Incidental Mutation 'R4006:Or5e1'
ID |
311474 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or5e1
|
Ensembl Gene |
ENSMUSG00000051200 |
Gene Name |
olfactory receptor family 5 subfamily E member 1 |
Synonyms |
GA_x6K02T2PBJ9-11084889-11085818, Olfr513, MOR195-1 |
MMRRC Submission |
040845-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.189)
|
Stock # |
R4006 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
108354065-108354994 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 108354468 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 135
(T135I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149440
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055146]
[ENSMUST00000214670]
|
AlphaFold |
Q8VFZ3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055146
AA Change: T135I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000050578 Gene: ENSMUSG00000051200 AA Change: T135I
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
28 |
307 |
2.7e-55 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
33 |
304 |
2.3e-6 |
PFAM |
Pfam:7tm_1
|
39 |
289 |
2.8e-20 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214670
AA Change: T135I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.2%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts14 |
A |
G |
10: 61,038,600 (GRCm39) |
|
probably null |
Het |
Ano4 |
C |
A |
10: 88,924,125 (GRCm39) |
V329L |
probably benign |
Het |
Camkv |
C |
T |
9: 107,823,840 (GRCm39) |
R196W |
probably damaging |
Het |
Chd9 |
T |
C |
8: 91,660,188 (GRCm39) |
S383P |
probably benign |
Het |
Cimip1 |
T |
C |
2: 173,367,880 (GRCm39) |
|
probably null |
Het |
Cul4a |
A |
G |
8: 13,172,859 (GRCm39) |
N164S |
probably benign |
Het |
Dsg4 |
G |
A |
18: 20,604,022 (GRCm39) |
E830K |
probably damaging |
Het |
Fbln2 |
C |
A |
6: 91,246,943 (GRCm39) |
|
probably null |
Het |
Grm8 |
T |
C |
6: 27,981,229 (GRCm39) |
Y227C |
probably damaging |
Het |
Gsn |
G |
A |
2: 35,197,633 (GRCm39) |
W717* |
probably null |
Het |
Htr2a |
A |
T |
14: 74,879,581 (GRCm39) |
H70L |
probably benign |
Het |
Igfn1 |
C |
T |
1: 135,910,100 (GRCm39) |
|
probably null |
Het |
Iqsec3 |
A |
G |
6: 121,353,187 (GRCm39) |
S1144P |
probably damaging |
Het |
Lpin2 |
C |
T |
17: 71,553,496 (GRCm39) |
T878I |
probably damaging |
Het |
Lrrn2 |
A |
T |
1: 132,865,478 (GRCm39) |
D181V |
probably damaging |
Het |
Mc1r |
T |
C |
8: 124,134,376 (GRCm39) |
F43S |
probably damaging |
Het |
Mst1 |
A |
G |
9: 107,960,147 (GRCm39) |
E377G |
possibly damaging |
Het |
Nfatc3 |
T |
A |
8: 106,835,471 (GRCm39) |
I931N |
probably benign |
Het |
Nup188 |
G |
A |
2: 30,199,890 (GRCm39) |
D305N |
probably damaging |
Het |
Or8k35 |
T |
C |
2: 86,424,908 (GRCm39) |
D88G |
probably benign |
Het |
Pate3 |
T |
A |
9: 35,557,398 (GRCm39) |
H86L |
probably damaging |
Het |
Pla2r1 |
A |
T |
2: 60,353,217 (GRCm39) |
F248Y |
probably damaging |
Het |
Ppp1r37 |
A |
G |
7: 19,268,994 (GRCm39) |
S169P |
probably damaging |
Het |
Pramex1 |
A |
T |
X: 134,514,374 (GRCm39) |
L305Q |
probably damaging |
Het |
Prkcg |
G |
A |
7: 3,375,983 (GRCm39) |
V492I |
probably damaging |
Het |
Psmb11 |
T |
A |
14: 54,863,103 (GRCm39) |
V107E |
probably damaging |
Het |
Reg1 |
A |
G |
6: 78,404,013 (GRCm39) |
D60G |
probably null |
Het |
Shoc1 |
A |
T |
4: 59,076,500 (GRCm39) |
V481D |
possibly damaging |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Trim23 |
A |
G |
13: 104,324,131 (GRCm39) |
T177A |
probably benign |
Het |
Xkr4 |
A |
T |
1: 3,491,998 (GRCm39) |
F308L |
probably benign |
Het |
Xylt1 |
A |
G |
7: 117,074,748 (GRCm39) |
I122V |
probably benign |
Het |
Zan |
T |
C |
5: 137,462,201 (GRCm39) |
T993A |
unknown |
Het |
Zbtb20 |
T |
C |
16: 43,429,762 (GRCm39) |
L18P |
probably damaging |
Het |
Zfp292 |
T |
C |
4: 34,807,744 (GRCm39) |
I1767V |
probably benign |
Het |
Zfp292 |
G |
T |
4: 34,809,611 (GRCm39) |
S1144R |
possibly damaging |
Het |
Zfp317 |
T |
G |
9: 19,559,333 (GRCm39) |
W516G |
possibly damaging |
Het |
Zfp974 |
G |
A |
7: 27,611,677 (GRCm39) |
T16I |
possibly damaging |
Het |
|
Other mutations in Or5e1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02491:Or5e1
|
APN |
7 |
108,354,321 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03086:Or5e1
|
APN |
7 |
108,355,003 (GRCm39) |
utr 3 prime |
probably benign |
|
FR4340:Or5e1
|
UTSW |
7 |
108,354,161 (GRCm39) |
small insertion |
probably benign |
|
IGL02799:Or5e1
|
UTSW |
7 |
108,354,830 (GRCm39) |
missense |
probably benign |
|
R0218:Or5e1
|
UTSW |
7 |
108,354,781 (GRCm39) |
nonsense |
probably null |
|
R1103:Or5e1
|
UTSW |
7 |
108,354,090 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1251:Or5e1
|
UTSW |
7 |
108,354,114 (GRCm39) |
missense |
probably damaging |
0.99 |
R1450:Or5e1
|
UTSW |
7 |
108,354,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R1582:Or5e1
|
UTSW |
7 |
108,354,317 (GRCm39) |
missense |
probably benign |
0.04 |
R1608:Or5e1
|
UTSW |
7 |
108,354,309 (GRCm39) |
missense |
probably damaging |
0.99 |
R1726:Or5e1
|
UTSW |
7 |
108,354,215 (GRCm39) |
missense |
probably benign |
0.00 |
R1880:Or5e1
|
UTSW |
7 |
108,354,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R1881:Or5e1
|
UTSW |
7 |
108,354,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R2136:Or5e1
|
UTSW |
7 |
108,354,430 (GRCm39) |
missense |
possibly damaging |
0.58 |
R2216:Or5e1
|
UTSW |
7 |
108,354,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R4603:Or5e1
|
UTSW |
7 |
108,354,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R4881:Or5e1
|
UTSW |
7 |
108,354,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R5132:Or5e1
|
UTSW |
7 |
108,354,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R5426:Or5e1
|
UTSW |
7 |
108,354,924 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5679:Or5e1
|
UTSW |
7 |
108,354,203 (GRCm39) |
missense |
probably damaging |
0.97 |
R5848:Or5e1
|
UTSW |
7 |
108,354,781 (GRCm39) |
nonsense |
probably null |
|
R5911:Or5e1
|
UTSW |
7 |
108,354,882 (GRCm39) |
missense |
probably benign |
0.36 |
R6474:Or5e1
|
UTSW |
7 |
108,354,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R7016:Or5e1
|
UTSW |
7 |
108,354,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R7783:Or5e1
|
UTSW |
7 |
108,354,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R8113:Or5e1
|
UTSW |
7 |
108,354,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R8385:Or5e1
|
UTSW |
7 |
108,354,511 (GRCm39) |
nonsense |
probably null |
|
R9429:Or5e1
|
UTSW |
7 |
108,354,412 (GRCm39) |
missense |
probably damaging |
0.98 |
R9746:Or5e1
|
UTSW |
7 |
108,354,639 (GRCm39) |
missense |
probably benign |
|
Z1088:Or5e1
|
UTSW |
7 |
108,354,311 (GRCm39) |
missense |
probably benign |
0.13 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCTTCACACGCCAATGTAC -3'
(R):5'- GATCAGAAGCTGCCTCTCTTTG -3'
Sequencing Primer
(F):5'- CTTCCATTGGGCCAAAAATGCTG -3'
(R):5'- CAGAAGCTGCCTCTCTTTGTTGTG -3'
|
Posted On |
2015-04-29 |