Incidental Mutation 'R3150:Or4c1'
| ID |
271615 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4c1
|
| Ensembl Gene |
ENSMUSG00000075093 |
| Gene Name |
olfactory receptor family 4 subfamily C member 1 |
| Synonyms |
MOR235-2, GA_x6K02T2Q125-50748233-50747292, Olfr1231 |
| MMRRC Submission |
040602-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R3150 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
89132993-89133934 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89133562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 125
(V125M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150310
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099786]
[ENSMUST00000216144]
|
| AlphaFold |
Q7TQZ8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099786
AA Change: V125M
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097374
Gene: ENSMUSG00000075093
AA Change: V125M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
306 |
7e-43 |
PFAM |
|
Pfam:7tm_1
|
42 |
288 |
1.3e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216144
AA Change: V125M
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
A |
T |
4: 63,313,590 (GRCm39) |
S178T |
possibly damaging |
Het |
| Cabin1 |
A |
G |
10: 75,492,745 (GRCm39) |
L1850P |
probably damaging |
Het |
| Ccdc178 |
G |
T |
18: 22,200,709 (GRCm39) |
A416E |
possibly damaging |
Het |
| Ces1g |
C |
T |
8: 94,052,444 (GRCm39) |
V282I |
probably benign |
Het |
| Col4a3 |
T |
G |
1: 82,634,858 (GRCm39) |
|
probably null |
Het |
| Crat |
C |
T |
2: 30,303,871 (GRCm39) |
|
probably null |
Het |
| Csf2ra |
C |
A |
19: 61,215,758 (GRCm39) |
A16S |
possibly damaging |
Het |
| Cspg4b |
A |
T |
13: 113,488,294 (GRCm39) |
Q105H |
probably damaging |
Het |
| Cyp4f18 |
T |
C |
8: 72,747,044 (GRCm39) |
D317G |
possibly damaging |
Het |
| Ddb1 |
T |
A |
19: 10,590,346 (GRCm39) |
M291K |
probably benign |
Het |
| Fcgbpl1 |
C |
A |
7: 27,853,620 (GRCm39) |
T1528N |
probably benign |
Het |
| Gfod2 |
C |
T |
8: 106,443,853 (GRCm39) |
G230D |
probably benign |
Het |
| Git2 |
A |
G |
5: 114,868,410 (GRCm39) |
S257P |
probably damaging |
Het |
| Gm5592 |
A |
G |
7: 40,937,804 (GRCm39) |
E362G |
probably benign |
Het |
| Gpatch2l |
A |
G |
12: 86,291,089 (GRCm39) |
T91A |
possibly damaging |
Het |
| Hjurp |
A |
G |
1: 88,194,283 (GRCm39) |
|
probably benign |
Het |
| Hnrnph1 |
T |
A |
11: 50,276,619 (GRCm39) |
V439E |
probably benign |
Het |
| Itgad |
C |
A |
7: 127,790,153 (GRCm39) |
H651N |
possibly damaging |
Het |
| Map3k20 |
C |
T |
2: 72,202,336 (GRCm39) |
T189M |
probably damaging |
Het |
| Mapk11 |
T |
C |
15: 89,029,653 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nmral1 |
G |
A |
16: 4,534,333 (GRCm39) |
T36I |
probably damaging |
Het |
| Or5b119 |
A |
G |
19: 13,456,824 (GRCm39) |
V246A |
probably damaging |
Het |
| Or7e169 |
A |
G |
9: 19,757,510 (GRCm39) |
I135T |
possibly damaging |
Het |
| Padi6 |
A |
G |
4: 140,462,700 (GRCm39) |
L307P |
probably damaging |
Het |
| Pkd1 |
G |
T |
17: 24,798,765 (GRCm39) |
R2691L |
probably benign |
Het |
| Ppp2r2a |
G |
A |
14: 67,261,214 (GRCm39) |
R169W |
probably damaging |
Het |
| Prdm1 |
A |
T |
10: 44,334,488 (GRCm39) |
|
probably null |
Het |
| Robo1 |
C |
T |
16: 72,767,157 (GRCm39) |
P443L |
possibly damaging |
Het |
| Rtn4 |
CGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGA |
11: 29,643,308 (GRCm39) |
|
probably benign |
Het |
| Shprh |
A |
G |
10: 11,045,774 (GRCm39) |
