Incidental Mutation 'R6787:Or6c3b'
ID 532444
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 044901-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R6787 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 129526982-129527908 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129527391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 173 (D173V)
Ref Sequence ENSEMBL: ENSMUSP00000145400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056736] [ENSMUST00000203785] [ENSMUST00000204641] [ENSMUST00000217576]
AlphaFold Q8VFI3
Predicted Effect possibly damaging
Transcript: ENSMUST00000056736
AA Change: D173V

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000055860
Gene: ENSMUSG00000046041
AA Change: D173V

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 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 possibly damaging
Transcript: ENSMUST00000204641
AA Change: D173V

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145400
Gene: ENSMUSG00000046041
AA Change: D173V

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 96% (51/53)
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
2700097O09Rik G A 12: 55,126,768 (GRCm39) T32I probably benign Het
4930486L24Rik T A 13: 61,000,922 (GRCm39) I205L probably benign Het
Aatk C T 11: 119,901,508 (GRCm39) V963M probably damaging Het
Adra1b C A 11: 43,726,242 (GRCm39) R225L probably damaging Het
Adrb1 T C 19: 56,711,021 (GRCm39) V73A probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
BC035947 G T 1: 78,475,527 (GRCm39) P335Q possibly damaging Het
C2cd3 T C 7: 100,104,553 (GRCm39) F2189L probably benign Het
Capn9 A G 8: 125,342,924 (GRCm39) I635V probably benign Het
Cep55 T A 19: 38,046,374 (GRCm39) D42E probably benign Het
Cftr T A 6: 18,274,607 (GRCm39) Y878* probably null Het
Clpb A T 7: 101,312,866 (GRCm39) probably benign Het
Cpeb3 T C 19: 37,022,089 (GRCm39) I569V possibly damaging Het
Cpne6 A T 14: 55,752,701 (GRCm39) D297V probably damaging Het
Ddhd1 T C 14: 45,894,976 (GRCm39) T165A probably benign Het
Fam98b T C 2: 117,093,402 (GRCm39) probably null Het
Frem2 T C 3: 53,561,744 (GRCm39) N921S probably benign Het
Gbf1 T A 19: 46,260,211 (GRCm39) V1039E probably benign Het
Gmip A G 8: 70,266,436 (GRCm39) E212G probably damaging Het
Gpcpd1 C T 2: 132,379,758 (GRCm39) probably benign Het
Gtf2ird1 A T 5: 134,392,766 (GRCm39) N796K probably damaging Het
Hadhb T C 5: 30,360,247 (GRCm39) probably benign Het
Itga4 T A 2: 79,119,609 (GRCm39) S472T probably damaging Het
Kcna4 G A 2: 107,125,670 (GRCm39) E135K possibly damaging Het
Kmt2c G T 5: 25,480,737 (GRCm39) probably null Het
Lama1 T C 17: 68,091,020 (GRCm39) I1620T unknown Het
Lins1 A G 7: 66,363,902 (GRCm39) E594G probably benign Het
Lrrc38 T A 4: 143,096,364 (GRCm39) M225K probably benign Het
Mphosph9 A G 5: 124,399,090 (GRCm39) I975T probably damaging Het
Mrgprh T C 17: 13,095,874 (GRCm39) F38S probably benign Het
Myo1h G A 5: 114,458,714 (GRCm39) G150R probably damaging Het
Oas2 T G 5: 120,876,863 (GRCm39) I391L possibly damaging Het
Or4a70 T A 2: 89,324,378 (GRCm39) R93* probably null Het
Or5p72 T C 7: 108,021,889 (GRCm39) I37T possibly damaging Het
Or7e178 T C 9: 20,247,221 (GRCm39) D14G probably benign Het
Pdcd5 T C 7: 35,342,063 (GRCm39) T182A probably damaging Het
Pdlim7 T C 13: 55,656,810 (GRCm39) D48G probably damaging Het
Polr3b A C 10: 84,464,489 (GRCm39) probably null Het
Psmd5 C T 2: 34,747,649 (GRCm39) probably null Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Homo
Sdhb T C 4: 140,703,501 (GRCm39) Y208H probably damaging Het
Serinc5 G A 13: 92,842,740 (GRCm39) V397I possibly damaging Het
Sik2 A T 9: 50,909,834 (GRCm39) M73K possibly damaging Het
Slc41a1 A G 1: 131,770,487 (GRCm39) probably null Het
Slco1a1 T C 6: 141,882,213 (GRCm39) I119V probably benign Het
Srd5a1 T C 13: 69,759,418 (GRCm39) probably benign Het
Stab2 T C 10: 86,754,948 (GRCm39) I1111V probably benign Het
Stxbp6 G T 12: 44,949,779 (GRCm39) probably null Het
Tbc1d19 A G 5: 53,992,591 (GRCm39) probably null Het
Tnxb A T 17: 34,929,710 (GRCm39) T2815S probably benign Het
Txnip T A 3: 96,467,623 (GRCm39) I363N probably damaging Het
Zfp442 A T 2: 150,251,499 (GRCm39) N134K possibly 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
R6166:Or6c3b UTSW 10 129,527,148 (GRCm39) missense probably damaging 1.00
R6543:Or6c3b UTSW 10 129,527,859 (GRCm39) missense probably benign 0.09
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'- TGGAGATGACAATCATGTGCG -3'
(R):5'- CCGCTATGTCTTACGATCGTTATG -3'

Sequencing Primer
(F):5'- ACAGGTGGAGAAAGCCTTTTTCC -3'
(R):5'- ACGATCGTTATGTTGCCATCTG -3'
Posted On 2018-08-29