Incidental Mutation 'IGL01074:Or4c116'
| ID |
50426 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or4c116
|
| Ensembl Gene |
ENSMUSG00000075102 |
| Gene Name |
olfactory receptor family 4 subfamily C member 116 |
| Synonyms |
Olfr1221, MOR233-3, GA_x6K02T2Q125-50591144-50590209 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
IGL01074
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
88941919-88942854 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88942023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 278
(T278A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099795]
[ENSMUST00000099806]
[ENSMUST00000143255]
[ENSMUST00000213288]
[ENSMUST00000213404]
[ENSMUST00000217635]
|
| AlphaFold |
L7MU53 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099795
AA Change: T278A
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000097383
Gene: ENSMUSG00000075102
AA Change: T278A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
5.6e-48 |
PFAM |
|
Pfam:7tm_1
|
39 |
302 |
3.6e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099806
|
| SMART Domains |
Protein: ENSMUSP00000097394
Gene: ENSMUSG00000101480
| 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: ENSMUST00000143255
AA Change: T278A
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213288
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213404
AA Change: T278A
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217635
AA Change: T278A
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
G |
10: 79,849,726 (GRCm39) |
D1934G |
possibly damaging |
Het |
| Adcy2 |
A |
T |
13: 68,944,773 (GRCm39) |
I203N |
possibly damaging |
Het |
| Asxl3 |
T |
C |
18: 22,655,902 (GRCm39) |
V1304A |
probably damaging |
Het |
| Bltp3a |
A |
G |
17: 28,098,265 (GRCm39) |
I136V |
possibly damaging |
Het |
| Cmah |
A |
G |
13: 24,648,238 (GRCm39) |
D491G |
possibly damaging |
Het |
| Cobll1 |
A |
G |
2: 64,938,192 (GRCm39) |
S364P |
probably damaging |
Het |
| Cspg4 |
T |
C |
9: 56,806,149 (GRCm39) |
L2320P |
probably damaging |
Het |
| Defa5 |
T |
A |
8: 21,787,592 (GRCm39) |
F46L |
possibly damaging |
Het |
| Erich6b |
T |
A |
14: 75,896,208 (GRCm39) |
N31K |
probably benign |
Het |
| Fcrl6 |
C |
T |
1: 172,426,680 (GRCm39) |
V89M |
possibly damaging |
Het |
| Gm5458 |
G |
T |
14: 19,649,760 (GRCm39) |
L155I |
probably damaging |
Het |
| Hlx |
T |
C |
1: 184,460,010 (GRCm39) |
D376G |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,502,784 (GRCm39) |
S3948P |
possibly damaging |
Het |
| Igf2bp2 |
G |
A |
16: 21,882,454 (GRCm39) |
R416W |
probably damaging |
Het |
| Lama4 |
T |
C |
10: 38,974,484 (GRCm39) |
|
probably null |
Het |
| Lingo4 |
T |
C |
3: 94,310,595 (GRCm39) |
V511A |
probably benign |
Het |
| Mllt3 |
C |
A |
4: 87,710,118 (GRCm39) |
V29L |
probably benign |
Het |
| Mmp16 |
T |
C |
4: 18,110,584 (GRCm39) |
|
probably benign |
Het |
| Moxd1 |
A |
G |
10: 24,155,282 (GRCm39) |
R228G |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,615,490 (GRCm39) |
N802S |
possibly damaging |
Het |
| Nmu |
C |
A |
5: 76,491,774 (GRCm39) |
V121F |
probably damaging |
Het |
| Npepps |
T |
C |
11: 97,108,637 (GRCm39) |
T760A |
probably damaging |
Het |
| Ogfod1 |
G |
T |
8: 94,789,634 (GRCm39) |
W445L |
probably damaging |
Het |
| Oplah |
G |
A |
15: 76,189,948 (GRCm39) |
P222S |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,327,633 (GRCm39) |
L699H |
probably damaging |
Het |
| Sod3 |
C |
T |
5: 52,525,540 (GRCm39) |
Q80* |
probably null |
Het |
| Syne2 |
C |
T |
12: 76,078,361 (GRCm39) |
Q4732* |
probably null |
Het |
| Syne2 |
T |
C |
12: 76,033,785 (GRCm39) |
I3678T |
probably benign |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tmem220 |
T |
C |
11: 66,922,999 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,874,674 (GRCm39) |
|
probably benign |
Het |
| Wbp2nl |
T |
C |
15: 82,198,491 (GRCm39) |
S343P |
possibly damaging |
Het |
|
| Other mutations in Or4c116 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01965:Or4c116
|
APN |
2 |
88,942,535 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02645:Or4c116
|
APN |
2 |
88,941,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
G1patch:Or4c116
|
UTSW |
2 |
88,942,640 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
PIT4354001:Or4c116
|
UTSW |
2 |
88,942,830 (GRCm39) |
nonsense |
probably null |
|
|
R0124:Or4c116
|
UTSW |
2 |
88,942,088 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0940:Or4c116
|
UTSW |
2 |
88,942,419 (GRCm39) |
missense |
probably benign |
|
|
R3689:Or4c116
|
UTSW |
2 |
88,942,386 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4489:Or4c116
|
UTSW |
2 |
88,941,916 (GRCm39) |
splice site |
probably null |
|
|
R4706:Or4c116
|
UTSW |
2 |
88,942,576 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4707:Or4c116
|
UTSW |
2 |
88,942,576 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5133:Or4c116
|
UTSW |
2 |
88,942,140 (GRCm39) |
splice site |
probably null |
|
|
R6629:Or4c116
|
UTSW |
2 |
88,942,506 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6644:Or4c116
|
UTSW |
2 |
88,942,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6723:Or4c116
|
UTSW |
2 |
88,942,640 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6725:Or4c116
|
UTSW |
2 |
88,942,640 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6754:Or4c116
|
UTSW |
2 |
88,942,640 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6765:Or4c116
|
UTSW |
2 |
88,942,640 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6766:Or4c116
|
UTSW |
2 |
88,942,640 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7215:Or4c116
|
UTSW |
2 |
88,942,845 (GRCm39) |
nonsense |
probably null |
|
|
R7562:Or4c116
|
UTSW |
2 |
88,942,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7681:Or4c116
|
UTSW |
2 |
88,941,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7981:Or4c116
|
UTSW |
2 |
88,942,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8318:Or4c116
|
UTSW |
2 |
88,942,242 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8425:Or4c116
|
UTSW |
2 |
88,942,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8788:Or4c116
|
UTSW |
2 |
88,942,626 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-06-21 |
Incidental Mutation