID |
302103 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or4c109
|
| Ensembl Gene |
ENSMUSG00000075110 |
| Gene Name |
olfactory receptor family 4 subfamily C member 109 |
| Synonyms |
GA_x6K02T2Q125-50468705-50467770, MOR233-8, Olfr1214 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL02650
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
88817609-88818544 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88818424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 41
(M41L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099804]
[ENSMUST00000216026]
[ENSMUST00000217469]
|
| AlphaFold |
A2ATG3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099804
AA Change: M41L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000097392
Gene: ENSMUSG00000075110
AA Change: M41L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
1.1e-45 |
PFAM |
|
Pfam:7tm_1
|
39 |
286 |
4.1e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216026
AA Change: M41L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217469
AA Change: M41L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,571,881 (GRCm39) |
T586A |
probably benign |
Het |
| Acads |
G |
T |
5: 115,250,874 (GRCm39) |
T141N |
probably benign |
Het |
| Ankmy1 |
C |
T |
1: 92,808,745 (GRCm39) |
R721H |
probably damaging |
Het |
| Appl1 |
A |
G |
14: 26,672,665 (GRCm39) |
V236A |
possibly damaging |
Het |
| Arhgef5 |
C |
T |
6: 43,249,869 (GRCm39) |
Q207* |
probably null |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Atp6v0a2 |
G |
T |
5: 124,789,426 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
T |
C |
1: 189,384,670 (GRCm39) |
K2537E |
possibly damaging |
Het |
| Cox7a1 |
A |
T |
7: 29,884,562 (GRCm39) |
E32V |
possibly damaging |
Het |
| Dis3 |
A |
T |
14: 99,336,221 (GRCm39) |
M95K |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,289,193 (GRCm39) |
|
probably benign |
Het |
| Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
| Dynlt5 |
C |
A |
4: 102,845,803 (GRCm39) |
Q12K |
probably benign |
Het |
| Ghsr |
A |
T |
3: 27,429,004 (GRCm39) |
Q343L |
probably benign |
Het |
| Gm3252 |
T |
A |
14: 4,746,353 (GRCm38) |
V215E |
probably damaging |
Het |
| Gm9979 |
A |
G |
13: 40,859,225 (GRCm39) |
|
noncoding transcript |
Het |
| Grik2 |
A |
T |
10: 48,977,331 (GRCm39) |
M867K |
probably benign |
Het |
| Grm7 |
A |
G |
6: 111,335,919 (GRCm39) |
T777A |
probably damaging |
Het |
| Hc |
T |
A |
2: 34,890,886 (GRCm39) |
Q1310L |
possibly damaging |
Het |
| Ifi44 |
A |
G |
3: 151,451,492 (GRCm39) |
F205L |
probably damaging |
Het |
| Igkv4-86 |
T |
C |
6: 68,887,617 (GRCm39) |
I40V |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,957,505 (GRCm39) |
D69G |
possibly damaging |
Het |
| Lrch1 |
T |
C |
14: 75,051,138 (GRCm39) |
D333G |
probably damaging |
Het |
| Mapre3 |
T |
A |
5: 31,022,053 (GRCm39) |
I187N |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,777,337 (GRCm39) |
|
probably null |
Het |
| Nanos2 |
C |
T |
7: 18,721,794 (GRCm39) |
P89S |
probably damaging |
Het |
| Parp16 |
G |
A |
9: 65,141,098 (GRCm39) |
V223I |
probably damaging |
Het |
| Rnf123 |
A |
G |
9: 107,946,947 (GRCm39) |
M231T |
probably benign |
Het |
| Suco |
C |
A |
1: 161,676,322 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
G |
T |
16: 90,773,584 (GRCm39) |
T459N |
probably benign |
Het |
| Taf4b |
C |
T |
18: 14,975,040 (GRCm39) |
Q732* |
probably null |
Het |
| Tas2r102 |
A |
G |
6: 132,739,173 (GRCm39) |
N27S |
probably null |
Het |
| Tll1 |
C |
T |
8: 64,500,031 (GRCm39) |
|
probably benign |
Het |
| Vmn1r168 |
A |
G |
7: 23,240,916 (GRCm39) |
I258V |
probably benign |
Het |
| Vmn2r71 |
T |
A |
7: 85,273,535 (GRCm39) |
M783K |
probably damaging |
Het |
| Vmn2r98 |
G |
A |
17: 19,301,223 (GRCm39) |
V742I |
probably benign |
Het |
|
| Other mutations in Or4c109 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03409:Or4c109
|
APN |
2 |
88,817,931 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0046:Or4c109
|
UTSW |
2 |
88,817,693 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0046:Or4c109
|
UTSW |
2 |
88,817,693 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0503:Or4c109
|
UTSW |
2 |
88,818,322 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0688:Or4c109
|
UTSW |
2 |
88,817,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1120:Or4c109
|
UTSW |
2 |
88,818,423 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1752:Or4c109
|
UTSW |
2 |
88,817,659 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2018:Or4c109
|
UTSW |
2 |
88,818,489 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2281:Or4c109
|
UTSW |
2 |
88,817,814 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2509:Or4c109
|
UTSW |
2 |
88,817,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2862:Or4c109
|
UTSW |
2 |
88,817,664 (GRCm39) |
missense |
probably benign |
|
|
R3942:Or4c109
|
UTSW |
2 |
88,818,455 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4894:Or4c109
|
UTSW |
2 |
88,817,783 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4899:Or4c109
|
UTSW |
2 |
88,818,454 (GRCm39) |
missense |
probably null |
0.13 |
|
R5089:Or4c109
|
UTSW |
2 |
88,818,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5253:Or4c109
|
UTSW |
2 |
88,818,444 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5338:Or4c109
|
UTSW |
2 |
88,817,809 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6476:Or4c109
|
UTSW |
2 |
88,817,721 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8411:Or4c109
|
UTSW |
2 |
88,818,409 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9209:Or4c109
|
UTSW |
2 |
88,818,057 (GRCm39) |
nonsense |
probably null |
|
|
R9650:Or4c109
|
UTSW |
2 |
88,818,006 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Or4c109
|
UTSW |
2 |
88,818,225 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2015-04-16 |
Incidental Mutation