Incidental Mutation 'IGL03197:Or4c104'
| ID |
412845 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or4c104
|
| Ensembl Gene |
ENSMUSG00000089892 |
| Gene Name |
olfactory receptor family 4 subfamily C member 104 |
| Synonyms |
GA_x6K02T2Q125-50231574-50230642, Olfr1199, MOR230-8 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL03197
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
88586085-88590829 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88586545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 158
(I158K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099813]
[ENSMUST00000124021]
[ENSMUST00000131038]
[ENSMUST00000213138]
[ENSMUST00000215179]
[ENSMUST00000215529]
|
| AlphaFold |
Q8VF94 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099813
AA Change: I158K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097401
Gene: ENSMUSG00000089892
AA Change: I158K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
4.4e-48 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
4.4e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124021
AA Change: I158K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131038
AA Change: I158K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213138
AA Change: I158K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215179
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215529
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
A |
G |
8: 117,698,541 (GRCm39) |
W189R |
probably damaging |
Het |
| Abcb7 |
A |
T |
X: 103,327,797 (GRCm39) |
M704K |
possibly damaging |
Het |
| Anp32e |
A |
G |
3: 95,844,364 (GRCm39) |
D71G |
probably damaging |
Het |
| Asphd1 |
T |
C |
7: 126,545,298 (GRCm39) |
D353G |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,731,898 (GRCm39) |
K2047E |
possibly damaging |
Het |
| Cyp2c39 |
G |
T |
19: 39,555,361 (GRCm39) |
V394F |
probably damaging |
Het |
| Ddx43 |
G |
A |
9: 78,325,402 (GRCm39) |
M482I |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,350,089 (GRCm39) |
V2348E |
probably damaging |
Het |
| Fam135a |
A |
G |
1: 24,083,263 (GRCm39) |
F304L |
probably damaging |
Het |
| Gabra3 |
A |
G |
X: 71,583,734 (GRCm39) |
I66T |
possibly damaging |
Het |
| Irf4 |
A |
T |
13: 30,947,503 (GRCm39) |
|
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,395,475 (GRCm39) |
D578G |
probably benign |
Het |
| Lrig1 |
A |
G |
6: 94,583,099 (GRCm39) |
S1006P |
probably benign |
Het |
| Mfsd14a |
A |
C |
3: 116,430,012 (GRCm39) |
S307A |
probably benign |
Het |
| Mill1 |
A |
G |
7: 17,998,590 (GRCm39) |
T267A |
probably benign |
Het |
| Nfyc |
C |
A |
4: 120,630,958 (GRCm39) |
D62Y |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,073,584 (GRCm39) |
T1190A |
probably benign |
Het |
| Nup42 |
T |
C |
5: 24,372,463 (GRCm39) |
S84P |
probably damaging |
Het |
| Ociad1 |
T |
C |
5: 73,451,675 (GRCm39) |
S15P |
probably benign |
Het |
| Or6c69c |
A |
T |
10: 129,910,548 (GRCm39) |
I90F |
probably damaging |
Het |
| Or7g25 |
A |
G |
9: 19,160,098 (GRCm39) |
I199T |
probably benign |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,477 (GRCm39) |
L269* |
probably null |
Het |
| Pigo |
A |
C |
4: 43,022,103 (GRCm39) |
M352R |
possibly damaging |
Het |
| Plch1 |
T |
C |
3: 63,660,591 (GRCm39) |
M343V |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Prkag1 |
A |
G |
15: 98,713,058 (GRCm39) |
|
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,130,866 (GRCm39) |
K379R |
probably damaging |
Het |
| Rraga |
G |
A |
4: 86,494,513 (GRCm39) |
A120T |
probably damaging |
Het |
| Serpina3a |
C |
T |
12: 104,082,500 (GRCm39) |
A91V |
probably damaging |
Het |
| Sik2 |
T |
C |
9: 50,807,073 (GRCm39) |
E779G |
probably damaging |
Het |
| Slc15a3 |
T |
G |
19: 10,832,443 (GRCm39) |
|
probably null |
Het |
| Smc1b |
C |
T |
15: 84,955,064 (GRCm39) |
D1063N |
possibly damaging |
Het |
| Speer1e |
T |
G |
5: 11,233,080 (GRCm39) |
N14K |
probably damaging |
Het |
| Speer1k |
T |
A |
5: 11,000,501 (GRCm39) |
|
probably benign |
Het |
| Srsf12 |
G |
A |
4: 33,231,040 (GRCm39) |
G183E |
probably damaging |
Het |
| Taf8 |
A |
G |
17: 47,809,127 (GRCm39) |
S112P |
probably benign |
Het |
| Trhde |
A |
G |
10: 114,249,213 (GRCm39) |
L851P |
probably benign |
Het |
| Wapl |
G |
T |
14: 34,467,588 (GRCm39) |
V1182F |
possibly damaging |
Het |
| Zfp326 |
A |
G |
5: 106,039,059 (GRCm39) |
I231V |
probably benign |
Het |
|
| Other mutations in Or4c104 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00924:Or4c104
|
APN |
2 |
88,586,500 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0282:Or4c104
|
UTSW |
2 |
88,586,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1564:Or4c104
|
UTSW |
2 |
88,587,000 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1750:Or4c104
|
UTSW |
2 |
88,586,117 (GRCm39) |
missense |
probably benign |
|
|
R2139:Or4c104
|
UTSW |
2 |
88,586,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4059:Or4c104
|
UTSW |
2 |
88,586,795 (GRCm39) |
missense |
probably benign |
|
|
R4722:Or4c104
|
UTSW |
2 |
88,586,356 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4787:Or4c104
|
UTSW |
2 |
88,586,219 (GRCm39) |
nonsense |
probably null |
|
|
R5595:Or4c104
|
UTSW |
2 |
88,586,749 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6522:Or4c104
|
UTSW |
2 |
88,586,452 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6825:Or4c104
|
UTSW |
2 |
88,586,255 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8205:Or4c104
|
UTSW |
2 |
88,587,016 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
|
R8302:Or4c104
|
UTSW |
2 |
88,586,987 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8413:Or4c104
|
UTSW |
2 |
88,587,024 (GRCm39) |
start gained |
probably benign |
|
|
R9400:Or4c104
|
UTSW |
2 |
88,586,293 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9560:Or4c104
|
UTSW |
2 |
88,586,290 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
Z1176:Or4c104
|
UTSW |
2 |
88,586,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation