Incidental Mutation 'R2356:Or56b1'
ID 246930
Institutional Source Beutler Lab
Gene Symbol Or56b1
Ensembl Gene ENSMUSG00000073923
Gene Name olfactory receptor family 56 subfamily B member 1
Synonyms MOR40-13, GA_x6K02T2PBJ9-7263864-7264823, Olfr657
MMRRC Submission 040338-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R2356 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 104284883-104285842 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 104285834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 318 (E318*)
Ref Sequence ENSEMBL: ENSMUSP00000150070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098171] [ENSMUST00000213297] [ENSMUST00000215454]
AlphaFold Q7TRP7
Predicted Effect probably null
Transcript: ENSMUST00000098171
AA Change: E318*
SMART Domains Protein: ENSMUSP00000095773
Gene: ENSMUSG00000073923
AA Change: E318*

DomainStartEndE-ValueType
Pfam:7tm_4 37 315 6.2e-74 PFAM
Pfam:7TM_GPCR_Srsx 40 312 1.2e-8 PFAM
Pfam:7tm_1 47 297 9.3e-15 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000213297
AA Change: E318*
Predicted Effect probably null
Transcript: ENSMUST00000215454
AA Change: E318*
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 G T 16: 20,379,249 (GRCm39) R705L probably benign Het
Adcy6 A T 15: 98,494,897 (GRCm39) probably null Het
Ank1 A T 8: 23,575,688 (GRCm39) T145S probably damaging Het
Aph1a T C 3: 95,801,544 (GRCm39) F21S probably benign Het
Apoa5 T A 9: 46,181,341 (GRCm39) V139E probably damaging Het
Arhgap44 T C 11: 64,900,851 (GRCm39) K595R probably damaging Het
Arhgap5 C T 12: 52,565,930 (GRCm39) P967L probably benign Het
Atp13a5 A T 16: 29,099,887 (GRCm39) I683N probably damaging Het
Cdc6 A G 11: 98,810,118 (GRCm39) T476A probably benign Het
Cdk10 T C 8: 123,955,908 (GRCm39) V199A probably damaging Het
Ces2h G A 8: 105,742,570 (GRCm39) C94Y probably damaging Het
Clcn1 G A 6: 42,268,559 (GRCm39) G155D probably damaging Het
Cxcr4 A G 1: 128,517,251 (GRCm39) Y135H probably damaging Het
Dapp1 A G 3: 137,643,510 (GRCm39) V184A possibly damaging Het
Dhrs7 A C 12: 72,699,155 (GRCm39) S276A probably benign Het
Dlg5 A G 14: 24,220,496 (GRCm39) probably null Het
Dnaaf1 T A 8: 120,315,026 (GRCm39) F278Y probably damaging Het
Dnaaf2 A G 12: 69,244,992 (GRCm39) F23S probably benign Het
En2 G T 5: 28,371,330 (GRCm39) probably benign Het
Erbb4 T A 1: 68,117,755 (GRCm39) M887L probably benign Het
Exoc5 T C 14: 49,253,738 (GRCm39) M482V probably benign Het
Foxk1 A G 5: 142,441,164 (GRCm39) I571V possibly damaging Het
Fry G A 5: 150,394,897 (GRCm39) G650D probably benign Het
Gm8225 T C 17: 26,762,378 (GRCm39) S190P probably damaging Het
Gpx5 G C 13: 21,475,538 (GRCm39) H63D possibly damaging Het
Ipo9 A T 1: 135,334,555 (GRCm39) S285T probably benign Het
Itga8 T C 2: 12,204,952 (GRCm39) H495R probably benign Het
Klf11 T C 12: 24,703,582 (GRCm39) S6P probably damaging Het
Krtap8-1 A T 16: 89,284,789 (GRCm39) Y3N possibly damaging Het
Krtap8-1 G T 16: 89,284,790 (GRCm39) Y2* probably null Het
Lama1 T A 17: 68,117,109 (GRCm39) L2468Q probably damaging Het
Lmo7 T C 14: 102,124,381 (GRCm39) L280S probably damaging Het
Matk G A 10: 81,097,377 (GRCm39) probably null Het
Mcmdc2 A G 1: 10,001,026 (GRCm39) T434A possibly damaging Het
Mst1r T A 9: 107,795,069 (GRCm39) L1283Q probably damaging Het
Muc21 A G 17: 35,932,563 (GRCm39) probably benign Het
Nbn T A 4: 15,970,863 (GRCm39) I282N probably damaging Het
Ncln A G 10: 81,328,756 (GRCm39) V174A probably benign Het
Nipa2 G A 7: 55,582,714 (GRCm39) H344Y probably benign Het
Nlrp4g A G 9: 124,349,306 (GRCm38) noncoding transcript Het
Or6c38 T C 10: 128,929,761 (GRCm39) I27M probably benign Het
Pik3r5 T C 11: 68,383,743 (GRCm39) S521P probably damaging Het
Pkhd1l1 C T 15: 44,396,415 (GRCm39) T1979M probably benign Het
Plekhn1 T G 4: 156,307,158 (GRCm39) D464A probably damaging Het
Ppp4r1 T A 17: 66,140,045 (GRCm39) Y648N probably damaging Het
Prkaa2 C T 4: 104,896,918 (GRCm39) probably null Het
Prkdc T A 16: 15,502,068 (GRCm39) H828Q probably benign Het
Prss40 A T 1: 34,598,984 (GRCm39) Y69* probably null Het
Prx C T 7: 27,207,284 (GRCm39) probably benign Het
Psmd11 T A 11: 80,319,530 (GRCm39) S7T possibly damaging Het
Psmd14 A T 2: 61,630,351 (GRCm39) H287L probably benign Het
Rcor1 T C 12: 111,076,226 (GRCm39) Y297H probably damaging Het
Rnf40 T G 7: 127,190,748 (GRCm39) V272G probably damaging Het
Serpina3f G T 12: 104,183,626 (GRCm39) E163* probably null Het
Setd4 G A 16: 93,387,871 (GRCm39) T205I probably damaging Het
Shroom1 A T 11: 53,357,274 (GRCm39) T646S probably benign Het
Smg8 G C 11: 86,976,554 (GRCm39) S342R probably benign Het
Spata31h1 A G 10: 82,119,789 (GRCm39) V4407A possibly damaging Het
Trhde T C 10: 114,237,421 (GRCm39) Y986C probably damaging Het
Tulp2 A T 7: 45,168,052 (GRCm39) T155S possibly damaging Het
Vmn1r212 A T 13: 23,068,120 (GRCm39) L71* probably null Het
Wnk2 A T 13: 49,192,644 (GRCm39) C2032* probably null Het
Zfp429 A G 13: 67,538,746 (GRCm39) Y233H probably benign Het
Zfp809 C A 9: 22,154,336 (GRCm39) T351K probably benign Het
Other mutations in Or56b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01791:Or56b1 APN 7 104,285,682 (GRCm39) missense possibly damaging 0.75
IGL01815:Or56b1 APN 7 104,285,552 (GRCm39) missense probably damaging 0.99
IGL01831:Or56b1 APN 7 104,285,267 (GRCm39) missense probably damaging 0.99
IGL02285:Or56b1 APN 7 104,284,932 (GRCm39) missense probably benign 0.06
R1529:Or56b1 UTSW 7 104,285,696 (GRCm39) missense probably benign 0.01
R1775:Or56b1 UTSW 7 104,285,366 (GRCm39) missense probably benign 0.01
R3809:Or56b1 UTSW 7 104,285,540 (GRCm39) missense possibly damaging 0.76
R4011:Or56b1 UTSW 7 104,285,555 (GRCm39) missense probably benign
R4206:Or56b1 UTSW 7 104,285,356 (GRCm39) missense possibly damaging 0.52
R4520:Or56b1 UTSW 7 104,285,376 (GRCm39) missense probably damaging 0.99
R4551:Or56b1 UTSW 7 104,285,631 (GRCm39) missense probably damaging 1.00
R6394:Or56b1 UTSW 7 104,285,234 (GRCm39) missense possibly damaging 0.78
R6394:Or56b1 UTSW 7 104,284,909 (GRCm39) missense possibly damaging 0.59
R6477:Or56b1 UTSW 7 104,284,886 (GRCm39) missense probably benign 0.00
R6727:Or56b1 UTSW 7 104,285,094 (GRCm39) missense probably damaging 0.99
R7554:Or56b1 UTSW 7 104,285,733 (GRCm39) missense probably benign
R8435:Or56b1 UTSW 7 104,285,657 (GRCm39) missense probably benign 0.17
R8557:Or56b1 UTSW 7 104,285,103 (GRCm39) missense possibly damaging 0.46
R9021:Or56b1 UTSW 7 104,285,291 (GRCm39) missense probably benign 0.01
R9023:Or56b1 UTSW 7 104,285,291 (GRCm39) missense probably benign 0.01
R9024:Or56b1 UTSW 7 104,285,291 (GRCm39) missense probably benign 0.01
R9072:Or56b1 UTSW 7 104,285,291 (GRCm39) missense probably benign 0.01
R9072:Or56b1 UTSW 7 104,285,291 (GRCm39) missense probably benign 0.01
R9073:Or56b1 UTSW 7 104,285,291 (GRCm39) missense probably benign 0.01
R9074:Or56b1 UTSW 7 104,285,291 (GRCm39) missense probably benign 0.01
R9076:Or56b1 UTSW 7 104,285,291 (GRCm39) missense probably benign 0.01
R9077:Or56b1 UTSW 7 104,285,618 (GRCm39) missense probably damaging 1.00
R9077:Or56b1 UTSW 7 104,285,291 (GRCm39) missense probably benign 0.01
X0065:Or56b1 UTSW 7 104,285,401 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TGAACACTTGTAGCTCCCACC -3'
(R):5'- GATGGTCTAGTGAACAGTCTTTCC -3'

Sequencing Primer
(F):5'- CTACACTGTTGTTGTAGTGATTTCAG -3'
(R):5'- GTCTAGTGAACAGTCTTTCCATATTC -3'
Posted On 2014-10-30