Incidental Mutation 'R0622:Or52ad1'
ID 58730
Institutional Source Beutler Lab
Gene Symbol Or52ad1
Ensembl Gene ENSMUSG00000045540
Gene Name olfactory receptor family 52 subfamily AD member 1
Synonyms Olfr600, MOR39-1, GA_x6K02T2PBJ9-6056235-6055291
MMRRC Submission 038811-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R0622 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 102995189-102996133 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102996064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 24 (S24P)
Ref Sequence ENSEMBL: ENSMUSP00000148967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056222] [ENSMUST00000215042]
AlphaFold E9PUN7
Predicted Effect probably damaging
Transcript: ENSMUST00000056222
AA Change: S24P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000053887
Gene: ENSMUSG00000045540
AA Change: S24P

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 1.1e-97 PFAM
Pfam:7TM_GPCR_Srsx 37 226 1.2e-12 PFAM
Pfam:7tm_1 43 305 7.2e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215042
AA Change: S24P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.9%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1a T A 13: 30,565,664 (GRCm39) M243K probably benign Het
Ap1b1 A G 11: 4,987,707 (GRCm39) M744V probably damaging Het
Ccdc152 T C 15: 3,327,660 (GRCm39) N39S probably damaging Het
Cd163 G A 6: 124,294,311 (GRCm39) V490M probably damaging Het
Col6a5 G T 9: 105,803,051 (GRCm39) H1305N unknown Het
Cpb1 C A 3: 20,303,982 (GRCm39) D361Y probably damaging Het
Dchs1 T A 7: 105,412,656 (GRCm39) Y1248F probably damaging Het
Dhdds G C 4: 133,721,547 (GRCm39) F83L probably damaging Het
Dsg4 T A 18: 20,582,845 (GRCm39) V161E possibly damaging Het
Exosc4 A G 15: 76,211,736 (GRCm39) D15G probably damaging Het
F3 A T 3: 121,518,668 (GRCm39) D44V probably damaging Het
Fat2 A T 11: 55,173,954 (GRCm39) F2253Y probably damaging Het
Fbn1 T C 2: 125,220,944 (GRCm39) D650G possibly damaging Het
Gramd4 T A 15: 85,975,590 (GRCm39) F36I probably damaging Het
Grm7 G A 6: 111,335,457 (GRCm39) A623T probably damaging Het
Gys1 A T 7: 45,089,419 (GRCm39) T193S probably damaging Het
Hectd4 A G 5: 121,486,688 (GRCm39) T3228A possibly damaging Het
Itpk1 G T 12: 102,540,239 (GRCm39) D281E probably damaging Het
Kcnh7 A C 2: 62,667,633 (GRCm39) probably null Het
Klhl29 A G 12: 5,131,224 (GRCm39) L852P probably damaging Het
Lrch1 T C 14: 75,033,491 (GRCm39) Y509C probably benign Het
Lrp1b A G 2: 41,618,563 (GRCm39) probably null Het
Mcpt4 C A 14: 56,298,119 (GRCm39) R144L probably benign Het
Mia2 C T 12: 59,178,364 (GRCm39) R12W probably damaging Het
Mrps5 A G 2: 127,436,451 (GRCm39) K116R probably benign Het
Myrf G A 19: 10,200,816 (GRCm39) P286S probably damaging Het
Nanp A G 2: 150,881,164 (GRCm39) M28T probably benign Het
Neb T C 2: 52,102,963 (GRCm39) I4472V probably benign Het
Nfix A C 8: 85,453,111 (GRCm39) N314K probably damaging Het
Nlrc3 C T 16: 3,771,832 (GRCm39) R849Q probably benign Het
Nup210l G A 3: 90,075,047 (GRCm39) V786M probably damaging Het
Or2t44 T C 11: 58,677,167 (GRCm39) S36P probably damaging Het
Or6z5 T C 7: 6,477,598 (GRCm39) I163T possibly damaging Het
Or8c20 A G 9: 38,260,667 (GRCm39) N96S possibly damaging Het
Pdia4 A T 6: 47,783,452 (GRCm39) F197Y probably damaging Het
Phldb1 T C 9: 44,627,149 (GRCm39) D432G probably damaging Het
Pik3ca A G 3: 32,490,701 (GRCm39) E116G probably damaging Het
Polq T C 16: 36,881,355 (GRCm39) V1173A probably benign Het
Pou2f3 C T 9: 43,036,414 (GRCm39) R423H probably damaging Het
Pramel29 T C 4: 143,939,583 (GRCm39) probably benign Het
Prkag2 T C 5: 25,074,247 (GRCm39) N246S probably damaging Het
Proser1 A G 3: 53,385,281 (GRCm39) S388G probably benign Het
Ralgps1 G A 2: 33,064,459 (GRCm39) R238* probably null Het
Rfx2 T C 17: 57,084,071 (GRCm39) D657G probably damaging Het
Ryr3 A G 2: 112,492,900 (GRCm39) F3724S probably damaging Het
Sh2d5 T C 4: 137,986,539 (GRCm39) S421P probably damaging Het
Slc34a1 C A 13: 23,996,594 (GRCm39) T33K probably damaging Het
St8sia5 A G 18: 77,333,809 (GRCm39) T156A probably damaging Het
Stk32c T C 7: 138,768,026 (GRCm39) D85G probably benign Het
Tnks A G 8: 35,407,976 (GRCm39) S251P probably damaging Het
Tnxb T A 17: 34,937,703 (GRCm39) L3864Q probably damaging Het
Trim9 A G 12: 70,393,378 (GRCm39) Y189H probably damaging Het
Vmn1r77 T G 7: 11,775,315 (GRCm39) F30L probably benign Het
Wasf3 A G 5: 146,403,602 (GRCm39) probably null Het
Wdr90 C T 17: 26,074,632 (GRCm39) C603Y probably damaging Het
Zdhhc25 T C 15: 88,485,310 (GRCm39) L215P probably damaging Het
Zeb1 C T 18: 5,759,123 (GRCm39) Q140* probably null Het
Zfp677 C T 17: 21,617,962 (GRCm39) L340F probably benign Het
Other mutations in Or52ad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01525:Or52ad1 APN 7 102,995,386 (GRCm39) missense probably benign 0.15
IGL02239:Or52ad1 APN 7 102,995,805 (GRCm39) missense probably damaging 1.00
IGL02285:Or52ad1 APN 7 102,995,245 (GRCm39) nonsense probably null
IGL02547:Or52ad1 APN 7 102,995,451 (GRCm39) missense probably damaging 1.00
IGL03149:Or52ad1 APN 7 102,996,056 (GRCm39) missense probably benign 0.00
R0193:Or52ad1 UTSW 7 102,995,411 (GRCm39) missense possibly damaging 0.74
R0304:Or52ad1 UTSW 7 102,995,918 (GRCm39) missense probably damaging 1.00
R0454:Or52ad1 UTSW 7 102,996,085 (GRCm39) missense probably benign 0.02
R1988:Or52ad1 UTSW 7 102,995,316 (GRCm39) missense possibly damaging 0.88
R1989:Or52ad1 UTSW 7 102,995,316 (GRCm39) missense possibly damaging 0.88
R2937:Or52ad1 UTSW 7 102,995,272 (GRCm39) missense probably benign 0.18
R4426:Or52ad1 UTSW 7 102,995,290 (GRCm39) missense probably damaging 1.00
R5362:Or52ad1 UTSW 7 102,995,454 (GRCm39) missense probably damaging 1.00
R5723:Or52ad1 UTSW 7 102,995,826 (GRCm39) missense possibly damaging 0.85
R6793:Or52ad1 UTSW 7 102,995,473 (GRCm39) missense probably benign 0.00
R6863:Or52ad1 UTSW 7 102,996,123 (GRCm39) missense possibly damaging 0.86
R6935:Or52ad1 UTSW 7 102,996,002 (GRCm39) missense probably damaging 1.00
R6983:Or52ad1 UTSW 7 102,996,022 (GRCm39) missense probably benign 0.00
R7262:Or52ad1 UTSW 7 102,995,764 (GRCm39) missense probably damaging 1.00
R7313:Or52ad1 UTSW 7 102,995,538 (GRCm39) missense probably benign 0.06
R7774:Or52ad1 UTSW 7 102,995,737 (GRCm39) missense possibly damaging 0.85
R9246:Or52ad1 UTSW 7 102,995,908 (GRCm39) missense probably damaging 0.96
R9542:Or52ad1 UTSW 7 102,995,569 (GRCm39) missense probably benign 0.00
X0018:Or52ad1 UTSW 7 102,996,106 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGGCAGGCTTCAAGGCTGATTTC -3'
(R):5'- AGTCGTCCAGAATTTTCTGCATCCC -3'

Sequencing Primer
(F):5'- ATTCCTAGCATTCGGGGTACAG -3'
(R):5'- CCACTCCAAGGAGTTCAAGTATTTAC -3'
Posted On 2013-07-11