Incidental Mutation 'IGL02875:Or4a72'
ID 406183
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4a72
Ensembl Gene ENSMUSG00000111456
Gene Name olfactory receptor family 4 subfamily A member 72
Synonyms GA_x6K02T2Q125-51020951-51020028, MOR231-12, Olfr1245
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # IGL02875
Quality Score
Status
Chromosome 2
Chromosomal Location 89405056-89406117 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89405896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 58 (Y58C)
Ref Sequence ENSEMBL: ENSMUSP00000150791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000214870] [ENSMUST00000217402]
AlphaFold A0A1L1SQJ6
Predicted Effect probably damaging
Transcript: ENSMUST00000099766
AA Change: Y58C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097354
Gene: ENSMUSG00000100601
AA Change: Y58C

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 6e-49 PFAM
Pfam:7tm_1 39 285 2.8e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214870
AA Change: Y58C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000217402
AA Change: Y58C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,122,293 (GRCm39) I397V possibly damaging Het
Asph A G 4: 9,595,380 (GRCm39) S281P probably damaging Het
Bdnf T C 2: 109,554,196 (GRCm39) V150A probably damaging Het
Birc6 T C 17: 74,896,713 (GRCm39) V1053A probably damaging Het
Btg4 T A 9: 51,030,446 (GRCm39) F182Y probably benign Het
Casc3 T G 11: 98,712,378 (GRCm39) V139G probably damaging Het
Ccno C A 13: 113,124,586 (GRCm39) P52Q possibly damaging Het
Cdk1 T G 10: 69,178,366 (GRCm39) probably benign Het
Daam2 A C 17: 49,771,056 (GRCm39) I887S probably damaging Het
Dmrta1 A G 4: 89,579,985 (GRCm39) D315G possibly damaging Het
Dnah6 T C 6: 73,115,698 (GRCm39) I1515V probably damaging Het
Dock7 A T 4: 98,864,231 (GRCm39) I1241K probably benign Het
Fam180a T C 6: 35,290,617 (GRCm39) D122G probably damaging Het
Gm11992 C T 11: 9,002,887 (GRCm39) probably benign Het
Il1b A G 2: 129,209,171 (GRCm39) I153T probably benign Het
Kntc1 C A 5: 123,916,340 (GRCm39) probably null Het
Krt77 T C 15: 101,777,584 (GRCm39) D157G probably damaging Het
Lmbr1 A G 5: 29,497,186 (GRCm39) S72P probably damaging Het
Mphosph9 T A 5: 124,421,800 (GRCm39) probably null Het
Mpp4 C T 1: 59,175,993 (GRCm39) probably null Het
Ncbp2 T A 16: 31,772,971 (GRCm39) L36Q probably damaging Het
Or2b7 T A 13: 21,740,172 (GRCm39) S7C probably damaging Het
Or8b3 A G 9: 38,314,472 (GRCm39) M101V probably damaging Het
Oscp1 A G 4: 125,970,601 (GRCm39) D130G probably damaging Het
Pls1 A T 9: 95,636,404 (GRCm39) M615K possibly damaging Het
Prep C A 10: 45,034,529 (GRCm39) H680Q probably damaging Het
Rad1 T C 15: 10,493,365 (GRCm39) I264T probably benign Het
Rhbdf1 A G 11: 32,163,293 (GRCm39) V393A possibly damaging Het
Skint3 A T 4: 112,113,079 (GRCm39) I230L possibly damaging Het
Slc9b1 T A 3: 135,080,167 (GRCm39) probably benign Het
Slfn3 T C 11: 83,104,253 (GRCm39) Y375H probably damaging Het
Ssrp1 T A 2: 84,871,264 (GRCm39) I257N probably damaging Het
Svep1 A G 4: 58,082,821 (GRCm39) probably benign Het
Tcl1b2 T C 12: 105,120,358 (GRCm39) *118Q probably null Het
Thsd7b A G 1: 129,879,130 (GRCm39) Y989C probably damaging Het
Trim58 C T 11: 58,531,292 (GRCm39) probably benign Het
Vmn2r42 T C 7: 8,197,852 (GRCm39) T256A probably benign Het
Other mutations in Or4a72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01122:Or4a72 APN 2 89,405,767 (GRCm39) missense possibly damaging 0.68
IGL01690:Or4a72 APN 2 89,405,557 (GRCm39) missense probably benign 0.09
IGL02334:Or4a72 APN 2 89,405,668 (GRCm39) missense possibly damaging 0.95
IGL02435:Or4a72 APN 2 89,405,890 (GRCm39) missense probably damaging 0.99
IGL02793:Or4a72 APN 2 89,405,896 (GRCm39) missense probably damaging 1.00
IGL03218:Or4a72 APN 2 89,405,935 (GRCm39) missense probably benign 0.09
IGL03392:Or4a72 APN 2 89,405,593 (GRCm39) missense probably damaging 0.96
H8786:Or4a72 UTSW 2 89,405,623 (GRCm39) missense probably damaging 1.00
I0000:Or4a72 UTSW 2 89,405,497 (GRCm39) missense probably damaging 1.00
R0044:Or4a72 UTSW 2 89,405,974 (GRCm39) missense possibly damaging 0.68
R0190:Or4a72 UTSW 2 89,405,302 (GRCm39) missense probably damaging 0.98
R1585:Or4a72 UTSW 2 89,405,746 (GRCm39) missense possibly damaging 0.89
R1902:Or4a72 UTSW 2 89,405,947 (GRCm39) missense possibly damaging 0.77
R2018:Or4a72 UTSW 2 89,405,737 (GRCm39) missense probably damaging 0.97
R2019:Or4a72 UTSW 2 89,405,737 (GRCm39) missense probably damaging 0.97
R2020:Or4a72 UTSW 2 89,405,305 (GRCm39) missense possibly damaging 0.88
R2021:Or4a72 UTSW 2 89,405,305 (GRCm39) missense possibly damaging 0.88
R2030:Or4a72 UTSW 2 89,405,558 (GRCm39) missense probably benign 0.00
R2133:Or4a72 UTSW 2 89,405,600 (GRCm39) nonsense probably null
R3850:Or4a72 UTSW 2 89,405,378 (GRCm39) missense probably damaging 0.99
R4066:Or4a72 UTSW 2 89,405,523 (GRCm39) missense probably damaging 1.00
R4754:Or4a72 UTSW 2 89,405,391 (GRCm39) missense probably benign
R4923:Or4a72 UTSW 2 89,406,023 (GRCm39) missense probably damaging 0.98
R5303:Or4a72 UTSW 2 89,405,345 (GRCm39) missense possibly damaging 0.88
R5574:Or4a72 UTSW 2 89,405,321 (GRCm39) missense possibly damaging 0.94
R6083:Or4a72 UTSW 2 89,406,016 (GRCm39) missense probably benign 0.42
R6188:Or4a72 UTSW 2 89,405,538 (GRCm39) nonsense probably null
R6724:Or4a72 UTSW 2 89,405,309 (GRCm39) missense probably benign 0.26
R6964:Or4a72 UTSW 2 89,405,333 (GRCm39) missense probably benign
R7066:Or4a72 UTSW 2 89,406,047 (GRCm39) missense probably damaging 0.98
R7401:Or4a72 UTSW 2 89,405,449 (GRCm39) missense probably benign 0.27
R8232:Or4a72 UTSW 2 89,405,938 (GRCm39) missense noncoding transcript
R8558:Or4a72 UTSW 2 89,405,329 (GRCm39) missense probably damaging 1.00
R8708:Or4a72 UTSW 2 89,405,623 (GRCm39) missense probably damaging 1.00
R9482:Or4a72 UTSW 2 89,405,953 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02