Incidental Mutation 'R0989:Or52k2'
| ID |
97488 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or52k2
|
| Ensembl Gene |
ENSMUSG00000073973 |
| Gene Name |
olfactory receptor family 52 subfamily K member 2 |
| Synonyms |
GA_x6K02T2PBJ9-5323062-5324015, Olfr552, MOR28-1 |
| MMRRC Submission |
039109-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
R0989 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
102253563-102254516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 102253690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 43
(G43D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098223]
[ENSMUST00000215712]
|
| AlphaFold |
E9Q545 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098223
AA Change: G43D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095826
Gene: ENSMUSG00000073973
AA Change: G43D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
312 |
6e-118 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
270 |
4.4e-8 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
9.6e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215712
AA Change: G43D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
A |
G |
7: 131,030,273 (GRCm39) |
D140G |
probably damaging |
Het |
| Atp7b |
A |
G |
8: 22,518,710 (GRCm39) |
S43P |
possibly damaging |
Het |
| C4bp |
G |
A |
1: 130,570,790 (GRCm39) |
T262I |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,370,289 (GRCm39) |
Y169H |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,915,480 (GRCm39) |
E831G |
probably benign |
Het |
| Celsr2 |
A |
C |
3: 108,310,588 (GRCm39) |
M1498R |
probably benign |
Het |
| Crim1 |
T |
C |
17: 78,508,373 (GRCm39) |
V59A |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,875,002 (GRCm39) |
I2560V |
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,739,155 (GRCm39) |
M376K |
possibly damaging |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fbxw11 |
T |
C |
11: 32,685,149 (GRCm39) |
V328A |
probably benign |
Het |
| Gm4846 |
G |
A |
1: 166,314,689 (GRCm39) |
S318L |
possibly damaging |
Het |
| Golm1 |
A |
T |
13: 59,787,997 (GRCm39) |
Y301N |
probably benign |
Het |
| Ipo8 |
T |
C |
6: 148,698,180 (GRCm39) |
T614A |
probably benign |
Het |
| Klhl33 |
T |
A |
14: 51,129,279 (GRCm39) |
Y390F |
probably damaging |
Het |
| Minar1 |
T |
A |
9: 89,484,088 (GRCm39) |
K436N |
probably damaging |
Het |
| Mlh3 |
A |
G |
12: 85,316,169 (GRCm39) |
S6P |
probably benign |
Het |
| Neurod2 |
A |
G |
11: 98,218,805 (GRCm39) |
S120P |
probably damaging |
Het |
| Nfkb1 |
A |
G |
3: 135,295,157 (GRCm39) |
S896P |
probably benign |
Het |
| Nr3c2 |
T |
C |
8: 77,914,193 (GRCm39) |
Y687H |
probably damaging |
Het |
| Or13a24 |
A |
C |
7: 140,154,200 (GRCm39) |
I45L |
probably damaging |
Het |
| Parp3 |
C |
T |
9: 106,350,281 (GRCm39) |
|
probably null |
Het |
| Pcolce2 |
T |
A |
9: 95,520,776 (GRCm39) |
M51K |
probably benign |
Het |
| Pnoc |
T |
C |
14: 65,642,317 (GRCm39) |
K149E |
probably damaging |
Het |
| Polr1b |
T |
G |
2: 128,967,997 (GRCm39) |
V1130G |
probably damaging |
Het |
| Prcp |
A |
T |
7: 92,559,424 (GRCm39) |
I163F |
probably benign |
Het |
| Sez6l2 |
A |
G |
7: 126,559,016 (GRCm39) |
D361G |
probably damaging |
Het |
| Slc4a9 |
T |
A |
18: 36,669,920 (GRCm39) |
L785* |
probably null |
Het |
| Ssna1 |
T |
C |
2: 25,161,575 (GRCm39) |
T91A |
probably benign |
Het |
| St18 |
A |
G |
1: 6,898,105 (GRCm39) |
T636A |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,136,736 (GRCm39) |
A1250T |
probably damaging |
Het |
| Tnk2 |
A |
G |
16: 32,499,176 (GRCm39) |
M815V |
probably damaging |
Het |
| Tspan31 |
T |
A |
10: 126,904,196 (GRCm39) |
H167L |
probably damaging |
Het |
| Tspoap1 |
T |
A |
11: 87,656,649 (GRCm39) |
C287S |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,685,599 (GRCm39) |
F2241S |
possibly damaging |
Het |
|
| Other mutations in Or52k2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00937:Or52k2
|
APN |
7 |
102,253,564 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
IGL03061:Or52k2
|
APN |
7 |
102,253,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1513:Or52k2
|
UTSW |
7 |
102,254,509 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1969:Or52k2
|
UTSW |
7 |
102,253,777 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3177:Or52k2
|
UTSW |
7 |
102,253,783 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3277:Or52k2
|
UTSW |
7 |
102,253,783 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4019:Or52k2
|
UTSW |
7 |
102,253,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4028:Or52k2
|
UTSW |
7 |
102,254,500 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5216:Or52k2
|
UTSW |
7 |
102,254,028 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5444:Or52k2
|
UTSW |
7 |
102,254,076 (GRCm39) |
nonsense |
probably null |
|
|
R5461:Or52k2
|
UTSW |
7 |
102,253,615 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7706:Or52k2
|
UTSW |
7 |
102,253,853 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8348:Or52k2
|
UTSW |
7 |
102,254,207 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8448:Or52k2
|
UTSW |
7 |
102,254,207 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8919:Or52k2
|
UTSW |
7 |
102,253,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8933:Or52k2
|
UTSW |
7 |
102,253,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9009:Or52k2
|
UTSW |
7 |
102,253,642 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9139:Or52k2
|
UTSW |
7 |
102,254,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAATCCCTCTGTACTCCAGATGACC -3'
(R):5'- GATTTCCCGATCCCTGAACCAGAAC -3'
Sequencing Primer
(F):5'- TGAACACTGACTCTGCTGATAG -3'
(R):5'- CAGGGAGAGCATTTTGGGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation