Incidental Mutation 'R8487:Or4a47'
ID 657770
Institutional Source Beutler Lab
Gene Symbol Or4a47
Ensembl Gene ENSMUSG00000075073
Gene Name olfactory receptor family 4 subfamily A member 47
Synonyms MOR231-1, Olfr1256, GA_x6K02T2Q125-51276848-51275928
MMRRC Submission 067930-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R8487 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 89665367-89666287 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89665609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 227 (N227D)
Ref Sequence ENSEMBL: ENSMUSP00000149123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099763] [ENSMUST00000111520] [ENSMUST00000213833] [ENSMUST00000215613]
AlphaFold Q8VGP1
Predicted Effect probably benign
Transcript: ENSMUST00000099763
AA Change: N227D

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000097351
Gene: ENSMUSG00000075073
AA Change: N227D

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 33 300 1.1e-5 PFAM
Pfam:7tm_1 39 285 5.3e-28 PFAM
Pfam:7tm_4 137 278 7.1e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111520
AA Change: N227D

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000107145
Gene: ENSMUSG00000075073
AA Change: N227D

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.5e-47 PFAM
Pfam:7TM_GPCR_Srsx 33 300 1.1e-5 PFAM
Pfam:7tm_1 39 285 1.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213833
AA Change: N227D

