Incidental Mutation 'R4789:Or56a3b'
ID 367318
Institutional Source Beutler Lab
Gene Symbol Or56a3b
Ensembl Gene ENSMUSG00000095248
Gene Name olfactory receptor family 56 subfamily A member 3B
Synonyms MOR40-14, GA_x6K02T2PBJ9-7750163-7751110, Olfr681
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.398) question?
Stock # R4789 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 104770666-104771613 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 104771520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 285 (H285Q)
Ref Sequence ENSEMBL: ENSMUSP00000095760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071242] [ENSMUST00000098157] [ENSMUST00000214399] [ENSMUST00000215517] [ENSMUST00000216247] [ENSMUST00000215564]
AlphaFold Q3SXH8
Predicted Effect probably benign
Transcript: ENSMUST00000071242
SMART Domains Protein: ENSMUSP00000071223
Gene: ENSMUSG00000059768

DomainStartEndE-ValueType
Pfam:7tm_4 23 299 1.2e-71 PFAM
Pfam:7TM_GPCR_Srsx 27 297 3.9e-10 PFAM
Pfam:7tm_1 33 283 3.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071242
Predicted Effect probably null
Transcript: ENSMUST00000098157
AA Change: H285Q

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000095760
Gene: ENSMUSG00000095248
AA Change: H285Q

DomainStartEndE-ValueType
Pfam:7tm_4 35 313 2e-72 PFAM
Pfam:7TM_GPCR_Srsx 39 311 6.1e-10 PFAM
Pfam:7tm_1 45 296 7.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214399
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215180
Predicted Effect probably benign
Transcript: ENSMUST00000215517
AA Change: H285Q

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000216247
AA Change: H285Q

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000215564
AA Change: H285Q

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.4%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik C A 7: 115,692,757 (GRCm39) D20E probably benign Het
Abcb9 T A 5: 124,216,853 (GRCm39) M455L probably benign Het
Add2 G A 6: 86,095,752 (GRCm39) V475M probably benign Het
Apoh T A 11: 108,300,064 (GRCm39) Y238N probably damaging Het
Arpp21 A G 9: 111,896,360 (GRCm39) S681P probably benign Het
Atp1a3 A C 7: 24,698,389 (GRCm39) F149C probably damaging Het
B9d1 A G 11: 61,397,186 (GRCm39) D27G probably benign Het
Bfar T A 16: 13,503,001 (GRCm39) M1K probably null Het
Bok T C 1: 93,616,963 (GRCm39) V103A probably damaging Het
Brca1 A C 11: 101,414,758 (GRCm39) H1125Q probably benign Het
Card9 T A 2: 26,247,632 (GRCm39) M218L probably damaging Het
Cers1 T C 8: 70,776,018 (GRCm39) V303A probably damaging Het
Col6a5 T C 9: 105,814,534 (GRCm39) I493V unknown Het
Coro7 T C 16: 4,446,085 (GRCm39) Y880C probably damaging Het
Cyp2b19 T C 7: 26,463,801 (GRCm39) Y318H probably benign Het
Dennd3 T A 15: 73,394,131 (GRCm39) L52Q probably damaging Het
Dlat A T 9: 50,570,670 (GRCm39) C33S probably benign Het
Dmxl2 T A 9: 54,287,099 (GRCm39) Q2646L probably benign Het
Dnah3 T C 7: 119,610,295 (GRCm39) N1703D probably damaging Het
Dock10 T A 1: 80,518,998 (GRCm39) H1241L probably damaging Het
Fbxl17 T G 17: 63,794,910 (GRCm39) I391L probably benign Het
Fdxacb1 A G 9: 50,681,418 (GRCm39) D113G possibly damaging Het
Flii A G 11: 60,605,919 (GRCm39) S1185P probably benign Het
Gm14496 A T 2: 181,637,577 (GRCm39) Q217L possibly damaging Het
Heatr9 A T 11: 83,410,018 (GRCm39) D74E probably benign Het
Heca C A 10: 17,783,895 (GRCm39) E91* probably null Het
Ikzf4 T G 10: 128,468,575 (GRCm39) T635P probably benign Het
Kif17 C T 4: 138,008,688 (GRCm39) P382S probably damaging Het
Kmt5b T C 19: 3,865,330 (GRCm39) V775A probably benign Het
Mapk8ip2 T A 15: 89,343,241 (GRCm39) F661Y probably damaging Het
Mapkap1 A G 2: 34,423,859 (GRCm39) E111G possibly damaging Het
Med9 T A 11: 59,839,266 (GRCm39) N58K probably benign Het
Mid2 T A X: 139,578,981 (GRCm39) Y61N probably damaging Het
Mief1 T A 15: 80,132,080 (GRCm39) Y50* probably null Het
Mios T C 6: 8,235,429 (GRCm39) M859T probably benign Het
Muc5ac G T 7: 141,352,619 (GRCm39) C702F possibly damaging Het
Nkiras1 T C 14: 18,276,935 (GRCm38) probably benign Het
Or11i1 A C 3: 106,729,608 (GRCm39) I89R possibly damaging Het
Or11i1 T A 3: 106,729,624 (GRCm39) M84L possibly damaging Het
Or5ae2 T A 7: 84,506,509 (GRCm39) C311S probably benign Het
Pcsk5 C T 19: 17,410,963 (GRCm39) V1810M probably benign Het
Pex1 T C 5: 3,680,270 (GRCm39) V964A probably damaging Het
Pgm2l1 A T 7: 99,916,794 (GRCm39) M471L probably benign Het
Pkd1l2 T C 8: 117,738,314 (GRCm39) T2182A probably damaging Het
Plscr1l1 G A 9: 92,233,084 (GRCm39) C69Y probably damaging Het
Polr1b T A 2: 128,951,257 (GRCm39) I290K probably benign Het
Prkg1 T A 19: 31,563,045 (GRCm39) M119L probably damaging Het
Rbl1 A G 2: 157,019,275 (GRCm39) V490A probably benign Het
Shtn1 G C 19: 59,039,305 (GRCm39) R45G probably damaging Het
Slc10a6 T A 5: 103,776,848 (GRCm39) Y84F probably benign Het
Slc25a23 T C 17: 57,366,597 (GRCm39) D26G probably damaging Het
Slc41a2 T C 10: 83,152,320 (GRCm39) K52E probably damaging Het
Slc4a5 T C 6: 83,247,951 (GRCm39) F501L probably benign Het
Slfn5 T A 11: 82,847,226 (GRCm39) M37K probably benign Het
Sptbn1 A C 11: 30,067,759 (GRCm39) F1818L probably benign Het
Taf3 T C 2: 9,956,770 (GRCm39) T466A probably damaging Het
Thbs2 C T 17: 14,891,750 (GRCm39) G929D probably damaging Het
Tmc3 A T 7: 83,271,746 (GRCm39) D995V probably damaging Het
Tmem262 T C 19: 6,130,452 (GRCm39) F59L possibly damaging Het
Triobp A G 15: 78,875,228 (GRCm39) D137G probably damaging Het
Tspear T C 10: 77,702,199 (GRCm39) F211L possibly damaging Het
Ttn A T 2: 76,728,670 (GRCm39) probably benign Het
Ugt2b5 T A 5: 87,287,550 (GRCm39) M206L probably benign Het
Ush1g A T 11: 115,209,466 (GRCm39) S243T probably damaging Het
Usp19 A T 9: 108,370,433 (GRCm39) T86S possibly damaging Het
Wdhd1 A G 14: 47,506,149 (GRCm39) V255A probably benign Het
Wdr11 G A 7: 129,220,394 (GRCm39) W594* probably null Het
Wnk3 T A X: 149,993,933 (GRCm39) Y331* probably null Het
Zfp429 A T 13: 67,538,523 (GRCm39) I307K probably benign Het
Zkscan14 T A 5: 145,132,444 (GRCm39) K362N probably damaging Het
Other mutations in Or56a3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Or56a3b APN 7 104,771,614 (GRCm39) splice site probably null
IGL01664:Or56a3b APN 7 104,771,423 (GRCm39) missense probably damaging 1.00
IGL02691:Or56a3b APN 7 104,771,338 (GRCm39) missense probably damaging 1.00
IGL02839:Or56a3b APN 7 104,771,563 (GRCm39) missense probably damaging 1.00
R0533:Or56a3b UTSW 7 104,771,557 (GRCm39) missense probably benign 0.11
R1139:Or56a3b UTSW 7 104,771,180 (GRCm39) missense probably damaging 1.00
R1857:Or56a3b UTSW 7 104,770,751 (GRCm39) missense probably benign 0.00
R4153:Or56a3b UTSW 7 104,771,516 (GRCm39) missense probably damaging 0.99
R4391:Or56a3b UTSW 7 104,770,793 (GRCm39) missense possibly damaging 0.60
R4537:Or56a3b UTSW 7 104,776,227 (GRCm39) missense probably damaging 1.00
R4671:Or56a3b UTSW 7 104,771,513 (GRCm39) missense probably damaging 1.00
R5215:Or56a3b UTSW 7 104,775,771 (GRCm39) missense probably damaging 1.00
R6080:Or56a3b UTSW 7 104,771,116 (GRCm39) missense probably benign 0.19
R6194:Or56a3b UTSW 7 104,771,377 (GRCm39) missense probably benign 0.07
R7054:Or56a3b UTSW 7 104,771,170 (GRCm39) nonsense probably null
R7186:Or56a3b UTSW 7 104,771,473 (GRCm39) missense probably benign 0.12
R7528:Or56a3b UTSW 7 104,771,071 (GRCm39) missense probably damaging 1.00
R8035:Or56a3b UTSW 7 104,770,757 (GRCm39) missense probably damaging 1.00
R8364:Or56a3b UTSW 7 104,770,910 (GRCm39) missense probably damaging 1.00
R8433:Or56a3b UTSW 7 104,770,931 (GRCm39) missense probably damaging 1.00
R8468:Or56a3b UTSW 7 104,770,685 (GRCm39) missense probably benign
R9001:Or56a3b UTSW 7 104,771,447 (GRCm39) missense probably damaging 1.00
R9129:Or56a3b UTSW 7 104,771,223 (GRCm39) missense probably benign 0.00
R9453:Or56a3b UTSW 7 104,770,817 (GRCm39) missense
R9705:Or56a3b UTSW 7 104,770,841 (GRCm39) missense probably damaging 1.00
Z1176:Or56a3b UTSW 7 104,771,329 (GRCm39) missense probably damaging 1.00
Z1176:Or56a3b UTSW 7 104,771,327 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGCTGAGACTCAAGGCAG -3'
(R):5'- CCTGAATGAGATAGGGAATTTGC -3'

Sequencing Primer
(F):5'- CTGAGACTCAAGGCAGAGGGTG -3'
(R):5'- CCTCATTAGAATGTTCTGAGTTAGTG -3'
Posted On 2015-12-29