Incidental Mutation 'R0462:Or52a5'
ID 41384
Institutional Source Beutler Lab
Gene Symbol Or52a5
Ensembl Gene ENSMUSG00000061626
Gene Name olfactory receptor family 52 subfamily A member 5
Synonyms Olfr68, MOR22-3, GA_x6K02T2PBJ9-6504436-6503489, 3'[b]2
MMRRC Submission 038662-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R0462 (G1)
Quality Score 84
Status Not validated
Chromosome 7
Chromosomal Location 103426603-103427550 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103426770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 261 (S261T)
Ref Sequence ENSEMBL: ENSMUSP00000150493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072513] [ENSMUST00000216811]
AlphaFold E9PYY2
Predicted Effect probably benign
Transcript: ENSMUST00000072513
AA Change: S261T

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000072329
Gene: ENSMUSG00000061626
AA Change: S261T

DomainStartEndE-ValueType
Pfam:7tm_4 33 313 3e-101 PFAM
Pfam:7TM_GPCR_Srx 34 237 4.5e-7 PFAM
Pfam:7TM_GPCR_Srsx 37 264 1.7e-6 PFAM
Pfam:7tm_1 43 295 2.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216811
AA Change: S261T

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 A T 11: 101,304,917 (GRCm39) D190E probably damaging Het
Acnat2 A G 4: 49,383,084 (GRCm39) probably null Het
Acot10 T G 15: 20,666,712 (GRCm39) T10P possibly damaging Het
Aldh7a1 T C 18: 56,667,286 (GRCm39) probably null Het
Alkbh7 G A 17: 57,305,443 (GRCm39) V87I probably benign Het
Ano2 A T 6: 125,689,238 (GRCm39) H121L probably benign Het
Apob A T 12: 8,050,896 (GRCm39) Y1040F probably damaging Het
Arhgap25 A T 6: 87,436,942 (GRCm39) V636E possibly damaging Het
Atad2b A T 12: 4,991,973 (GRCm39) T191S possibly damaging Het
Atpsckmt T C 15: 31,617,018 (GRCm39) M161T probably damaging Het
Btbd9 A T 17: 30,749,191 (GRCm39) V41D possibly damaging Het
Bzw2 G A 12: 36,174,023 (GRCm39) R25C probably damaging Het
Carmil1 T C 13: 24,206,494 (GRCm39) S1326G probably benign Het
Cdh18 A G 15: 23,366,971 (GRCm39) R226G probably damaging Het
Cdh3 A G 8: 107,282,012 (GRCm39) N800S possibly damaging Het
Cep152 A T 2: 125,425,854 (GRCm39) V837E possibly damaging Het
Cep85 G A 4: 133,858,732 (GRCm39) T713M possibly damaging Het
Chd7 T C 4: 8,850,821 (GRCm39) Y1736H probably damaging Het
Chst3 T C 10: 60,022,535 (GRCm39) E104G probably benign Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Cmah T A 13: 24,620,724 (GRCm39) S319R possibly damaging Het
Cnbd1 A G 4: 18,895,044 (GRCm39) F233L probably benign Het
Cpne5 T C 17: 29,395,163 (GRCm39) E251G probably benign Het
Csf2rb2 G A 15: 78,169,373 (GRCm39) P485L probably damaging Het
Dimt1 T C 13: 107,085,264 (GRCm39) M70T possibly damaging Het
Dlk2 A G 17: 46,614,024 (GRCm39) *383W probably null Het
Dnah2 G A 11: 69,350,027 (GRCm39) R2369C probably damaging Het
Dock2 A G 11: 34,218,052 (GRCm39) F1173L possibly damaging Het
Dok7 A G 5: 35,223,806 (GRCm39) H115R possibly damaging Het
Dpy19l1 A G 9: 24,325,645 (GRCm39) I720T probably benign Het
Eps8 A T 6: 137,491,309 (GRCm39) D356E probably benign Het
Exoc1 A G 5: 76,691,464 (GRCm39) N263D probably benign Het
Fbxl3 T C 14: 103,320,322 (GRCm39) D375G probably damaging Het
Fcgbpl1 A T 7: 27,836,765 (GRCm39) D228V probably damaging Het
Flg2 A T 3: 93,108,744 (GRCm39) E257D probably benign Het
