Incidental Mutation 'R8838:Or6c1b'
ID 674278
Institutional Source Beutler Lab
Gene Symbol Or6c1b
Ensembl Gene ENSMUSG00000095696
Gene Name olfactory receptor family 6 subfamily C member 1B
Synonyms MOR111-5, Olfr786, GA_x6K02T2PULF-11116958-11117896
MMRRC Submission 068666-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R8838 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 129272683-129273621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 129273065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 128 (L128R)
Ref Sequence ENSEMBL: ENSMUSP00000145099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076508] [ENSMUST00000204529]
AlphaFold Q8VFH8
Predicted Effect probably damaging
Transcript: ENSMUST00000076508
AA Change: L128R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075827
Gene: ENSMUSG00000095696
AA Change: L128R

DomainStartEndE-ValueType
Pfam:7tm_4 28 306 1.9e-53 PFAM
Pfam:7tm_1 39 288 7.3e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204529
AA Change: L128R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145099
Gene: ENSMUSG00000095696
AA Change: L128R

DomainStartEndE-ValueType
Pfam:7tm_4 28 306 1.9e-53 PFAM
Pfam:7tm_1 39 288 7.3e-20 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (52/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T A 11: 109,920,881 (GRCm39) I1498F probably damaging Het
Aco2 T A 15: 81,796,128 (GRCm39) N508K probably damaging Het
Aff4 T C 11: 53,297,465 (GRCm39) S896P possibly damaging Het
Anapc2 T G 2: 25,163,546 (GRCm39) V261G probably benign Het
Atm A G 9: 53,427,851 (GRCm39) S420P probably damaging Het
Bag6 C T 17: 35,363,367 (GRCm39) R736C probably damaging Het
Brca2 A G 5: 150,465,005 (GRCm39) T1590A possibly damaging Het
Cacna2d3 C T 14: 28,691,220 (GRCm39) C35Y probably benign Het
Cep170b G A 12: 112,710,159 (GRCm39) R1433H probably damaging Het
Cmtm2a A G 8: 105,008,036 (GRCm39) C138R probably damaging Het
Cntnap5c T A 17: 58,198,964 (GRCm39) V86E Het
Cog7 A G 7: 121,549,106 (GRCm39) I385T probably damaging Het
Col28a1 A T 6: 8,091,839 (GRCm39) probably null Het
Dkk3 T C 7: 111,717,542 (GRCm39) E309G probably benign Het
Dnah10 T C 5: 124,842,614 (GRCm39) V1411A probably benign Het
Enox1 G T 14: 77,819,950 (GRCm39) R235L probably benign Het
Foxn1 T C 11: 78,252,438 (GRCm39) N317D possibly damaging Het
Grip2 G A 6: 91,762,721 (GRCm39) probably benign Het
Hmmr T C 11: 40,604,854 (GRCm39) T406A probably benign Het
Hpcal1 G A 12: 17,836,197 (GRCm39) R9H probably benign Het
Iglv3 A T 16: 19,060,132 (GRCm39) Y65* probably null Het
Itgal A G 7: 126,910,433 (GRCm39) Y514C probably damaging Het
Kcnk9 T C 15: 72,418,019 (GRCm39) E37G possibly damaging Het
Klhl40 A G 9: 121,609,107 (GRCm39) D424G probably benign Het
Lbr A G 1: 181,648,294 (GRCm39) L389P possibly damaging Het
Ly9 A G 1: 171,421,569 (GRCm39) Y561H probably damaging Het
Mcoln3 T C 3: 145,845,126 (GRCm39) F441L probably damaging Het
Muc20 G T 16: 32,613,829 (GRCm39) T516K possibly damaging Het
Naa35 T C 13: 59,775,775 (GRCm39) M551T probably benign Het
Nkx6-2 T A 7: 139,161,868 (GRCm39) T170S probably damaging Het
Nlrp4c T A 7: 6,069,337 (GRCm39) F413I Het
Or10w1 G A 19: 13,632,371 (GRCm39) V193M probably damaging Het
Or1s2 C A 19: 13,758,381 (GRCm39) T133K probably benign Het
Or8k22 T C 2: 86,163,317 (GRCm39) K128E possibly damaging Het
Pcdhga10 C T 18: 37,881,952 (GRCm39) T571I possibly damaging Het
Pla2g4a A T 1: 149,747,256 (GRCm39) M310K probably benign Het
Plaa T C 4: 94,471,791 (GRCm39) T353A probably benign Het
Rapgef1 T C 2: 29,627,458 (GRCm39) F1172S possibly damaging Het