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000215613
AA Change: N227D

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl2 T C 3: 148,565,122 (GRCm39) I153V probably benign Het
Arhgap21 A C 2: 20,886,116 (GRCm39) S354A probably benign Het
Bcan T C 3: 87,896,516 (GRCm39) T727A probably damaging Het
Brinp1 C T 4: 68,747,692 (GRCm39) G137E probably damaging Het
Catsperd A G 17: 56,970,419 (GRCm39) Y697C probably damaging Het
Ccdc39 T A 3: 33,886,808 (GRCm39) K267* probably null Het
Ccdc47 C A 11: 106,092,971 (GRCm39) V92L possibly damaging Het
Cyp2c54 A T 19: 40,059,990 (GRCm39) I181N probably damaging Het
Ddx60 A T 8: 62,427,184 (GRCm39) D753V probably damaging Het
Dlg2 A T 7: 91,935,796 (GRCm39) K641N probably damaging Het
Eloa G A 4: 135,736,668 (GRCm39) R527C probably benign Het
Fancd2 C T 6: 113,545,187 (GRCm39) P835L probably damaging Het
Fbln2 C G 6: 91,227,846 (GRCm39) T428S probably damaging Het
Fbn2 G A 18: 58,153,462 (GRCm39) A2600V possibly damaging Het
Gbe1 A G 16: 70,233,876 (GRCm39) Y251C probably damaging Het
Gnptab T A 10: 88,268,508 (GRCm39) probably null Het
Hspa1a T A 17: 35,191,033 (GRCm39) probably benign Het
Ifi204 G A 1: 173,587,839 (GRCm39) P107S probably damaging Het
Kif6 A G 17: 49,978,164 (GRCm39) I119V probably damaging Het
Lmntd2 G A 7: 140,790,427 (GRCm39) H554Y probably benign Het
Lrrc8e C A 8: 4,284,218 (GRCm39) H148N probably damaging Het
Lrriq1 T C 10: 103,050,914 (GRCm39) N613D probably damaging Het
Map4k4 C T 1: 40,028,136 (GRCm39) T319M probably damaging Het
Mbtps1 C T 8: 120,268,413 (GRCm39) V253I probably damaging Het
Mcm4 C A 16: 15,450,042 (GRCm39) C330F probably damaging Het
Mok A G 12: 110,776,341 (GRCm39) probably null Het
Nedd4 T C 9: 72,577,321 (GRCm39) C49R probably damaging Het
Nlrp4e T C 7: 23,020,983 (GRCm39) V490A probably benign Het
Nsf A T 11: 103,819,584 (GRCm39) F27I probably damaging Het
Or10g3b A T 14: 52,586,696 (GRCm39) L269Q probably damaging Het
Or14c44 A G 7: 86,061,647 (GRCm39) S26G probably benign Het
Or5p73 G T 7: 108,064,784 (GRCm39) M84I possibly damaging Het
Or6c66 A G 10: 129,461,114 (GRCm39) I272T possibly damaging Het
Pax1 A G 2: 147,206,968 (GRCm39) M1V probably null Het
Pcdhga12 A G 18: 37,900,631 (GRCm39) T488A probably damaging Het
Plekhh2 A G 17: 84,864,909 (GRCm39) D99G possibly damaging Het
Polr3h T C 15: 81,800,824 (GRCm39) T173A probably benign Het
Pramel6 C T 2: 87,339,045 (GRCm39) L82F probably damaging Het
Ralgapa2 A T 2: 146,230,463 (GRCm39) I1034N probably damaging Het
Rbfox1 G A 16: 7,042,319 (GRCm39) V58I probably damaging Het
Reln T A 5: 22,104,027 (GRCm39) I3315L probably benign Het
Rev3l T A 10: 39,682,844 (GRCm39) S321T probably damaging Het
Ryr1 T C 7: 28,740,292 (GRCm39) T3908A probably damaging Het
Secisbp2l G T 2: 125,617,502 (GRCm39) Y58* probably null Het
Sgms1 C A 19: 32,102,697 (GRCm39) V337L probably benign Het
Slc38a2 G A 15: 96,593,172 (GRCm39) Q136* probably null Het
Smarcd1 T A 15: 99,605,657 (GRCm39) V296D probably damaging Het
Smcr8 A C 11: 60,674,822 (GRCm39) H866P probably damaging Het
Spcs1 T A 14: 30,722,721 (GRCm39) I33L probably benign Het
Stxbp5 T C 10: 9,688,033 (GRCm39) R423G possibly damaging Het
Syt4 A T 18: 31,576,790 (GRCm39) M188K possibly damaging Het
Tchhl1 A G 3: 93,376,869 (GRCm39) D22G probably damaging Het
Tiparp T A 3: 65,453,655 (GRCm39) N134K probably benign Het
Topaz1 A G 9: 122,579,001 (GRCm39) D637G possibly damaging Het
Trav14d-3-dv8 A T 14: 53,316,192 (GRCm39) probably benign Het
Vmn1r19 A T 6: 57,382,166 (GRCm39) M240L probably benign Het
Vmn1r77 T A 7: 11,775,514 (GRCm39) S29T probably damaging Het
Vps13d A G 4: 144,881,817 (GRCm39) F1253L probably benign Het
Zfp407 G A 18: 84,580,895 (GRCm39) R73* probably null Het
Zfp446 T A 7: 12,716,555 (GRCm39) F334I possibly damaging Het
Zfp654 A T 16: 64,606,011 (GRCm39) Y730* probably null Het
Other mutations in Or4a47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Or4a47 APN 2 89,665,802 (GRCm39) nonsense probably null
IGL01082:Or4a47 APN 2 89,674,407 (GRCm39) unclassified probably benign
IGL01613:Or4a47 APN 2 89,666,152 (GRCm39) missense probably damaging 0.98
IGL01969:Or4a47 APN 2 89,666,064 (GRCm39) missense probably benign 0.01
IGL02625:Or4a47 APN 2 89,665,740 (GRCm39) missense probably damaging 1.00
R0843:Or4a47 UTSW 2 89,665,960 (GRCm39) missense probably benign 0.01
R1270:Or4a47 UTSW 2 89,665,666 (GRCm39) missense possibly damaging 0.90
R1521:Or4a47 UTSW 2 89,665,516 (GRCm39) nonsense probably null
R2219:Or4a47 UTSW 2 89,665,769 (GRCm39) missense probably damaging 1.00
R2881:Or4a47 UTSW 2 89,675,328 (GRCm39) splice site probably null
R3121:Or4a47 UTSW 2 89,665,858 (GRCm39) missense probably benign
R3609:Or4a47 UTSW 2 89,665,420 (GRCm39) missense probably damaging 0.99
R4984:Or4a47 UTSW 2 89,666,157 (GRCm39) missense probably damaging 1.00
R5153:Or4a47 UTSW 2 89,665,578 (GRCm39) missense possibly damaging 0.77
R5640:Or4a47 UTSW 2 89,666,282 (GRCm39) missense probably benign 0.08
R7198:Or4a47 UTSW 2 89,666,076 (GRCm39) missense probably damaging 1.00
R7862:Or4a47 UTSW 2 89,665,468 (GRCm39) missense probably benign 0.16
R8100:Or4a47 UTSW 2 89,666,029 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ATCAAGGGGTTCATCATGGG -3'
(R):5'- TTTTGCACTCAGTAATTCAGCTCAG -3'

Sequencing Primer
(F):5'- TCATGGGGGTAATGACTGTATAAAAC -3'
(R):5'- AGCTCAGTACTATTTATGGACTTCC -3'
Posted On 2021-01-18