Incidental Mutation 'R5296:Or4x6'
ID 405393
Institutional Source Beutler Lab
Gene Symbol Or4x6
Ensembl Gene ENSMUSG00000084336
Gene Name olfactory receptor family 4 subfamily X member 6
Synonyms GA_x6K02T2Q125-51551618-51550689, Olfr1269, MOR228-3
MMRRC Submission 042879-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R5296 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 90116187-90121412 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90118699 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 300 (W300R)
Ref Sequence ENSEMBL: ENSMUSP00000150470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099756] [ENSMUST00000117787] [ENSMUST00000214404] [ENSMUST00000216493]
AlphaFold Q8VEZ2
Predicted Effect probably damaging
Transcript: ENSMUST00000099756
AA Change: W300R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097345
Gene: ENSMUSG00000084336
AA Change: W300R

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 damaging
Transcript: ENSMUST00000214404
AA Change: W300R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000216493
AA Change: W300R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.3539 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.6%
Validation Efficiency 100% (65/65)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apobr A C 7: 126,588,024 (GRCm38) D89A probably damaging Het
Bhlhe41 C T 6: 145,862,968 (GRCm38) probably benign Het
Cacna1s G A 1: 136,095,785 (GRCm38) V674M probably benign Het
Cavin2 T C 1: 51,289,870 (GRCm38) probably null Het
Cd300lb T C 11: 114,924,937 (GRCm38) S106G possibly damaging Het
Ceacam15 A G 7: 16,673,196 (GRCm38) V132A probably benign Het
Ddi2 G T 4: 141,684,765 (GRCm38) Q279K probably benign Het
Dnah11 A G 12: 117,883,416 (GRCm38) V4304A probably damaging Het
Dnah2 C T 11: 69,458,920 (GRCm38) R2399Q probably benign Het
Dnase1l1 C T X: 74,277,038 (GRCm38) probably null Het
Epsti1 T A 14: 77,904,650 (GRCm38) H55Q probably benign Het
Flad1 T C 3: 89,411,196 (GRCm38) T17A probably damaging Het
Fzd2 C T 11: 102,606,155 (GRCm38) T475M probably damaging Het
Gemin5 C A 11: 58,130,061 (GRCm38) W1099L probably damaging Het
Gm9892 T C 8: 52,196,929 (GRCm38) noncoding transcript Het
Gmeb2 A G 2: 181,255,986 (GRCm38) probably benign Het
Grip1 A G 10: 119,929,928 (GRCm38) E55G probably damaging Het
Gvin-ps3 A T 7: 106,081,848 (GRCm38) noncoding transcript Het
Hltf T C 3: 20,108,112 (GRCm38) S825P probably damaging Het
Kcnh3 A T 15: 99,241,939 (GRCm38) Q902L probably null Het
Kcnt2 C T 1: 140,609,615 (GRCm38) P1037L probably damaging Het
Klhl18 G C 9: 110,436,127 (GRCm38) N335K possibly damaging Het
Lama5 A C 2: 180,193,801 (GRCm38) L1253R probably damaging Het
Lancl2 T G 6: 57,724,582 (GRCm38) S230A probably benign Het
Lmcd1 A G 6: 112,315,588 (GRCm38) M134V probably damaging Het
Lrrc23 C A 6: 124,774,482 (GRCm38) A205S probably damaging Het
Mfsd13b T A 7: 120,991,738 (GRCm38) I234N probably damaging Het
Mroh3 A G 1: 136,196,323 (GRCm38) S386P probably damaging Het
Mylk3 A C 8: 85,355,431 (GRCm38) F313V possibly damaging Het
Myo9b A T 8: 71,333,388 (GRCm38) Q643L possibly damaging Het
Nacad T C 11: 6,605,745 (GRCm38) S2G unknown Het
Olfr908 T C 9: 38,516,116 (GRCm38) F28S probably damaging Het
Or10z1 G T 1: 174,250,756 (GRCm38) T57K possibly damaging Het
Or2n1d C T 17: 38,335,456 (GRCm38) Q100* probably null Het
Pkd1 T C 17: 24,576,074 (GRCm38) V2245A probably damaging Het
Pkdrej G A 15: 85,817,118 (GRCm38) T1539I possibly damaging Het
Plch2 G T 4: 154,989,999 (GRCm38) probably null Het
Pygm G A 19: 6,384,579 (GRCm38) R34H probably damaging Het
Rgs12 T C 5: 35,021,104 (GRCm38) probably benign Het
Ruvbl1 T C 6: 88,485,908 (GRCm38) I338T probably damaging Het
Sapcd1 T A 17: 35,026,731 (GRCm38) Q104L probably damaging Het
Satb2 T C 1: 56,796,907 (GRCm38) E575G probably damaging Het
Sema6b T A 17: 56,127,091 (GRCm38) probably null Het
Slc25a11 T C 11: 70,646,185 (GRCm38) N15D probably damaging Het
Slc26a6 C T 9: 108,860,646 (GRCm38) T526M probably damaging Het
Tcaf3 G T 6: 42,587,510 (GRCm38) T906K possibly damaging Het
Thbd A T 2: 148,406,983 (GRCm38) C322S probably damaging Het
Traf2 A G 2: 25,520,440 (GRCm38) L399P probably damaging Het
Troap T A 15: 99,078,817 (GRCm38) V274D probably damaging Het
Utrn G A 10: 12,401,355 (GRCm38) T3406M probably damaging Het
Uts2 G T 4: 150,999,051 (GRCm38) A40S possibly damaging Het
Vmn2r109 T A 17: 20,554,341 (GRCm38) I251F possibly damaging Het
Vmn2r67 A G 7: 85,137,022 (GRCm38) S592P probably damaging Het
Vps13b T G 15: 35,876,413 (GRCm38) W2797G probably damaging Het
Ythdf1 A T 2: 180,912,188 (GRCm38) M51K probably damaging Het
Zfp60 T A 7: 27,738,530 (GRCm38) probably benign Het
Zfp882 T A 8: 71,914,360 (GRCm38) F344I probably damaging Het
Other mutations in Or4x6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01389:Or4x6 APN 2 90,119,068 (GRCm38) missense probably damaging 1.00
IGL01518:Or4x6 APN 2 90,118,971 (GRCm38) missense possibly damaging 0.95
IGL01889:Or4x6 APN 2 90,118,965 (GRCm38) missense possibly damaging 0.84
IGL02629:Or4x6 APN 2 90,118,857 (GRCm38) nonsense probably null
R0732:Or4x6 UTSW 2 90,119,322 (GRCm38) missense probably benign 0.20
R1446:Or4x6 UTSW 2 90,118,858 (GRCm38) missense probably damaging 0.98
R1938:Or4x6 UTSW 2 90,119,083 (GRCm38) missense probably damaging 0.97
R4526:Or4x6 UTSW 2 90,118,672 (GRCm38) missense probably benign 0.01
R4786:Or4x6 UTSW 2 90,119,007 (GRCm38) missense possibly damaging 0.95
R4792:Or4x6 UTSW 2 90,118,830 (GRCm38) missense possibly damaging 0.95
R4925:Or4x6 UTSW 2 90,118,777 (GRCm38) missense probably damaging 1.00
R5152:Or4x6 UTSW 2 90,119,121 (GRCm38) missense probably damaging 0.98
R5450:Or4x6 UTSW 2 90,118,669 (GRCm38) makesense probably null
R5536:Or4x6 UTSW 2 90,118,839 (GRCm38) missense probably benign 0.00
R7572:Or4x6 UTSW 2 90,118,743 (GRCm38) missense probably damaging 1.00
R7695:Or4x6 UTSW 2 90,118,863 (GRCm38) missense probably benign 0.08
R7879:Or4x6 UTSW 2 90,118,841 (GRCm38) nonsense probably null
R7938:Or4x6 UTSW 2 90,118,829 (GRCm38) nonsense probably null
R8280:Or4x6 UTSW 2 90,119,398 (GRCm38) missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- TCTATCAGGAGTGCATTTGTAAGAC -3'
(R):5'- ATCCCATGTCACTGTGGTTATATTG -3'

Sequencing Primer
(F):5'- TTCTGCTGTAAATACTTGCTACAG -3'
(R):5'- ATATTGTTCTTTGGTCCATGTGTC -3'
Posted On 2016-07-22