Incidental Mutation 'R5856:Or4c115'
| ID |
454894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4c115
|
| Ensembl Gene |
ENSMUSG00000101480 |
| Gene Name |
olfactory receptor family 4 subfamily C member 115 |
| Synonyms |
Olfr1220, GA_x6K02T2Q125-50579531-50578596, MOR233-5 |
| MMRRC Submission |
043230-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R5856 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
88927282-88928307 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88928254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 6
(I6F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099789]
[ENSMUST00000099806]
[ENSMUST00000213288]
|
| AlphaFold |
F7BL62 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099789
AA Change: I6F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097377
Gene: ENSMUSG00000101480
AA Change: I6F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
41 |
315 |
4.2e-48 |
PFAM |
|
Pfam:7tm_1
|
51 |
298 |
4.1e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099806
AA Change: I6F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097394
Gene: ENSMUSG00000101480
AA Change: I6F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
2.5e-47 |
PFAM |
|
Pfam:7tm_1
|
39 |
286 |
3.2e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213288
AA Change: I6F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.2%
|
| 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 |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Adgrf5 |
A |
G |
17: 43,757,011 (GRCm39) |
T497A |
probably benign |
Het |
| Ano5 |
T |
C |
7: 51,235,074 (GRCm39) |
I669T |
probably benign |
Het |
| Arhgap11a |
A |
T |
2: 113,664,116 (GRCm39) |
N722K |
possibly damaging |
Het |
| Atm |
A |
T |
9: 53,407,255 (GRCm39) |
I1161K |
possibly damaging |
Het |
| Atp13a4 |
T |
C |
16: 29,252,805 (GRCm39) |
T714A |
possibly damaging |
Het |
| BC051665 |
T |
A |
13: 60,932,314 (GRCm39) |
M92L |
probably benign |
Het |
| Car3 |
G |
A |
3: 14,936,701 (GRCm39) |
V255M |
probably damaging |
Het |
| Cnot11 |
C |
A |
1: 39,576,534 (GRCm39) |
F179L |
probably benign |
Het |
| Dctn1 |
A |
G |
6: 83,174,847 (GRCm39) |
Y1013C |
probably damaging |
Het |
| Gm19965 |
A |
G |
1: 116,749,579 (GRCm39) |
D420G |
probably benign |
Het |
| Gm5444 |
A |
G |
13: 4,821,683 (GRCm39) |
|
noncoding transcript |
Het |
| Hydin |
A |
T |
8: 111,268,474 (GRCm39) |
D2946V |
probably damaging |
Het |
| Hyou1 |
C |
T |
9: 44,292,641 (GRCm39) |
R119C |
probably damaging |
Het |
| Ighm |
A |
T |
12: 113,385,222 (GRCm39) |
L246Q |
unknown |
Het |
| Itpr3 |
A |
G |
17: 27,325,379 (GRCm39) |
E1324G |
probably damaging |
Het |
| Loxl4 |
G |
T |
19: 42,583,805 (GRCm39) |
Q749K |
possibly damaging |
Het |
| Muc2 |
C |
A |
7: 141,299,381 (GRCm39) |
|
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,023,840 (GRCm39) |
T1505A |
probably benign |
Het |
| Nsmce2 |
A |
G |
15: 59,250,792 (GRCm39) |
E21G |
probably damaging |
Het |
| Or13c3 |
T |
A |
4: 52,856,516 (GRCm39) |
|
probably benign |
Het |
| Plaa |
A |
G |
4: 94,471,724 (GRCm39) |
I375T |
probably benign |
Het |
| Pou2f1 |
C |
T |
1: 165,742,699 (GRCm39) |
A65T |
probably benign |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Rxfp1 |
T |
A |
3: 79,570,620 (GRCm39) |
N271Y |
possibly damaging |
Het |
| Sema5b |
T |
G |
16: 35,466,756 (GRCm39) |
Y219* |
probably null |
Het |
| Slc35f3 |
G |
T |
8: 127,047,819 (GRCm39) |
R53L |
probably benign |
Het |
| Slc44a5 |
T |
C |
3: 153,964,029 (GRCm39) |
V465A |
possibly damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,083,797 (GRCm39) |
I446V |
possibly damaging |
Het |
| Slf1 |
A |
T |
13: 77,254,206 (GRCm39) |
D204E |
possibly damaging |
Het |
| Sox5 |
T |
A |
6: 144,155,088 (GRCm39) |
T3S |
probably damaging |
Het |
| Srr |
G |
A |
11: 74,803,838 (GRCm39) |
R40C |
possibly damaging |
Het |
| Tas2r115 |
T |
A |
6: 132,714,501 (GRCm39) |
H150L |
possibly damaging |
Het |
| Tet2 |
A |
G |
3: 133,192,401 (GRCm39) |
S678P |
probably benign |
Het |
| Tmem11 |
T |
C |
11: 60,755,684 (GRCm39) |
K183E |
probably damaging |
Het |
| Upf1 |
T |
C |
8: 70,787,412 (GRCm39) |
|
probably null |
Het |
| Xpo6 |
A |
T |
7: 125,748,674 (GRCm39) |
|
probably benign |
Het |
| Zfp638 |
C |
T |
6: 83,954,047 (GRCm39) |
S1384L |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
|
| Other mutations in Or4c115 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01761:Or4c115
|
APN |
2 |
88,927,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02861:Or4c115
|
APN |
2 |
88,927,801 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02990:Or4c115
|
APN |
2 |
88,927,473 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4403001:Or4c115
|
UTSW |
2 |
88,927,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0589:Or4c115
|
UTSW |
2 |
88,927,606 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1518:Or4c115
|
UTSW |
2 |
88,927,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1573:Or4c115
|
UTSW |
2 |
88,928,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1800:Or4c115
|
UTSW |
2 |
88,928,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1908:Or4c115
|
UTSW |
2 |
88,927,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3409:Or4c115
|
UTSW |
2 |
88,927,668 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4678:Or4c115
|
UTSW |
2 |
88,927,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5888:Or4c115
|
UTSW |
2 |
88,928,269 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
|
R6961:Or4c115
|
UTSW |
2 |
88,928,149 (GRCm39) |
missense |
probably benign |
|
|
R7197:Or4c115
|
UTSW |
2 |
88,927,626 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7455:Or4c115
|
UTSW |
2 |
88,927,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7894:Or4c115
|
UTSW |
2 |
88,927,932 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8008:Or4c115
|
UTSW |
2 |
88,928,059 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8139:Or4c115
|
UTSW |
2 |
88,928,187 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8971:Or4c115
|
UTSW |
2 |
88,927,891 (GRCm39) |
nonsense |
probably null |
|
|
R9068:Or4c115
|
UTSW |
2 |
88,927,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9290:Or4c115
|
UTSW |
2 |
88,928,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Or4c115
|
UTSW |
2 |
88,928,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9717:Or4c115
|
UTSW |
2 |
88,927,573 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0019:Or4c115
|
UTSW |
2 |
88,928,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCTTGGGTGTGACAACAG -3'
(R):5'- GAGTAAACTATCTCTGTCCTCTAACCC -3'
Sequencing Primer
(F):5'- CAACAGTAGAAGTGCAAGTATCC -3'
(R):5'- CTCTAACCCGATTTAGAGGAGATAC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation