Incidental Mutation 'IGL01560:Or4c118'
| ID |
90810 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or4c118
|
| Ensembl Gene |
ENSMUSG00000075100 |
| Gene Name |
olfactory receptor family 4 subfamily C member 118 |
| Synonyms |
MOR233-10, Olfr1223, GA_x6K02T2Q125-50623664-50622729 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
IGL01560
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
88974430-88981680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 88974947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 140
(C140Y)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099793]
[ENSMUST00000217342]
|
| AlphaFold |
A0A1L1SU13 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099793
AA Change: C140Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097381
Gene: ENSMUSG00000075099
AA Change: C140Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
39 |
286 |
2e-26 |
PFAM |
|
Pfam:7tm_4
|
138 |
283 |
5.6e-37 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111554
AA Change: C140Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107179
Gene: ENSMUSG00000075100
AA Change: C140Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
3.1e-48 |
PFAM |
|
Pfam:7tm_1
|
39 |
286 |
1.6e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217342
AA Change: C140Y
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap28 |
A |
T |
17: 68,203,066 (GRCm39) |
I129N |
probably damaging |
Het |
| Arsb |
A |
G |
13: 93,944,106 (GRCm39) |
I266V |
probably benign |
Het |
| Atp6v1b1 |
A |
G |
6: 83,726,897 (GRCm39) |
|
probably benign |
Het |
| Cacna1d |
C |
T |
14: 29,821,163 (GRCm39) |
V1118I |
probably benign |
Het |
| Cadps |
A |
T |
14: 12,491,792 (GRCm38) |
V791D |
probably damaging |
Het |
| Cdh2 |
T |
C |
18: 16,783,495 (GRCm39) |
D78G |
probably benign |
Het |
| Fem1al |
A |
T |
11: 29,774,643 (GRCm39) |
Y271* |
probably null |
Het |
| Flnb |
T |
G |
14: 7,893,829 (GRCm38) |
I714S |
probably benign |
Het |
| Fzd1 |
A |
G |
5: 4,806,037 (GRCm39) |
M515T |
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,015,547 (GRCm39) |
F1288Y |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,659,191 (GRCm39) |
I1868V |
probably benign |
Het |
| Mmel1 |
A |
G |
4: 154,976,967 (GRCm39) |
D561G |
probably null |
Het |
| Mypn |
A |
T |
10: 62,970,743 (GRCm39) |
V887E |
probably benign |
Het |
| Or6p1 |
A |
T |
1: 174,258,467 (GRCm39) |
M158L |
probably benign |
Het |
| Or7g28 |
T |
C |
9: 19,271,842 (GRCm39) |
T270A |
probably benign |
Het |
| Osbpl5 |
C |
A |
7: 143,269,430 (GRCm39) |
E49* |
probably null |
Het |
| Prpf8 |
A |
G |
11: 75,381,232 (GRCm39) |
Q189R |
possibly damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Six6 |
T |
A |
12: 72,986,831 (GRCm39) |
M1K |
probably null |
Het |
| Slc13a4 |
A |
G |
6: 35,248,538 (GRCm39) |
|
probably benign |
Het |
| Slc17a1 |
T |
A |
13: 24,058,612 (GRCm39) |
I22N |
probably damaging |
Het |
| Thsd7b |
C |
T |
1: 130,145,918 (GRCm39) |
|
probably benign |
Het |
| Thumpd3 |
A |
G |
6: 113,040,120 (GRCm39) |
I335V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,602,016 (GRCm39) |
T18549A |
possibly damaging |
Het |
| Ugt2b37 |
G |
T |
5: 87,399,698 (GRCm39) |
P270Q |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,105,352 (GRCm39) |
Y158* |
probably null |
Het |
| Zfp282 |
A |
T |
6: 47,857,211 (GRCm39) |
E148V |
probably damaging |
Het |
|
| Other mutations in Or4c118 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01346:Or4c118
|
APN |
2 |
88,974,575 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL01817:Or4c118
|
APN |
2 |
88,974,702 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02669:Or4c118
|
APN |
2 |
88,974,564 (GRCm39) |
nonsense |
probably null |
|
|
IGL03270:Or4c118
|
APN |
2 |
88,975,089 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0062:Or4c118
|
UTSW |
2 |
88,974,966 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0062:Or4c118
|
UTSW |
2 |
88,974,966 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0304:Or4c118
|
UTSW |
2 |
88,975,108 (GRCm39) |
nonsense |
probably null |
|
|
R1651:Or4c118
|
UTSW |
2 |
88,975,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1971:Or4c118
|
UTSW |
2 |
88,975,078 (GRCm39) |
nonsense |
probably null |
|
|
R2006:Or4c118
|
UTSW |
2 |
88,975,241 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2101:Or4c118
|
UTSW |
2 |
88,975,301 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2410:Or4c118
|
UTSW |
2 |
88,974,899 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3683:Or4c118
|
UTSW |
2 |
88,975,364 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R3685:Or4c118
|
UTSW |
2 |
88,975,364 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R3939:Or4c118
|
UTSW |
2 |
88,974,474 (GRCm39) |
nonsense |
probably null |
|
|
R6162:Or4c118
|
UTSW |
2 |
88,975,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8431:Or4c118
|
UTSW |
2 |
88,974,723 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8842:Or4c118
|
UTSW |
2 |
88,975,074 (GRCm39) |
missense |
probably benign |
|
|
R9631:Or4c118
|
UTSW |
2 |
88,975,522 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation