Incidental Mutation 'R2928:Or5aq7'
ID 254923
Institutional Source Beutler Lab
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 # R2928 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 86937791-86938729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86938107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 208 (I208N)
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: I208N

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097448
Gene: ENSMUSG00000075160
AA Change: I208N

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: I208N

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215828
AA Change: I208N

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216088
AA Change: I208N

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
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: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 T C 2: 128,522,057 (GRCm39) K167R probably damaging Het
Brpf1 T C 6: 113,299,007 (GRCm39) V1127A possibly damaging Het
Cept1 G A 3: 106,438,468 (GRCm39) T205I probably benign Het
Cpd T C 11: 76,737,200 (GRCm39) D198G probably benign Het
Csad A G 15: 102,086,139 (GRCm39) F464S probably damaging Het
Fcrl1 A G 3: 87,298,564 (GRCm39) N353S probably benign Het
Glb1l2 A T 9: 26,679,722 (GRCm39) M410K probably benign Het
Gskip T A 12: 105,667,002 (GRCm39) F127I probably damaging Het
Iqgap2 T C 13: 95,818,744 (GRCm39) T671A probably benign Het
Tmem260 T C 14: 48,724,207 (GRCm39) F352L probably damaging Het
Vmn2r22 T C 6: 123,614,402 (GRCm39) N396S probably damaging 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
IGL02572:Or5aq7 APN 2 86,938,710 (GRCm39) missense possibly damaging 0.63
R2091:Or5aq7 UTSW 2 86,938,606 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- GAGAGCTTTTCCTGTTCCATGG -3'
(R):5'- TCTGCACTCAAATGGTACTTGC -3'

Sequencing Primer
(F):5'- CCTGTTCCATGGAGTATTGAGAAC -3'
(R):5'- CAAATGGTACTTGCAAGTTACTTGGG -3'
Posted On 2014-12-29