Incidental Mutation 'IGL02881:Or4c121'
| ID |
362792 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or4c121
|
| Ensembl Gene |
ENSMUSG00000075097 |
| Gene Name |
olfactory receptor family 4 subfamily C member 121 |
| Synonyms |
MOR233-2, Olfr1226, GA_x6K02T2Q125-50672630-50671698 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
IGL02881
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
89023444-89024376 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 89023985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 131
(Y131F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099790]
[ENSMUST00000214709]
[ENSMUST00000215562]
[ENSMUST00000215987]
[ENSMUST00000216445]
[ENSMUST00000217601]
[ENSMUST00000220416]
|
| AlphaFold |
Q8VGM5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099790
AA Change: Y131F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097378
Gene: ENSMUSG00000075097
AA Change: Y131F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
302 |
6.5e-47 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
3.4e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214709
AA Change: Y131F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215562
AA Change: Y131F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215987
AA Change: Y131F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216445
AA Change: Y131F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217601
AA Change: Y131F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220416
AA Change: Y131F
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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
C |
A |
8: 13,605,999 (GRCm39) |
|
probably benign |
Het |
| Aatf |
A |
G |
11: 84,362,115 (GRCm39) |
|
probably benign |
Het |
| Asap3 |
A |
T |
4: 135,966,548 (GRCm39) |
H542L |
probably benign |
Het |
| Cyp4v3 |
A |
T |
8: 45,761,753 (GRCm39) |
L389H |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,932,944 (GRCm39) |
E3605K |
probably damaging |
Het |
| Fry |
C |
T |
5: 150,282,516 (GRCm39) |
T347M |
probably damaging |
Het |
| Glul |
C |
A |
1: 153,782,862 (GRCm39) |
T191K |
probably benign |
Het |
| Grsf1 |
A |
T |
5: 88,821,689 (GRCm39) |
L125Q |
probably damaging |
Het |
| Hfm1 |
A |
G |
5: 107,022,118 (GRCm39) |
I976T |
probably damaging |
Het |
| Itgb5 |
A |
G |
16: 33,740,275 (GRCm39) |
T462A |
probably benign |
Het |
| Lmna |
G |
T |
3: 88,410,233 (GRCm39) |
R60S |
possibly damaging |
Het |
| Mrpl10 |
T |
A |
11: 96,937,899 (GRCm39) |
V89D |
probably damaging |
Het |
| Muc5b |
C |
T |
7: 141,411,449 (GRCm39) |
T1465I |
unknown |
Het |
| Myh15 |
A |
C |
16: 48,937,628 (GRCm39) |
D743A |
possibly damaging |
Het |
| Noxo1 |
C |
A |
17: 24,918,409 (GRCm39) |
L190I |
probably damaging |
Het |
| Noxo1 |
T |
A |
17: 24,918,410 (GRCm39) |
L190Q |
probably damaging |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Or2aj5 |
A |
T |
16: 19,425,050 (GRCm39) |
Y123N |
probably damaging |
Het |
| Or5m13 |
A |
G |
2: 85,748,460 (GRCm39) |
S64G |
probably benign |
Het |
| Or8h8 |
A |
G |
2: 86,753,057 (GRCm39) |
V273A |
possibly damaging |
Het |
| Pfkfb4 |
A |
G |
9: 108,836,364 (GRCm39) |
T131A |
probably null |
Het |
| Phf20l1 |
T |
C |
15: 66,466,829 (GRCm39) |
|
probably null |
Het |
| Pnliprp2 |
A |
G |
19: 58,759,878 (GRCm39) |
D363G |
probably benign |
Het |
| Prpf6 |
C |
T |
2: 181,273,864 (GRCm39) |
T336I |
probably benign |
Het |
| Rcc1 |
C |
T |
4: 132,065,067 (GRCm39) |
R139H |
probably benign |
Het |
| Sae1 |
T |
G |
7: 16,093,043 (GRCm39) |
K221N |
probably damaging |
Het |
| Slc45a1 |
T |
C |
4: 150,722,987 (GRCm39) |
K299R |
probably benign |
Het |
| Slco1a8 |
T |
C |
6: 141,917,969 (GRCm39) |
R636G |
probably benign |
Het |
| Smad2 |
C |
A |
18: 76,432,851 (GRCm39) |
|
probably null |
Het |
| Tmem117 |
T |
C |
15: 94,777,306 (GRCm39) |
F152S |
probably damaging |
Het |
| Tmem232 |
C |
T |
17: 65,757,365 (GRCm39) |
C276Y |
probably damaging |
Het |
| Tor1b |
A |
T |
2: 30,843,865 (GRCm39) |
K47* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,740,147 (GRCm39) |
V3464A |
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,550,945 (GRCm39) |
T870A |
possibly damaging |
Het |
| Zscan25 |
T |
G |
5: 145,227,296 (GRCm39) |
L320R |
probably benign |
Het |
|
| Other mutations in Or4c121 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00919:Or4c121
|
APN |
2 |
89,023,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01073:Or4c121
|
APN |
2 |
89,023,481 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01539:Or4c121
|
APN |
2 |
89,023,836 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01549:Or4c121
|
APN |
2 |
89,024,133 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02040:Or4c121
|
APN |
2 |
89,023,907 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02174:Or4c121
|
APN |
2 |
89,023,712 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02322:Or4c121
|
APN |
2 |
89,023,806 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03336:Or4c121
|
APN |
2 |
89,024,241 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1565:Or4c121
|
UTSW |
2 |
89,024,227 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3429:Or4c121
|
UTSW |
2 |
89,023,617 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5668:Or4c121
|
UTSW |
2 |
89,024,170 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6404:Or4c121
|
UTSW |
2 |
89,023,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6418:Or4c121
|
UTSW |
2 |
89,023,823 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7039:Or4c121
|
UTSW |
2 |
89,023,790 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7863:Or4c121
|
UTSW |
2 |
89,024,295 (GRCm39) |
missense |
probably benign |
|
|
R8097:Or4c121
|
UTSW |
2 |
89,023,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8544:Or4c121
|
UTSW |
2 |
89,024,312 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8792:Or4c121
|
UTSW |
2 |
89,024,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9291:Or4c121
|
UTSW |
2 |
89,024,138 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2015-12-18 |
Incidental Mutation