Incidental Mutation 'IGL02706:Or1x2'
ID 304325
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or1x2
Ensembl Gene ENSMUSG00000059397
Gene Name olfactory receptor family 1 subfamily X member 2
Synonyms GA_x6K02T2QP88-4411197-4410256, MOR126-1, Olfr54, F3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL02706
Quality Score
Status
Chromosome 11
Chromosomal Location 50917831-50918772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 50918091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 87 (H87Q)
Ref Sequence ENSEMBL: ENSMUSP00000150809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072152] [ENSMUST00000215409] [ENSMUST00000217480]
AlphaFold Q8VFE6
Predicted Effect probably damaging
Transcript: ENSMUST00000072152
AA Change: H87Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072016
Gene: ENSMUSG00000059397
AA Change: H87Q

DomainStartEndE-ValueType
Pfam:7tm_4 33 309 3e-57 PFAM
Pfam:7TM_GPCR_Srsx 37 306 8.8e-6 PFAM
Pfam:7tm_1 43 291 2.7e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215409
AA Change: H87Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000217480
AA Change: H87Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,517,966 (GRCm39) E781G probably benign Het
Abcc8 C T 7: 45,816,345 (GRCm39) R265Q probably benign Het
Agtr1b A T 3: 20,370,027 (GRCm39) I193N probably benign Het
Atp6v1e2 A G 17: 87,252,362 (GRCm39) I12T probably damaging Het
Cacna1g T C 11: 94,347,818 (GRCm39) T757A probably damaging Het
Cldn15 A G 5: 137,003,685 (GRCm39) K200R probably benign Het
Dip2b G T 15: 100,113,192 (GRCm39) V1302F probably damaging Het
Dnajb6 T A 5: 29,957,421 (GRCm39) Y68N probably damaging Het
Dok1 T A 6: 83,009,315 (GRCm39) E179V probably damaging Het
Epha4 T C 1: 77,403,482 (GRCm39) T342A probably damaging Het
Etf1 A T 18: 35,064,690 (GRCm39) S6R possibly damaging Het
Fryl T C 5: 73,250,506 (GRCm39) I987V probably benign Het
Gba2 C T 4: 43,567,257 (GRCm39) G897S probably benign Het
Habp2 G T 19: 56,298,570 (GRCm39) probably null Het
Hapln1 G T 13: 89,753,578 (GRCm39) S248I possibly damaging Het
Hydin A G 8: 111,137,198 (GRCm39) D667G probably damaging Het
Kcnma1 T A 14: 23,359,222 (GRCm39) H1074L probably damaging Het
Kctd9 T C 14: 67,962,130 (GRCm39) probably null Het
L3mbtl4 A G 17: 68,793,914 (GRCm39) D306G probably damaging Het
Lgalsl T C 11: 20,780,090 (GRCm39) R49G probably damaging Het
Lpo C T 11: 87,708,599 (GRCm39) S133N probably benign Het
Lrp8 A T 4: 107,660,516 (GRCm39) R59* probably null Het
Mctp1 T C 13: 76,971,188 (GRCm39) F629S probably damaging Het
Med1 A G 11: 98,047,533 (GRCm39) probably benign Het
Nbea T C 3: 55,944,699 (GRCm39) H555R probably damaging Het
Nedd1 T C 10: 92,522,147 (GRCm39) H630R possibly damaging Het
Nr3c2 A T 8: 77,635,045 (GRCm39) probably null Het
Nubp2 A T 17: 25,102,171 (GRCm39) V267E probably benign Het
Oacyl A T 18: 65,882,792 (GRCm39) Y629F probably damaging Het
Or1n1b A G 2: 36,780,731 (GRCm39) I43T probably damaging Het
Or5b119 A T 19: 13,457,462 (GRCm39) Y33* probably null Het
Pknox2 T C 9: 36,847,675 (GRCm39) H114R probably benign Het
Ppp2r1b A G 9: 50,790,134 (GRCm39) D564G possibly damaging Het
Ppp3ca T G 3: 136,611,079 (GRCm39) N367K possibly damaging Het
Ptprn2 T C 12: 116,852,518 (GRCm39) V525A probably damaging Het
Reps1 T G 10: 17,998,763 (GRCm39) probably benign Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Sipa1l1 A G 12: 82,444,207 (GRCm39) I973V possibly damaging Het
Ssh2 T A 11: 77,344,232 (GRCm39) V739D possibly damaging Het
Tbc1d24 A G 17: 24,404,395 (GRCm39) F250L probably benign Het
Ube3a T A 7: 58,921,881 (GRCm39) H84Q possibly damaging Het
Usp34 T C 11: 23,338,659 (GRCm39) probably benign Het
Zdhhc8 G T 16: 18,042,758 (GRCm39) L481I probably damaging Het
Zfp574 A G 7: 24,780,790 (GRCm39) H604R probably damaging Het
Zfp945 A T 17: 23,076,256 (GRCm39) M63K probably damaging Het
Other mutations in Or1x2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01514:Or1x2 APN 11 50,918,416 (GRCm39) nonsense probably null
IGL01875:Or1x2 APN 11 50,918,202 (GRCm39) missense probably damaging 1.00
IGL01936:Or1x2 APN 11 50,918,162 (GRCm39) missense probably benign 0.02
IGL02165:Or1x2 APN 11 50,918,470 (GRCm39) missense probably benign 0.00
IGL02474:Or1x2 APN 11 50,918,192 (GRCm39) missense probably damaging 1.00
IGL02983:Or1x2 APN 11 50,918,207 (GRCm39) missense probably damaging 1.00
IGL03037:Or1x2 APN 11 50,918,117 (GRCm39) missense probably damaging 1.00
IGL03086:Or1x2 APN 11 50,918,557 (GRCm39) missense probably damaging 1.00
R0114:Or1x2 UTSW 11 50,918,431 (GRCm39) missense probably benign 0.34
R1201:Or1x2 UTSW 11 50,917,937 (GRCm39) missense probably damaging 0.99
R1353:Or1x2 UTSW 11 50,917,833 (GRCm39) start codon destroyed probably null 0.33
R1624:Or1x2 UTSW 11 50,917,952 (GRCm39) missense probably damaging 1.00
R1961:Or1x2 UTSW 11 50,918,302 (GRCm39) missense probably benign 0.00
R5318:Or1x2 UTSW 11 50,918,420 (GRCm39) missense probably benign 0.01
R5335:Or1x2 UTSW 11 50,918,161 (GRCm39) missense probably benign 0.00
R6409:Or1x2 UTSW 11 50,918,015 (GRCm39) missense probably damaging 1.00
R7097:Or1x2 UTSW 11 50,918,428 (GRCm39) missense probably benign 0.09
R8243:Or1x2 UTSW 11 50,918,138 (GRCm39) missense probably benign
Posted On 2015-04-16