Incidental Mutation 'IGL02793:Or4a72'
ID 359827
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 # IGL02793
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,122,293 (GRCm39) I397V possibly damaging Het
Bco2 A T 9: 50,455,834 (GRCm39) V173E probably damaging Het
Bdnf T C 2: 109,554,196 (GRCm39) V150A probably damaging Het
Cdh15 T A 8: 123,587,721 (GRCm39) V215E probably damaging Het
Col6a2 A T 10: 76,432,144 (GRCm39) I1003N possibly damaging Het
Daam2 A C 17: 49,771,056 (GRCm39) I887S probably damaging Het
Dnajb13 C T 7: 100,156,648 (GRCm39) D143N probably damaging Het
Fabp3-ps1 T A 10: 86,567,943 (GRCm39) probably benign Het
Gid4 G A 11: 60,323,256 (GRCm39) R116Q probably benign Het
Hectd2 A G 19: 36,564,821 (GRCm39) E34G probably damaging Het
Hyal6 A T 6: 24,734,378 (GRCm39) K104* probably null Het
Il1b A G 2: 129,209,171 (GRCm39) I153T probably benign Het
Kdm3b A G 18: 34,962,072 (GRCm39) M1499V probably damaging Het
Kntc1 C A 5: 123,916,340 (GRCm39) probably null Het
Lmbr1 A G 5: 29,497,186 (GRCm39) S72P probably damaging Het
Lrrc2 T C 9: 110,808,695 (GRCm39) probably null Het
Map2k5 T C 9: 63,164,321 (GRCm39) I328V probably benign Het
Mphosph9 T A 5: 124,421,800 (GRCm39) probably null Het
Mpp4 C T 1: 59,175,993 (GRCm39) probably null Het
Ndrg3 A G 2: 156,791,952 (GRCm39) probably null Het
Ndufa10 A C 1: 92,397,639 (GRCm39) Y136D probably damaging Het
Or10ak9 A T 4: 118,726,794 (GRCm39) D271V probably damaging Het
Or2b7 T A 13: 21,740,172 (GRCm39) S7C probably damaging Het
Or8g34 A G 9: 39,372,802 (GRCm39) E22G probably benign Het
Rab18 T C 18: 6,788,474 (GRCm39) probably benign 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
Rrp12 A G 19: 41,860,005 (GRCm39) L1025P probably damaging Het
Rtca A G 3: 116,286,726 (GRCm39) F302S probably damaging Het
Slc9b1 T A 3: 135,080,167 (GRCm39) probably benign Het
Sspo A T 6: 48,464,828 (GRCm39) probably benign Het
Ssrp1 T A 2: 84,871,264 (GRCm39) I257N probably damaging Het
Sval2 A C 6: 41,838,795 (GRCm39) Y11S 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
Tlr4 A C 4: 66,757,681 (GRCm39) H158P probably damaging Het
Vmn2r42 T C 7: 8,197,852 (GRCm39) T256A probably benign Het
Xdh T C 17: 74,207,576 (GRCm39) E927G probably damaging Het
Yap1 T C 9: 7,973,907 (GRCm39) N178S 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
IGL02875: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 2015-12-18