Incidental Mutation 'IGL01124:Or5i1'
| ID |
50575 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01124
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
87612880-87613830 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87613720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 279
(F279L)
|
| 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: F281L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000088211
Gene: ENSMUSG00000068816
AA Change: F281L
| 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: F279L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000100845
Gene: ENSMUSG00000068816
AA Change: F279L
| 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: F279L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
T |
C |
10: 50,608,569 (GRCm39) |
I1477T |
probably damaging |
Het |
| Baat |
A |
G |
4: 49,490,391 (GRCm39) |
I231T |
possibly damaging |
Het |
| Cactin |
T |
C |
10: 81,160,184 (GRCm39) |
S426P |
possibly damaging |
Het |
| Cfh |
A |
T |
1: 140,110,999 (GRCm39) |
F6I |
probably benign |
Het |
| Clec4a2 |
C |
T |
6: 123,116,037 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,611,129 (GRCm39) |
S148P |
probably damaging |
Het |
| Cubn |
G |
T |
2: 13,482,904 (GRCm39) |
Q281K |
possibly damaging |
Het |
| Cyp2c65 |
T |
A |
19: 39,081,954 (GRCm39) |
|
probably benign |
Het |
| Dennd4b |
A |
T |
3: 90,176,381 (GRCm39) |
T243S |
possibly damaging |
Het |
| Epha8 |
C |
T |
4: 136,663,394 (GRCm39) |
G518D |
probably damaging |
Het |
| Fmo3 |
G |
A |
1: 162,785,830 (GRCm39) |
R387C |
probably damaging |
Het |
| Foxo6 |
T |
C |
4: 120,126,349 (GRCm39) |
T149A |
probably benign |
Het |
| Fthl17d |
T |
C |
X: 8,852,827 (GRCm39) |
E3G |
probably benign |
Het |
| Gm10521 |
A |
G |
1: 171,724,010 (GRCm39) |
Y107C |
unknown |
Het |
| Ipo8 |
T |
A |
6: 148,678,874 (GRCm39) |
E908V |
probably benign |
Het |
| Kcnd2 |
T |
C |
6: 21,217,216 (GRCm39) |
S307P |
probably damaging |
Het |
| Klf3 |
A |
G |
5: 64,974,123 (GRCm39) |
M3V |
possibly damaging |
Het |
| Ldb3 |
T |
A |
14: 34,266,157 (GRCm39) |
E417D |
probably damaging |
Het |
| Lrch1 |
A |
T |
14: 74,994,503 (GRCm39) |
D673E |
probably benign |
Het |
| Map3k4 |
T |
C |
17: 12,474,087 (GRCm39) |
K865E |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,589,104 (GRCm39) |
V754I |
possibly damaging |
Het |
| Nek4 |
A |
G |
14: 30,692,219 (GRCm39) |
N223D |
probably benign |
Het |
| Nell2 |
G |
A |
15: 95,194,060 (GRCm39) |
T551M |
probably damaging |
Het |
| Nup155 |
T |
A |
15: 8,183,163 (GRCm39) |
M1241K |
probably damaging |
Het |
| Or2t49 |
A |
T |
11: 58,393,020 (GRCm39) |
S121T |
possibly damaging |
Het |
| Orc1 |
T |
C |
4: 108,445,984 (GRCm39) |
|
probably benign |
Het |
| Pclo |
T |
C |
5: 14,764,343 (GRCm39) |
I4272T |
unknown |
Het |
| Ppp1r12c |
A |
G |
7: 4,500,344 (GRCm39) |
|
probably benign |
Het |
| Prcp |
A |
G |
7: 92,559,416 (GRCm39) |
E160G |
probably benign |
Het |
| Prl3d3 |
G |
A |
13: 27,343,090 (GRCm39) |
R92Q |
possibly damaging |
Het |
| Prl6a1 |
T |
A |
13: 27,500,347 (GRCm39) |
M106K |
possibly damaging |
Het |
| Slc22a1 |
T |
A |
17: 12,869,749 (GRCm39) |
|
probably benign |
Het |
| Slco3a1 |
A |
G |
7: 73,934,295 (GRCm39) |
Y626H |
probably damaging |
Het |
| Smtn |
A |
G |
11: 3,476,326 (GRCm39) |
|
probably null |
Het |
| Snx30 |
T |
C |
4: 59,886,404 (GRCm39) |
|
probably benign |
Het |
| Spock2 |
A |
G |
10: 59,967,209 (GRCm39) |
D393G |
unknown |
Het |
| Trem3 |
T |
G |
17: 48,556,829 (GRCm39) |
L100R |
probably damaging |
Het |
| Trpm2 |
A |
T |
10: 77,781,659 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,745,386 (GRCm39) |
M901V |
probably benign |
Het |
| Usp28 |
T |
A |
9: 48,948,513 (GRCm39) |
S873T |
probably damaging |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,856 (GRCm39) |
I7V |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,338,959 (GRCm39) |
L400P |
probably 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 |
|
|
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 |
|
R3606:Or5i1
|
UTSW |
2 |
87,613,551 (GRCm39) |
missense |
probably benign |
0.26 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation