Incidental Mutation 'R6410:Or7e177'
ID |
514579 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or7e177
|
Ensembl Gene |
ENSMUSG00000049028 |
Gene Name |
olfactory receptor family 7 subfamily E member 177 |
Synonyms |
Olfr873, GA_x6K02T2PVTD-14040245-14041204, MOR145-2 |
MMRRC Submission |
044383-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R6410 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
20211507-20212466 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 20211748 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 84
(I84N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153816
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053919]
[ENSMUST00000075717]
[ENSMUST00000215540]
|
AlphaFold |
E9PX82 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053919
AA Change: I81N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000054778 Gene: ENSMUSG00000049028 AA Change: I81N
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 damaging
Transcript: ENSMUST00000075717
AA Change: I85N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000075135 Gene: ENSMUSG00000049028 AA Change: I85N
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: ENSMUST00000212793
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213445
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215540
AA Change: I84N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216567
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217193
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahdc1 |
C |
T |
4: 132,790,210 (GRCm39) |
R484W |
probably damaging |
Het |
Arhgap24 |
T |
A |
5: 103,040,017 (GRCm39) |
I411N |
probably benign |
Het |
Armt1 |
A |
G |
10: 4,403,826 (GRCm39) |
S304G |
probably benign |
Het |
Atg9b |
T |
A |
5: 24,591,108 (GRCm39) |
N774I |
possibly damaging |
Het |
C1s1 |
C |
T |
6: 124,508,117 (GRCm39) |
C624Y |
probably damaging |
Het |
Camsap2 |
C |
A |
1: 136,273,182 (GRCm39) |
|
probably benign |
Het |
Cd109 |
T |
C |
9: 78,564,798 (GRCm39) |
S248P |
probably benign |
Het |
Cd28 |
A |
T |
1: 60,804,442 (GRCm39) |
H140L |
probably benign |
Het |
Csmd3 |
G |
A |
15: 48,536,803 (GRCm39) |
T133I |
probably damaging |
Het |
D430041D05Rik |
A |
T |
2: 103,998,548 (GRCm39) |
|
probably null |
Het |
Defb47 |
T |
C |
14: 63,238,442 (GRCm39) |
V56A |
probably benign |
Het |
Fxyd5 |
T |
C |
7: 30,734,831 (GRCm39) |
E132G |
probably damaging |
Het |
H2-M2 |
A |
G |
17: 37,794,104 (GRCm39) |
V40A |
probably damaging |
Het |
H2-Q7 |
T |
C |
17: 35,659,152 (GRCm39) |
L201P |
probably benign |
Het |
Klra9 |
T |
G |
6: 130,155,957 (GRCm39) |
D266A |
probably damaging |
Het |
Meioc |
A |
G |
11: 102,565,860 (GRCm39) |
N492S |
probably benign |
Het |
Nmt2 |
A |
G |
2: 3,317,215 (GRCm39) |
E341G |
probably damaging |
Het |
Nutm1 |
A |
C |
2: 112,079,074 (GRCm39) |
V947G |
possibly damaging |
Het |
Oga |
T |
C |
19: 45,764,484 (GRCm39) |
|
probably null |
Het |
Pm20d1 |
G |
A |
1: 131,726,334 (GRCm39) |
G57D |
probably benign |
Het |
Pnpla5 |
A |
G |
15: 84,004,880 (GRCm39) |
I157T |
probably damaging |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Sv2b |
A |
T |
7: 74,789,857 (GRCm39) |
I392N |
probably benign |
Het |
Wfdc8 |
T |
A |
2: 164,439,663 (GRCm39) |
I240F |
probably benign |
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 |
IGL02416:Or7e177
|
APN |
9 |
20,211,541 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGTCTCAGAATTCCATCTCATGAG -3'
(R):5'- CACAGAGGCGAGGATTCATG -3'
Sequencing Primer
(F):5'- GAGAATCTCTGATGATCCAGAACTGC -3'
(R):5'- ATTCATGATGAGTGAGTAATGCAGTG -3'
|
Posted On |
2018-05-04 |