Incidental Mutation 'R8703:Or8k28'
ID 669136
Institutional Source Beutler Lab
Gene Symbol Or8k28
Ensembl Gene ENSMUSG00000075181
Gene Name olfactory receptor family 8 subfamily K member 28
Synonyms Olfr1066, MOR188-8, MOR256-52P, GA_x6K02T2Q125-47925557-47924616
MMRRC Submission 068557-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R8703 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 86285672-86286613 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 86286244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 124 (V124L)
Ref Sequence ENSEMBL: ENSMUSP00000097470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099885]
AlphaFold A2AK62
Predicted Effect possibly damaging
Transcript: ENSMUST00000099885
AA Change: V124L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097470
Gene: ENSMUSG00000075181
AA Change: V124L

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.1e-50 PFAM
Pfam:7TM_GPCR_Srsx 35 172 1.9e-6 PFAM
Pfam:7tm_1 41 290 1.3e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (44/44)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G A 13: 81,676,792 (GRCm39) T2013I probably damaging Het
Ak9 A T 10: 41,201,120 (GRCm39) N137Y Het
Apol10b T A 15: 77,472,897 (GRCm39) E52D probably damaging Het
Calr3 A T 8: 73,192,291 (GRCm39) Y128N probably damaging Het
Dnah14 T A 1: 181,493,576 (GRCm39) L1669* probably null Het
Dppa3 A T 6: 122,605,737 (GRCm39) D97V probably damaging Het
Dync1li1 C A 9: 114,552,329 (GRCm39) P490T probably damaging Het
Eya4 A G 10: 23,039,340 (GRCm39) S85P probably benign Het
Fpr-rs4 T A 17: 18,242,332 (GRCm39) I113N probably damaging Het
Fryl T C 5: 73,247,997 (GRCm39) D1040G probably damaging Het
Fsip2 A T 2: 82,821,871 (GRCm39) D5868V probably damaging Het
Gpr75 A C 11: 30,841,890 (GRCm39) Q265P probably damaging Het
Iqcm G T 8: 76,615,271 (GRCm39) G451C probably damaging Het
Lgr5 A G 10: 115,288,610 (GRCm39) L678P probably benign Het
Mcm9 G A 10: 53,506,073 (GRCm39) P67L probably damaging Het
Naalad2 A C 9: 18,290,008 (GRCm39) Y207D probably damaging Het
Nrap C T 19: 56,323,703 (GRCm39) D1325N probably damaging Het
Nup133 A G 8: 124,643,021 (GRCm39) probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or4b1b T A 2: 90,126,837 (GRCm39) I123F probably damaging Het
Or9i14 G T 19: 13,792,105 (GRCm39) P283H probably damaging Het
Per2 T A 1: 91,351,767 (GRCm39) N913I possibly damaging Het
Rab9 C T X: 165,240,754 (GRCm39) D186N probably benign Het
Reps1 C T 10: 17,968,990 (GRCm39) R183C probably damaging Het
Rims1 A T 1: 22,496,137 (GRCm39) C134S Het
Rpl10-ps3 A G 9: 50,256,184 (GRCm39) S20P probably benign Het
Sash1 C A 10: 8,605,595 (GRCm39) G932C probably damaging Het
Sema4d T C 13: 51,854,959 (GRCm39) Q46R Het
Sh3d19 A G 3: 86,014,568 (GRCm39) E453G probably damaging Het
Sirt6 A G 10: 81,461,548 (GRCm39) probably benign Het
Sis A T 3: 72,867,657 (GRCm39) F129L probably damaging Het
Skint5 T A 4: 113,733,207 (GRCm39) I399F unknown Het
Slc22a7 T C 17: 46,744,951 (GRCm39) D365G probably damaging Het
