Incidental Mutation 'R6482:Or8i2'
ID 517152
Institutional Source Beutler Lab
Gene Symbol Or8i2
Ensembl Gene ENSMUSG00000075166
Gene Name olfactory receptor family 8 subfamily I member 2
Synonyms MOR207-1, GA_x6K02T2Q125-48508763-48507833, Olfr1104
MMRRC Submission 044614-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.882) question?
Stock # R6482 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 86851954-86852886 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 86852869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 6 (F6L)
Ref Sequence ENSEMBL: ENSMUSP00000149240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099869] [ENSMUST00000214857] [ENSMUST00000215972]
AlphaFold A2AVB5
Predicted Effect probably benign
Transcript: ENSMUST00000099869
AA Change: F6L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000097454
Gene: ENSMUSG00000075166
AA Change: F6L

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 9.3e-48 PFAM
Pfam:7tm_1 41 289 2.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214857
AA Change: F6L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000215972
AA Change: F6L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Meta Mutation Damage Score 0.0748 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.6%
Validation Efficiency 100% (40/40)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadvl T C 11: 69,902,388 (GRCm39) I415V probably benign Het
Akap8l A G 17: 32,564,370 (GRCm39) F6L possibly damaging Het
Ano3 T A 2: 110,527,400 (GRCm39) N603Y probably damaging Het
Casp8ap2 T C 4: 32,634,813 (GRCm39) S116P probably damaging Het
Ccdc110 A T 8: 46,395,825 (GRCm39) Q572L probably benign Het
Chit1 T C 1: 134,070,980 (GRCm39) S20P probably damaging Het
Col22a1 G A 15: 71,762,338 (GRCm39) P107L possibly damaging Het
Dpys T C 15: 39,705,369 (GRCm39) H248R probably damaging Het
Dsg2 A T 18: 20,734,371 (GRCm39) K783I possibly damaging Het
Efnb2 A T 8: 8,670,637 (GRCm39) V321E probably damaging Het
Eif1ad13 A G 12: 87,762,565 (GRCm39) Y95C probably damaging Het
Fbxo11 A T 17: 88,320,086 (GRCm39) Y209N probably benign Het
Gm35315 A T 5: 110,225,955 (GRCm39) C495S possibly damaging Het
Hrh1 A G 6: 114,457,724 (GRCm39) Q335R possibly damaging Het
Il12rb2 A G 6: 67,333,670 (GRCm39) L203P probably damaging Het
Itgav T C 2: 83,624,614 (GRCm39) S735P probably damaging Het
Klrg1 G T 6: 122,248,412 (GRCm39) C162* probably null Het
Mcc T C 18: 44,578,931 (GRCm39) S651G possibly damaging Het
Nkx2-2 T A 2: 147,027,896 (GRCm39) I15F probably damaging Het
Nppa G A 4: 148,085,328 (GRCm39) V13I probably benign Het
Obi1 A T 14: 104,717,253 (GRCm39) C373* probably null Het
Pde2a A G 7: 101,150,244 (GRCm39) N228D probably benign Het
Pgpep1l C T 7: 67,888,815 (GRCm39) probably null Het
Plekhg3 A G 12: 76,622,778 (GRCm39) N673D probably benign Het
Plxna4 A G 6: 32,493,672 (GRCm39) S315P probably benign Het
Psg21 A T 7: 18,388,664 (GRCm39) probably null Het
Rnf111 T C 9: 70,336,889 (GRCm39) T925A probably damaging Het
Spag9 T C 11: 93,984,328 (GRCm39) F734L possibly damaging Het
Tarbp1 A G 8: 127,177,434 (GRCm39) V746A probably benign Het
Tmtc1 A G 6: 148,314,243 (GRCm39) F119L probably benign Het
Ttc21b A G 2: 66,057,244 (GRCm39) M576T probably benign Het
Usp48 T A 4: 137,362,232 (GRCm39) V765E probably damaging Het
Vmn1r20 A G 6: 57,409,093 (GRCm39) S140G probably benign Het
Vwde A G 6: 13,205,843 (GRCm39) S235P probably damaging Het
Wapl A G 14: 34,414,649 (GRCm39) S504G probably benign Het
Wnt5b A T 6: 119,410,573 (GRCm39) L289Q possibly damaging Het
Zfp142 G A 1: 74,609,376 (GRCm39) probably null Het
Zfp385b ATCTTCTTCTTCT ATCTTCTTCTTCTTCT 2: 77,549,992 (GRCm39) probably benign Het
Zfp948 A G 17: 21,807,813 (GRCm39) H335R probably benign Het
Other mutations in Or8i2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Or8i2 APN 2 86,852,228 (GRCm39) missense probably damaging 1.00
IGL02533:Or8i2 APN 2 86,852,697 (GRCm39) missense probably damaging 1.00
IGL02662:Or8i2 APN 2 86,852,346 (GRCm39) missense probably benign 0.09
IGL02704:Or8i2 APN 2 86,852,621 (GRCm39) missense probably benign 0.00
R0145:Or8i2 UTSW 2 86,852,134 (GRCm39) nonsense probably null
R0625:Or8i2 UTSW 2 86,851,964 (GRCm39) missense probably benign
R1169:Or8i2 UTSW 2 86,852,061 (GRCm39) missense probably damaging 1.00
R1570:Or8i2 UTSW 2 86,852,616 (GRCm39) missense probably benign
R1727:Or8i2 UTSW 2 86,852,607 (GRCm39) missense probably damaging 1.00
R2146:Or8i2 UTSW 2 86,852,009 (GRCm39) missense probably damaging 1.00
R2192:Or8i2 UTSW 2 86,852,855 (GRCm39) missense probably benign 0.01
R3716:Or8i2 UTSW 2 86,852,707 (GRCm39) nonsense probably null
R3818:Or8i2 UTSW 2 86,852,054 (GRCm39) missense probably benign 0.02
R4711:Or8i2 UTSW 2 86,852,370 (GRCm39) missense probably damaging 1.00
R6104:Or8i2 UTSW 2 86,852,057 (GRCm39) missense probably damaging 1.00
R7474:Or8i2 UTSW 2 86,852,898 (GRCm39) start gained probably benign
R7517:Or8i2 UTSW 2 86,852,486 (GRCm39) missense probably benign 0.45
R7610:Or8i2 UTSW 2 86,852,141 (GRCm39) missense possibly damaging 0.59
R7944:Or8i2 UTSW 2 86,852,657 (GRCm39) missense probably benign 0.01
R7945:Or8i2 UTSW 2 86,852,657 (GRCm39) missense probably benign 0.01
R8235:Or8i2 UTSW 2 86,852,226 (GRCm39) missense probably benign 0.36
R8966:Or8i2 UTSW 2 86,852,879 (GRCm39) missense possibly damaging 0.60
R9002:Or8i2 UTSW 2 86,852,241 (GRCm39) missense probably benign 0.41
X0019:Or8i2 UTSW 2 86,851,979 (GRCm39) missense probably benign 0.00
Z1177:Or8i2 UTSW 2 86,851,962 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GTCAATGAATGCTAAATTGCTGAGG -3'
(R):5'- TGTCACAATGATAGAGTTGGGTAG -3'

Sequencing Primer
(F):5'- TGCCCCACACAGTGAATA -3'
(R):5'- CACTTCTTCAGAGGACCAGAGTTTG -3'
Posted On 2018-05-21