Incidental Mutation 'R2233:Or6z5'
ID 240173
Institutional Source Beutler Lab
Gene Symbol Or6z5
Ensembl Gene ENSMUSG00000054938
Gene Name olfactory receptor family 6 subfamily Z member 5
Synonyms Olfr1346, GA_x6K02T2QGBW-3203957-3204898, MOR103-6
MMRRC Submission 040234-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R2233 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 6477111-6478052 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6477441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 111 (S111P)
Ref Sequence ENSEMBL: ENSMUSP00000150503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056144] [ENSMUST00000207658] [ENSMUST00000209866] [ENSMUST00000215302]
AlphaFold Q8VGH6
Predicted Effect possibly damaging
Transcript: ENSMUST00000056144
AA Change: S111P

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000050553
Gene: ENSMUSG00000054938
AA Change: S111P

DomainStartEndE-ValueType
Pfam:7tm_4 35 312 7.2e-44 PFAM
Pfam:7tm_1 45 295 5.4e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000207658
AA Change: S111P

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000209866
Predicted Effect possibly damaging
Transcript: ENSMUST00000215302
AA Change: S111P

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 A G 1: 63,584,671 (GRCm39) I360V probably benign Het
Adarb1 A G 10: 77,153,183 (GRCm39) V322A probably damaging Het
Atad2b T G 12: 5,056,745 (GRCm39) F867C probably damaging Het
Ccdc24 T C 4: 117,727,113 (GRCm39) K79R possibly damaging Het
Cfap44 A G 16: 44,271,888 (GRCm39) I1214V probably benign Het
Chrm4 A G 2: 91,758,875 (GRCm39) S428G probably benign Het
Chrnb1 A T 11: 69,686,428 (GRCm39) I64N probably damaging Het
Crh A T 3: 19,748,096 (GRCm39) M182K probably damaging Het
Dazap1 A G 10: 80,113,433 (GRCm39) K110E possibly damaging Het
Dhx16 T C 17: 36,198,778 (GRCm39) C737R probably damaging Het
Dst A G 1: 34,313,343 (GRCm39) E6384G probably damaging Het
Dync1i2 C T 2: 71,079,764 (GRCm39) Q419* probably null Het
E2f4 T A 8: 106,025,283 (GRCm39) V121E probably damaging Het
Enah G A 1: 181,749,537 (GRCm39) P415L probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fezf1 T C 6: 23,246,002 (GRCm39) T388A probably damaging Het
Gimap6 T A 6: 48,681,418 (GRCm39) H72L possibly damaging Het
Gm11149 A G 9: 49,473,446 (GRCm39) probably benign Het
Gm12695 C T 4: 96,612,266 (GRCm39) R499Q probably damaging Het
Grhl1 A G 12: 24,658,510 (GRCm39) D385G probably damaging Het
Hyou1 C T 9: 44,300,388 (GRCm39) T855M probably benign Het
Igf1r T A 7: 67,861,828 (GRCm39) N1129K probably damaging Het
Iglon5 T C 7: 43,130,062 (GRCm39) E34G probably damaging Het
Kcnab1 T A 3: 65,226,888 (GRCm39) V189D probably damaging Het
Kifap3 T A 1: 163,683,634 (GRCm39) D438E probably benign Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrrc41 G A 4: 115,953,582 (GRCm39) R756Q possibly damaging Het
Lrrc49 A T 9: 60,505,440 (GRCm39) F538L possibly damaging Het
Nphp3 G A 9: 103,914,575 (GRCm39) R1052H probably benign Het
Nynrin G A 14: 56,109,524 (GRCm39) V1544I possibly damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or9m1 G A 2: 87,733,819 (GRCm39) S67F probably damaging Het
Osbpl6 T C 2: 76,417,113 (GRCm39) F577L probably damaging Het
Otc A G X: 10,169,606 (GRCm39) Q216R probably benign Het
Ppp1r12a A G 10: 108,034,780 (GRCm39) I108M possibly damaging Het
Prl7a1 C A 13: 27,826,402 (GRCm39) probably null Het
Prss16 T C 13: 22,193,579 (GRCm39) D72G possibly damaging Het
Qrsl1 T C 10: 43,772,092 (GRCm39) K33E probably benign Het
Rabepk A T 2: 34,685,246 (GRCm39) I58N possibly damaging Het
Ralgapa1 A T 12: 55,763,856 (GRCm39) H1403Q probably benign Het
Rhobtb3 C A 13: 76,020,484 (GRCm39) C606F possibly damaging Het
Rnf216 G A 5: 143,076,681 (GRCm39) H68Y probably benign Het
Scap T C 9: 110,210,661 (GRCm39) C998R probably damaging Het
Scgb1b27 T C 7: 33,721,249 (GRCm39) Y46H probably damaging Het
Sel1l2 T C 2: 140,086,085 (GRCm39) Y502C probably damaging Het
Sf3a2 G T 10: 80,638,663 (GRCm39) A95S probably benign Het
Sis A T 3: 72,820,527 (GRCm39) F1412L probably benign Het
Slc25a29 A T 12: 108,801,587 (GRCm39) C9S possibly damaging Het
Snap91 T C 9: 86,680,624 (GRCm39) T427A probably benign Het
St3gal6 A G 16: 58,293,897 (GRCm39) F211L probably damaging Het
Stab1 G A 14: 30,883,837 (GRCm39) S240F probably benign Het
Sun3 T A 11: 8,973,371 (GRCm39) K109* probably null Het
Syne1 T C 10: 4,991,484 (GRCm39) N8410S probably benign Het
Tbx18 G T 9: 87,606,403 (GRCm39) S247R probably damaging Het
Tenm3 T C 8: 48,729,204 (GRCm39) I1601V probably benign Het
Tmem135 T C 7: 88,803,282 (GRCm39) N297S probably damaging Het
Tnk1 C T 11: 69,746,017 (GRCm39) probably null Het
Txnl4b A G 8: 110,295,551 (GRCm39) probably benign Het
Uck1 T C 2: 32,148,315 (GRCm39) D167G probably damaging Het
Vmn2r124 A T 17: 18,269,927 (GRCm39) H61L possibly damaging Het
Xylt2 C T 11: 94,560,822 (GRCm39) V239M possibly damaging Het
Zmpste24 T C 4: 120,955,162 (GRCm39) D12G probably benign Het
Zscan25 A G 5: 145,220,502 (GRCm39) Y99C probably damaging Het
Other mutations in Or6z5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0057:Or6z5 UTSW 7 6,477,679 (GRCm39) missense probably damaging 1.00
R0446:Or6z5 UTSW 7 6,478,024 (GRCm39) missense probably benign 0.00
R0531:Or6z5 UTSW 7 6,477,234 (GRCm39) missense possibly damaging 0.81
R0622:Or6z5 UTSW 7 6,477,598 (GRCm39) missense possibly damaging 0.46
R1596:Or6z5 UTSW 7 6,477,514 (GRCm39) missense probably damaging 1.00
R2234:Or6z5 UTSW 7 6,477,441 (GRCm39) missense possibly damaging 0.94
R2235:Or6z5 UTSW 7 6,477,441 (GRCm39) missense possibly damaging 0.94
R4441:Or6z5 UTSW 7 6,477,924 (GRCm39) missense probably benign 0.01
R4888:Or6z5 UTSW 7 6,477,612 (GRCm39) missense probably damaging 0.97
R4890:Or6z5 UTSW 7 6,477,848 (GRCm39) nonsense probably null
R5696:Or6z5 UTSW 7 6,477,742 (GRCm39) splice site probably null
R6173:Or6z5 UTSW 7 6,477,835 (GRCm39) missense probably damaging 1.00
R6643:Or6z5 UTSW 7 6,477,720 (GRCm39) missense probably benign 0.11
R7404:Or6z5 UTSW 7 6,477,163 (GRCm39) missense probably damaging 1.00
R8120:Or6z5 UTSW 7 6,477,119 (GRCm39) missense probably benign 0.02
R8961:Or6z5 UTSW 7 6,477,763 (GRCm39) missense probably benign
R9009:Or6z5 UTSW 7 6,477,399 (GRCm39) missense probably benign 0.02
R9568:Or6z5 UTSW 7 6,477,334 (GRCm39) missense probably damaging 1.00
R9744:Or6z5 UTSW 7 6,477,210 (GRCm39) missense probably benign
Z1177:Or6z5 UTSW 7 6,477,389 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- AAGACATCAAGGACGGCCTG -3'
(R):5'- GTGGTCTTGATCGCAGAAAC -3'

Sequencing Primer
(F):5'- CCTGCTGATCTTCCTAGAGAATATG -3'
(R):5'- GGTCTTGATCGCAGAAACCAACAG -3'
Posted On 2014-10-15