Incidental Mutation 'IGL03145:Or5p72'
ID 410852
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5p72
Ensembl Gene ENSMUSG00000095239
Gene Name olfactory receptor family 5 subfamily P member 72
Synonyms MOR204-9, GA_x6K02T2PBJ9-10752603-10753547, Olfr497
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL03145
Quality Score
Status
Chromosome 7
Chromosomal Location 108021780-108022724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108021806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 9 (H9Q)
Ref Sequence ENSEMBL: ENSMUSP00000150439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076406] [ENSMUST00000213521]
AlphaFold Q8VG08
Predicted Effect probably benign
Transcript: ENSMUST00000076406
AA Change: H9Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000075741
Gene: ENSMUSG00000095239
AA Change: H9Q

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 5.5e-55 PFAM
Pfam:7tm_1 44 293 1.4e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211454
AA Change: H9Q
Predicted Effect probably benign
Transcript: ENSMUST00000213521
AA Change: H9Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik A G 10: 21,469,337 (GRCm39) D17G probably damaging Het
Adam39 C T 8: 41,277,695 (GRCm39) P29S probably benign Het
Afap1l1 T C 18: 61,874,880 (GRCm39) K434E possibly damaging Het
Akap7 T C 10: 25,115,565 (GRCm39) T187A probably damaging Het
Atp7b A C 8: 22,508,159 (GRCm39) I479S probably damaging Het
Cdh23 T A 10: 60,212,593 (GRCm39) E1606V probably damaging Het
Cnga3 A G 1: 37,300,755 (GRCm39) S530G probably damaging Het
Col13a1 A G 10: 61,727,040 (GRCm39) Y228H probably benign Het
Cybb C A X: 9,319,892 (GRCm39) E203* probably null Het
Dnah6 A T 6: 73,018,037 (GRCm39) M3594K probably damaging Het
Galnt14 C A 17: 73,811,903 (GRCm39) Q439H possibly damaging Het
Gck T A 11: 5,859,093 (GRCm39) D158V probably damaging Het
Gm5624 A G 14: 44,798,222 (GRCm39) M85T possibly damaging Het
Hgsnat A T 8: 26,436,480 (GRCm39) N557K probably damaging Het
Idua A G 5: 108,829,362 (GRCm39) T388A probably benign Het
Itgam A G 7: 127,712,191 (GRCm39) D692G probably benign Het
Lrrtm3 A G 10: 63,924,799 (GRCm39) Y123H probably benign Het
Mccc1 C T 3: 36,022,595 (GRCm39) R566H probably benign Het
Myh7 A T 14: 55,220,802 (GRCm39) L999Q probably damaging Het
Myo6 T G 9: 80,207,947 (GRCm39) Y1146* probably null Het
Nr3c1 C A 18: 39,619,313 (GRCm39) G325W probably damaging Het
Or2r11 A G 6: 42,437,434 (GRCm39) V173A probably benign Het
Or7e170 T A 9: 19,794,735 (GRCm39) I289F possibly damaging Het
Phf1 T C 17: 27,153,344 (GRCm39) probably null Het
Piezo1 T C 8: 123,209,660 (GRCm39) T2349A probably benign Het
Pih1d1 T C 7: 44,808,545 (GRCm39) probably null Het
Pold3 A G 7: 99,745,719 (GRCm39) S145P probably damaging Het
Prpf38b G T 3: 108,811,261 (GRCm39) probably benign Het
Racgap1 A T 15: 99,521,521 (GRCm39) M545K probably benign Het
Safb T C 17: 56,912,287 (GRCm39) Y802H probably damaging Het
Serpina3f A T 12: 104,183,716 (GRCm39) M193L probably benign Het
Slc43a2 G A 11: 75,459,263 (GRCm39) V432M probably benign Het
Spata2l T C 8: 123,960,075 (GRCm39) R405G possibly damaging Het
Sv2c A G 13: 96,125,606 (GRCm39) V377A probably damaging Het
Tbc1d15 C T 10: 115,038,421 (GRCm39) M597I probably benign Het
Tenm4 A T 7: 96,492,175 (GRCm39) R1036S probably damaging Het
Tjp3 A G 10: 81,119,522 (GRCm39) Y15H probably benign Het
Tkt A G 14: 30,282,645 (GRCm39) probably benign Het
Tpm2 T C 4: 43,519,447 (GRCm39) E145G probably damaging Het
Trib2 G A 12: 15,859,932 (GRCm39) H110Y probably damaging Het
Trim60 A T 8: 65,453,224 (GRCm39) S342T probably damaging Het
Ube2o T C 11: 116,434,835 (GRCm39) E542G probably damaging Het
Usp36 T C 11: 118,170,067 (GRCm39) D218G probably damaging Het
Zfp407 A G 18: 84,227,846 (GRCm39) L1921P probably damaging Het
Zfp983 G T 17: 21,877,924 (GRCm39) M42I probably damaging Het
Other mutations in Or5p72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:Or5p72 APN 7 108,022,235 (GRCm39) nonsense probably null
R0732:Or5p72 UTSW 7 108,021,784 (GRCm39) missense probably benign 0.00
R1892:Or5p72 UTSW 7 108,022,147 (GRCm39) missense possibly damaging 0.61
R2008:Or5p72 UTSW 7 108,022,389 (GRCm39) missense probably benign 0.01
R3721:Or5p72 UTSW 7 108,022,326 (GRCm39) missense probably damaging 1.00
R4497:Or5p72 UTSW 7 108,022,122 (GRCm39) missense probably benign 0.37
R4674:Or5p72 UTSW 7 108,022,309 (GRCm39) missense possibly damaging 0.65
R4675:Or5p72 UTSW 7 108,022,309 (GRCm39) missense possibly damaging 0.65
R4695:Or5p72 UTSW 7 108,022,196 (GRCm39) missense probably benign 0.18
R5265:Or5p72 UTSW 7 108,022,609 (GRCm39) missense possibly damaging 0.94
R5656:Or5p72 UTSW 7 108,021,825 (GRCm39) missense probably benign 0.03
R5758:Or5p72 UTSW 7 108,022,369 (GRCm39) missense probably benign 0.02
R6124:Or5p72 UTSW 7 108,022,725 (GRCm39) splice site probably null
R6787:Or5p72 UTSW 7 108,021,889 (GRCm39) missense possibly damaging 0.52
R7174:Or5p72 UTSW 7 108,022,367 (GRCm39) missense probably benign 0.01
R7222:Or5p72 UTSW 7 108,021,844 (GRCm39) missense probably benign 0.00
R7240:Or5p72 UTSW 7 108,022,140 (GRCm39) missense probably damaging 1.00
R8752:Or5p72 UTSW 7 108,022,480 (GRCm39) missense probably benign
R9548:Or5p72 UTSW 7 108,022,416 (GRCm39) missense possibly damaging 0.75
R9786:Or5p72 UTSW 7 108,021,924 (GRCm39) missense probably benign 0.28
Posted On 2016-08-02