Incidental Mutation 'R5438:Or52n5'
ID 428475
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 043003-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R5438 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 104587735-104588688 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 104588344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 204 (V204I)
Ref Sequence ENSEMBL: ENSMUSP00000150928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098164] [ENSMUST00000210138] [ENSMUST00000214260]
AlphaFold Q8VGU9
Predicted Effect probably benign
Transcript: ENSMUST00000098164
AA Change: V204I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000095767
Gene: ENSMUSG00000073916
AA Change: V204I

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 probably benign
Transcript: ENSMUST00000210138
AA Change: V204I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211559
Predicted Effect probably benign
Transcript: ENSMUST00000214260
AA Change: V204I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 C A 7: 66,538,165 (GRCm39) Q244K probably benign Het
Arpc2 T A 1: 74,275,995 (GRCm39) L4Q probably null Het
Atp7b C T 8: 22,504,570 (GRCm39) V581I probably benign Het
Bpifb9b T A 2: 154,151,288 (GRCm39) V3D possibly damaging Het
Capn13 A G 17: 73,633,479 (GRCm39) F525L probably benign Het
Cimip4 T C 15: 78,263,040 (GRCm39) T180A possibly damaging Het
Cmya5 G T 13: 93,231,707 (GRCm39) T1127K possibly damaging Het
Col6a4 A T 9: 105,890,895 (GRCm39) L1800I possibly damaging Het
Cpd T A 11: 76,682,792 (GRCm39) I1076F possibly damaging Het
Elp4 A G 2: 105,734,748 (GRCm39) F29S probably damaging Het
Exosc10 T A 4: 148,650,799 (GRCm39) Y448* probably null Het
Fam219a A G 4: 41,520,302 (GRCm39) S149P probably damaging Het
Gdap2 A T 3: 100,085,629 (GRCm39) I184F probably damaging Het
Golgb1 A G 16: 36,720,870 (GRCm39) N409D probably benign Het
Grin2b C T 6: 135,713,304 (GRCm39) G859D probably damaging Het
Hvcn1 A G 5: 122,376,527 (GRCm39) K153R probably damaging Het
Ighv3-1 T A 12: 113,928,089 (GRCm39) H90L probably benign Het
Kcnn3 T A 3: 89,428,605 (GRCm39) L277Q probably damaging Het
Lama1 T A 17: 68,107,769 (GRCm39) S2128T possibly damaging Het
Ltbp1 T A 17: 75,598,321 (GRCm39) S919T probably damaging Het
Mgam A G 6: 40,661,455 (GRCm39) N1163S probably damaging Het
Mypn G T 10: 62,971,618 (GRCm39) C807* probably null Het
Or5m8 T C 2: 85,822,925 (GRCm39) F255L probably damaging Het
Otud7a A G 7: 63,407,207 (GRCm39) N62S unknown Het
Pcdh18 A T 3: 49,710,465 (GRCm39) Y283* probably null Het
Ptger2 A T 14: 45,227,101 (GRCm39) H227L possibly damaging Het
Slc24a5 A G 2: 124,910,785 (GRCm39) Y72C probably damaging Het
Slc35f2 T A 9: 53,708,302 (GRCm39) D98E probably benign Het
Smad1 A T 8: 80,082,949 (GRCm39) F184I probably benign Het
Sncg C T 14: 34,095,637 (GRCm39) V52I probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Zc3h11a C T 1: 133,568,385 (GRCm39) R88H probably damaging Het
Zfp141 A G 7: 42,138,894 (GRCm39) V46A probably damaging Het
Zfp472 T A 17: 33,197,193 (GRCm39) C423S probably damaging Het
Zfp729a A T 13: 67,767,705 (GRCm39) H841Q possibly 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
R0482:Or52n5 UTSW 7 104,588,021 (GRCm39) missense possibly damaging 0.56
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
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'- TGCTACCCACTACGCTATGC -3'
(R):5'- GGTGTGACCTCCAAAACGATG -3'

Sequencing Primer
(F):5'- CTGTCATTGCCAAAGCTGG -3'
(R):5'- TGTGACCTCCAAAACGATGAGTAAAG -3'
Posted On 2016-09-01