Rfx2 T C 17: 57,087,877 (GRCm39) T505A possibly damaging Het
Rfx4 T C 10: 84,676,758 (GRCm39) V216A probably damaging Het
Rps6kb2 G T 19: 4,211,183 (GRCm39) A114D probably damaging Het
Sdc2 T A 15: 33,023,897 (GRCm39) L92* probably null Het
Slc18b1 A G 10: 23,696,764 (GRCm39) Y319C probably benign Het
Slc22a15 A T 3: 101,790,849 (GRCm39) Y219N probably damaging Het
Tarbp1 A T 8: 127,177,569 (GRCm39) probably benign Het
Tfap2d T C 1: 19,175,036 (GRCm39) L163P possibly damaging Het
Trank1 A G 9: 111,193,973 (GRCm39) I666V probably benign Het
Trav14-1 G T 14: 53,792,009 (GRCm39) A120S probably damaging Het
Trps1 T A 15: 50,753,007 (GRCm39) N20I probably benign Het
Txndc16 A G 14: 45,378,028 (GRCm39) Y682H probably damaging Het
Ube4a A T 9: 44,837,261 (GRCm39) D991E probably damaging Het
Zswim4 C T 8: 84,940,699 (GRCm39) R800Q probably damaging Het
Other mutations in Or6c1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02295:Or6c1b APN 10 129,272,903 (GRCm39) missense possibly damaging 0.95
IGL03027:Or6c1b APN 10 129,272,780 (GRCm39) missense probably damaging 1.00
IGL03177:Or6c1b APN 10 129,272,684 (GRCm39) start codon destroyed probably null 0.82
IGL03216:Or6c1b APN 10 129,272,806 (GRCm39) missense probably damaging 0.98
IGL03265:Or6c1b APN 10 129,272,794 (GRCm39) missense possibly damaging 0.83
R0080:Or6c1b UTSW 10 129,273,140 (GRCm39) missense possibly damaging 0.85
R0082:Or6c1b UTSW 10 129,273,140 (GRCm39) missense possibly damaging 0.85
R0242:Or6c1b UTSW 10 129,273,217 (GRCm39) missense probably damaging 1.00
R0242:Or6c1b UTSW 10 129,273,217 (GRCm39) missense probably damaging 1.00
R0507:Or6c1b UTSW 10 129,273,157 (GRCm39) missense probably benign 0.00
R1432:Or6c1b UTSW 10 129,272,807 (GRCm39) missense probably damaging 1.00
R1563:Or6c1b UTSW 10 129,273,580 (GRCm39) missense probably benign
R2023:Or6c1b UTSW 10 129,273,451 (GRCm39) missense probably damaging 0.99
R2142:Or6c1b UTSW 10 129,273,616 (GRCm39) missense probably benign 0.14
R2279:Or6c1b UTSW 10 129,273,526 (GRCm39) missense probably benign 0.07
R3412:Or6c1b UTSW 10 129,273,176 (GRCm39) missense probably damaging 0.99
R4467:Or6c1b UTSW 10 129,272,933 (GRCm39) missense probably benign 0.04
R4529:Or6c1b UTSW 10 129,273,287 (GRCm39) missense probably benign 0.03
R4843:Or6c1b UTSW 10 129,273,316 (GRCm39) missense probably benign 0.01
R4888:Or6c1b UTSW 10 129,273,248 (GRCm39) missense possibly damaging 0.95
R4890:Or6c1b UTSW 10 129,272,948 (GRCm39) missense probably benign 0.08
R6255:Or6c1b UTSW 10 129,273,557 (GRCm39) missense possibly damaging 0.95
R6362:Or6c1b UTSW 10 129,272,812 (GRCm39) missense probably damaging 1.00
R6705:Or6c1b UTSW 10 129,272,941 (GRCm39) missense probably benign 0.00
R7270:Or6c1b UTSW 10 129,273,319 (GRCm39) missense probably benign
R7450:Or6c1b UTSW 10 129,273,298 (GRCm39) missense probably benign 0.00
R7803:Or6c1b UTSW 10 129,272,800 (GRCm39) missense probably damaging 1.00
R7856:Or6c1b UTSW 10 129,272,885 (GRCm39) missense probably damaging 1.00
R8725:Or6c1b UTSW 10 129,273,334 (GRCm39) missense probably benign 0.02
R8727:Or6c1b UTSW 10 129,273,334 (GRCm39) missense probably benign 0.02
R9180:Or6c1b UTSW 10 129,272,858 (GRCm39) missense probably damaging 0.99
R9663:Or6c1b UTSW 10 129,272,929 (GRCm39) missense probably damaging 0.97
R9688:Or6c1b UTSW 10 129,272,967 (GRCm39) nonsense probably null
X0052:Or6c1b UTSW 10 129,273,368 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCACCTCCAGACTCCCATGT -3'
(R):5'- TCTGAACAGGAAAGTTGAAGCAG -3'

Sequencing Primer
(F):5'- AGACTCCCATGTATTTCTTCCTTAGG -3'
(R):5'- GTTGAAGCAGAGGGAAATAATCAC -3'
Posted On 2021-07-15