Incidental Mutation 'R0625:Or8i2'
ID 57393
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 038814-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.882) question?
Stock # R0625 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 86851954-86852886 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86851964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 308 (H308L)
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: H308L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097454
Gene: ENSMUSG00000075166
AA Change: H308L

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: H308L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215972
AA Change: H308L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik T C 9: 53,319,365 (GRCm39) S2P probably benign Het
Abca16 A C 7: 120,035,116 (GRCm39) T301P probably damaging Het
Acer2 A G 4: 86,805,399 (GRCm39) D121G possibly damaging Het
Adgrd1 T C 5: 129,248,995 (GRCm39) probably null Het
Arhgap11a T C 2: 113,672,056 (GRCm39) I249V probably benign Het
Arhgap22 A G 14: 33,088,671 (GRCm39) E219G probably benign Het
C2cd4b T A 9: 67,667,033 (GRCm39) S10T probably benign Het
Cnot6 A T 11: 49,573,998 (GRCm39) I224N probably damaging Het
Ctrc T C 4: 141,568,829 (GRCm39) T125A probably damaging Het
Cxxc5 T G 18: 35,991,642 (GRCm39) S14R unknown Het
Cyp4f37 T G 17: 32,853,652 (GRCm39) F445L probably damaging Het
Dcbld1 T G 10: 52,188,946 (GRCm39) I186S probably benign Het
Dmxl2 T C 9: 54,289,986 (GRCm39) T2510A probably benign Het
Dnah3 A G 7: 119,671,110 (GRCm39) I591T possibly damaging Het
Dock5 A T 14: 68,078,612 (GRCm39) I204N probably benign Het
Dysf G A 6: 84,088,969 (GRCm39) probably null Het
Erich5 A G 15: 34,471,515 (GRCm39) E248G probably damaging Het
Fhip1a A G 3: 85,637,807 (GRCm39) V164A possibly damaging Het
Foxm1 A G 6: 128,350,834 (GRCm39) S712G probably damaging Het
Frmpd1 A G 4: 45,284,055 (GRCm39) T959A probably benign Het
Gfra4 C T 2: 130,882,176 (GRCm39) V277I probably null Het
Hacd4 T C 4: 88,353,247 (GRCm39) I82V probably benign Het
Itih2 C T 2: 10,128,225 (GRCm39) V159I possibly damaging Het
Itpr2 T A 6: 146,068,149 (GRCm39) M2410L probably benign Het
Marchf11 A G 15: 26,311,129 (GRCm39) I202V probably damaging Het
Marchf3 A G 18: 56,944,902 (GRCm39) probably null Het
Med12l G A 3: 59,154,858 (GRCm39) E1135K probably damaging Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mlx T C 11: 100,978,608 (GRCm39) L78P possibly damaging Het
Muc5b T C 7: 141,400,164 (GRCm39) C473R unknown Het
N4bp2l1 T A 5: 150,500,210 (GRCm39) R66* probably null Het
Nes A G 3: 87,884,479 (GRCm39) T913A possibly damaging Het
Oas1a T C 5: 121,037,322 (GRCm39) E235G probably damaging Het
Or5p56 T C 7: 107,590,396 (GRCm39) S275P probably damaging Het
Or8b1c T C 9: 38,384,504 (GRCm39) S154P possibly damaging Het
Parn C T 16: 13,458,158 (GRCm39) V286I probably benign Het
Paxip1 G A 5: 27,970,940 (GRCm39) Q470* probably null Het
Phc2 C G 4: 128,617,503 (GRCm39) H510D possibly damaging Het
Pla2g4f T A 2: 120,135,522 (GRCm39) D384V probably damaging Het
Plpbp A T 8: 27,535,159 (GRCm39) N68I probably damaging Het
Podxl2 G A 6: 88,826,937 (GRCm39) A123V possibly damaging Het
Pole A T 5: 110,473,416 (GRCm39) T1737S possibly damaging Het
Ppp3cc T C 14: 70,462,476 (GRCm39) E396G probably damaging Het
Pramel7 T A 2: 87,321,352 (GRCm39) I228F probably benign Het
Prl7d1 A T 13: 27,894,123 (GRCm39) C149S probably benign Het
Qtrt1 G T 9: 21,329,584 (GRCm39) M217I probably benign Het
Sec24a T A 11: 51,620,281 (GRCm39) D456V probably damaging Het
Shox2 T G 3: 66,888,877 (GRCm39) probably null Het
Skint2 T A 4: 112,481,283 (GRCm39) S49T probably damaging Het
Smarca5 A G 8: 81,447,315 (GRCm39) probably null Het
Sorcs2 T A 5: 36,181,916 (GRCm39) D1068V possibly damaging Het
Tmem114 T C 16: 8,229,966 (GRCm39) probably null Het
Ttc7b T A 12: 100,321,305 (GRCm39) M24L probably benign Het
Ttll3 A G 6: 113,385,864 (GRCm39) probably null Het
Usp7 C T 16: 8,522,846 (GRCm39) D102N 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
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
R6482:Or8i2 UTSW 2 86,852,869 (GRCm39) missense probably benign 0.00
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'- ACATGTAAGTCGCATGAAACTGGAACT -3'
(R):5'- CCTCACAGGGGTCACTGTCTTCTATG -3'

Sequencing Primer
(F):5'- aagatcaacagcctgctcc -3'
(R):5'- ATGGCTCTTTGATTTTCACCTATTTG -3'
Posted On 2013-07-11