Incidental Mutation 'R6166:Or6c3b'
ID 490152
Institutional Source Beutler Lab
Gene Symbol Or6c3b
Ensembl Gene ENSMUSG00000046041
Gene Name olfactory receptor family 6 subfamily C member 3B
Synonyms GA_x6K02T2PULF-11370664-11369738, MOR111-3, Olfr803
MMRRC Submission 044312-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R6166 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 129526982-129527908 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129527148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 254 (I254K)
Ref Sequence ENSEMBL: ENSMUSP00000145400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056736] [ENSMUST00000203785] [ENSMUST00000204641] [ENSMUST00000217576]
AlphaFold Q8VFI3
Predicted Effect probably damaging
Transcript: ENSMUST00000056736
AA Change: I254K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000055860
Gene: ENSMUSG00000046041
AA Change: I254K

DomainStartEndE-ValueType
Pfam:7tm_4 28 306 6.2e-51 PFAM
Pfam:7TM_GPCR_Srsx 33 303 3.8e-6 PFAM
Pfam:7tm_1 39 288 3.2e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157522
Predicted Effect probably benign
Transcript: ENSMUST00000203785
SMART Domains Protein: ENSMUSP00000144741
Gene: ENSMUSG00000093866

DomainStartEndE-ValueType
Pfam:7tm_4 28 305 6.8e-56 PFAM
Pfam:7tm_1 39 288 2.5e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204641
AA Change: I254K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145400
Gene: ENSMUSG00000046041
AA Change: I254K

DomainStartEndE-ValueType
Pfam:7tm_4 29 307 2.9e-49 PFAM
Pfam:7tm_1 39 288 8.3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217576
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency 97% (57/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot2 A T 12: 84,039,378 (GRCm39) N296Y probably damaging Het
Ago2 T A 15: 72,996,089 (GRCm39) I347L probably benign Het
Aldh1l2 C T 10: 83,329,288 (GRCm39) probably null Het
Ap1ar A G 3: 127,606,177 (GRCm39) probably null Het
Arap3 T C 18: 38,107,423 (GRCm39) T1365A probably damaging Het
Arhgef17 A T 7: 100,525,699 (GRCm39) H1966Q probably damaging Het
Arpp21 T C 9: 111,948,266 (GRCm39) T668A probably benign Het
Atg13 G T 2: 91,506,736 (GRCm39) Q479K probably damaging Het
Bmp8a T C 4: 123,218,471 (GRCm39) T183A probably benign Het
Camta2 G C 11: 70,565,087 (GRCm39) probably null Het
Catspere2 A G 1: 177,931,403 (GRCm39) T441A unknown Het
Ccdc40 T C 11: 119,122,827 (GRCm39) S210P probably benign Het
Cnn2 A G 10: 79,824,561 (GRCm39) E17G possibly damaging Het
Cnot6l T C 5: 96,227,799 (GRCm39) D478G possibly damaging Het
Cplane1 A G 15: 8,216,044 (GRCm39) H478R probably benign Het
Csf2rb A G 15: 78,228,766 (GRCm39) Y369C probably damaging Het
Dll4 A G 2: 119,165,107 (GRCm39) probably null Het
Efcab6 A G 15: 83,780,316 (GRCm39) V1039A probably benign Het
Fam117a T C 11: 95,271,607 (GRCm39) M393T possibly damaging Het
Fancd2 T A 6: 113,532,212 (GRCm39) N508K possibly damaging Het
Fat1 T C 8: 45,405,522 (GRCm39) S758P probably damaging Het
Fgf20 T C 8: 40,732,881 (GRCm39) K186E probably damaging Het
Filip1 T C 9: 79,726,736 (GRCm39) K628E probably damaging Het
Fsip2 G T 2: 82,811,071 (GRCm39) K2463N probably benign Het
Gm15446 T A 5: 110,090,646 (GRCm39) Y299* probably null Het
Gm7363 A T 7: 3,986,784 (GRCm39) noncoding transcript Het
Gpx5 A T 13: 21,473,435 (GRCm39) F104I probably damaging Het
Grip1 A T 10: 119,908,623 (GRCm39) I618F probably damaging Het
Hmcn2 G A 2: 31,259,274 (GRCm39) G1038D probably damaging Het
Lgals9 C T 11: 78,862,184 (GRCm39) A134T probably benign Het
Lrba G A 3: 86,261,614 (GRCm39) probably null Het
Lypd10 A T 7: 24,413,644 (GRCm39) Q220L probably benign Het
Naprt T C 15: 75,763,326 (GRCm39) Q439R possibly damaging Het
Ndufs6 G A 13: 73,466,060 (GRCm39) probably benign Het
Nodal C A 10: 61,260,337 (GRCm39) S329R probably damaging Het
Olfm3 T A 3: 114,916,074 (GRCm39) N315K probably damaging Het
Or4k2 C T 14: 50,424,225 (GRCm39) V150I probably benign Het
Or6k2 A G 1: 173,986,659 (GRCm39) T107A probably benign Het
Plg T A 17: 12,617,001 (GRCm39) V373E probably damaging Het
Prdm2 A C 4: 142,861,306 (GRCm39) S661R probably damaging Het
Psg21 A T 7: 18,390,664 (GRCm39) probably benign Het
Rhobtb2 T C 14: 70,035,627 (GRCm39) D148G probably damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Scaf11 A T 15: 96,322,543 (GRCm39) N116K probably damaging Het
Sf3a3 T C 4: 124,617,177 (GRCm39) probably benign Homo
Slc38a9 T G 13: 112,831,801 (GRCm39) Y184D possibly damaging Het
Sowahc A G 10: 59,058,182 (GRCm39) D106G probably benign Het
Srbd1 T C 17: 86,406,696 (GRCm39) Y563C probably damaging Het
Src A G 2: 157,310,442 (GRCm39) Y359C probably damaging Het
Tbc1d9b A G 11: 50,026,673 (GRCm39) D47G probably damaging Het
Tctn3 T C 19: 40,585,923 (GRCm39) K541E possibly damaging Het
Tgm7 A G 2: 120,929,539 (GRCm39) V245A probably damaging Het
Thbs2 C T 17: 14,900,650 (GRCm39) R519H probably damaging Het
Tm4sf19 T C 16: 32,226,681 (GRCm39) S157P probably damaging Het
Trio C T 15: 27,818,157 (GRCm39) S507N probably damaging Het
Trrap T A 5: 144,718,791 (GRCm39) H152Q possibly damaging Het
Vmn2r56 A G 7: 12,427,947 (GRCm39) L773P probably damaging Het
Vmn2r70 A G 7: 85,215,189 (GRCm39) L115P probably benign Het
Wdr59 C T 8: 112,199,293 (GRCm39) R631H probably damaging Het
Other mutations in Or6c3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Or6c3b APN 10 129,527,323 (GRCm39) missense probably benign 0.00
IGL01298:Or6c3b APN 10 129,527,898 (GRCm39) missense probably damaging 0.98
IGL02008:Or6c3b APN 10 129,527,887 (GRCm39) missense probably benign 0.02
IGL02166:Or6c3b APN 10 129,527,782 (GRCm39) missense probably benign 0.12
IGL02598:Or6c3b APN 10 129,527,142 (GRCm39) missense possibly damaging 0.89
IGL03158:Or6c3b APN 10 129,527,587 (GRCm39) missense probably benign 0.01
IGL03393:Or6c3b APN 10 129,527,147 (GRCm39) missense probably damaging 0.99
R2246:Or6c3b UTSW 10 129,527,812 (GRCm39) missense probably damaging 1.00
R3749:Or6c3b UTSW 10 129,527,830 (GRCm39) missense probably benign
R5060:Or6c3b UTSW 10 129,527,699 (GRCm39) missense probably benign
R5116:Or6c3b UTSW 10 129,527,266 (GRCm39) missense probably damaging 1.00
R5253:Or6c3b UTSW 10 129,527,601 (GRCm39) missense probably damaging 0.99
R6543:Or6c3b UTSW 10 129,527,859 (GRCm39) missense probably benign 0.09
R6787:Or6c3b UTSW 10 129,527,391 (GRCm39) missense possibly damaging 0.88
R6828:Or6c3b UTSW 10 129,527,863 (GRCm39) missense probably damaging 1.00
R7284:Or6c3b UTSW 10 129,527,220 (GRCm39) missense probably benign
R7510:Or6c3b UTSW 10 129,527,789 (GRCm39) missense probably damaging 1.00
R8488:Or6c3b UTSW 10 129,527,343 (GRCm39) missense probably damaging 1.00
R8887:Or6c3b UTSW 10 129,527,372 (GRCm39) nonsense probably null
R9257:Or6c3b UTSW 10 129,527,003 (GRCm39) missense probably benign 0.01
R9323:Or6c3b UTSW 10 129,527,829 (GRCm39) missense probably benign 0.42
Predicted Primers PCR Primer
(F):5'- CTGGGCTACAAAGAACAAGC -3'
(R):5'- CTTGGCTCCTAGAAGTGATTGG -3'

Sequencing Primer
(F):5'- ACAATGGCATGTGTTCGTATAAAC -3'
(R):5'- GCTCCTAGAAGTGATTGGTTTCTATG -3'
Posted On 2017-10-10