Incidental Mutation 'IGL02629:Or4x6'
ID 301192
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4x6
Ensembl Gene ENSMUSG00000084336
Gene Name olfactory receptor family 4 subfamily X member 6
Synonyms GA_x6K02T2Q125-51551618-51550689, Olfr1269, MOR228-3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # IGL02629
Quality Score
Status
Chromosome 2
Chromosomal Location 89949011-89949940 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 89949201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 247 (L247*)
Ref Sequence ENSEMBL: ENSMUSP00000150470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099756] [ENSMUST00000117787] [ENSMUST00000214404] [ENSMUST00000216493]
AlphaFold Q8VEZ2
Predicted Effect probably null
Transcript: ENSMUST00000099756
AA Change: L247*
SMART Domains Protein: ENSMUSP00000097345
Gene: ENSMUSG00000084336
AA Change: L247*

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 3.8e-50 PFAM
Pfam:7TM_GPCR_Srsx 33 300 1.2e-5 PFAM
Pfam:7tm_1 39 285 5.9e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117787
Predicted Effect probably null
Transcript: ENSMUST00000214404
AA Change: L247*
Predicted Effect probably null
Transcript: ENSMUST00000216493
AA Change: L247*
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,445,006 (GRCm39) probably benign Het
Aadacl3 A G 4: 144,190,199 (GRCm39) I34T possibly damaging Het
Acan T A 7: 78,761,727 (GRCm39) I1979N possibly damaging Het
Ankrd27 A G 7: 35,325,121 (GRCm39) D701G probably benign Het
Arhgap31 C T 16: 38,429,526 (GRCm39) G450S probably benign Het
Braf T C 6: 39,665,233 (GRCm39) E45G possibly damaging Het
Btnl6 C T 17: 34,733,442 (GRCm39) V178M probably damaging Het
Capg A T 6: 72,532,737 (GRCm39) Q67L probably benign Het
Carmil3 A G 14: 55,736,525 (GRCm39) N663S probably damaging Het
Casz1 T A 4: 149,028,848 (GRCm39) S1098T probably benign Het
Cd55b A T 1: 130,347,535 (GRCm39) probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cenpf A G 1: 189,384,531 (GRCm39) L2583P probably damaging Het
Clec4a1 A C 6: 122,909,106 (GRCm39) probably null Het
Corin T C 5: 72,490,016 (GRCm39) N653S probably damaging Het
Dhx36 T C 3: 62,414,155 (GRCm39) E69G probably benign Het
Dpy19l1 C A 9: 24,350,009 (GRCm39) probably benign Het
Fam184a T C 10: 53,574,907 (GRCm39) N234S possibly damaging Het
Foxg1 A G 12: 49,432,331 (GRCm39) S355G probably benign Het
Fsd1l T C 4: 53,686,417 (GRCm39) S277P probably damaging Het
Hadh T A 3: 131,029,284 (GRCm39) D245V probably damaging Het
Jag2 G A 12: 112,878,134 (GRCm39) probably benign Het
Klhl18 A T 9: 110,259,006 (GRCm39) probably benign Het
Lmx1a G T 1: 167,672,192 (GRCm39) probably benign Het
Mcoln2 A G 3: 145,875,799 (GRCm39) Y89C probably benign Het
Mug1 A T 6: 121,817,024 (GRCm39) Y31F possibly damaging Het
Ndufb5 A G 3: 32,791,348 (GRCm39) T32A probably benign Het
Nub1 C T 5: 24,908,462 (GRCm39) H404Y possibly damaging Het
Nudt6 A G 3: 37,459,320 (GRCm39) Y222H probably benign Het
Pla2g4c A T 7: 13,069,302 (GRCm39) R159* probably null Het
Pnpla7 A G 2: 24,940,957 (GRCm39) D1103G probably damaging Het
Pof1b T G X: 111,554,934 (GRCm39) probably benign Het
Prrg2 C T 7: 44,706,166 (GRCm39) probably null Het
Rab3gap1 A G 1: 127,837,600 (GRCm39) T221A probably benign Het
Rfx7 A G 9: 72,526,541 (GRCm39) N1244D probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rnf123 A T 9: 107,947,988 (GRCm39) probably benign Het
Rnf44 T G 13: 54,830,875 (GRCm39) Q207P possibly damaging Het
Serpina3g A G 12: 104,207,437 (GRCm39) D200G probably damaging Het
Slc5a4a T A 10: 75,983,413 (GRCm39) S17T unknown Het
Smc4 G T 3: 68,933,206 (GRCm39) C609F probably damaging Het
Sync T C 4: 129,187,744 (GRCm39) F259L probably damaging Het
Tas2r113 T C 6: 132,870,299 (GRCm39) L109P probably damaging Het
Tjp2 C A 19: 24,099,743 (GRCm39) probably benign Het
Tmem30a C A 9: 79,683,531 (GRCm39) probably benign Het
Unc80 T C 1: 66,522,476 (GRCm39) V226A possibly damaging Het
Upk2 A T 9: 44,365,436 (GRCm39) L44Q probably damaging Het
Usp42 T C 5: 143,708,909 (GRCm39) Y203C possibly damaging Het
Vmn1r28 A T 6: 58,242,801 (GRCm39) I215F probably benign Het
Zswim2 A G 2: 83,755,553 (GRCm39) V116A possibly damaging Het
Other mutations in Or4x6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01389:Or4x6 APN 2 89,949,412 (GRCm39) missense probably damaging 1.00
IGL01518:Or4x6 APN 2 89,949,315 (GRCm39) missense possibly damaging 0.95
IGL01889:Or4x6 APN 2 89,949,309 (GRCm39) missense possibly damaging 0.84
R0732:Or4x6 UTSW 2 89,949,666 (GRCm39) missense probably benign 0.20
R1446:Or4x6 UTSW 2 89,949,202 (GRCm39) missense probably damaging 0.98
R1938:Or4x6 UTSW 2 89,949,427 (GRCm39) missense probably damaging 0.97
R4526:Or4x6 UTSW 2 89,949,016 (GRCm39) missense probably benign 0.01
R4786:Or4x6 UTSW 2 89,949,351 (GRCm39) missense possibly damaging 0.95
R4792:Or4x6 UTSW 2 89,949,174 (GRCm39) missense possibly damaging 0.95
R4925:Or4x6 UTSW 2 89,949,121 (GRCm39) missense probably damaging 1.00
R5152:Or4x6 UTSW 2 89,949,465 (GRCm39) missense probably damaging 0.98
R5296:Or4x6 UTSW 2 89,949,043 (GRCm39) missense probably damaging 0.97
R5450:Or4x6 UTSW 2 89,949,013 (GRCm39) makesense probably null
R5536:Or4x6 UTSW 2 89,949,183 (GRCm39) missense probably benign 0.00
R7572:Or4x6 UTSW 2 89,949,087 (GRCm39) missense probably damaging 1.00
R7695:Or4x6 UTSW 2 89,949,207 (GRCm39) missense probably benign 0.08
R7879:Or4x6 UTSW 2 89,949,185 (GRCm39) nonsense probably null
R7938:Or4x6 UTSW 2 89,949,173 (GRCm39) nonsense probably null
R8280:Or4x6 UTSW 2 89,949,742 (GRCm39) missense probably benign 0.27
Posted On 2015-04-16