Incidental Mutation 'R5335:Or1x2'
ID 423486
Institutional Source Beutler Lab
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
MMRRC Submission 042916-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R5335 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 50917831-50918772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 50918161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Histidine at position 111 (N111H)
Ref Sequence ENSEMBL: ENSMUSP00000150809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072152] [ENSMUST00000215409] [ENSMUST00000217480]
AlphaFold Q8VFE6
Predicted Effect probably benign
Transcript: ENSMUST00000072152
AA Change: N111H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000072016
Gene: ENSMUSG00000059397
AA Change: N111H

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 benign
Transcript: ENSMUST00000215409
AA Change: N111H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000217480
AA Change: N111H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (62/63)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010003K11Rik A G 19: 4,548,292 (GRCm39) W86R probably damaging Het
Ankrd6 T C 4: 32,818,651 (GRCm39) E225G probably damaging Het
Atxn10 A G 15: 85,220,785 (GRCm39) probably null Het
Bcas2 A G 3: 103,082,951 (GRCm39) I146V probably damaging Het
C2cd6 T A 1: 59,043,393 (GRCm39) noncoding transcript Het
Cachd1 G A 4: 100,825,282 (GRCm39) V579I possibly damaging Het
Col11a1 A G 3: 113,888,889 (GRCm39) T311A unknown Het
Cyp2c50 A T 19: 40,079,060 (GRCm39) L134F probably benign Het
Cyp2j11 T C 4: 96,195,589 (GRCm39) H369R probably damaging Het
Dis3 A G 14: 99,335,089 (GRCm39) V171A possibly damaging Het
Dnah12 A G 14: 26,601,695 (GRCm39) N3718D probably damaging Het
Dnah17 T C 11: 118,003,340 (GRCm39) I541V probably damaging Het
Eif3i T C 4: 129,488,979 (GRCm39) D86G probably benign Het
Epc1 C T 18: 6,490,689 (GRCm39) probably benign Het
Epc2 A G 2: 49,403,242 (GRCm39) N110S probably benign Het
Epha8 A T 4: 136,659,246 (GRCm39) L831Q probably damaging Het
Esd G T 14: 74,979,553 (GRCm39) R119I probably damaging Het
F2 T C 2: 91,465,277 (GRCm39) K96E possibly damaging Het
Fcgbp T C 7: 27,789,159 (GRCm39) V575A probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gemin6 T C 17: 80,533,184 (GRCm39) V39A probably damaging Het
Glmp G T 3: 88,233,962 (GRCm39) probably benign Het
Gm10306 C A 4: 94,445,044 (GRCm39) probably benign Het
Gm4846 A T 1: 166,325,022 (GRCm39) L23* probably null Het
Grik1 CGG CGGG 16: 87,720,082 (GRCm39) probably null Het
Ifi203 T C 1: 173,754,485 (GRCm39) T749A possibly damaging Het
Kcnip2 C A 19: 45,782,685 (GRCm39) A133S probably benign Het
Limch1 A T 5: 67,039,300 (GRCm39) I76F probably damaging Het
Mcph1 T A 8: 18,739,077 (GRCm39) probably null Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mtcl3 A T 10: 29,023,102 (GRCm39) I150L probably benign Het
Myh7 A G 14: 55,224,020 (GRCm39) probably benign Het
Odad2 A T 18: 7,294,566 (GRCm39) Y16N probably benign Het
Opcml A G 9: 28,586,621 (GRCm39) D113G possibly damaging Het
Or1j17 A T 2: 36,578,106 (GRCm39) I31F probably benign Het
Or2ag18 A C 7: 106,404,941 (GRCm39) S243A probably damaging Het
Or2b6 A C 13: 21,822,949 (GRCm39) V248G probably damaging Het
Or51f1d A C 7: 102,700,742 (GRCm39) D79A probably damaging Het
Or52s19 A C 7: 103,007,729 (GRCm39) L224R probably damaging Het
Or5j1 T G 2: 86,879,509 (GRCm39) K24Q probably damaging Het
Pcdhb1 G T 18: 37,400,308 (GRCm39) C753F probably benign Het
Phip T C 9: 82,782,809 (GRCm39) S879G possibly damaging Het
Pi4k2b A G 5: 52,899,098 (GRCm39) D13G possibly damaging Het
Ptpn18 A T 1: 34,502,259 (GRCm39) I68F probably damaging Het
Rnf168 C T 16: 32,117,402 (GRCm39) T321I possibly damaging Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Srgap1 C T 10: 121,621,282 (GRCm39) probably benign Het
Sry A T Y: 2,663,647 (GRCm39) H4Q probably benign Het
Taf2 G A 15: 54,909,136 (GRCm39) A703V probably benign Het
Taf5l A G 8: 124,730,390 (GRCm39) F65L probably damaging Het
Tcp10b T C 17: 13,281,954 (GRCm39) probably null Het
Timm44 A T 8: 4,316,814 (GRCm39) I273N probably damaging Het
Tspan4 A G 7: 141,069,528 (GRCm39) T43A probably damaging Het
Ube2r2 T C 4: 41,190,846 (GRCm39) probably benign Het
Urgcp T C 11: 5,667,754 (GRCm39) T195A possibly damaging Het
Vmn1r197 T C 13: 22,512,361 (GRCm39) I94T probably damaging Het
Vmn2r15 A T 5: 109,434,673 (GRCm39) I677K probably damaging Het
Zfp853 T A 5: 143,274,318 (GRCm39) H434L unknown 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
IGL02706:Or1x2 APN 11 50,918,091 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- ATGTACCTGGTCACGGTAGC -3'
(R):5'- AACTCAGTCTGCTCATGAGGAG -3'

Sequencing Primer
(F):5'- GTAGCTGGGAACACACTCATCTTC -3'
(R):5'- CTCATGAGGAGTGTGTGCATCAG -3'
Posted On 2016-08-04