Incidental Mutation 'IGL02502:Or52n4b'
ID 296110
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52n4b
Ensembl Gene ENSMUSG00000060759
Gene Name olfactory receptor family 52 subfamily N member 4B
Synonyms MOR34-9, MOR34-12, GA_x6K02T2PBJ9-10874315-10875286, MOR34-8P, Olfr503, Olfr1548, MOR34-9
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL02502
Quality Score
Status
Chromosome 7
Chromosomal Location 108143734-108144705 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108143846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 36 (M36K)
Ref Sequence ENSEMBL: ENSMUSP00000147778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078162] [ENSMUST00000211693]
AlphaFold Q7TRU8
Predicted Effect probably damaging
Transcript: ENSMUST00000078162
AA Change: M38K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000077296
Gene: ENSMUSG00000060759
AA Change: M38K

DomainStartEndE-ValueType
Pfam:7tm_4 35 315 3e-103 PFAM
Pfam:7TM_GPCR_Srsx 39 268 2.4e-7 PFAM
Pfam:7tm_1 45 297 9.2e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000211693
AA Change: M36K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A G 2: 127,917,804 (GRCm39) N216S probably damaging Het
Akap12 A G 10: 4,303,163 (GRCm39) D96G probably damaging Het
Akna A G 4: 63,286,440 (GRCm39) V1353A probably benign Het
Ambra1 A G 2: 91,730,877 (GRCm39) D914G probably damaging Het
Ap1s3 A G 1: 79,601,439 (GRCm39) V84A possibly damaging Het
Arhgef6 T C X: 56,325,623 (GRCm39) E282G probably damaging Het
C2cd2 G T 16: 97,677,590 (GRCm39) S378Y possibly damaging Het
Cd101 C A 3: 100,919,141 (GRCm39) A654S probably damaging Het
Cep295 A C 9: 15,262,209 (GRCm39) probably benign Het
Csn1s1 A G 5: 87,828,784 (GRCm39) I283V probably benign Het
Cst3 A G 2: 148,717,065 (GRCm39) probably benign Het
Cyp2b9 T C 7: 25,887,239 (GRCm39) probably null Het
Dffb A G 4: 154,050,073 (GRCm39) probably benign Het
Dnah10 A G 5: 124,898,351 (GRCm39) Y3711C probably damaging Het
Eif4g2 T C 7: 110,680,748 (GRCm39) S3G probably damaging Het
Erbb3 C T 10: 128,406,153 (GRCm39) R1088H probably benign Het
Evpl T C 11: 116,113,544 (GRCm39) D1382G probably damaging Het
Fam168a A G 7: 100,473,417 (GRCm39) D102G probably damaging Het
Fbxo7 A G 10: 85,869,161 (GRCm39) Y284C probably damaging Het
G6pd2 T C 5: 61,966,971 (GRCm39) Y249H probably damaging Het
Gm1123 A T 9: 98,891,443 (GRCm39) Y335* probably null Het
Gm5624 C T 14: 44,797,296 (GRCm39) probably null Het
Hectd1 A T 12: 51,844,635 (GRCm39) M536K possibly damaging Het
Ikbkg T A X: 73,487,433 (GRCm39) V334E probably benign Het
Ipo7 T C 7: 109,650,257 (GRCm39) L769P probably damaging Het
Jmjd1c A T 10: 67,061,640 (GRCm39) K1331I probably benign Het
Krt32 T C 11: 99,978,749 (GRCm39) K102E probably damaging Het
Lrrc34 A T 3: 30,699,394 (GRCm39) N20K probably benign Het
Lrrc47 A G 4: 154,100,471 (GRCm39) E349G probably benign Het
Mdn1 A G 4: 32,670,579 (GRCm39) I415V possibly damaging Het
Myh10 A G 11: 68,705,198 (GRCm39) probably null Het
Nbeal2 A G 9: 110,462,836 (GRCm39) S1376P probably damaging Het
Nfx1 T C 4: 40,976,345 (GRCm39) probably benign Het
Nherf4 G A 9: 44,160,948 (GRCm39) A206V probably benign Het
Notch3 A T 17: 32,377,252 (GRCm39) C246* probably null Het
Nr3c2 A G 8: 77,969,143 (GRCm39) Y976C probably damaging Het
Or51b17 A G 7: 103,542,696 (GRCm39) V82A probably damaging Het
Or5b122 A G 19: 13,563,112 (GRCm39) Y105C probably damaging Het
P2rx7 C T 5: 122,819,050 (GRCm39) R491C possibly damaging Het
Phex T A X: 155,966,823 (GRCm39) Y625F possibly damaging Het
Pkhd1 T C 1: 20,462,389 (GRCm39) D2055G probably damaging Het
Pmm2 T C 16: 8,463,227 (GRCm39) probably benign Het
Prdm15 T C 16: 97,640,539 (GRCm39) D16G probably damaging Het
Prune2 T A 19: 17,101,245 (GRCm39) C2250S probably benign Het
Rasgef1a T A 6: 118,057,443 (GRCm39) F48Y probably benign Het
Rhoq T C 17: 87,271,077 (GRCm39) V15A probably damaging Het
Rnf216 G A 5: 143,054,622 (GRCm39) A585V probably damaging Het
Septin9 T A 11: 117,181,488 (GRCm39) I96N probably damaging Het
Shprh T A 10: 11,070,101 (GRCm39) D1492E possibly damaging Het
Slc22a26 A T 19: 7,768,125 (GRCm39) probably null Het
Tek T G 4: 94,741,818 (GRCm39) probably null Het
Tenm3 T C 8: 48,741,051 (GRCm39) E782G probably damaging Het
Trmt5 A G 12: 73,328,001 (GRCm39) C401R probably benign Het
Tspear T G 10: 77,688,792 (GRCm39) probably benign Het
Ubr5 G A 15: 38,030,933 (GRCm39) T414I probably benign Het
Vcl A T 14: 21,069,453 (GRCm39) T710S probably damaging Het
Vmn2r25 A T 6: 123,816,392 (GRCm39) D396E probably damaging Het
Wtip A G 7: 33,818,094 (GRCm39) probably null Het
Zap70 A G 1: 36,817,887 (GRCm39) probably benign Het
Other mutations in Or52n4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Or52n4b APN 7 108,143,933 (GRCm39) nonsense probably null
IGL02031:Or52n4b APN 7 108,144,137 (GRCm39) missense probably benign 0.03
IGL02426:Or52n4b APN 7 108,144,187 (GRCm39) missense probably benign 0.01
IGL03208:Or52n4b APN 7 108,144,326 (GRCm39) missense probably benign 0.02
R0507:Or52n4b UTSW 7 108,144,292 (GRCm39) missense probably damaging 0.98
R0967:Or52n4b UTSW 7 108,143,996 (GRCm39) missense probably damaging 1.00
R1181:Or52n4b UTSW 7 108,144,509 (GRCm39) missense probably benign 0.00
R1501:Or52n4b UTSW 7 108,143,782 (GRCm39) missense probably benign
R1596:Or52n4b UTSW 7 108,144,290 (GRCm39) missense possibly damaging 0.90
R1657:Or52n4b UTSW 7 108,144,584 (GRCm39) missense possibly damaging 0.50
R1708:Or52n4b UTSW 7 108,143,781 (GRCm39) missense probably benign 0.04
R2215:Or52n4b UTSW 7 108,144,095 (GRCm39) missense probably damaging 1.00
R4131:Or52n4b UTSW 7 108,143,744 (GRCm39) nonsense probably null
R4772:Or52n4b UTSW 7 108,144,092 (GRCm39) missense probably damaging 0.98
R5009:Or52n4b UTSW 7 108,144,055 (GRCm39) missense probably benign 0.01
R5297:Or52n4b UTSW 7 108,144,611 (GRCm39) missense probably damaging 1.00
R5788:Or52n4b UTSW 7 108,144,551 (GRCm39) missense probably damaging 0.97
R5944:Or52n4b UTSW 7 108,144,484 (GRCm39) missense possibly damaging 0.90
R6522:Or52n4b UTSW 7 108,144,202 (GRCm39) missense probably benign 0.09
R7045:Or52n4b UTSW 7 108,144,452 (GRCm39) missense probably damaging 1.00
R7339:Or52n4b UTSW 7 108,144,107 (GRCm39) missense probably damaging 1.00
R7558:Or52n4b UTSW 7 108,143,928 (GRCm39) nonsense probably null
R7585:Or52n4b UTSW 7 108,144,598 (GRCm39) missense probably damaging 1.00
R9209:Or52n4b UTSW 7 108,144,664 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16