Incidental Mutation 'R1126:Or5p53'
| ID |
96166 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5p53
|
| Ensembl Gene |
ENSMUSG00000095212 |
| Gene Name |
olfactory receptor family 5 subfamily P member 53 |
| Synonyms |
GA_x6K02T2PBJ9-10262759-10263691, Olfr473, MOR204-4 |
| MMRRC Submission |
039199-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R1126 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
107532729-107533661 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 107533578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 284
(M284L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084761]
[ENSMUST00000217618]
|
| AlphaFold |
Q8VG44 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084761
AA Change: M284L
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000081816
Gene: ENSMUSG00000095212
AA Change: M284L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
6.4e-49 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.5e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210626
AA Change: M284L
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217618
AA Change: M284L
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
| 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 |
|---|
| Abcc8 |
T |
C |
7: 45,759,062 (GRCm39) |
E1226G |
probably damaging |
Het |
| Arhgef40 |
G |
T |
14: 52,234,583 (GRCm39) |
S962I |
probably damaging |
Het |
| Atp9b |
A |
T |
18: 80,822,169 (GRCm39) |
M477K |
probably damaging |
Het |
| Enpp2 |
C |
T |
15: 54,770,222 (GRCm39) |
|
probably null |
Het |
| Ephb3 |
T |
A |
16: 21,041,226 (GRCm39) |
M727K |
possibly damaging |
Het |
| Exo5 |
A |
T |
4: 120,779,322 (GRCm39) |
I181N |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,163,112 (GRCm39) |
|
probably null |
Het |
| Gas6 |
T |
C |
8: 13,533,700 (GRCm39) |
N103S |
probably benign |
Het |
| Gm11596 |
A |
T |
11: 99,683,699 (GRCm39) |
C140* |
probably null |
Het |
| Il6st |
T |
C |
13: 112,640,266 (GRCm39) |
Y681H |
probably damaging |
Het |
| Itih4 |
T |
C |
14: 30,611,918 (GRCm39) |
|
probably null |
Het |
| Kdm5b |
C |
T |
1: 134,541,729 (GRCm39) |
A768V |
possibly damaging |
Het |
| Krt87 |
A |
T |
15: 101,385,363 (GRCm39) |
N336K |
probably damaging |
Het |
| Mfsd6 |
A |
G |
1: 52,748,670 (GRCm39) |
V65A |
probably benign |
Het |
| Nipsnap1 |
A |
G |
11: 4,834,081 (GRCm39) |
N90S |
probably benign |
Het |
| Nlrp9a |
C |
A |
7: 26,260,166 (GRCm39) |
D640E |
probably benign |
Het |
| Or11h4b |
C |
T |
14: 50,918,720 (GRCm39) |
A124T |
possibly damaging |
Het |
| Or1l4 |
A |
T |
2: 37,092,113 (GRCm39) |
M287L |
probably benign |
Het |
| Or2j3 |
A |
G |
17: 38,615,579 (GRCm39) |
C258R |
probably damaging |
Het |
| Parp9 |
G |
A |
16: 35,768,110 (GRCm39) |
V97I |
possibly damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,458,306 (GRCm39) |
T12A |
possibly damaging |
Het |
| Penk |
T |
C |
4: 4,138,119 (GRCm39) |
T9A |
probably benign |
Het |
| Pilrb2 |
T |
C |
5: 137,869,222 (GRCm39) |
D126G |
probably damaging |
Het |
| Pkdrej |
A |
T |
15: 85,700,515 (GRCm39) |
V1807E |
probably damaging |
Het |
| Ppp1r9a |
A |
G |
6: 4,906,795 (GRCm39) |
E450G |
possibly damaging |
Het |
| Rag1 |
T |
C |
2: 101,473,034 (GRCm39) |
R703G |
probably damaging |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Rmdn3 |
T |
C |
2: 118,984,476 (GRCm39) |
D92G |
probably benign |
Het |
| Rp1l1 |
G |
A |
14: 64,267,918 (GRCm39) |
G1168D |
probably damaging |
Het |
| Saxo1 |
T |
A |
4: 86,397,224 (GRCm39) |
T105S |
probably benign |
Het |
| Slc39a2 |
G |
A |
14: 52,131,602 (GRCm39) |
G58R |
probably damaging |
Het |
| Tbx6 |
C |
T |
7: 126,383,891 (GRCm39) |
T315I |
probably damaging |
Het |
| Tcf12 |
A |
G |
9: 71,907,715 (GRCm39) |
M99T |
probably benign |
Het |
| Tdrd3 |
A |
G |
14: 87,718,210 (GRCm39) |
D197G |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,936,357 (GRCm39) |
N193S |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,680,347 (GRCm39) |
|
probably benign |
Het |
| Vmn1r225 |
A |
G |
17: 20,722,588 (GRCm39) |
I10V |
probably benign |
Het |
| Zp3r |
A |
G |
1: 130,546,079 (GRCm39) |
L77P |
probably damaging |
Het |
|
| Other mutations in Or5p53 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02354:Or5p53
|
APN |
7 |
107,533,484 (GRCm39) |
nonsense |
probably null |
|
|
IGL02361:Or5p53
|
APN |
7 |
107,533,484 (GRCm39) |
nonsense |
probably null |
|
|
IGL03228:Or5p53
|
APN |
7 |
107,533,330 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0255:Or5p53
|
UTSW |
7 |
107,533,375 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0306:Or5p53
|
UTSW |
7 |
107,532,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1313:Or5p53
|
UTSW |
7 |
107,532,975 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1313:Or5p53
|
UTSW |
7 |
107,532,975 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1860:Or5p53
|
UTSW |
7 |
107,533,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2060:Or5p53
|
UTSW |
7 |
107,532,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2386:Or5p53
|
UTSW |
7 |
107,533,480 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4324:Or5p53
|
UTSW |
7 |
107,532,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4847:Or5p53
|
UTSW |
7 |
107,533,034 (GRCm39) |
nonsense |
probably null |
|
|
R5926:Or5p53
|
UTSW |
7 |
107,533,110 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6964:Or5p53
|
UTSW |
7 |
107,532,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8024:Or5p53
|
UTSW |
7 |
107,533,645 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8377:Or5p53
|
UTSW |
7 |
107,532,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9327:Or5p53
|
UTSW |
7 |
107,533,019 (GRCm39) |
nonsense |
probably null |
|
|
X0063:Or5p53
|
UTSW |
7 |
107,533,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCTGAATATGCGCTCCACCGAG -3'
(R):5'- TGCATGATGCAGAGGATCACCAC -3'
Sequencing Primer
(F):5'- CGAGGGTCGCCACAAGG -3'
(R):5'- GAAATCTATCCTGTTTCTCCAAGAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation