Incidental Mutation 'R6200:Or5p58'
| ID |
503146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5p58
|
| Ensembl Gene |
ENSMUSG00000059031 |
| Gene Name |
olfactory receptor family 5 subfamily P member 58 |
| Synonyms |
Olfr482, MOR204-14, GA_x6K02T2PBJ9-10424354-10423383 |
| MMRRC Submission |
044340-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R6200 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
107693804-107694775 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
AACTCTGTCACT to AACT
at 107694732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081184]
[ENSMUST00000217304]
|
| AlphaFold |
Q8VG03 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000081184
|
| SMART Domains |
Protein: ENSMUSP00000079948
Gene: ENSMUSG00000059031
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
311 |
1.2e-52 |
PFAM |
|
Pfam:7tm_1
|
44 |
293 |
8.1e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207291
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000217304
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
91% (32/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,980,876 (GRCm39) |
Y54C |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,977,834 (GRCm39) |
H2719R |
probably damaging |
Het |
| Atraid |
A |
G |
5: 31,210,210 (GRCm39) |
N127D |
probably damaging |
Het |
| Capzb |
T |
C |
4: 139,007,324 (GRCm39) |
V145A |
probably benign |
Het |
| Catspere2 |
A |
G |
1: 177,939,124 (GRCm39) |
N666D |
possibly damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,682,073 (GRCm39) |
R174S |
probably damaging |
Het |
| Cldn17 |
A |
C |
16: 88,303,459 (GRCm39) |
L90R |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Fancc |
A |
C |
13: 63,508,062 (GRCm39) |
L158V |
probably damaging |
Het |
| Fcamr |
T |
C |
1: 130,730,927 (GRCm39) |
L60P |
probably benign |
Het |
| G6pd2 |
C |
T |
5: 61,967,214 (GRCm39) |
R330C |
probably benign |
Het |
| Gpr158 |
A |
T |
2: 21,404,227 (GRCm39) |
N333I |
probably damaging |
Het |
| Herpud2 |
A |
G |
9: 25,062,130 (GRCm39) |
Y45H |
probably damaging |
Het |
| Icam5 |
A |
G |
9: 20,950,045 (GRCm39) |
Y868C |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Homo |
| Luzp1 |
C |
A |
4: 136,268,577 (GRCm39) |
Q267K |
probably benign |
Het |
| Nkpd1 |
C |
A |
7: 19,258,528 (GRCm39) |
A769E |
possibly damaging |
Het |
| Pabpc4l |
C |
A |
3: 46,401,138 (GRCm39) |
V169L |
probably damaging |
Het |
| Pcdhga7 |
A |
G |
18: 37,849,135 (GRCm39) |
N381D |
probably damaging |
Het |
| Pcsk1 |
A |
T |
13: 75,263,374 (GRCm39) |
N372Y |
possibly damaging |
Het |
| Ppp1r21 |
C |
T |
17: 88,876,613 (GRCm39) |
T475M |
possibly damaging |
Het |
| Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
| Psd2 |
G |
A |
18: 36,139,776 (GRCm39) |
|
probably null |
Het |
| Psip1 |
T |
C |
4: 83,392,610 (GRCm39) |
K100E |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,053,111 (GRCm39) |
H1096R |
probably damaging |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
| Slc16a8 |
C |
T |
15: 79,137,137 (GRCm39) |
G91D |
probably damaging |
Het |
| Slc22a21 |
A |
T |
11: 53,848,864 (GRCm39) |
I296N |
probably damaging |
Het |
| Smad9 |
A |
G |
3: 54,696,607 (GRCm39) |
D224G |
probably benign |
Het |
| Tle2 |
G |
A |
10: 81,424,706 (GRCm39) |
V678M |
probably damaging |
Het |
| Tmc1 |
C |
T |
19: 20,766,954 (GRCm39) |
R749Q |
possibly damaging |
Het |
| Tmco3 |
T |
A |
8: 13,342,077 (GRCm39) |
|
probably null |
Het |
| Tspoap1 |
A |
G |
11: 87,652,529 (GRCm39) |
E101G |
possibly damaging |
Het |
| Zfp57 |
A |
T |
17: 37,321,303 (GRCm39) |
T386S |
probably benign |
Het |
|
| Other mutations in Or5p58 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01400:Or5p58
|
APN |
7 |
107,694,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01482:Or5p58
|
APN |
7 |
107,694,693 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01710:Or5p58
|
APN |
7 |
107,694,449 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02064:Or5p58
|
APN |
7 |
107,694,454 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02930:Or5p58
|
APN |
7 |
107,694,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03206:Or5p58
|
APN |
7 |
107,694,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03255:Or5p58
|
APN |
7 |
107,694,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0378:Or5p58
|
UTSW |
7 |
107,694,429 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0552:Or5p58
|
UTSW |
7 |
107,693,985 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1538:Or5p58
|
UTSW |
7 |
107,694,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1771:Or5p58
|
UTSW |
7 |
107,694,816 (GRCm39) |
splice site |
probably null |
|
|
R1939:Or5p58
|
UTSW |
7 |
107,694,348 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2258:Or5p58
|
UTSW |
7 |
107,694,402 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4169:Or5p58
|
UTSW |
7 |
107,694,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4170:Or5p58
|
UTSW |
7 |
107,694,280 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4485:Or5p58
|
UTSW |
7 |
107,694,222 (GRCm39) |
missense |
probably benign |
|
|
R4803:Or5p58
|
UTSW |
7 |
107,694,666 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4887:Or5p58
|
UTSW |
7 |
107,694,303 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5059:Or5p58
|
UTSW |
7 |
107,694,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5445:Or5p58
|
UTSW |
7 |
107,693,949 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5539:Or5p58
|
UTSW |
7 |
107,694,433 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5644:Or5p58
|
UTSW |
7 |
107,694,011 (GRCm39) |
nonsense |
probably null |
|
|
R7171:Or5p58
|
UTSW |
7 |
107,694,342 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8024:Or5p58
|
UTSW |
7 |
107,694,496 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8316:Or5p58
|
UTSW |
7 |
107,694,450 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9013:Or5p58
|
UTSW |
7 |
107,694,471 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9376:Or5p58
|
UTSW |
7 |
107,694,471 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
X0021:Or5p58
|
UTSW |
7 |
107,694,166 (GRCm39) |
missense |
probably benign |
0.20 |
|
Z1176:Or5p58
|
UTSW |
7 |
107,694,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGCCAGGAAGTTGATAAGC -3'
(R):5'- GAGTATAACATCCATTGTTTCTCCACC -3'
Sequencing Primer
(F):5'- CTGCCAGGAAGTTGATAAGCATATTG -3'
(R):5'- AACATCCATTGTTTCTCCACCTTTTG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation