Incidental Mutation 'IGL02130:Or4c125'
| ID |
281010 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or4c125
|
| Ensembl Gene |
ENSMUSG00000075091 |
| Gene Name |
olfactory receptor family 4 subfamily C member 125 |
| Synonyms |
MOR238-1, Olfr1233, GA_x6K02T2Q125-50784973-50784056 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL02130
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
89169650-89172735 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 89169927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 240
(V240F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149446
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099784]
[ENSMUST00000215469]
[ENSMUST00000216561]
|
| AlphaFold |
Q8VGN0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099784
AA Change: V240F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097372
Gene: ENSMUSG00000075091
AA Change: V240F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
25 |
299 |
1.1e-46 |
PFAM |
|
Pfam:7tm_1
|
35 |
281 |
2.8e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215018
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215469
AA Change: V240F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216561
AA Change: V240F
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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn7l1 |
A |
T |
12: 33,392,141 (GRCm39) |
K239M |
probably damaging |
Het |
| Cep164 |
T |
C |
9: 45,691,090 (GRCm39) |
E1230G |
possibly damaging |
Het |
| Fas |
A |
G |
19: 34,292,695 (GRCm39) |
T101A |
probably benign |
Het |
| Fcnb |
A |
G |
2: 27,974,801 (GRCm39) |
|
probably null |
Het |
| Gm14325 |
A |
G |
2: 177,476,445 (GRCm39) |
|
probably benign |
Het |
| Gm4877 |
A |
T |
6: 42,496,991 (GRCm39) |
|
noncoding transcript |
Het |
| Heyl |
T |
C |
4: 123,140,064 (GRCm39) |
S208P |
probably benign |
Het |
| Ighv10-3 |
A |
T |
12: 114,487,121 (GRCm39) |
L100H |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,267,188 (GRCm39) |
S343G |
probably damaging |
Het |
| Lrriq4 |
T |
A |
3: 30,704,896 (GRCm39) |
V293E |
probably damaging |
Het |
| Mbd3l1 |
A |
T |
9: 18,396,023 (GRCm39) |
R49S |
probably damaging |
Het |
| Mdga1 |
A |
G |
17: 30,076,643 (GRCm39) |
I43T |
possibly damaging |
Het |
| N4bp3 |
T |
C |
11: 51,534,773 (GRCm39) |
E430G |
possibly damaging |
Het |
| Olfml3 |
A |
G |
3: 103,644,283 (GRCm39) |
Y129H |
probably benign |
Het |
| Or8b12i |
A |
G |
9: 20,082,654 (GRCm39) |
I71T |
probably damaging |
Het |
| Prex2 |
T |
C |
1: 11,183,023 (GRCm39) |
V424A |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,230,386 (GRCm39) |
V804E |
probably damaging |
Het |
| Rnf103 |
T |
C |
6: 71,486,548 (GRCm39) |
L393S |
probably damaging |
Het |
| Rnf20 |
T |
C |
4: 49,644,481 (GRCm39) |
|
probably benign |
Het |
| Slc25a16 |
A |
G |
10: 62,780,137 (GRCm39) |
I299V |
probably benign |
Het |
| Tmprss2 |
A |
T |
16: 97,392,089 (GRCm39) |
C5S |
probably damaging |
Het |
| Trpv3 |
A |
C |
11: 73,170,596 (GRCm39) |
M159L |
probably benign |
Het |
| Vmn2r45 |
A |
T |
7: 8,486,556 (GRCm39) |
M244K |
possibly damaging |
Het |
|
| Other mutations in Or4c125 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01879:Or4c125
|
APN |
2 |
89,170,366 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02264:Or4c125
|
APN |
2 |
89,170,028 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03155:Or4c125
|
APN |
2 |
89,170,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0412:Or4c125
|
UTSW |
2 |
89,170,422 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0558:Or4c125
|
UTSW |
2 |
89,170,580 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0614:Or4c125
|
UTSW |
2 |
89,170,329 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1138:Or4c125
|
UTSW |
2 |
89,170,434 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1969:Or4c125
|
UTSW |
2 |
89,170,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2192:Or4c125
|
UTSW |
2 |
89,170,009 (GRCm39) |
nonsense |
probably null |
|
|
R4417:Or4c125
|
UTSW |
2 |
89,170,331 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5329:Or4c125
|
UTSW |
2 |
89,169,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5394:Or4c125
|
UTSW |
2 |
89,169,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5645:Or4c125
|
UTSW |
2 |
89,170,049 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5949:Or4c125
|
UTSW |
2 |
89,170,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7524:Or4c125
|
UTSW |
2 |
89,170,221 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9643:Or4c125
|
UTSW |
2 |
89,170,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation