Incidental Mutation 'R1746:Or5p52'
ID 193982
Institutional Source Beutler Lab
Gene Symbol Or5p52
Ensembl Gene ENSMUSG00000073893
Gene Name olfactory receptor family 5 subfamily P member 52
Synonyms Olfr472, GA_x6K02T2PBJ9-10231953-10232885, MOR204-5
MMRRC Submission 039778-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R1746 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 107501926-107502858 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 107502093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 56 (H56Q)
Ref Sequence ENSEMBL: ENSMUSP00000150404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000209670] [ENSMUST00000210420] [ENSMUST00000216937]
AlphaFold Q8VG43
Predicted Effect probably benign
Transcript: ENSMUST00000084760
AA Change: H56Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000081815
Gene: ENSMUSG00000063120
AA Change: H56Q

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.6e-49 PFAM
Pfam:7tm_1 41 290 8.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209670
AA Change: H56Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000210420
AA Change: H56Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210856
AA Change: H56Q
Predicted Effect probably benign
Transcript: ENSMUST00000216937
AA Change: H56Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.6%
Validation Efficiency 100% (62/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 T A 13: 70,927,717 (GRCm39) probably null Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Aknad1 A G 3: 108,659,099 (GRCm39) T38A possibly damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arhgap21 T C 2: 20,865,910 (GRCm39) E902G probably damaging Het
Atg2b A G 12: 105,635,588 (GRCm39) S227P possibly damaging Het
Atp2c2 C T 8: 120,461,182 (GRCm39) probably benign Het
Atxn10 T C 15: 85,260,864 (GRCm39) V203A probably damaging Het
Chd9 A C 8: 91,737,326 (GRCm39) E1468D probably benign Het
Cntn5 T A 9: 9,831,577 (GRCm39) D601V probably damaging Het
Col4a2 G A 8: 11,496,020 (GRCm39) G1547D probably benign Het
Cul1 A G 6: 47,485,179 (GRCm39) E270G probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dmgdh C A 13: 93,888,933 (GRCm39) T857K probably benign Het
Ednra T G 8: 78,398,211 (GRCm39) T279P probably benign Het
Erbin A G 13: 103,987,339 (GRCm39) I407T probably damaging Het
Fggy A G 4: 95,814,965 (GRCm39) Y440C probably damaging Het
Flrt2 A T 12: 95,747,566 (GRCm39) N635Y possibly damaging Het
Fnbp1l A G 3: 122,350,140 (GRCm39) I357T probably benign Het
Gulp1 A G 1: 44,793,513 (GRCm39) H58R possibly damaging Het
Hid1 A T 11: 115,245,464 (GRCm39) V446E probably damaging Het
Igfn1 A G 1: 135,897,561 (GRCm39) S1002P possibly damaging Het
Klri1 A G 6: 129,675,118 (GRCm39) probably null Het
Kmt2d A C 15: 98,762,259 (GRCm39) L409R probably damaging Het
Ltn1 A C 16: 87,208,669 (GRCm39) S810A possibly damaging Het
Mysm1 G A 4: 94,836,648 (GRCm39) Q721* probably null Het
Nae1 A G 8: 105,254,017 (GRCm39) V105A possibly damaging Het
Nagpa C T 16: 5,021,503 (GRCm39) V83M probably damaging Het
Nrg2 G A 18: 36,154,975 (GRCm39) T503M probably damaging Het
Nrxn3 A G 12: 89,221,789 (GRCm39) M150V possibly damaging Het
Or8g28 A G 9: 39,169,498 (GRCm39) S157P probably damaging Het
Papola T A 12: 105,773,468 (GRCm39) D162E probably benign Het
Plxnc1 T C 10: 94,680,041 (GRCm39) probably null Het
Ppp1r16b T A 2: 158,588,585 (GRCm39) probably null Het
Ptprq T A 10: 107,474,691 (GRCm39) E1338V probably damaging Het
Puf60 G A 15: 75,942,633 (GRCm39) H437Y probably benign Het
Qsox2 C T 2: 26,110,650 (GRCm39) V189I probably benign Het
Rad51ap2 A T 12: 11,507,776 (GRCm39) D566V probably benign Het
Rb1cc1 T A 1: 6,333,237 (GRCm39) probably null Het
Rfpl4b C T 10: 38,697,049 (GRCm39) C184Y possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rundc3a GAGCC GAGCCAGCC 11: 102,291,739 (GRCm39) probably null Het
Scara5 A C 14: 65,968,539 (GRCm39) M271L probably benign Het
Sel1l2 A G 2: 140,127,157 (GRCm39) L118P probably damaging Het
Sema6a T A 18: 47,439,416 (GRCm39) probably benign Het
Siglech T A 7: 55,418,252 (GRCm39) H73Q probably benign Het
Sim1 A G 10: 50,860,205 (GRCm39) D689G probably benign Het
Skp2 T C 15: 9,139,530 (GRCm39) E55G possibly damaging Het
Slc1a1 T A 19: 28,871,869 (GRCm39) V114E probably benign Het
Slc26a6 G A 9: 108,738,916 (GRCm39) G614D probably benign Het
Sptbn2 C T 19: 4,795,992 (GRCm39) Q1724* probably null Het
Tet3 T C 6: 83,345,050 (GRCm39) T1796A probably damaging Het
Tmem117 A C 15: 94,829,714 (GRCm39) D183A possibly damaging Het
Trmt44 A G 5: 35,721,403 (GRCm39) S587P probably benign Het
Ttn G T 2: 76,619,166 (GRCm39) probably benign Het
Tubgcp5 G A 7: 55,458,285 (GRCm39) V399M probably benign Het
Txndc2 T A 17: 65,945,130 (GRCm39) D349V probably damaging Het
Uggt2 T A 14: 119,250,915 (GRCm39) N1194I probably benign Het
Vmn1r178 A T 7: 23,593,329 (GRCm39) I53L probably benign Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Other mutations in Or5p52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:Or5p52 APN 7 107,502,311 (GRCm39) missense probably damaging 1.00
IGL02002:Or5p52 APN 7 107,502,497 (GRCm39) missense possibly damaging 0.81
IGL02320:Or5p52 APN 7 107,502,038 (GRCm39) missense possibly damaging 0.78
IGL02701:Or5p52 APN 7 107,502,649 (GRCm39) missense probably benign 0.42
IGL03022:Or5p52 APN 7 107,502,188 (GRCm39) missense probably benign 0.18
IGL03214:Or5p52 APN 7 107,502,173 (GRCm39) missense probably benign 0.00
IGL03257:Or5p52 APN 7 107,501,963 (GRCm39) missense probably benign 0.01
IGL03372:Or5p52 APN 7 107,502,577 (GRCm39) missense probably damaging 1.00
G1Funyon:Or5p52 UTSW 7 107,502,833 (GRCm39) missense probably benign 0.24
R0081:Or5p52 UTSW 7 107,502,212 (GRCm39) missense probably benign 0.00
R0669:Or5p52 UTSW 7 107,502,446 (GRCm39) missense probably damaging 1.00
R0932:Or5p52 UTSW 7 107,502,397 (GRCm39) missense possibly damaging 0.94
R1158:Or5p52 UTSW 7 107,502,130 (GRCm39) missense possibly damaging 0.75
R3777:Or5p52 UTSW 7 107,501,954 (GRCm39) missense probably benign
R3778:Or5p52 UTSW 7 107,501,954 (GRCm39) missense probably benign
R4605:Or5p52 UTSW 7 107,502,445 (GRCm39) missense probably benign 0.24
R4661:Or5p52 UTSW 7 107,502,188 (GRCm39) missense probably benign 0.18
R4675:Or5p52 UTSW 7 107,502,567 (GRCm39) missense probably damaging 1.00
R5374:Or5p52 UTSW 7 107,502,698 (GRCm39) missense possibly damaging 0.52
R5686:Or5p52 UTSW 7 107,502,119 (GRCm39) missense probably damaging 0.99
R6030:Or5p52 UTSW 7 107,502,620 (GRCm39) missense probably benign 0.06
R6030:Or5p52 UTSW 7 107,502,620 (GRCm39) missense probably benign 0.06
R6164:Or5p52 UTSW 7 107,502,595 (GRCm39) missense probably benign 0.01
R6347:Or5p52 UTSW 7 107,502,157 (GRCm39) missense possibly damaging 0.68
R6995:Or5p52 UTSW 7 107,502,829 (GRCm39) missense probably benign 0.13
R7035:Or5p52 UTSW 7 107,502,140 (GRCm39) missense probably benign
R7818:Or5p52 UTSW 7 107,502,230 (GRCm39) missense probably benign 0.01
R7890:Or5p52 UTSW 7 107,502,250 (GRCm39) missense probably benign 0.01
R8189:Or5p52 UTSW 7 107,501,939 (GRCm39) missense probably damaging 0.99
R8301:Or5p52 UTSW 7 107,502,833 (GRCm39) missense probably benign 0.24
R8965:Or5p52 UTSW 7 107,502,314 (GRCm39) missense probably damaging 1.00
R9269:Or5p52 UTSW 7 107,502,527 (GRCm39) missense possibly damaging 0.94
R9478:Or5p52 UTSW 7 107,502,238 (GRCm39) missense probably damaging 0.99
R9566:Or5p52 UTSW 7 107,502,409 (GRCm39) missense possibly damaging 0.52
Z1176:Or5p52 UTSW 7 107,502,265 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCATACCACTGTGGCAGAGCTAATC -3'
(R):5'- ACACTTTCAGCAAAGGGGAGAAGTC -3'

Sequencing Primer
(F):5'- ACTGTGGCAGAGCTAATCATCTTG -3'
(R):5'- TGCTACATAGCGATCATAGGC -3'
Posted On 2014-05-23