Incidental Mutation 'R0128:Or52p1'
ID 21512
Institutional Source Beutler Lab
Gene Symbol Or52p1
Ensembl Gene ENSMUSG00000073924
Gene Name olfactory receptor family 52 subfamily P member 1
Synonyms MOR27-1, Olfr656, GA_x6K02T2PBJ9-7245486-7246451
MMRRC Submission 038413-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R0128 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 7
Chromosomal Location 104266864-104267853 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104267788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 301 (I301F)
Ref Sequence ENSEMBL: ENSMUSP00000149625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098172] [ENSMUST00000215575]
AlphaFold Q8VGX9
Predicted Effect probably damaging
Transcript: ENSMUST00000098172
AA Change: I309F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095774
Gene: ENSMUSG00000073924
AA Change: I309F

DomainStartEndE-ValueType
Pfam:7tm_4 41 319 5.2e-105 PFAM
Pfam:7TM_GPCR_Srsx 42 316 1.1e-8 PFAM
Pfam:7tm_1 51 302 4.9e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210687
AA Change: I301F
Predicted Effect probably damaging
Transcript: ENSMUST00000215575
AA Change: I301F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.6%
  • 10x: 93.0%
  • 20x: 79.3%
Validation Efficiency 99% (84/85)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,552,602 (GRCm39) probably benign Het
Abcd4 T G 12: 84,659,126 (GRCm39) Q210P possibly damaging Het
Ablim2 G A 5: 35,966,520 (GRCm39) probably benign Het
Acte1 G T 7: 143,445,492 (GRCm39) G178C probably damaging Het
Actl6b A G 5: 137,553,327 (GRCm39) N113S probably benign Het
Actn3 A T 19: 4,921,643 (GRCm39) V179E probably damaging Het
Aff4 C A 11: 53,306,293 (GRCm39) T1145N probably damaging Het
Ankrd42 G A 7: 92,241,067 (GRCm39) Q431* probably null Het
Anxa9 A G 3: 95,209,733 (GRCm39) S129P probably benign Het
Arfgef2 T G 2: 166,677,639 (GRCm39) I88S probably damaging Het
Asap3 C A 4: 135,961,915 (GRCm39) N285K probably damaging Het
Atp6v0a2 A G 5: 124,790,248 (GRCm39) N477S probably damaging Het
Atp7b C T 8: 22,518,188 (GRCm39) E205K possibly damaging Het
Atp8b5 T A 4: 43,369,715 (GRCm39) probably null Het
C87436 G A 6: 86,446,809 (GRCm39) G533D probably damaging Het
Ccdc138 T A 10: 58,364,182 (GRCm39) I314N probably damaging Het
Ccs A G 19: 4,875,654 (GRCm39) F237S probably damaging Het
Ccz1 T G 5: 143,946,112 (GRCm39) probably benign Het
Cdcp2 C T 4: 106,963,904 (GRCm39) probably benign Het
Chd1 A G 17: 17,613,829 (GRCm39) N531S probably damaging Het
Clptm1 A T 7: 19,368,932 (GRCm39) F476I probably damaging Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Cped1 T A 6: 22,121,038 (GRCm39) Y373N probably benign Het
Cr2 A T 1: 194,848,539 (GRCm39) V328D probably damaging Het
D630045J12Rik A T 6: 38,126,706 (GRCm39) probably benign Het
Dcdc2a A T 13: 25,371,655 (GRCm39) probably benign Het
Dlg1 G T 16: 31,676,883 (GRCm39) probably null Het
Epb41l5 A C 1: 119,477,632 (GRCm39) V705G possibly damaging Het
Ergic3 C A 2: 155,853,060 (GRCm39) R43S possibly damaging Het
Flnb T C 14: 7,901,951 (GRCm38) V938A probably damaging Het
Frmd4a T C 2: 4,608,903 (GRCm39) Y928H probably damaging Het
Fyn C T 10: 39,387,978 (GRCm39) T78M probably benign Het
Gdap2 A G 3: 100,109,311 (GRCm39) T443A probably damaging Het
Ghrl A T 6: 113,694,129 (GRCm39) probably benign Het
Gm4787 T A 12: 81,424,521 (GRCm39) K546* probably null Het
Gm6576 C G 15: 27,026,086 (GRCm39) noncoding transcript Het
Got1 C T 19: 43,512,816 (GRCm39) D27N probably benign Het
Gucy2c C T 6: 136,681,247 (GRCm39) V946I probably damaging Het
Hectd4 T C 5: 121,487,306 (GRCm39) Y3434H possibly damaging Het
Hp1bp3 C T 4: 137,964,520 (GRCm39) S348F probably damaging Het
Itpr1 A G 6: 108,448,170 (GRCm39) probably benign Het
Kctd1 G A 18: 15,107,237 (GRCm39) P743S probably benign Het
Klhl23 T C 2: 69,664,310 (GRCm39) V553A probably damaging Het
Krt24 T C 11: 99,171,093 (GRCm39) D495G probably damaging Het
L3hypdh C T 12: 72,123,917 (GRCm39) probably null Het
Lipo3 C T 19: 33,534,506 (GRCm39) probably null Het
Lman2l G T 1: 36,463,945 (GRCm39) S171* probably null Het
Lrp1b T C 2: 41,401,520 (GRCm39) D378G probably damaging Het
Map3k4 T A 17: 12,466,950 (GRCm39) D1104V probably damaging Het
Mpeg1 T C 19: 12,438,587 (GRCm39) V15A probably benign Het
Narf C T 11: 121,141,662 (GRCm39) R356C probably damaging Het
Nebl T A 2: 17,397,834 (GRCm39) Q487H possibly damaging Het
Olfm5 G A 7: 103,810,133 (GRCm39) A76V probably benign Het
Or1j11 T A 2: 36,312,299 (GRCm39) D296E probably benign Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5ak22 T A 2: 85,230,305 (GRCm39) S191C probably damaging Het
Or8k40 T C 2: 86,584,231 (GRCm39) M284V probably benign Het
Palb2 A T 7: 121,727,389 (GRCm39) Y160* probably null Het
Pasd1 T C X: 70,983,161 (GRCm39) C378R possibly damaging Het
Paxip1 C T 5: 27,949,183 (GRCm39) probably benign Het
Pclo A G 5: 14,729,811 (GRCm39) probably benign Het
Pdcd11 G A 19: 47,108,301 (GRCm39) V1223I probably benign Het
Pde6c T C 19: 38,157,813 (GRCm39) probably benign Het
Prr12 A G 7: 44,699,463 (GRCm39) probably benign Het
Prss39 T A 1: 34,541,281 (GRCm39) probably benign Het
Samd5 A G 10: 9,550,683 (GRCm39) W9R probably damaging Het
Sfr1 A G 19: 47,723,457 (GRCm39) *320W probably null Het
Sft2d1rt A G 11: 45,943,120 (GRCm39) M1T probably null Het
Sh3bp4 A G 1: 89,073,036 (GRCm39) N628S possibly damaging Het
Sim1 A T 10: 50,784,057 (GRCm39) I104F probably damaging Het
Slc1a3 T C 15: 8,665,693 (GRCm39) M519V probably benign Het
Smcp T A 3: 92,491,827 (GRCm39) T7S unknown Het
Sp4 A G 12: 118,264,551 (GRCm39) probably benign Het
Spag9 T A 11: 93,984,365 (GRCm39) I327N probably damaging Het
Thbs4 G T 13: 92,890,918 (GRCm39) H850N probably benign Het
Ubap2l A T 3: 89,928,680 (GRCm39) S478T possibly damaging Het
Unc79 A G 12: 103,054,693 (GRCm39) probably benign Het
Vmn2r85 A G 10: 130,255,054 (GRCm39) probably benign Het
Wrap73 A G 4: 154,226,957 (GRCm39) D19G possibly damaging Het
Other mutations in Or52p1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01616:Or52p1 APN 7 104,266,928 (GRCm39) missense probably damaging 0.98
IGL01908:Or52p1 APN 7 104,266,906 (GRCm39) missense probably damaging 1.00
IGL02695:Or52p1 APN 7 104,267,678 (GRCm39) missense probably damaging 1.00
IGL03055:Or52p1 UTSW 7 104,267,413 (GRCm39) missense probably damaging 1.00
R0184:Or52p1 UTSW 7 104,267,447 (GRCm39) missense probably damaging 1.00
R4674:Or52p1 UTSW 7 104,267,631 (GRCm39) nonsense probably null
R4675:Or52p1 UTSW 7 104,267,631 (GRCm39) nonsense probably null
R4723:Or52p1 UTSW 7 104,267,696 (GRCm39) missense possibly damaging 0.56
R4979:Or52p1 UTSW 7 104,267,812 (GRCm39) missense probably null 0.03
R6273:Or52p1 UTSW 7 104,267,102 (GRCm39) missense probably damaging 1.00
R6359:Or52p1 UTSW 7 104,267,510 (GRCm39) missense probably damaging 1.00
R6582:Or52p1 UTSW 7 104,267,648 (GRCm39) missense probably damaging 1.00
R6750:Or52p1 UTSW 7 104,267,320 (GRCm39) missense probably damaging 0.99
R7426:Or52p1 UTSW 7 104,267,059 (GRCm39) missense probably damaging 1.00
R7786:Or52p1 UTSW 7 104,266,925 (GRCm39) missense probably benign 0.02
R8068:Or52p1 UTSW 7 104,267,460 (GRCm39) nonsense probably null
R8324:Or52p1 UTSW 7 104,267,321 (GRCm39) missense probably benign 0.00
R8486:Or52p1 UTSW 7 104,267,069 (GRCm39) missense possibly damaging 0.47
R8828:Or52p1 UTSW 7 104,267,486 (GRCm39) missense probably damaging 1.00
R8933:Or52p1 UTSW 7 104,266,873 (GRCm39) missense probably benign 0.05
R8971:Or52p1 UTSW 7 104,267,467 (GRCm39) missense probably damaging 1.00
R9329:Or52p1 UTSW 7 104,267,705 (GRCm39) missense probably damaging 1.00
X0065:Or52p1 UTSW 7 104,266,965 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTCGACTCTCATCCCAGGAAGCC -3'
(R):5'- TGCAGAGGTCTTCTGGACTGAGTAG -3'

Sequencing Primer
(F):5'- CCCGGTCCAAAGCCTTAG -3'
(R):5'- TGAGTAGACCCTTCCATCATAGAG -3'
Posted On 2013-04-11