H865R |
probably damaging |
Het |
| Spats1 |
A |
T |
17: 45,775,480 (GRCm39) |
S15T |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,220,327 (GRCm39) |
T216A |
probably benign |
Het |
| Sry |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
Y: 2,662,944 (GRCm39) |
|
probably benign |
Het |
| Tie1 |
G |
A |
4: 118,333,022 (GRCm39) |
A902V |
probably damaging |
Het |
| Usp22 |
T |
C |
11: 61,051,407 (GRCm39) |
Q312R |
probably damaging |
Het |
| Vmn2r32 |
T |
C |
7: 7,475,554 (GRCm39) |
Y443C |
probably benign |
Het |
| Vps13d |
A |
C |
4: 144,813,360 (GRCm39) |
D3274E |
probably damaging |
Het |
| Wdr62 |
A |
T |
7: 29,971,095 (GRCm39) |
N167K |
possibly damaging |
Het |
| Xpo5 |
A |
G |
17: 46,553,173 (GRCm39) |
|
probably null |
Het |
| Zswim7 |
A |
T |
11: 62,164,611 (GRCm39) |
I43N |
possibly damaging |
Het |
| Zswim9 |
T |
C |
7: 13,011,196 (GRCm39) |
T51A |
possibly damaging |
Het |
|
| Other mutations in Or4c1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01288:Or4c1
|
APN |
2 |
89,133,816 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02189:Or4c1
|
APN |
2 |
89,133,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02354:Or4c1
|
APN |
2 |
89,133,526 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02361:Or4c1
|
APN |
2 |
89,133,526 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4305001:Or4c1
|
UTSW |
2 |
89,133,727 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0973:Or4c1
|
UTSW |
2 |
89,133,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Or4c1
|
UTSW |
2 |
89,133,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0974:Or4c1
|
UTSW |
2 |
89,133,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2006:Or4c1
|
UTSW |
2 |
89,133,160 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R3177:Or4c1
|
UTSW |
2 |
89,133,562 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3277:Or4c1
|
UTSW |
2 |
89,133,562 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3409:Or4c1
|
UTSW |
2 |
89,133,717 (GRCm39) |
missense |
probably benign |
|
|
R4208:Or4c1
|
UTSW |
2 |
89,133,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4412:Or4c1
|
UTSW |
2 |
89,133,684 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4693:Or4c1
|
UTSW |
2 |
89,133,621 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4697:Or4c1
|
UTSW |
2 |
89,133,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4697:Or4c1
|
UTSW |
2 |
89,133,246 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5411:Or4c1
|
UTSW |
2 |
89,133,920 (GRCm39) |
missense |
probably benign |
|
|
R5992:Or4c1
|
UTSW |
2 |
89,133,703 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6894:Or4c1
|
UTSW |
2 |
89,133,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8017:Or4c1
|
UTSW |
2 |
89,133,595 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8019:Or4c1
|
UTSW |
2 |
89,133,595 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9274:Or4c1
|
UTSW |
2 |
89,133,513 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9457:Or4c1
|
UTSW |
2 |
89,133,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Or4c1
|
UTSW |
2 |
89,133,246 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
X0067:Or4c1
|
UTSW |
2 |
89,133,498 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGGCAAGTTTCAACAATGG -3'
(R):5'- TACCGTGTTGGCTAATCTGC -3'
Sequencing Primer
(F):5'- TTTCAACAATGGGAAGAGATCACAC -3'
(R):5'- CCGTGTTGGCTAATCTGCTCATTG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation