Incidental Mutation 'IGL02342:Or51b4'
ID 289157
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 # IGL02342
Quality Score
Status
Chromosome 7
Chromosomal Location 103530513-103531448 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103530587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 288 (I288F)
Ref Sequence ENSEMBL: ENSMUSP00000149058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079117] [ENSMUST00000216303]
AlphaFold F8VQ01
Predicted Effect probably benign
Transcript: ENSMUST00000079117
AA Change: I288F

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000078119
Gene: ENSMUSG00000058200
AA Change: I288F

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 probably benign
Transcript: ENSMUST00000216303
AA Change: I288F

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik C A 10: 43,050,997 (GRCm39) P97Q probably damaging Het
Abcb10 A T 8: 124,688,773 (GRCm39) V501E probably damaging Het
Acsf3 T C 8: 123,544,237 (GRCm39) Y572H probably benign Het
Adamts3 A T 5: 89,839,332 (GRCm39) probably null Het
Alox8 A G 11: 69,077,053 (GRCm39) L480P probably damaging Het
Arhgap35 G A 7: 16,296,305 (GRCm39) T920I probably benign Het
Brca2 C A 5: 150,466,289 (GRCm39) L2018M possibly damaging Het
Brdt C A 5: 107,490,069 (GRCm39) H45N probably damaging Het
C1s2 A G 6: 124,609,075 (GRCm39) F155L probably damaging Het
Ccser2 A G 14: 36,640,562 (GRCm39) probably benign Het
Cd8a T A 6: 71,350,723 (GRCm39) C63S probably damaging Het
Clk2 A T 3: 89,082,998 (GRCm39) T424S probably benign Het
Cntn1 A G 15: 92,143,898 (GRCm39) E287G probably benign Het
Cobl A C 11: 12,203,672 (GRCm39) V928G possibly damaging Het
Col12a1 A G 9: 79,557,178 (GRCm39) probably null Het
Crnkl1 A T 2: 145,766,633 (GRCm39) probably null Het
Defb26 T C 2: 152,350,121 (GRCm39) N53S possibly damaging Het
Duox1 A T 2: 122,177,793 (GRCm39) T1526S probably damaging Het
Dync2h1 A G 9: 7,142,246 (GRCm39) L1233P probably damaging Het
Eif5a2 A G 3: 28,847,910 (GRCm39) E116G possibly damaging Het
Garin1b A G 6: 29,323,829 (GRCm39) T185A possibly damaging Het
Gdap2 G A 3: 100,085,632 (GRCm39) A185T probably damaging Het
Grm8 T C 6: 27,363,803 (GRCm39) R571G probably benign Het
Hjv G A 3: 96,435,488 (GRCm39) D249N possibly damaging Het
Hsp90b1 T C 10: 86,531,603 (GRCm39) probably null Het
Ift70a1 G T 2: 75,810,976 (GRCm39) T369K probably benign Het
Ighv1-75 T G 12: 115,797,878 (GRCm39) probably benign Het
Ikzf1 A G 11: 11,650,216 (GRCm39) probably benign Het
Itprid2 A G 2: 79,490,629 (GRCm39) N943S probably benign Het
Kdm4d A G 9: 14,374,860 (GRCm39) W333R probably damaging Het
Lama3 A T 18: 12,624,533 (GRCm39) N1426I probably damaging Het
Lmbrd1 A G 1: 24,743,959 (GRCm39) Y119C probably damaging Het
Mctp1 A G 13: 77,172,976 (GRCm39) Y884C probably damaging Het
Naip6 G T 13: 100,439,748 (GRCm39) P340T possibly damaging Het
Nfkbib G T 7: 28,461,528 (GRCm39) H70N probably damaging Het
Nol4 A T 18: 22,903,926 (GRCm39) probably benign Het
Obscn C T 11: 58,891,914 (GRCm39) A6873T probably benign Het
Or2ag1 A G 7: 106,313,232 (GRCm39) S219P probably benign Het
Or6x1 T A 9: 40,098,823 (GRCm39) N137K probably benign Het
Paqr6 A G 3: 88,273,491 (GRCm39) Y136C probably damaging Het
Pcdh18 T A 3: 49,710,493 (GRCm39) D274V probably damaging Het
Phip A G 9: 82,768,745 (GRCm39) Y1196H probably damaging Het
Prc1 T C 7: 79,959,190 (GRCm39) L345S probably damaging Het
Smpdl3a A G 10: 57,685,276 (GRCm39) probably benign Het
Tac1 G T 6: 7,559,119 (GRCm39) probably null Het
Tasor T A 14: 27,198,624 (GRCm39) S1319T possibly damaging Het
Tg A G 15: 66,636,140 (GRCm39) T576A probably benign Het
Thbs2 A T 17: 14,896,578 (GRCm39) D770E probably damaging Het
Tmem117 T C 15: 94,909,331 (GRCm39) V248A possibly damaging Het
Trpm8 T C 1: 88,255,972 (GRCm39) I209T possibly damaging Het
Wrap53 A G 11: 69,454,417 (GRCm39) F244L probably damaging Het
Wrap73 A T 4: 154,233,237 (GRCm39) Q137L probably benign Het
Zfhx4 A T 3: 5,467,434 (GRCm39) T2531S probably benign Het
Other mutations in Or51b4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03105:Or51b4 APN 7 103,531,339 (GRCm39) missense possibly damaging 0.55
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 2015-04-16