Incidental Mutation 'R0482:Or52n5'
ID 42036
Institutional Source Beutler Lab
Gene Symbol Or52n5
Ensembl Gene ENSMUSG00000073916
Gene Name olfactory receptor family 52 subfamily N member 5
Synonyms GA_x6K02T2PBJ9-7567376-7568329, Olfr669, MOR34-6
MMRRC Submission 038682-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R0482 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 104587735-104588688 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104588021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 96 (F96Y)
Ref Sequence ENSEMBL: ENSMUSP00000150928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098164] [ENSMUST00000210138] [ENSMUST00000214260]
AlphaFold Q8VGU9
Predicted Effect possibly damaging
Transcript: ENSMUST00000098164
AA Change: F96Y

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000095767
Gene: ENSMUSG00000073916
AA Change: F96Y

DomainStartEndE-ValueType
Pfam:7tm_4 33 313 8.7e-103 PFAM
Pfam:7TM_GPCR_Srsx 37 209 1.9e-10 PFAM
Pfam:7tm_1 43 295 2.7e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000210138
AA Change: F96Y

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211559
Predicted Effect possibly damaging
Transcript: ENSMUST00000214260
AA Change: F96Y

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
Meta Mutation Damage Score 0.2076 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.8%
  • 20x: 93.4%
Validation Efficiency 95% (94/99)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,207,255 (GRCm39) probably null Het
Abca13 G A 11: 9,278,207 (GRCm39) G3129D possibly damaging Het
Acnat2 T C 4: 49,383,534 (GRCm39) I6M probably benign Het
Adcy4 T A 14: 56,012,029 (GRCm39) probably null Het
Agrn A G 4: 156,258,012 (GRCm39) S1117P probably damaging Het
Anks1b A G 10: 90,195,057 (GRCm39) N545S probably benign Het
Antxr1 C T 6: 87,246,220 (GRCm39) probably null Het
Arhgef17 T C 7: 100,529,828 (GRCm39) K476E probably damaging Het
Bptf T C 11: 106,972,088 (GRCm39) S927G probably benign Het
Cacna1s C T 1: 136,041,132 (GRCm39) T1286I probably benign Het
Ccdc174 T A 6: 91,872,247 (GRCm39) M292K probably benign Het
Cdk5rap2 G A 4: 70,328,506 (GRCm39) probably benign Het
Celsr3 T A 9: 108,706,272 (GRCm39) Y918* probably null Het
Cep250 T C 2: 155,806,894 (GRCm39) probably benign Het
Ces2h A G 8: 105,746,903 (GRCm39) D513G possibly damaging Het
Clec2l A G 6: 38,640,327 (GRCm39) T53A probably benign Het
Cntnap2 C T 6: 45,692,750 (GRCm39) S77L probably benign Het
Cped1 A T 6: 22,016,957 (GRCm39) H102L probably benign Het
Crim1 T A 17: 78,680,008 (GRCm39) D916E probably benign Het
Csmd1 T A 8: 16,283,115 (GRCm39) I614F probably damaging Het
Csnk1g1 G A 9: 65,917,751 (GRCm39) E37K probably damaging Het
Ctnnbl1 T A 2: 157,713,110 (GRCm39) probably null Het
Cuzd1 A T 7: 130,911,601 (GRCm39) probably benign Het
Cyp4f16 T A 17: 32,769,525 (GRCm39) V433D probably damaging Het
Ddi1 A G 9: 6,266,144 (GRCm39) L75P probably damaging Het
Ddias G A 7: 92,508,736 (GRCm39) A393V probably benign Het
Dgka A T 10: 128,569,990 (GRCm39) Y123* probably null Het
Dlgap1 T C 17: 70,823,185 (GRCm39) C57R probably benign Het
Dysf T A 6: 84,129,387 (GRCm39) V1458D probably benign Het
Eif2ak4 T A 2: 118,292,828 (GRCm39) Y1230N probably damaging Het
Fbxl7 A T 15: 26,543,632 (GRCm39) S338R probably benign Het
Fgf23 A T 6: 127,050,122 (GRCm39) T44S probably damaging Het
Fhip1b G A 7: 105,033,419 (GRCm39) P599L possibly damaging Het
Folh1 A T 7: 86,395,309 (GRCm39) probably benign Het
Gpsm2 A T 3: 108,609,710 (GRCm39) probably benign Het
H2bc13 A G 13: 21,900,295 (GRCm39) probably benign Het
Hdac2 T A 10: 36,865,130 (GRCm39) probably benign Het
Il31ra G T 13: 112,664,015 (GRCm39) T446N possibly damaging Het
Irf5 T A 6: 29,535,369 (GRCm39) L199H probably benign Het
Kif18a T A 2: 109,118,188 (GRCm39) M1K probably null Het
Kif4-ps A C 12: 101,114,921 (GRCm39) I1017L probably benign Het
Klhl2 C T 8: 65,211,164 (GRCm39) V295M probably benign Het
Krt75 A T 15: 101,478,746 (GRCm39) M296K probably benign Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lgr4 T C 2: 109,838,437 (GRCm39) S439P probably damaging Het
Lhfpl2 C A 13: 94,311,118 (GRCm39) N129K probably damaging Het
Lnx2 A G 5: 146,955,771 (GRCm39) V675A probably damaging Het
Med13 T C 11: 86,175,977 (GRCm39) T1673A probably benign Het
Mif A G 10: 75,695,974 (GRCm39) V10A possibly damaging Het
Mki67 A T 7: 135,301,158 (GRCm39) I1292N possibly damaging Het
Mylip C A 13: 45,558,059 (GRCm39) N89K probably benign Het
Myo19 G T 11: 84,800,245 (GRCm39) D877Y probably benign Het
Nckap5 A G 1: 125,954,102 (GRCm39) S753P possibly damaging Het
Nlrc3 T C 16: 3,783,056 (GRCm39) T118A possibly damaging Het
Nptx2 T C 5: 144,490,269 (GRCm39) Y233H probably damaging Het
Nsl1 T A 1: 190,795,237 (GRCm39) M1K probably null Het
Ntsr1 T A 2: 180,142,849 (GRCm39) S213R possibly damaging Het
Or4c120 A T 2: 89,000,975 (GRCm39) F194I probably benign Het
Or4c58 A G 2: 89,674,513 (GRCm39) V268A probably benign Het
Pde4d G A 13: 110,073,244 (GRCm39) V347I probably benign Het
Pik3r4 T A 9: 105,546,244 (GRCm39) S865T probably benign Het
Ppp2r2d A G 7: 138,472,160 (GRCm39) R136G probably benign Het
Proser2 A C 2: 6,118,721 (GRCm39) S41A probably damaging Het
Proz A T 8: 13,123,460 (GRCm39) K244* probably null Het
Prpf38b A T 3: 108,812,586 (GRCm39) L209H probably damaging Het
R3hdm1 C A 1: 128,112,254 (GRCm39) A390E probably benign Het
Rb1cc1 A C 1: 6,310,547 (GRCm39) D315A probably damaging Het
Rnf141 G A 7: 110,436,345 (GRCm39) R28* probably null Het
Rps6kc1 A T 1: 190,531,627 (GRCm39) S792T probably benign Het
Rxrg A G 1: 167,458,606 (GRCm39) D233G possibly damaging Het
Sh2d7 A G 9: 54,448,321 (GRCm39) N114S probably benign Het
Slc25a38 T C 9: 119,949,899 (GRCm39) V205A probably benign Het
Slc4a10 T C 2: 62,127,361 (GRCm39) probably benign Het
Spred1 T A 2: 116,983,459 (GRCm39) probably null Het
