Incidental Mutation 'IGL02416:Or7e177'
ID |
292437 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or7e177
|
Ensembl Gene |
ENSMUSG00000049028 |
Gene Name |
olfactory receptor family 7 subfamily E member 177 |
Synonyms |
Olfr873, GA_x6K02T2PVTD-14040245-14041204, MOR145-2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
IGL02416
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
20211507-20212466 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 20211541 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 15
(E15V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153816
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053919]
[ENSMUST00000075717]
[ENSMUST00000215540]
|
AlphaFold |
E9PX82 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053919
AA Change: E12V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000054778 Gene: ENSMUSG00000049028 AA Change: E12V
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
41 |
317 |
1.7e-52 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
45 |
315 |
1.6e-8 |
PFAM |
Pfam:7tm_1
|
51 |
300 |
3e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000075717
AA Change: E16V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000075135 Gene: ENSMUSG00000049028 AA Change: E16V
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
45 |
321 |
6.2e-43 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
49 |
309 |
3e-8 |
PFAM |
Pfam:7tm_1
|
55 |
304 |
1.5e-20 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212393
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212793
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213057
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213445
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217193
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215540
AA Change: E15V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216567
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
T |
C |
14: 68,810,282 (GRCm39) |
N227S |
probably null |
Het |
Adgrf5 |
T |
G |
17: 43,755,871 (GRCm39) |
|
probably null |
Het |
Arid2 |
G |
A |
15: 96,247,936 (GRCm39) |
G116D |
possibly damaging |
Het |
Arsa |
T |
A |
15: 89,358,991 (GRCm39) |
H225L |
probably damaging |
Het |
Atf6 |
T |
A |
1: 170,574,726 (GRCm39) |
K571* |
probably null |
Het |
Bicdl1 |
A |
C |
5: 115,801,944 (GRCm39) |
L38R |
probably damaging |
Het |
Cct4 |
T |
C |
11: 22,952,868 (GRCm39) |
S515P |
probably damaging |
Het |
Celsr3 |
A |
C |
9: 108,709,318 (GRCm39) |
D1388A |
probably damaging |
Het |
Clca3a2 |
T |
C |
3: 144,790,777 (GRCm39) |
T432A |
probably benign |
Het |
Des |
T |
A |
1: 75,339,372 (GRCm39) |
|
probably null |
Het |
Dock11 |
T |
A |
X: 35,283,739 (GRCm39) |
V1119E |
probably damaging |
Het |
Dysf |
A |
G |
6: 84,169,896 (GRCm39) |
N1763S |
possibly damaging |
Het |
Emilin1 |
A |
G |
5: 31,075,132 (GRCm39) |
S458G |
possibly damaging |
Het |
Fhdc1 |
T |
G |
3: 84,352,535 (GRCm39) |
M897L |
probably benign |
Het |
Foxj1 |
T |
C |
11: 116,222,829 (GRCm39) |
S325G |
probably benign |
Het |
Gm5407 |
A |
G |
16: 49,117,250 (GRCm39) |
|
noncoding transcript |
Het |
Gm6576 |
T |
C |
15: 27,026,073 (GRCm39) |
|
noncoding transcript |
Het |
Hells |
G |
A |
19: 38,953,071 (GRCm39) |
S743N |
probably benign |
Het |
Ighv2-9-1 |
A |
T |
12: 113,733,731 (GRCm39) |
L30Q |
probably damaging |
Het |
Iqgap1 |
A |
T |
7: 80,375,786 (GRCm39) |
L1363H |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,299,977 (GRCm39) |
D3025G |
probably damaging |
Het |
Mef2d |
C |
T |
3: 88,063,809 (GRCm39) |
R79C |
probably damaging |
Het |
Mical1 |
G |
T |
10: 41,360,806 (GRCm39) |
|
probably null |
Het |
Micu2 |
A |
T |
14: 58,161,422 (GRCm39) |
V300E |
probably damaging |
Het |
Mmgt2 |
T |
C |
11: 62,555,703 (GRCm39) |
L17P |
probably damaging |
Het |
Or4p21 |
A |
G |
2: 88,277,174 (GRCm39) |
I36T |
probably benign |
Het |
Or7c19 |
T |
A |
8: 85,957,662 (GRCm39) |
C179* |
probably null |
Het |
Pigb |
A |
G |
9: 72,924,714 (GRCm39) |
S482P |
probably benign |
Het |
Pkd1l2 |
T |
A |
8: 117,767,574 (GRCm39) |
T1239S |
possibly damaging |
Het |
Pou1f1 |
T |
C |
16: 65,328,842 (GRCm39) |
I187T |
probably damaging |
Het |
Prox1 |
C |
T |
1: 189,893,327 (GRCm39) |
A373T |
probably benign |
Het |
Rabgap1 |
T |
C |
2: 37,451,962 (GRCm39) |
I954T |
probably benign |
Het |
Scube3 |
T |
G |
17: 28,383,110 (GRCm39) |
C429W |
probably damaging |
Het |
Slco6b1 |
T |
A |
1: 96,852,058 (GRCm39) |
|
noncoding transcript |
Het |
Strc |
A |
T |
2: 121,199,539 (GRCm39) |
I1300N |
probably damaging |
Het |
Tdrd6 |
T |
A |
17: 43,935,629 (GRCm39) |
R1806S |
probably benign |
Het |
Trpm8 |
T |
A |
1: 88,288,438 (GRCm39) |
L860Q |
probably damaging |
Het |
Vmn1r8 |
A |
G |
6: 57,013,605 (GRCm39) |
R219G |
probably damaging |
Het |
Wdr48 |
A |
G |
9: 119,753,826 (GRCm39) |
S649G |
probably damaging |
Het |
|
Other mutations in Or7e177 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02122:Or7e177
|
APN |
9 |
20,211,880 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02268:Or7e177
|
APN |
9 |
20,211,588 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03124:Or7e177
|
APN |
9 |
20,212,459 (GRCm39) |
missense |
probably benign |
0.00 |
R0147:Or7e177
|
UTSW |
9 |
20,212,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R0148:Or7e177
|
UTSW |
9 |
20,212,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R0266:Or7e177
|
UTSW |
9 |
20,212,454 (GRCm39) |
missense |
probably benign |
0.01 |
R0831:Or7e177
|
UTSW |
9 |
20,211,861 (GRCm39) |
missense |
probably benign |
0.20 |
R1456:Or7e177
|
UTSW |
9 |
20,212,134 (GRCm39) |
missense |
probably benign |
0.35 |
R1894:Or7e177
|
UTSW |
9 |
20,211,633 (GRCm39) |
missense |
probably benign |
0.23 |
R1928:Or7e177
|
UTSW |
9 |
20,212,354 (GRCm39) |
missense |
probably benign |
0.12 |
R2135:Or7e177
|
UTSW |
9 |
20,211,593 (GRCm39) |
missense |
probably benign |
0.00 |
R2379:Or7e177
|
UTSW |
9 |
20,211,963 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2911:Or7e177
|
UTSW |
9 |
20,211,775 (GRCm39) |
missense |
possibly damaging |
0.60 |
R3788:Or7e177
|
UTSW |
9 |
20,211,666 (GRCm39) |
missense |
probably benign |
0.13 |
R4657:Or7e177
|
UTSW |
9 |
20,211,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R5754:Or7e177
|
UTSW |
9 |
20,212,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R6291:Or7e177
|
UTSW |
9 |
20,211,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R6410:Or7e177
|
UTSW |
9 |
20,211,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R7014:Or7e177
|
UTSW |
9 |
20,211,959 (GRCm39) |
nonsense |
probably null |
|
R7521:Or7e177
|
UTSW |
9 |
20,212,036 (GRCm39) |
missense |
probably benign |
0.00 |
R8201:Or7e177
|
UTSW |
9 |
20,212,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R8355:Or7e177
|
UTSW |
9 |
20,211,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R8455:Or7e177
|
UTSW |
9 |
20,211,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R8523:Or7e177
|
UTSW |
9 |
20,212,093 (GRCm39) |
missense |
probably benign |
0.10 |
R8874:Or7e177
|
UTSW |
9 |
20,212,069 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9283:Or7e177
|
UTSW |
9 |
20,212,419 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9397:Or7e177
|
UTSW |
9 |
20,211,748 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9595:Or7e177
|
UTSW |
9 |
20,211,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |