Incidental Mutation 'R6629:Or4c116'
| ID |
524957 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4c116
|
| Ensembl Gene |
ENSMUSG00000075102 |
| Gene Name |
olfactory receptor family 4 subfamily C member 116 |
| Synonyms |
Olfr1221, MOR233-3, GA_x6K02T2Q125-50591144-50590209 |
| MMRRC Submission |
044751-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R6629 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
88941919-88942854 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88942506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 117
(M117L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099795]
[ENSMUST00000143255]
[ENSMUST00000213404]
[ENSMUST00000217635]
|
| AlphaFold |
L7MU53 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099795
AA Change: M117L
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000097383
Gene: ENSMUSG00000075102
AA Change: M117L
| 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: ENSMUST00000143255
AA Change: M117L
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213404
AA Change: M117L
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217635
AA Change: M117L
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.1581 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
97% (38/39) |
| 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 |
|---|
| Atxn3 |
A |
T |
12: 101,903,665 (GRCm39) |
M180K |
probably benign |
Het |
| Bnip2 |
G |
T |
9: 69,909,393 (GRCm39) |
R236L |
probably null |
Het |
| Boc |
T |
C |
16: 44,312,724 (GRCm39) |
D582G |
probably benign |
Het |
| Cacul1 |
T |
C |
19: 60,568,805 (GRCm39) |
S118G |
probably benign |
Het |
| Ccdc192 |
T |
C |
18: 57,863,852 (GRCm39) |
S219P |
possibly damaging |
Het |
| Cpa2 |
A |
T |
6: 30,554,193 (GRCm39) |
D271V |
probably damaging |
Het |
| Cubn |
G |
A |
2: 13,435,683 (GRCm39) |
T1091M |
probably damaging |
Het |
| Dlgap2 |
A |
G |
8: 14,881,465 (GRCm39) |
T846A |
probably benign |
Het |
| Eif5 |
G |
T |
12: 111,510,042 (GRCm39) |
A329S |
probably damaging |
Het |
| Fam136b-ps |
G |
A |
15: 31,276,962 (GRCm39) |
|
probably benign |
Het |
| Gnrhr |
A |
G |
5: 86,330,168 (GRCm39) |
V284A |
probably benign |
Het |
| Grin3a |
A |
G |
4: 49,844,991 (GRCm39) |
S31P |
probably damaging |
Het |
| Hectd2 |
T |
C |
19: 36,592,938 (GRCm39) |
L701P |
probably damaging |
Het |
| Hook1 |
C |
T |
4: 95,889,507 (GRCm39) |
T241I |
probably benign |
Het |
| Kif5a |
A |
G |
10: 127,084,123 (GRCm39) |
V52A |
probably damaging |
Het |
| Lasp1 |
T |
A |
11: 97,697,722 (GRCm39) |
Y11* |
probably null |
Het |
| Meltf |
A |
G |
16: 31,703,894 (GRCm39) |
Y207C |
probably damaging |
Het |
| Mllt3 |
ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT |
ACTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT |
4: 87,759,504 (GRCm39) |
|
probably benign |
Het |
| Nek1 |
A |
G |
8: 61,507,367 (GRCm39) |
|
probably null |
Het |
| Notch2 |
C |
A |
3: 98,028,197 (GRCm39) |
N969K |
possibly damaging |
Het |
| Pcnx2 |
C |
T |
8: 126,617,851 (GRCm39) |
G135R |
probably benign |
Het |
| Pla2g4f |
A |
T |
2: 120,138,723 (GRCm39) |
L242Q |
probably damaging |
Het |
| Plcxd2 |
T |
G |
16: 45,785,470 (GRCm39) |
T312P |
probably damaging |
Het |
| Prpf4 |
G |
A |
4: 62,336,097 (GRCm39) |
V275I |
possibly damaging |
Het |
| Prpf8 |
G |
A |
11: 75,386,252 (GRCm39) |
|
probably null |
Het |
| Pxn |
T |
C |
5: 115,692,121 (GRCm39) |
L401P |
probably damaging |
Het |
| Rab44 |
A |
T |
17: 29,354,754 (GRCm39) |
|
probably benign |
Het |
| Rfx6 |
C |
A |
10: 51,601,586 (GRCm39) |
T669K |
probably benign |
Het |
| Rgs16 |
A |
G |
1: 153,619,420 (GRCm39) |
N142S |
probably damaging |
Het |
| Rhobtb1 |
A |
G |
10: 69,106,146 (GRCm39) |
E237G |
possibly damaging |
Het |
| Rsbn1 |
A |
C |
3: 103,835,757 (GRCm39) |
D265A |
probably damaging |
Het |
| Rufy4 |
A |
G |
1: 74,171,526 (GRCm39) |
|
probably null |
Het |
| Slc4a1 |
C |
A |
11: 102,252,048 (GRCm39) |
E19* |
probably null |
Het |
| Tctn1 |
A |
G |
5: 122,380,731 (GRCm39) |
S526P |
probably damaging |
Het |
| Tspear |
A |
T |
10: 77,706,343 (GRCm39) |
H371L |
probably benign |
Het |
| Vmn1r34 |
A |
T |
6: 66,614,499 (GRCm39) |
F80I |
probably benign |
Het |
| Wdr75 |
G |
A |
1: 45,851,216 (GRCm39) |
S264N |
probably damaging |
Het |
| Zfp652 |
A |
T |
11: 95,654,616 (GRCm39) |
N340Y |
probably damaging |
Het |
| Zp3 |
A |
G |
5: 136,016,190 (GRCm39) |
T306A |
probably benign |
Het |
|
| Other mutations in Or4c116 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01074:Or4c116
|
APN |
2 |
88,942,023 (GRCm39) |
missense |
probably benign |
0.19 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAACAAGTCACACATATAATGGTC -3'
(R):5'- TCATCTACAGCCCTGCACTG -3'
Sequencing Primer
(F):5'- TGGTCAATAACATTGGGTCCACAG -3'
(R):5'- GCTGGGCTCCCCTATGTAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation