Incidental Mutation 'IGL02871:Or4c103'
| ID |
362572 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or4c103
|
| Ensembl Gene |
ENSMUSG00000075121 |
| Gene Name |
olfactory receptor family 4 subfamily C member 103 |
| Synonyms |
GA_x6K02T2Q125-50163514-50162588, MOR230-12_p, Olfr1195, MOR230-4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
IGL02871
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
88513148-88514074 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88513428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 216
(Y216F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081697]
[ENSMUST00000099818]
[ENSMUST00000213545]
[ENSMUST00000213893]
[ENSMUST00000216767]
|
| AlphaFold |
Q8VG21 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081697
|
| SMART Domains |
Protein: ENSMUSP00000080399
Gene: ENSMUSG00000060827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
36 |
310 |
7.5e-51 |
PFAM |
|
Pfam:7tm_1
|
46 |
292 |
7.3e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099818
AA Change: Y216F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097406
Gene: ENSMUSG00000075121
AA Change: Y216F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
2.5e-47 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
32 |
300 |
1.6e-5 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
5.2e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213545
AA Change: Y216F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213893
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216767
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217271
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl15 |
C |
A |
13: 114,291,374 (GRCm39) |
H179Q |
probably benign |
Het |
| Bin3 |
T |
A |
14: 70,366,354 (GRCm39) |
C72* |
probably null |
Het |
| Brca2 |
C |
T |
5: 150,466,017 (GRCm39) |
T1927I |
probably benign |
Het |
| Cap2 |
A |
G |
13: 46,678,968 (GRCm39) |
D26G |
probably benign |
Het |
| Casz1 |
T |
G |
4: 149,028,776 (GRCm39) |
S1074A |
possibly damaging |
Het |
| Chd5 |
C |
T |
4: 152,461,142 (GRCm39) |
P1244L |
probably damaging |
Het |
| Exosc9 |
A |
G |
3: 36,619,430 (GRCm39) |
N408S |
probably benign |
Het |
| Ezr |
G |
A |
17: 7,009,789 (GRCm39) |
Q352* |
probably null |
Het |
| Fbxl4 |
T |
A |
4: 22,386,213 (GRCm39) |
D273E |
probably benign |
Het |
| Gm3269 |
A |
T |
14: 16,028,154 (GRCm39) |
N193I |
probably damaging |
Het |
| Haus8 |
A |
T |
8: 71,709,138 (GRCm39) |
M90K |
probably benign |
Het |
| Igkv5-39 |
A |
T |
6: 69,877,490 (GRCm39) |
S89T |
probably benign |
Het |
| Nlrp4b |
A |
C |
7: 10,449,192 (GRCm39) |
D465A |
probably benign |
Het |
| Nsf |
A |
G |
11: 103,752,882 (GRCm39) |
|
probably benign |
Het |
| Nt5c1b |
G |
A |
12: 10,431,325 (GRCm39) |
M409I |
probably damaging |
Het |
| Or4a75 |
T |
C |
2: 89,448,504 (GRCm39) |
I11V |
probably benign |
Het |
| Or5ac17 |
T |
A |
16: 59,036,737 (GRCm39) |
K80* |
probably null |
Het |
| Pga5 |
T |
C |
19: 10,649,144 (GRCm39) |
|
probably benign |
Het |
| Pigk |
T |
A |
3: 152,472,153 (GRCm39) |
I355K |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,187,018 (GRCm39) |
Y404C |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,754,443 (GRCm39) |
E199G |
probably damaging |
Het |
| Sec24c |
T |
C |
14: 20,742,950 (GRCm39) |
S935P |
probably benign |
Het |
| Slc22a13 |
T |
C |
9: 119,025,077 (GRCm39) |
T200A |
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,100,871 (GRCm39) |
I1264L |
probably benign |
Het |
| Tcf7l2 |
T |
A |
19: 55,907,429 (GRCm39) |
C349S |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,906,048 (GRCm39) |
H284R |
probably benign |
Het |
| Vmn2r19 |
C |
T |
6: 123,313,042 (GRCm39) |
S704L |
probably damaging |
Het |
| Vmn2r50 |
A |
G |
7: 9,781,714 (GRCm39) |
Y344H |
possibly damaging |
Het |
|
| Other mutations in Or4c103 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00907:Or4c103
|
APN |
2 |
88,513,638 (GRCm39) |
missense |
probably benign |
|
|
IGL01396:Or4c103
|
APN |
2 |
88,513,575 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03049:Or4c103
|
APN |
2 |
88,513,834 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0408:Or4c103
|
UTSW |
2 |
88,513,999 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1562:Or4c103
|
UTSW |
2 |
88,513,423 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5308:Or4c103
|
UTSW |
2 |
88,513,749 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5806:Or4c103
|
UTSW |
2 |
88,513,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6119:Or4c103
|
UTSW |
2 |
88,513,935 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6178:Or4c103
|
UTSW |
2 |
88,513,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6510:Or4c103
|
UTSW |
2 |
88,513,302 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6919:Or4c103
|
UTSW |
2 |
88,514,028 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7205:Or4c103
|
UTSW |
2 |
88,513,767 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7253:Or4c103
|
UTSW |
2 |
88,513,969 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7663:Or4c103
|
UTSW |
2 |
88,513,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8011:Or4c103
|
UTSW |
2 |
88,513,537 (GRCm39) |
nonsense |
probably null |
|
|
R8671:Or4c103
|
UTSW |
2 |
88,513,449 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8674:Or4c103
|
UTSW |
2 |
88,513,774 (GRCm39) |
missense |
probably benign |
|
|
R8845:Or4c103
|
UTSW |
2 |
88,513,735 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9184:Or4c103
|
UTSW |
2 |
88,513,519 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
| Posted On |
2015-12-18 |
Incidental Mutation