Incidental Mutation 'R3818:Or8i2'
ID 274767
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 040772-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.882) question?
Stock # R3818 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 86851954-86852886 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86852054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 278 (T278I)
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: T278I

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000097454
Gene: ENSMUSG00000075166
AA Change: T278I

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: T278I

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000215972
AA Change: T278I

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.4%
Validation Efficiency 100% (34/34)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310011J03Rik T C 10: 80,155,351 (GRCm39) D54G probably damaging Het
Adra2b G T 2: 127,205,755 (GRCm39) E86* probably null Het
Cachd1 A T 4: 100,848,062 (GRCm39) D1059V probably damaging Het
Cd177 A G 7: 24,453,817 (GRCm39) V358A probably benign Het
Col25a1 A G 3: 130,343,720 (GRCm39) K396R possibly damaging Het
Csmd1 C T 8: 16,052,522 (GRCm39) A2201T probably damaging Het
Cyp4a12b A T 4: 115,289,667 (GRCm39) D178V probably damaging Het
Cyp4a30b G T 4: 115,316,206 (GRCm39) A311S probably damaging Het
Dse T C 10: 34,029,429 (GRCm39) I554V probably benign Het
Gabrg3 G A 7: 57,031,412 (GRCm39) Q43* probably null Het
Gjb2 A G 14: 57,337,530 (GRCm39) V226A probably benign Het
Gpr21 C A 2: 37,408,324 (GRCm39) T290N probably damaging Het
Gsdme A C 6: 50,196,391 (GRCm39) S340A probably benign Het
Hivep2 T C 10: 14,019,685 (GRCm39) V2152A possibly damaging Het
Mamdc4 C T 2: 25,455,785 (GRCm39) S840N probably benign Het
Or5p59 A G 7: 107,702,705 (GRCm39) Y63C possibly damaging Het
Pah A G 10: 87,357,866 (GRCm39) probably benign Het
Pikfyve T A 1: 65,284,917 (GRCm39) S794T probably damaging Het
Plekhn1 T C 4: 156,309,990 (GRCm39) H108R probably damaging Het
Pomgnt1 T A 4: 116,011,139 (GRCm39) probably null Het
Prkd1 A T 12: 50,466,667 (GRCm39) probably benign Het
Pwp1 C T 10: 85,723,993 (GRCm39) P498L possibly damaging Het
Rasa4 A G 5: 136,131,147 (GRCm39) T414A possibly damaging Het
Rbm26 A T 14: 105,378,706 (GRCm39) L594I probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Skint5 A G 4: 113,486,319 (GRCm39) probably benign Het
Sorcs3 A G 19: 48,592,343 (GRCm39) N336S probably benign Het
Sspo A T 6: 48,458,037 (GRCm39) E3269V possibly damaging Het
Tlr4 A G 4: 66,759,553 (GRCm39) E782G probably benign Het
Tnfrsf11a C T 1: 105,737,085 (GRCm39) T64I probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttl T C 2: 128,934,914 (GRCm39) V358A probably damaging Het
Wdhd1 A G 14: 47,481,258 (GRCm39) probably null Het
Wdr37 A G 13: 8,903,632 (GRCm39) probably benign Het
Zfp939 T C 7: 39,122,792 (GRCm39) noncoding transcript 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
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'- ATGCCTCAGTGTCATGATATGTTC -3'
(R):5'- CAGCCATCCTTAGGATACAGTC -3'

Sequencing Primer
(F):5'- ATGAGCTGAAATGACCTCTTAATG -3'
(R):5'- TCCTTAGGATACAGTCAGCAGCTG -3'
Posted On 2015-04-02