Incidental Mutation 'R4521:Or51b6b'
ID 334223
Institutional Source Beutler Lab
Gene Symbol Or51b6b
Ensembl Gene ENSMUSG00000099687
Gene Name olfactory receptor family 51 subfamily B member 6B
Synonyms Olfr623, GA_x6K02T2PBJ9-6384836-6383883, MOR1-4
MMRRC Submission 041764-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.184) question?
Stock # R4521 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103309451-103310525 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103309539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 306 (R306H)
Ref Sequence ENSEMBL: ENSMUSP00000150141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068531] [ENSMUST00000213840]
AlphaFold E9Q382
Predicted Effect probably benign
Transcript: ENSMUST00000068531
AA Change: R306H

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000070658
Gene: ENSMUSG00000099687
AA Change: R306H

DomainStartEndE-ValueType
Pfam:7tm_4 32 310 1.7e-112 PFAM
Pfam:7TM_GPCR_Srsx 36 299 3.1e-7 PFAM
Pfam:7tm_1 42 293 2.6e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213840
AA Change: R306H

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Meta Mutation Damage Score 0.0733 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (49/49)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 A G 10: 50,536,766 (GRCm39) N700D probably benign Het
Bora G T 14: 99,305,984 (GRCm39) S451I probably damaging Het
Cadm3 A T 1: 173,172,630 (GRCm39) probably null Het
Car14 A G 3: 95,811,690 (GRCm39) probably benign Het
Ccdc88c G T 12: 100,879,591 (GRCm39) S1843R possibly damaging Het
Cdc20b A G 13: 113,217,725 (GRCm39) I381M probably damaging Het
Col12a1 C T 9: 79,540,639 (GRCm39) V2449I probably benign Het
Crb2 T C 2: 37,685,349 (GRCm39) probably benign Het
Dcaf6 A T 1: 165,218,059 (GRCm39) D347E probably damaging Het
Dlgap2 G A 8: 14,777,871 (GRCm39) R372H probably damaging Het
Fat3 T C 9: 15,834,238 (GRCm39) N4118S probably null Het
Fbxo41 A G 6: 85,461,024 (GRCm39) I228T probably damaging Het
Fpr2 A C 17: 18,113,509 (GRCm39) R168S probably benign Het
Ghr A G 15: 3,355,440 (GRCm39) I281T probably damaging Het
Glmp C A 3: 88,235,346 (GRCm39) N259K possibly damaging Het
Grhl3 T C 4: 135,273,561 (GRCm39) K564E probably damaging Het
Helz2 T C 2: 180,870,626 (GRCm39) H2875R probably benign Het
Lcp1 A G 14: 75,452,608 (GRCm39) D438G possibly damaging Het
Lrfn2 T A 17: 49,376,922 (GRCm39) M1K probably null Het
Lrp6 A G 6: 134,462,825 (GRCm39) C612R probably damaging Het
Map3k13 T C 16: 21,724,525 (GRCm39) V341A possibly damaging Het
Megf8 T A 7: 25,042,126 (GRCm39) C1315S probably benign Het
Mrgpra9 A T 7: 46,884,938 (GRCm39) L243H probably damaging Het
Mrgprx1 T C 7: 47,671,447 (GRCm39) D100G probably benign Het
Nop2 G T 6: 125,110,515 (GRCm39) R47L probably damaging Het
Nup93 T C 8: 95,041,264 (GRCm39) Y801H probably damaging Het
Or6c69b T A 10: 129,627,050 (GRCm39) N136I possibly damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Plce1 T C 19: 38,512,763 (GRCm39) S21P possibly damaging Het
Plpp2 A G 10: 79,366,459 (GRCm39) Y118H probably damaging Het
Ppwd1 A G 13: 104,346,167 (GRCm39) V496A probably benign Het
Rbm20 A G 19: 53,805,633 (GRCm39) N466S probably benign Het
Rpl10l T C 12: 66,330,512 (GRCm39) D207G probably benign Het
Skida1 T C 2: 18,050,683 (GRCm39) probably benign Het
Stk17b A G 1: 53,803,197 (GRCm39) Y73H probably damaging Het
Tapbpl A G 6: 125,205,085 (GRCm39) I287T probably damaging Het
Tmem38a C T 8: 73,326,005 (GRCm39) P20S possibly damaging Het
Topbp1 T C 9: 103,211,401 (GRCm39) probably benign Het
Tsen54 G A 11: 115,707,932 (GRCm39) probably null Het
Ttn G A 2: 76,555,560 (GRCm39) R28736* probably null Het
Wdr36 G A 18: 32,974,201 (GRCm39) probably null Het
Other mutations in Or51b6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00969:Or51b6b APN 7 103,310,274 (GRCm39) missense probably damaging 0.99
IGL01669:Or51b6b APN 7 103,310,194 (GRCm39) missense probably benign 0.02
IGL01731:Or51b6b APN 7 103,310,053 (GRCm39) missense probably benign 0.01
IGL02057:Or51b6b APN 7 103,309,860 (GRCm39) missense probably damaging 1.00
IGL02249:Or51b6b APN 7 103,309,573 (GRCm39) missense probably damaging 0.99
IGL02937:Or51b6b APN 7 103,310,112 (GRCm39) missense probably damaging 1.00
IGL03113:Or51b6b APN 7 103,309,851 (GRCm39) missense possibly damaging 0.90
R0413:Or51b6b UTSW 7 103,309,957 (GRCm39) missense possibly damaging 0.52
R0862:Or51b6b UTSW 7 103,309,735 (GRCm39) missense probably damaging 1.00
R1262:Or51b6b UTSW 7 103,309,648 (GRCm39) missense probably benign 0.33
R1791:Or51b6b UTSW 7 103,310,005 (GRCm39) splice site probably null
R2327:Or51b6b UTSW 7 103,309,779 (GRCm39) missense probably damaging 1.00
R2338:Or51b6b UTSW 7 103,309,617 (GRCm39) missense possibly damaging 0.90
R4831:Or51b6b UTSW 7 103,309,678 (GRCm39) missense probably benign 0.40
R5322:Or51b6b UTSW 7 103,309,879 (GRCm39) missense possibly damaging 0.62
R6270:Or51b6b UTSW 7 103,309,620 (GRCm39) missense possibly damaging 0.48
R6959:Or51b6b UTSW 7 103,310,050 (GRCm39) missense probably damaging 1.00
R7157:Or51b6b UTSW 7 103,309,788 (GRCm39) missense probably damaging 1.00
R7181:Or51b6b UTSW 7 103,310,020 (GRCm39) missense probably damaging 0.99
R7570:Or51b6b UTSW 7 103,310,088 (GRCm39) missense probably damaging 1.00
R9037:Or51b6b UTSW 7 103,310,382 (GRCm39) missense probably benign 0.32
R9234:Or51b6b UTSW 7 103,309,950 (GRCm39) missense possibly damaging 0.96
R9525:Or51b6b UTSW 7 103,310,142 (GRCm39) missense probably damaging 1.00
X0066:Or51b6b UTSW 7 103,309,867 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- AAGTGAGATCTTTACATGGTGCTTC -3'
(R):5'- TCAACACATGTGTCTCCCATATCTG -3'

Sequencing Primer
(F):5'- TGTTTCTCCTGCCTGAAAT -3'
(R):5'- GTTGCATCTTGGTCTTCTATGTCAC -3'
Posted On 2015-08-18