Incidental Mutation 'IGL03105:Or51b4'
ID 418922
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51b4
Ensembl Gene ENSMUSG00000058200
Gene Name olfactory receptor family 51 subfamily B member 4
Synonyms GA_x6K02T2PBJ9-6620959-6620024, 5'[b]1, Olfr66, MOR1-3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.161) question?
Stock # IGL03105
Quality Score
Status
Chromosome 7
Chromosomal Location 103530513-103531448 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103531339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 37 (I37T)
Ref Sequence ENSEMBL: ENSMUSP00000149058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079117] [ENSMUST00000216303]
AlphaFold F8VQ01
Predicted Effect possibly damaging
Transcript: ENSMUST00000079117
AA Change: I37T

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000078119
Gene: ENSMUSG00000058200
AA Change: I37T

DomainStartEndE-ValueType
Pfam:7tm_4 29 308 3.9e-113 PFAM
Pfam:7TM_GPCR_Srsx 32 300 9.7e-7 PFAM
Pfam:7tm_1 39 290 8.4e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120890
Predicted Effect possibly damaging
Transcript: ENSMUST00000216303
AA Change: I37T

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss1 A G 12: 112,599,155 (GRCm39) I129V probably benign Het
Ankrd35 A G 3: 96,591,373 (GRCm39) H553R probably benign Het
Brca2 A G 5: 150,483,950 (GRCm39) K2923R probably benign Het
Cadm3 A T 1: 173,172,583 (GRCm39) L174M probably damaging Het
Car10 T C 11: 92,991,101 (GRCm39) V17A probably benign Het
Cep290 A G 10: 100,387,686 (GRCm39) K1956E possibly damaging Het
Cfhr1 T A 1: 139,475,565 (GRCm39) probably benign Het
Crim1 A T 17: 78,623,179 (GRCm39) probably benign Het
Dedd G A 1: 171,168,486 (GRCm39) R224H probably damaging Het
F7 A T 8: 13,084,001 (GRCm39) I229L probably null Het
Igkv17-121 A T 6: 68,014,284 (GRCm39) Q112L probably damaging Het
Kcnk13 G A 12: 100,027,369 (GRCm39) R148Q probably damaging Het
Klk13 T C 7: 43,370,904 (GRCm39) L51P probably benign Het
Ldb2 A G 5: 44,956,715 (GRCm39) S41P possibly damaging Het
Magi2 A G 5: 20,748,616 (GRCm39) D767G probably damaging Het
Mical3 T C 6: 121,019,199 (GRCm39) T8A probably benign Het
Mkln1 G T 6: 31,435,994 (GRCm39) E318* probably null Het
Mx1 C T 16: 97,257,554 (GRCm39) V68I possibly damaging Het
Mylk2 T C 2: 152,759,279 (GRCm39) V350A possibly damaging Het
Nav2 T A 7: 49,114,627 (GRCm39) S870R probably damaging Het
Onecut2 A T 18: 64,474,579 (GRCm39) K358* probably null Het
Or52n2c A T 7: 104,574,971 (GRCm39) probably benign Het
Or7a40 T C 16: 16,491,390 (GRCm39) T152A probably benign Het
Or7g16 T C 9: 18,726,685 (GRCm39) R302G probably benign Het
Orai3 A G 7: 127,372,725 (GRCm39) probably benign Het
Rad54b A G 4: 11,615,569 (GRCm39) N859S probably benign Het
Saxo4 A G 19: 10,454,384 (GRCm39) probably benign Het
Sec23b C T 2: 144,423,940 (GRCm39) R530W probably damaging Het
Slc25a35 T C 11: 68,859,496 (GRCm39) F3S probably damaging Het
Slc7a11 A T 3: 50,326,788 (GRCm39) I491K possibly damaging Het
Srrt A T 5: 137,298,106 (GRCm39) N317K possibly damaging Het
Sspo T C 6: 48,450,592 (GRCm39) probably benign Het
Taf2 A C 15: 54,909,195 (GRCm39) D683E probably benign Het
Tasor T A 14: 27,164,509 (GRCm39) C272S probably damaging Het
Tcerg1l G T 7: 137,850,173 (GRCm39) probably benign Het
Tg G T 15: 66,586,955 (GRCm39) V1578F probably benign Het
Tmem43 G A 6: 91,457,682 (GRCm39) G188D probably damaging Het
Tnfrsf8 T C 4: 145,025,354 (GRCm39) Y73C probably damaging Het
Ttc21a A G 9: 119,771,642 (GRCm39) Y147C probably benign Het
Ttn T C 2: 76,608,394 (GRCm39) D17843G probably damaging Het
Ttn T A 2: 76,642,521 (GRCm39) D11592V probably damaging Het
Tubgcp5 T A 7: 55,475,329 (GRCm39) I842N probably damaging Het
Unc80 A T 1: 66,511,258 (GRCm39) T89S probably damaging Het
Usp28 T C 9: 48,950,355 (GRCm39) M928T probably damaging Het
Usp43 A G 11: 67,770,802 (GRCm39) S611P possibly damaging Het
Utp20 A G 10: 88,626,958 (GRCm39) V1000A probably benign Het
Zfp263 T C 16: 3,566,824 (GRCm39) C380R probably damaging Het
Zfyve1 A C 12: 83,605,413 (GRCm39) C14G probably damaging Het
Other mutations in Or51b4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02342:Or51b4 APN 7 103,530,587 (GRCm39) missense probably benign 0.16
IGL02935:Or51b4 APN 7 103,530,871 (GRCm39) missense probably damaging 1.00
IGL03033:Or51b4 APN 7 103,530,724 (GRCm39) missense probably damaging 1.00
R1081:Or51b4 UTSW 7 103,531,384 (GRCm39) missense possibly damaging 0.87
R1780:Or51b4 UTSW 7 103,530,799 (GRCm39) missense probably benign 0.00
R4470:Or51b4 UTSW 7 103,530,956 (GRCm39) missense probably benign 0.02
R4724:Or51b4 UTSW 7 103,530,856 (GRCm39) missense probably benign 0.02
R5463:Or51b4 UTSW 7 103,530,541 (GRCm39) missense probably benign
R5498:Or51b4 UTSW 7 103,530,839 (GRCm39) missense probably damaging 0.97
R5987:Or51b4 UTSW 7 103,530,907 (GRCm39) missense probably damaging 0.99
R6054:Or51b4 UTSW 7 103,531,033 (GRCm39) missense probably damaging 0.98
R7815:Or51b4 UTSW 7 103,530,992 (GRCm39) missense probably benign 0.16
R8026:Or51b4 UTSW 7 103,530,904 (GRCm39) missense possibly damaging 0.96
R9114:Or51b4 UTSW 7 103,530,569 (GRCm39) missense possibly damaging 0.96
R9570:Or51b4 UTSW 7 103,530,856 (GRCm39) missense probably benign 0.02
Posted On 2016-08-02