Incidental Mutation 'R4260:Or52n5'
| ID |
322609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or52n5
|
| Ensembl Gene |
ENSMUSG00000073916 |
| Gene Name |
olfactory receptor family 52 subfamily N member 5 |
| Synonyms |
GA_x6K02T2PBJ9-7567376-7568329, Olfr669, MOR34-6 |
| MMRRC Submission |
041073-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R4260 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
104587735-104588688 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 104587803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 23
(E23D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098164]
[ENSMUST00000210138]
[ENSMUST00000214260]
|
| AlphaFold |
Q8VGU9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098164
AA Change: E23D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095767
Gene: ENSMUSG00000073916
AA Change: E23D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
313 |
8.7e-103 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
209 |
1.9e-10 |
PFAM |
|
Pfam:7tm_1
|
43 |
295 |
2.7e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210138
AA Change: E23D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211559
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214260
AA Change: E23D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.3623 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
98% (50/51) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
G |
A |
18: 80,180,742 (GRCm39) |
S52L |
possibly damaging |
Het |
| Best3 |
A |
T |
10: 116,860,131 (GRCm39) |
M464L |
probably benign |
Het |
| Ccdc83 |
T |
G |
7: 89,877,599 (GRCm39) |
D281A |
possibly damaging |
Het |
| Ccnf |
G |
A |
17: 24,445,741 (GRCm39) |
P502S |
probably damaging |
Het |
| Cd109 |
T |
A |
9: 78,543,745 (GRCm39) |
S96R |
possibly damaging |
Het |
| Cep290 |
A |
C |
10: 100,350,354 (GRCm39) |
E649D |
probably damaging |
Het |
| Cntnap5a |
G |
T |
1: 116,374,325 (GRCm39) |
A946S |
probably benign |
Het |
| Csnk2a2 |
A |
T |
8: 96,184,027 (GRCm39) |
D177E |
probably benign |
Het |
| Cyld |
T |
C |
8: 89,468,019 (GRCm39) |
S551P |
probably damaging |
Het |
| Degs1 |
A |
T |
1: 182,106,806 (GRCm39) |
I151N |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,520,883 (GRCm39) |
I1901V |
probably benign |
Het |
| Eif2ak3 |
G |
A |
6: 70,866,497 (GRCm39) |
R597H |
probably damaging |
Het |
| Epg5 |
A |
T |
18: 78,002,336 (GRCm39) |
H585L |
possibly damaging |
Het |
| Epg5 |
G |
C |
18: 78,058,914 (GRCm39) |
W1889C |
probably damaging |
Het |
| Fam220a |
G |
C |
5: 143,548,762 (GRCm39) |
R58P |
possibly damaging |
Het |
| Gemin5 |
G |
A |
11: 58,059,185 (GRCm39) |
A32V |
probably damaging |
Het |
| Gm11189 |
A |
C |
11: 53,091,703 (GRCm39) |
|
noncoding transcript |
Het |
| Grb2 |
A |
G |
11: 115,540,642 (GRCm39) |
I85T |
probably damaging |
Het |
| Herc1 |
CTGAGGACTCTTTG |
CTG |
9: 66,355,630 (GRCm39) |
|
probably null |
Het |
| Ide |
A |
C |
19: 37,306,585 (GRCm39) |
S63A |
unknown |
Het |
| Kel |
A |
T |
6: 41,663,357 (GRCm39) |
|
probably benign |
Het |
| Kifap3 |
C |
A |
1: 163,689,597 (GRCm39) |
T527K |
probably damaging |
Het |
| Klra10 |
A |
G |
6: 130,249,644 (GRCm39) |
W214R |
probably damaging |
Het |
| Luc7l3 |
A |
T |
11: 94,186,876 (GRCm39) |
|
probably benign |
Het |
| Mrpl4 |
A |
G |
9: 20,918,988 (GRCm39) |
E211G |
possibly damaging |
Het |
| Or4k39 |
T |
A |
2: 111,238,850 (GRCm39) |
|
noncoding transcript |
Het |
| Pbld2 |
T |
C |
10: 62,860,186 (GRCm39) |
|
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,593,627 (GRCm39) |
|
probably null |
Het |
| Ppcs |
A |
G |
4: 119,279,106 (GRCm39) |
F149L |
probably damaging |
Het |
| Ptpdc1 |
A |
G |
13: 48,733,234 (GRCm39) |
M802T |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,083,280 (GRCm39) |
F909S |
possibly damaging |
Het |
| Raph1 |
A |
T |
1: 60,542,124 (GRCm39) |
M330K |
possibly damaging |
Het |
| Rprd1a |
G |
A |
18: 24,621,352 (GRCm39) |
R276C |
possibly damaging |
Het |
| Scg3 |
A |
G |
9: 75,558,979 (GRCm39) |
Y406H |
probably damaging |
Het |
| Setdb1 |
G |
A |
3: 95,234,808 (GRCm39) |
S965F |
probably damaging |
Het |
| Sgo2b |
A |
T |
8: 64,381,330 (GRCm39) |
F501I |
probably benign |
Het |
| Slc38a4 |
A |
G |
15: 96,896,374 (GRCm39) |
Y498H |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,939,686 (GRCm39) |
L150P |
probably damaging |
Het |
| Spata17 |
T |
A |
1: 186,780,677 (GRCm39) |
T357S |
possibly damaging |
Het |
| Tmt1a |
A |
G |
15: 100,210,951 (GRCm39) |
D141G |
probably benign |
Het |
| Zap70 |
T |
A |
1: 36,818,189 (GRCm39) |
|
probably benign |
Het |
| Zfp985 |
G |
A |
4: 147,668,029 (GRCm39) |
C299Y |
probably damaging |
Het |
|
| Other mutations in Or52n5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01527:Or52n5
|
APN |
7 |
104,588,198 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01677:Or52n5
|
APN |
7 |
104,587,852 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01900:Or52n5
|
APN |
7 |
104,588,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02270:Or52n5
|
APN |
7 |
104,588,576 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0482:Or52n5
|
UTSW |
7 |
104,588,021 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0970:Or52n5
|
UTSW |
7 |
104,588,284 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4845:Or52n5
|
UTSW |
7 |
104,588,570 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4947:Or52n5
|
UTSW |
7 |
104,587,949 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5438:Or52n5
|
UTSW |
7 |
104,588,344 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5735:Or52n5
|
UTSW |
7 |
104,587,966 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5943:Or52n5
|
UTSW |
7 |
104,587,850 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6435:Or52n5
|
UTSW |
7 |
104,588,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6942:Or52n5
|
UTSW |
7 |
104,588,104 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7061:Or52n5
|
UTSW |
7 |
104,587,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7122:Or52n5
|
UTSW |
7 |
104,588,405 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7378:Or52n5
|
UTSW |
7 |
104,588,638 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7898:Or52n5
|
UTSW |
7 |
104,588,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8260:Or52n5
|
UTSW |
7 |
104,587,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8478:Or52n5
|
UTSW |
7 |
104,588,477 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9289:Or52n5
|
UTSW |
7 |
104,587,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9356:Or52n5
|
UTSW |
7 |
104,588,373 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9558:Or52n5
|
UTSW |
7 |
104,588,615 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9607:Or52n5
|
UTSW |
7 |
104,588,207 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGATCCTACTCATAAGTGTAATTCC -3'
(R):5'- ATCTGAACTAGGCAAGCAGTG -3'
Sequencing Primer
(F):5'- CTCAGGATAGAGTCTTCTGGA -3'
(R):5'- GGCAAGCAGTGAAGTTAATTTCC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation