Incidental Mutation 'R5374:Or5p52'
ID 428939
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 042950-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R5374 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 107501926-107502858 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107502698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 258 (I258T)
Ref Sequence ENSEMBL: ENSMUSP00000150404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000209670] [ENSMUST00000210420] [ENSMUST00000216937]
AlphaFold Q8VG43
Predicted Effect possibly damaging
Transcript: ENSMUST00000084760
AA Change: I258T

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000081815
Gene: ENSMUSG00000063120
AA Change: I258T

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.6e-49 PFAM
Pfam:7tm_1 41 290 8.1e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000209670
AA Change: I258T

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210420
AA Change: I258T

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210856
Predicted Effect possibly damaging
Transcript: ENSMUST00000216937
AA Change: I258T

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 96% (81/84)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,396 (GRCm39) S862G probably benign Het
Adgrf1 G A 17: 43,601,896 (GRCm39) probably benign Het
Adss2 T G 1: 177,623,954 (GRCm39) I3L probably benign Het
Anapc7 T A 5: 122,576,280 (GRCm39) D302E probably benign Het
Ank3 A G 10: 69,789,306 (GRCm39) probably null Het
Astn2 A C 4: 65,315,242 (GRCm39) V1145G probably damaging Het
Babam2 C T 5: 32,164,574 (GRCm39) probably benign Het
Blvrb A G 7: 27,165,271 (GRCm39) H238R possibly damaging Het
Cacna1b C T 2: 24,596,228 (GRCm39) V488I probably damaging Het
Ccdc88a C T 11: 29,413,409 (GRCm39) T649M possibly damaging Het
Cdh12 A C 15: 21,583,998 (GRCm39) S613R probably damaging Het
Cisd2 A G 3: 135,114,596 (GRCm39) V125A probably benign Het
Clcn2 C A 16: 20,528,419 (GRCm39) G478W possibly damaging Het
Cntnap2 T A 6: 47,084,903 (GRCm39) H1121Q probably benign Het
Corin A T 5: 72,462,296 (GRCm39) C876S probably damaging Het
Cox7c T C 13: 86,194,739 (GRCm39) Y19C probably benign Het
Cplane1 T C 15: 8,300,287 (GRCm39) V3198A unknown Het
Cspp1 T G 1: 10,204,351 (GRCm39) L1038R probably damaging Het
Cwc15 A G 9: 14,416,234 (GRCm39) K147E possibly damaging Het
Dlgap2 A G 8: 14,873,614 (GRCm39) D739G probably benign Het
Dmxl2 A G 9: 54,276,473 (GRCm39) probably benign Het
Dock5 A G 14: 68,043,205 (GRCm39) V864A possibly damaging Het
Dock7 A G 4: 98,877,275 (GRCm39) F1088L possibly damaging Het
Dpysl3 T C 18: 43,494,101 (GRCm39) Y193C probably damaging Het
Dtna T C 18: 23,784,670 (GRCm39) Y730H probably damaging Het
Dusp3 A G 11: 101,875,451 (GRCm39) Y38H possibly damaging Het
Eif3m A T 2: 104,843,277 (GRCm39) I151N probably damaging Het
Entpd2 C T 2: 25,289,738 (GRCm39) T380I probably damaging Het
Epb41l3 C A 17: 69,593,795 (GRCm39) H810N probably damaging Het
Fcrl5 A G 3: 87,353,698 (GRCm39) T348A probably benign Het
Ginm1 A G 10: 7,655,078 (GRCm39) S55P probably damaging Het
Glt1d1 C A 5: 127,734,148 (GRCm39) probably null Het
Gm15433 T A 1: 84,941,833 (GRCm39) noncoding transcript Het
Gm8221 A G 15: 77,510,352 (GRCm39) noncoding transcript Het
Gramd1c A G 16: 43,803,604 (GRCm39) V603A probably benign Het
Grm1 A G 10: 10,956,186 (GRCm39) S33P probably benign Het
Gstp3 T C 19: 4,107,922 (GRCm39) N137S possibly damaging Het
Kdm5d C T Y: 927,995 (GRCm39) P756S probably benign Het
Ly75 A T 2: 60,142,115 (GRCm39) L1332M possibly damaging Het
Med1 T A 11: 98,054,789 (GRCm39) K378N probably damaging Het
Mn1 A G 5: 111,569,752 (GRCm39) probably null Het
Mpo T C 11: 87,694,437 (GRCm39) probably null Het
Nom1 C G 5: 29,646,377 (GRCm39) R555G probably damaging Het
Nsmce4a C T 7: 130,139,900 (GRCm39) R276Q probably benign Het
Nt5c G A 11: 115,381,643 (GRCm39) probably null Het
Olfr908 CACAACAACA CACAACA 9: 38,427,434 (GRCm39) probably benign Het
Or52e18 G T 7: 104,609,203 (GRCm39) H245Q probably damaging Het
Pcdhga4 T C 18: 37,818,649 (GRCm39) V66A probably damaging Het
Pik3c3 T C 18: 30,445,614 (GRCm39) S534P probably benign Het
Pla2g4e A T 2: 120,016,876 (GRCm39) C222S probably benign Het
Plch1 A C 3: 63,605,499 (GRCm39) H1468Q probably benign Het
Psd2 T A 18: 36,140,556 (GRCm39) W610R probably damaging Het
Ptgs1 A T 2: 36,141,198 (GRCm39) K548N probably damaging Het
Ptprz1 T A 6: 23,007,354 (GRCm39) V1639E probably damaging Het
Rangap1 A T 15: 81,590,695 (GRCm39) S466T probably benign Het
Rgsl1 C T 1: 153,666,053 (GRCm39) V986I probably benign Het
Rhobtb3 T C 13: 76,027,014 (GRCm39) Y453C probably damaging Het
Rspry1 T C 8: 95,349,636 (GRCm39) V8A probably benign Het
Rspry1 C A 8: 95,380,892 (GRCm39) R399S probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Rxfp2 A G 5: 149,993,725 (GRCm39) T596A probably benign Het
Sap18b G A 8: 96,551,998 (GRCm39) A3T unknown Het
Serpina3j A G 12: 104,280,986 (GRCm39) D53G probably damaging Het
Skint3 T A 4: 112,155,386 (GRCm39) D381E possibly damaging Het
Slirp T C 12: 87,496,192 (GRCm39) S96P possibly damaging Het
Snx6 T C 12: 54,817,513 (GRCm39) E128G probably damaging Het
Stap1 A G 5: 86,238,787 (GRCm39) T152A possibly damaging Het
Tcf20 A T 15: 82,736,158 (GRCm39) N1764K probably damaging Het
Thap2 A T 10: 115,208,744 (GRCm39) Y125* probably null Het
Ticrr T G 7: 79,340,690 (GRCm39) Y1031* probably null Het
Tnrc18 G A 5: 142,725,911 (GRCm39) R1793C unknown Het
Trpm3 C T 19: 22,903,548 (GRCm39) R945* probably null Het
Ugt1a10 T A 1: 87,983,632 (GRCm39) D143E probably damaging Het
Ush2a C T 1: 188,487,403 (GRCm39) T3057M probably benign Het
Zc3h6 A T 2: 128,844,076 (GRCm39) I207F possibly damaging Het
Zfp518a T C 19: 40,901,954 (GRCm39) S628P probably benign Het
Zup1 T C 10: 33,803,462 (GRCm39) N541D possibly damaging 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
R1746:Or5p52 UTSW 7 107,502,093 (GRCm39) missense probably benign 0.01
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
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'- AGTGTCCTGCTCAGATGTCTCC -3'
(R):5'- AGATGCTAGGTGTGACATGG -3'

Sequencing Primer
(F):5'- TGCTCAGATGTCTCCATTATTGG -3'
(R):5'- TGCTAGGTGTGACATGGGTAAAG -3'
Posted On 2016-09-06