Incidental Mutation 'IGL03143:Or8k20'
ID 410764
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8k20
Ensembl Gene ENSMUSG00000075193
Gene Name olfactory receptor family 8 subfamily K member 20
Synonyms Olfr1051, GA_x6K02T2Q125-47756192-47755266, MOR187-5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL03143
Quality Score
Status
Chromosome 2
Chromosomal Location 86105903-86106829 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86106580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 84 (N84D)
Ref Sequence ENSEMBL: ENSMUSP00000150061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099898] [ENSMUST00000216432] [ENSMUST00000217245] [ENSMUST00000217294]
AlphaFold Q7TR76
Predicted Effect probably benign
Transcript: ENSMUST00000099898
AA Change: N84D

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000097482
Gene: ENSMUSG00000075193
AA Change: N84D

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.8e-53 PFAM
Pfam:7tm_1 41 290 2.7e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216432
AA Change: N84D

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000217245
AA Change: N84D

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000217294
AA Change: N84D

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
Coding Region Coverage
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 T G 9: 121,738,333 (GRCm39) L236R probably damaging Het
Agbl1 C T 7: 76,069,793 (GRCm39) Q442* probably null Het
Ahrr G A 13: 74,405,614 (GRCm39) Q108* probably null Het
Ankrd23 T C 1: 36,570,726 (GRCm39) probably benign Het
Art5 A G 7: 101,747,104 (GRCm39) I225T probably damaging Het
Asxl3 T C 18: 22,656,031 (GRCm39) V1347A probably benign Het
Birc6 A G 17: 74,905,994 (GRCm39) M1326V possibly damaging Het
Bpifb6 A C 2: 153,744,655 (GRCm39) N32T probably damaging Het
Brip1 T A 11: 85,952,653 (GRCm39) T1043S possibly damaging Het
Cbx5 A T 15: 103,121,532 (GRCm39) V35E probably damaging Het
Ccdc175 T A 12: 72,182,832 (GRCm39) M396L probably benign Het
Ceacam3 G T 7: 16,892,045 (GRCm39) E263* probably null Het
Cyp4a12a A G 4: 115,159,200 (GRCm39) T157A probably benign Het
Dennd11 A T 6: 40,399,828 (GRCm39) probably benign Het
Derl3 T C 10: 75,730,324 (GRCm39) V129A possibly damaging Het
Dnajb1 T C 8: 84,335,103 (GRCm39) I48T probably damaging Het
Dop1b G A 16: 93,556,543 (GRCm39) E349K probably benign Het
Fkbp10 A T 11: 100,313,580 (GRCm39) I285F probably benign Het
Frrs1 A T 3: 116,692,836 (GRCm39) T37S probably damaging Het
Gata2 A G 6: 88,181,677 (GRCm39) Y377C probably damaging Het
Gm9789 T A 16: 88,954,883 (GRCm39) probably benign Het
Itpkb T A 1: 180,160,933 (GRCm39) V353D probably benign Het
Kcng4 T C 8: 120,352,509 (GRCm39) E467G probably damaging Het
Kdm3a A T 6: 71,573,845 (GRCm39) I906N probably damaging Het
Lama1 G A 17: 68,111,531 (GRCm39) G2261R probably damaging Het
Lamc1 A T 1: 153,208,020 (GRCm39) L89Q probably benign Het
Lef1 G T 3: 130,993,965 (GRCm39) E314* probably null Het
Lpin3 T C 2: 160,745,518 (GRCm39) probably benign Het
Mrtfb A G 16: 13,218,676 (GRCm39) N452D possibly damaging Het
Naaladl1 C T 19: 6,164,896 (GRCm39) T628I possibly damaging Het
Nell1 C T 7: 49,929,281 (GRCm39) Q259* probably null Het
Neu2 G T 1: 87,524,698 (GRCm39) E228* probably null Het
Or5b119 A T 19: 13,456,835 (GRCm39) H242Q probably damaging Het
Or5k15 A G 16: 58,709,824 (GRCm39) F253S probably damaging Het
Or8g21 T G 9: 38,906,732 (GRCm39) probably benign Het
Osbpl6 T A 2: 76,378,716 (GRCm39) D124E probably damaging Het
Palm T C 10: 79,652,617 (GRCm39) probably benign Het
Parp8 C A 13: 117,047,497 (GRCm39) probably benign Het
Pax7 A G 4: 139,556,798 (GRCm39) probably benign Het
Pcnx3 G A 19: 5,735,423 (GRCm39) R468W probably damaging Het
Pds5b T A 5: 150,702,722 (GRCm39) V818D probably damaging Het
Piezo2 C T 18: 63,241,147 (GRCm39) V694I probably damaging Het
Plk1 A G 7: 121,760,877 (GRCm39) probably benign Het
Polb T C 8: 23,130,367 (GRCm39) probably benign Het
Rad54b A G 4: 11,599,755 (GRCm39) T320A probably damaging Het
Reg3b G A 6: 78,349,183 (GRCm39) W103* probably null Het
Slc17a3 T G 13: 24,039,962 (GRCm39) probably null Het
Snrnp200 C T 2: 127,071,962 (GRCm39) probably benign Het
Stox2 T A 8: 47,646,839 (GRCm39) H207L possibly damaging Het
Tbx15 A C 3: 99,259,514 (GRCm39) M462L possibly damaging Het
Tcirg1 G A 19: 3,948,811 (GRCm39) T458I probably damaging Het
Tnfrsf25 A G 4: 152,201,384 (GRCm39) probably benign Het
Trank1 A G 9: 111,195,155 (GRCm39) K1060E probably damaging Het
Ttc16 T C 2: 32,664,457 (GRCm39) D3G possibly damaging Het
Vmn1r199 A C 13: 22,567,299 (GRCm39) N155H probably damaging Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Other mutations in Or8k20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01578:Or8k20 APN 2 86,106,085 (GRCm39) missense probably damaging 0.99
IGL02263:Or8k20 APN 2 86,106,546 (GRCm39) missense probably benign 0.01
R1182:Or8k20 UTSW 2 86,106,612 (GRCm39) missense probably damaging 0.98
R1475:Or8k20 UTSW 2 86,105,905 (GRCm39) makesense probably null
R1712:Or8k20 UTSW 2 86,106,337 (GRCm39) missense probably damaging 0.97
R1903:Or8k20 UTSW 2 86,106,190 (GRCm39) missense probably benign 0.00
R2097:Or8k20 UTSW 2 86,106,383 (GRCm39) nonsense probably null
R4680:Or8k20 UTSW 2 86,106,517 (GRCm39) missense possibly damaging 0.88
R4879:Or8k20 UTSW 2 86,106,107 (GRCm39) nonsense probably null
R5094:Or8k20 UTSW 2 86,106,384 (GRCm39) missense probably damaging 1.00
R6448:Or8k20 UTSW 2 86,106,691 (GRCm39) missense probably benign 0.07
R8250:Or8k20 UTSW 2 86,106,498 (GRCm39) missense probably damaging 1.00
R9525:Or8k20 UTSW 2 86,106,484 (GRCm39) missense probably benign 0.22
R9761:Or8k20 UTSW 2 86,106,150 (GRCm39) missense probably benign 0.06
X0064:Or8k20 UTSW 2 86,106,462 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02