Incidental Mutation 'IGL02572:Or5aq7'
ID 299041
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5aq7
Ensembl Gene ENSMUSG00000075160
Gene Name olfactory receptor family 5 subfamily AQ member 7
Synonyms Olfr259, MOR172-3, GA_x6K02T2N869-1820-882
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL02572
Quality Score
Status
Chromosome 2
Chromosomal Location 86937791-86938729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86938710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 7 (T7I)
Ref Sequence ENSEMBL: ENSMUSP00000151207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099862] [ENSMUST00000213978] [ENSMUST00000215828] [ENSMUST00000216088]
AlphaFold Q7TS20
Predicted Effect possibly damaging
Transcript: ENSMUST00000099862
AA Change: T7I

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097448
Gene: ENSMUSG00000075160
AA Change: T7I

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3.6e-53 PFAM
Pfam:7tm_1 41 290 5.3e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213978
AA Change: T7I

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215828
AA Change: T7I

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216088
AA Change: T7I

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; 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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630001G21Rik T C 1: 85,652,892 (GRCm39) N92S probably damaging Het
Abca2 T C 2: 25,323,329 (GRCm39) L99P possibly damaging Het
Adam19 T A 11: 46,022,548 (GRCm39) Y500* probably null Het
Amy1 A T 3: 113,358,722 (GRCm39) probably benign Het
Aox3 T C 1: 58,197,526 (GRCm39) I624T probably damaging Het
Atad3a C T 4: 155,838,041 (GRCm39) D244N possibly damaging Het
Atp5mf C A 5: 145,124,047 (GRCm39) probably benign Het
Bbof1 G A 12: 84,475,139 (GRCm39) D443N probably damaging Het
Bod1l G A 5: 41,978,573 (GRCm39) Q914* probably null Het
C330011M18Rik A G 8: 84,793,208 (GRCm39) probably benign Het
Cgref1 A G 5: 31,090,911 (GRCm39) V301A probably benign Het
Coa6 T C 8: 127,149,480 (GRCm39) Y19H probably damaging Het
Cop1 T A 1: 159,136,448 (GRCm39) probably benign Het
Dmrta1 T C 4: 89,579,795 (GRCm39) S252P probably benign Het
Dnaaf5 T G 5: 139,170,384 (GRCm39) S484A probably benign Het
Dspp A T 5: 104,324,935 (GRCm39) S433C probably damaging Het
Efcab5 G A 11: 77,028,714 (GRCm39) R206* probably null Het
Epop A T 11: 97,519,027 (GRCm39) S361T probably benign Het
Fat3 T A 9: 15,871,802 (GRCm39) T3530S probably benign Het
Flvcr1 A G 1: 190,757,843 (GRCm39) Y108H probably damaging Het
Fsip2 T G 2: 82,822,347 (GRCm39) S6027A probably benign Het
Galnt14 A G 17: 73,842,262 (GRCm39) L209P probably damaging Het
Hif3a C A 7: 16,784,513 (GRCm39) R25L probably null Het
Hsf5 A G 11: 87,522,521 (GRCm39) probably benign Het
Il22ra2 A T 10: 19,502,492 (GRCm39) T104S probably benign Het
Klrk1 A G 6: 129,592,316 (GRCm39) S138P probably damaging Het
Lrp5 G T 19: 3,664,283 (GRCm39) Q815K probably benign Het
Morn4 A G 19: 42,064,886 (GRCm39) probably benign Het
Nlrp14 T A 7: 106,781,929 (GRCm39) Y375* probably null Het
Nsd1 T A 13: 55,443,943 (GRCm39) M1714K probably damaging Het
Or2aj6 T A 16: 19,443,848 (GRCm39) M1L probably benign Het
Or6c213 T A 10: 129,574,735 (GRCm39) D17V possibly damaging Het
Pappa2 C T 1: 158,678,786 (GRCm39) A877T probably benign Het
Pcsk2 G A 2: 143,532,262 (GRCm39) A137T probably damaging Het
Piezo1 A G 8: 123,212,044 (GRCm39) V2054A probably benign Het
Rad52 A G 6: 119,892,188 (GRCm39) probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rusf1 A T 7: 127,889,752 (GRCm39) probably benign Het
Sbno1 A G 5: 124,519,740 (GRCm39) probably benign Het
Scrn1 C T 6: 54,489,186 (GRCm39) D312N probably benign Het
Sin3b A G 8: 73,471,109 (GRCm39) Q352R probably benign Het
Slc25a28 A G 19: 43,652,885 (GRCm39) Y259H probably damaging Het
Sppl2a T C 2: 126,768,216 (GRCm39) M151V probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stra8 G A 6: 34,916,094 (GRCm39) D280N probably damaging Het
Thbs2 A T 17: 14,897,275 (GRCm39) D744E possibly damaging Het
Tiparp A G 3: 65,439,310 (GRCm39) T27A probably benign Het
Tmem38a T C 8: 73,333,818 (GRCm39) F99S probably damaging Het
Tmod3 T C 9: 75,416,667 (GRCm39) T222A probably benign Het
Tnn A G 1: 159,913,677 (GRCm39) I1272T probably damaging Het
Tnpo1 A T 13: 98,985,667 (GRCm39) I829N probably damaging Het
Trpm5 A T 7: 142,641,613 (GRCm39) probably benign Het
Ttn A G 2: 76,598,215 (GRCm39) V19566A probably damaging Het
V1ra8 A G 6: 90,180,040 (GRCm39) D81G probably damaging Het
Zdhhc20 A G 14: 58,127,564 (GRCm39) V25A probably benign Het
Other mutations in Or5aq7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02264:Or5aq7 APN 2 86,937,785 (GRCm39) utr 3 prime probably benign
IGL02540:Or5aq7 APN 2 86,938,386 (GRCm39) missense probably damaging 1.00
R2091:Or5aq7 UTSW 2 86,938,606 (GRCm39) missense probably damaging 1.00
R2928:Or5aq7 UTSW 2 86,938,107 (GRCm39) missense possibly damaging 0.88
R4107:Or5aq7 UTSW 2 86,937,999 (GRCm39) missense probably damaging 1.00
R4332:Or5aq7 UTSW 2 86,938,089 (GRCm39) missense possibly damaging 0.79
R4929:Or5aq7 UTSW 2 86,938,527 (GRCm39) missense possibly damaging 0.79
R5027:Or5aq7 UTSW 2 86,938,150 (GRCm39) missense probably benign 0.40
R6005:Or5aq7 UTSW 2 86,938,407 (GRCm39) missense probably benign 0.00
R6191:Or5aq7 UTSW 2 86,938,296 (GRCm39) missense probably damaging 1.00
R6358:Or5aq7 UTSW 2 86,938,778 (GRCm39) start gained probably benign
R6399:Or5aq7 UTSW 2 86,938,330 (GRCm39) missense probably benign 0.21
R6554:Or5aq7 UTSW 2 86,937,970 (GRCm39) missense probably benign 0.34
R7836:Or5aq7 UTSW 2 86,937,861 (GRCm39) missense probably damaging 1.00
R7881:Or5aq7 UTSW 2 86,938,401 (GRCm39) missense probably damaging 0.99
R8069:Or5aq7 UTSW 2 86,938,411 (GRCm39) missense probably damaging 1.00
R9322:Or5aq7 UTSW 2 86,938,561 (GRCm39) missense probably damaging 0.98
R9743:Or5aq7 UTSW 2 86,937,840 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16