Incidental Mutation 'R6011:Or6c8b'
ID 479758
Institutional Source Beutler Lab
Gene Symbol Or6c8b
Ensembl Gene ENSMUSG00000056853
Gene Name olfactory receptor family 6 subfamily C member 8B
Synonyms Olfr765, MOR115-4, GA_x6K02T2PULF-10732607-10731678
MMRRC Submission 043253-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R6011 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 128882001-128882930 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128882508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 141 (H141Q)
Ref Sequence ENSEMBL: ENSMUSP00000150725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071559] [ENSMUST00000216460]
AlphaFold Q7TRI6
Predicted Effect probably benign
Transcript: ENSMUST00000071559
AA Change: H141Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071490
Gene: ENSMUSG00000056853
AA Change: H141Q

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.4e-49 PFAM
Pfam:7tm_1 39 288 7.8e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216460
AA Change: H141Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,136,570 (GRCm39) N533K probably benign Het
Adamts15 G T 9: 30,814,082 (GRCm39) H694Q probably damaging Het
Adcy5 T C 16: 34,977,598 (GRCm39) L377P probably benign Het
Add2 T C 6: 86,075,607 (GRCm39) L252P probably damaging Het
Amer1 ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC X: 94,470,889 (GRCm39) probably benign Het
Ankrd13d A G 19: 4,331,962 (GRCm39) L39P probably damaging Het
Asic1 G T 15: 99,596,960 (GRCm39) A541S probably benign Het
Bhmt1b A G 18: 87,774,663 (GRCm39) E62G probably damaging Het
Bpifb2 A G 2: 153,731,496 (GRCm39) probably null Het
Catsper3 A G 13: 55,934,305 (GRCm39) I75M probably damaging Het
Ccser2 T C 14: 36,601,532 (GRCm39) E837G probably benign Het
Clasp2 C T 9: 113,705,315 (GRCm39) P557L probably benign Het
Clstn2 C T 9: 97,338,579 (GRCm39) R860Q probably benign Het
Cplx3 A T 9: 57,523,038 (GRCm39) D140E probably damaging Het
Cyp2c66 A G 19: 39,130,380 (GRCm39) K72E probably benign Het
Cyp3a44 A G 5: 145,738,084 (GRCm39) probably null Het
Disp2 G A 2: 118,621,301 (GRCm39) V678I possibly damaging Het
Dock4 T C 12: 40,867,756 (GRCm39) probably null Het
Eml3 T C 19: 8,916,471 (GRCm39) Y688H probably damaging Het
Fam187a A G 11: 102,776,267 (GRCm39) K24E probably damaging Het
Fhit T C 14: 9,870,068 (GRCm38) K134E probably benign Het
Foxl3 A G 5: 138,807,374 (GRCm39) *217W probably null Het
Gm16485 A T 9: 8,972,454 (GRCm39) probably benign Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Hmgxb3 G A 18: 61,296,096 (GRCm39) T304I probably damaging Het
Lgsn A G 1: 31,242,847 (GRCm39) S310G probably damaging Het
Muc21 T A 17: 35,933,074 (GRCm39) probably benign Het
Niban2 T C 2: 32,812,877 (GRCm39) Y482H probably damaging Het
Or12e13 A G 2: 87,664,259 (GRCm39) N292S probably damaging Het
Or4k42 C A 2: 111,320,192 (GRCm39) A104S probably benign Het
Or7g25 T A 9: 19,159,807 (GRCm39) E296V probably damaging Het
Or9i1b G A 19: 13,896,521 (GRCm39) V46I probably benign Het
Pelo A G 13: 115,226,302 (GRCm39) S52P probably benign Het
Prune2 A G 19: 17,096,080 (GRCm39) N528S probably benign Het
Rfc3 T A 5: 151,567,184 (GRCm39) I291L probably damaging Het
Rpl35 A T 2: 38,894,813 (GRCm39) probably null Het
Sectm1b C T 11: 120,946,704 (GRCm39) V64I possibly damaging Het
Serpina12 A G 12: 104,001,993 (GRCm39) M241T probably damaging Het
Serpina1a T A 12: 103,823,728 (GRCm39) D195V probably damaging Het
Sesn2 C T 4: 132,226,708 (GRCm39) V129M probably damaging Het
Slc4a1 A C 11: 102,243,357 (GRCm39) V758G probably damaging Het
Tmx4 A T 2: 134,481,756 (GRCm39) Y56N probably damaging Het
Traj50 T C 14: 54,405,091 (GRCm39) probably benign Het
Trio T G 15: 27,735,631 (GRCm39) K2820Q probably damaging Het
Ttc28 G A 5: 111,434,309 (GRCm39) G2417S probably benign Het
Usp32 T C 11: 84,922,923 (GRCm39) D665G possibly damaging Het
Other mutations in Or6c8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Or6c8b APN 10 128,882,380 (GRCm39) missense probably benign 0.06
IGL01697:Or6c8b APN 10 128,882,371 (GRCm39) missense probably damaging 1.00
R0313:Or6c8b UTSW 10 128,882,695 (GRCm39) missense possibly damaging 0.61
R0346:Or6c8b UTSW 10 128,882,342 (GRCm39) missense possibly damaging 0.90
R1114:Or6c8b UTSW 10 128,882,711 (GRCm39) missense possibly damaging 0.95
R1157:Or6c8b UTSW 10 128,882,027 (GRCm39) missense probably benign 0.35
R2351:Or6c8b UTSW 10 128,882,797 (GRCm39) missense probably benign
R5119:Or6c8b UTSW 10 128,882,711 (GRCm39) missense possibly damaging 0.95
R5531:Or6c8b UTSW 10 128,882,433 (GRCm39) missense probably damaging 1.00
R5540:Or6c8b UTSW 10 128,882,364 (GRCm39) missense probably damaging 0.96
R5756:Or6c8b UTSW 10 128,882,095 (GRCm39) missense probably benign 0.04
R7021:Or6c8b UTSW 10 128,882,899 (GRCm39) missense probably damaging 0.99
R7257:Or6c8b UTSW 10 128,882,324 (GRCm39) missense probably benign 0.13
R7330:Or6c8b UTSW 10 128,882,333 (GRCm39) missense probably damaging 0.97
R9235:Or6c8b UTSW 10 128,882,051 (GRCm39) missense probably benign 0.04
R9335:Or6c8b UTSW 10 128,882,614 (GRCm39) missense probably damaging 1.00
R9594:Or6c8b UTSW 10 128,882,354 (GRCm39) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- AGTTACCAGCATTAGAGTCACCAC -3'
(R):5'- GGTCAGCATTACAACGGGAAAC -3'

Sequencing Primer
(F):5'- GCATTAGAGTCACCACCAGGG -3'
(R):5'- ACAAGAGTATTAGCTTTGCTGGC -3'
Posted On 2017-06-26