Slc6a12 A G 6: 121,324,447 (GRCm39) M38V probably benign Het
Slc9b2 C A 3: 135,031,924 (GRCm39) Y261* probably null Het
Spata21 A G 4: 140,832,218 (GRCm39) I460V probably benign Het
Tes C G 6: 17,099,788 (GRCm39) P261R probably damaging Het
Tex15 T C 8: 34,062,724 (GRCm39) L718P probably benign Het
Tmem135 G A 7: 88,808,170 (GRCm39) A202V probably benign Het
Usp29 T C 7: 6,964,321 (GRCm39) F55L probably benign Het
Usp9y A G Y: 1,356,317 (GRCm39) L1128P probably damaging Het
Zdhhc5 T C 2: 84,520,596 (GRCm39) E527G probably benign Het
Zfand4 A G 6: 116,250,604 (GRCm39) I11M probably damaging Het
Zfp110 T A 7: 12,582,888 (GRCm39) I512K probably benign Het
Zfp638 T A 6: 83,954,143 (GRCm39) F1416Y probably damaging Het
Other mutations in Or8k28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01661:Or8k28 APN 2 86,285,846 (GRCm39) missense possibly damaging 0.92
IGL01668:Or8k28 APN 2 86,285,746 (GRCm39) missense probably damaging 1.00
IGL02016:Or8k28 APN 2 86,285,841 (GRCm39) missense probably damaging 0.99
R0396:Or8k28 UTSW 2 86,286,363 (GRCm39) missense possibly damaging 0.54
R0980:Or8k28 UTSW 2 86,285,704 (GRCm39) missense probably benign 0.01
R0987:Or8k28 UTSW 2 86,285,891 (GRCm39) nonsense probably null
R1169:Or8k28 UTSW 2 86,285,931 (GRCm39) missense possibly damaging 0.85
R2001:Or8k28 UTSW 2 86,285,817 (GRCm39) missense probably benign 0.45
R2002:Or8k28 UTSW 2 86,285,817 (GRCm39) missense probably benign 0.45
R2265:Or8k28 UTSW 2 86,286,558 (GRCm39) missense possibly damaging 0.77
R3811:Or8k28 UTSW 2 86,285,691 (GRCm39) missense probably benign 0.21
R4579:Or8k28 UTSW 2 86,285,859 (GRCm39) missense probably damaging 0.99
R4726:Or8k28 UTSW 2 86,286,580 (GRCm39) missense possibly damaging 0.90
R4768:Or8k28 UTSW 2 86,285,994 (GRCm39) nonsense probably null
R4871:Or8k28 UTSW 2 86,286,153 (GRCm39) missense possibly damaging 0.95
R5304:Or8k28 UTSW 2 86,285,779 (GRCm39) missense probably damaging 1.00
R6037:Or8k28 UTSW 2 86,286,133 (GRCm39) missense probably benign 0.14
R6037:Or8k28 UTSW 2 86,286,133 (GRCm39) missense probably benign 0.14
R7080:Or8k28 UTSW 2 86,285,835 (GRCm39) nonsense probably null
R7223:Or8k28 UTSW 2 86,286,211 (GRCm39) missense possibly damaging 0.78
R7378:Or8k28 UTSW 2 86,286,412 (GRCm39) missense probably benign 0.10
R7465:Or8k28 UTSW 2 86,286,150 (GRCm39) missense probably benign 0.07
R7598:Or8k28 UTSW 2 86,286,234 (GRCm39) missense probably damaging 0.98
R8524:Or8k28 UTSW 2 86,285,961 (GRCm39) missense probably damaging 1.00
R8818:Or8k28 UTSW 2 86,286,078 (GRCm39) missense probably damaging 1.00
R8954:Or8k28 UTSW 2 86,285,892 (GRCm39) missense probably damaging 1.00
R9396:Or8k28 UTSW 2 86,285,845 (GRCm39) missense probably benign 0.00
X0025:Or8k28 UTSW 2 86,286,213 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- CATGTGTGTTTGAGCAGGCC -3'
(R):5'- AAACACCCATGTACTTCTTTCTCAG -3'

Sequencing Primer
(F):5'- TGTGTTTGAGCAGGCCAAAGTTAAC -3'
(R):5'- AGACACCTTGCTACTACTGATCTTGG -3'
Posted On 2021-04-30