Stt3b A G 9: 115,077,635 (GRCm39) S706P probably benign Het
Tcerg1 C A 18: 42,697,305 (GRCm39) probably benign Het
Tent5a T C 9: 85,207,108 (GRCm39) Y230C probably damaging Het
Thsd4 A T 9: 59,910,261 (GRCm39) I109N probably damaging Het
Ticrr C A 7: 79,344,236 (GRCm39) P1367Q probably damaging Het
Trpv1 A G 11: 73,130,255 (GRCm39) D146G probably damaging Het
Tubd1 T G 11: 86,448,602 (GRCm39) V305G possibly damaging Het
Tubgcp4 T C 2: 121,005,855 (GRCm39) L81P probably benign Het
Ubxn2b T A 4: 6,196,404 (GRCm39) probably null Het
Usp36 A T 11: 118,156,020 (GRCm39) S586T probably benign Het
Vcan T A 13: 89,826,264 (GRCm39) D2220V probably damaging Het
Vmn1r173 T A 7: 23,402,216 (GRCm39) N150K probably damaging Het
Vmn1r70 G A 7: 10,368,204 (GRCm39) A231T probably damaging Het
Vmn2r97 A G 17: 19,167,930 (GRCm39) D728G probably damaging Het
Zbtb40 T C 4: 136,710,539 (GRCm39) E1200G probably damaging Het
Zfp365 A T 10: 67,733,436 (GRCm39) V252D probably damaging Het
Other mutations in Or52n5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01527:Or52n5 APN 7 104,588,198 (GRCm39) missense possibly damaging 0.88
IGL01677:Or52n5 APN 7 104,587,852 (GRCm39) missense probably benign 0.01
IGL01900:Or52n5 APN 7 104,588,369 (GRCm39) missense probably damaging 1.00
IGL02270:Or52n5 APN 7 104,588,576 (GRCm39) missense possibly damaging 0.95
R0970:Or52n5 UTSW 7 104,588,284 (GRCm39) missense probably benign 0.05
R4260:Or52n5 UTSW 7 104,587,803 (GRCm39) missense probably damaging 0.99
R4845:Or52n5 UTSW 7 104,588,570 (GRCm39) missense possibly damaging 0.95
R4947:Or52n5 UTSW 7 104,587,949 (GRCm39) missense possibly damaging 0.95
R5438:Or52n5 UTSW 7 104,588,344 (GRCm39) missense probably benign 0.03
R5735:Or52n5 UTSW 7 104,587,966 (GRCm39) missense probably benign 0.01
R5943:Or52n5 UTSW 7 104,587,850 (GRCm39) missense possibly damaging 0.78
R6435:Or52n5 UTSW 7 104,588,041 (GRCm39) missense probably damaging 0.99
R6942:Or52n5 UTSW 7 104,588,104 (GRCm39) missense possibly damaging 0.56
R7061:Or52n5 UTSW 7 104,587,883 (GRCm39) missense probably damaging 1.00
R7122:Or52n5 UTSW 7 104,588,405 (GRCm39) missense probably damaging 0.99
R7378:Or52n5 UTSW 7 104,588,638 (GRCm39) missense probably benign 0.31
R7898:Or52n5 UTSW 7 104,588,573 (GRCm39) missense probably damaging 1.00
R8260:Or52n5 UTSW 7 104,587,879 (GRCm39) missense probably damaging 1.00
R8478:Or52n5 UTSW 7 104,588,477 (GRCm39) missense probably benign 0.00
R9289:Or52n5 UTSW 7 104,587,816 (GRCm39) missense probably damaging 1.00
R9356:Or52n5 UTSW 7 104,588,373 (GRCm39) missense probably benign 0.43
R9558:Or52n5 UTSW 7 104,588,615 (GRCm39) missense possibly damaging 0.91
R9607:Or52n5 UTSW 7 104,588,207 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TCATCTCCCTAGTAGGCAACCTTGG -3'
(R):5'- TTGCTTCGGCAGAAGGGCAAAC -3'

Sequencing Primer
(F):5'- AGTAGGCAACCTTGGCCTTG -3'
(R):5'- TAACACACCTCTCAAGAAGGTGG -3'
Posted On 2013-05-23