Incidental Mutation 'R3606:Or5i1'
ID |
269075 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or5i1
|
Ensembl Gene |
ENSMUSG00000068816 |
Gene Name |
olfactory receptor family 5 subfamily I member 1 |
Synonyms |
GA_x6K02T2Q125-49283184-49284128, Olfr152, Olfr4-1, V1, MOR181-1 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.312)
|
Stock # |
R3606 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
87612880-87613830 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 87613551 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 222
(F222L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150778
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090709]
[ENSMUST00000105210]
[ENSMUST00000215394]
|
AlphaFold |
G3X9L8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090709
AA Change: F224L
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000088211 Gene: ENSMUSG00000068816 AA Change: F224L
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
35 |
312 |
4.3e-49 |
PFAM |
Pfam:7tm_1
|
45 |
314 |
7.9e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105210
AA Change: F222L
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000100845 Gene: ENSMUSG00000068816 AA Change: F222L
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
43 |
292 |
6.4e-28 |
PFAM |
Pfam:7tm_4
|
141 |
285 |
1.3e-46 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213624
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215394
AA Change: F222L
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.8%
|
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid4b |
T |
C |
13: 14,294,826 (GRCm39) |
V36A |
probably damaging |
Het |
Cd101 |
A |
T |
3: 100,927,913 (GRCm39) |
I56N |
probably damaging |
Het |
Cs |
A |
T |
10: 128,195,892 (GRCm39) |
H367L |
probably benign |
Het |
Ddb1 |
A |
G |
19: 10,605,857 (GRCm39) |
E1095G |
probably damaging |
Het |
Fgfrl1 |
C |
A |
5: 108,853,289 (GRCm39) |
T213K |
probably damaging |
Het |
Ift70a1 |
T |
C |
2: 75,811,621 (GRCm39) |
D154G |
probably benign |
Het |
Kprp |
C |
A |
3: 92,731,588 (GRCm39) |
Q487H |
unknown |
Het |
Myom2 |
T |
C |
8: 15,119,775 (GRCm39) |
V177A |
probably damaging |
Het |
Nelfcd |
A |
G |
2: 174,268,337 (GRCm39) |
Y525C |
probably benign |
Het |
Or2t49 |
C |
T |
11: 58,392,957 (GRCm39) |
V148M |
possibly damaging |
Het |
Pcdhgc5 |
A |
G |
18: 37,953,560 (GRCm39) |
D278G |
probably benign |
Het |
Peg3 |
T |
C |
7: 6,711,508 (GRCm39) |
E1238G |
probably damaging |
Het |
Plekha7 |
T |
C |
7: 115,763,477 (GRCm39) |
D313G |
possibly damaging |
Het |
Ppp1r9a |
A |
G |
6: 5,113,674 (GRCm39) |
N726S |
possibly damaging |
Het |
Psmd3 |
C |
T |
11: 98,581,780 (GRCm39) |
R302W |
probably damaging |
Het |
Ptbp2 |
A |
G |
3: 119,541,281 (GRCm39) |
L223P |
probably damaging |
Het |
Ranbp10 |
A |
G |
8: 106,502,667 (GRCm39) |
S300P |
probably benign |
Het |
Rundc3b |
A |
T |
5: 8,562,386 (GRCm39) |
D327E |
probably damaging |
Het |
Tsr1 |
T |
C |
11: 74,796,059 (GRCm39) |
S562P |
probably benign |
Het |
Ube3c |
A |
G |
5: 29,803,936 (GRCm39) |
T180A |
possibly damaging |
Het |
|
Other mutations in Or5i1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00951:Or5i1
|
APN |
2 |
87,612,883 (GRCm39) |
missense |
probably benign |
|
IGL01124:Or5i1
|
APN |
2 |
87,613,720 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01383:Or5i1
|
APN |
2 |
87,613,217 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01501:Or5i1
|
APN |
2 |
87,613,480 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02279:Or5i1
|
APN |
2 |
87,613,576 (GRCm39) |
missense |
probably damaging |
0.99 |
R0141:Or5i1
|
UTSW |
2 |
87,613,049 (GRCm39) |
missense |
possibly damaging |
0.74 |
R0212:Or5i1
|
UTSW |
2 |
87,613,826 (GRCm39) |
missense |
unknown |
|
R0492:Or5i1
|
UTSW |
2 |
87,613,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R1611:Or5i1
|
UTSW |
2 |
87,612,968 (GRCm39) |
missense |
probably benign |
0.38 |
R1697:Or5i1
|
UTSW |
2 |
87,612,929 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4583:Or5i1
|
UTSW |
2 |
87,613,565 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4646:Or5i1
|
UTSW |
2 |
87,613,565 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4648:Or5i1
|
UTSW |
2 |
87,613,565 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4853:Or5i1
|
UTSW |
2 |
87,613,526 (GRCm39) |
missense |
probably benign |
0.04 |
R6102:Or5i1
|
UTSW |
2 |
87,613,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R6154:Or5i1
|
UTSW |
2 |
87,613,100 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7637:Or5i1
|
UTSW |
2 |
87,613,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R8306:Or5i1
|
UTSW |
2 |
87,613,830 (GRCm39) |
makesense |
probably null |
|
R9294:Or5i1
|
UTSW |
2 |
87,612,867 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9461:Or5i1
|
UTSW |
2 |
87,612,883 (GRCm39) |
missense |
probably benign |
|
Z1088:Or5i1
|
UTSW |
2 |
87,612,972 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Or5i1
|
UTSW |
2 |
87,613,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCAACATGAGTTCTTTGGTTC -3'
(R):5'- CAATGGGTTTAGCACTGGGATG -3'
Sequencing Primer
(F):5'- ACATGAGTTCTTTGGTTCACACATC -3'
(R):5'- TTAGCACTGGGATGATAATAGTGTAG -3'
|
Posted On |
2015-02-19 |