Fstl4 A G 11: 53,077,229 (GRCm39) D662G probably benign Het
Gbp10 G T 5: 105,366,390 (GRCm39) Q505K possibly damaging Het
Gemin2 C T 12: 59,060,305 (GRCm39) P15S probably damaging Het
Grhl2 A G 15: 37,344,919 (GRCm39) M514V probably benign Het
Hgs A G 11: 120,369,970 (GRCm39) N413D possibly damaging Het
Il12rb2 T C 6: 67,280,594 (GRCm39) S538G possibly damaging Het
Kdm5a A G 6: 120,379,561 (GRCm39) D623G probably damaging Het
Kifbp A T 10: 62,395,235 (GRCm39) I469N probably damaging Het
Matk G T 10: 81,095,527 (GRCm39) V116F probably damaging Het
Mcm3 T C 1: 20,875,556 (GRCm39) T694A probably benign Het
Mctp1 C A 13: 76,949,520 (GRCm39) H260Q probably damaging Het
Mios T A 6: 8,215,743 (GRCm39) I313K probably benign Het
Muc4 T A 16: 32,582,910 (GRCm39) Y2562N possibly damaging Het
Naip5 T A 13: 100,358,240 (GRCm39) I999F probably damaging Het
Or11h4 T A 14: 50,974,554 (GRCm39) I22L probably benign Het
Or14j7 A T 17: 38,234,667 (GRCm39) D70V probably damaging Het
Or1x6 A G 11: 50,939,336 (GRCm39) Y134C probably damaging Het
Or7g12 A T 9: 18,900,198 (GRCm39) I305F probably benign Het
Or8g52 T A 9: 39,630,706 (GRCm39) F61Y probably benign Het
Pafah1b1 A G 11: 74,568,541 (GRCm39) V396A probably benign Het
Pard6b T A 2: 167,929,467 (GRCm39) I91N possibly damaging Het
Pdzd2 T C 15: 12,592,246 (GRCm39) S133G probably damaging Het
Plcg2 T G 8: 118,312,044 (GRCm39) S445R probably benign Het
Plekhd1 G T 12: 80,768,352 (GRCm39) V396L probably damaging Het
Ppp4r2 A G 6: 100,843,518 (GRCm39) D294G possibly damaging Het
Ppwd1 T C 13: 104,359,468 (GRCm39) probably null Het
Prr22 A G 17: 57,077,551 (GRCm39) probably benign Het
Psme4 A G 11: 30,798,117 (GRCm39) D1370G probably damaging Het
Rac3 T A 11: 120,613,684 (GRCm39) V86D probably damaging Het
Rnf207 T C 4: 152,397,829 (GRCm39) S335G possibly damaging Het
Rxfp3 A G 15: 11,037,063 (GRCm39) L103P probably damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Smpdl3a G T 10: 57,670,827 (GRCm39) C17F probably benign Het
Spaca7b T A 8: 11,711,749 (GRCm39) probably benign Het
Spata31g1 T A 4: 42,973,429 (GRCm39) F921I probably benign Het
Spen A T 4: 141,200,962 (GRCm39) I2555N probably damaging Het
Srpk2 G T 5: 23,723,424 (GRCm39) T564K probably damaging Het
Stard4 C T 18: 33,338,202 (GRCm39) R116H probably damaging Het
Supt7l A T 5: 31,677,640 (GRCm39) S175R probably damaging Het
Sycp1 A T 3: 102,726,422 (GRCm39) Y932N possibly damaging Het
Tas2r122 T C 6: 132,688,141 (GRCm39) M251V probably benign Het
Tbx15 A T 3: 99,223,634 (GRCm39) E274V probably damaging Het
Tex52 A G 6: 128,361,917 (GRCm39) E298G probably benign Het
Tmem101 T C 11: 102,046,693 (GRCm39) M59V probably benign Het
Tmem132b T C 5: 125,862,990 (GRCm39) V665A probably damaging Het
Trim23 T C 13: 104,334,541 (GRCm39) V347A probably damaging Het
Ush2a A G 1: 188,643,136 (GRCm39) H4166R probably benign Het
Vmn2r101 G T 17: 19,810,431 (GRCm39) V406L probably benign Het
Vrk3 A G 7: 44,413,624 (GRCm39) D166G possibly damaging Het
Washc4 T A 10: 83,392,777 (GRCm39) M259K probably benign Het
Wdr70 T C 15: 8,108,645 (GRCm39) D167G probably benign Het
Zfp1005 A G 2: 150,111,122 (GRCm39) E604G possibly damaging Het
Zfp28 A T 7: 6,395,239 (GRCm39) Q248L possibly damaging Het
Zfp39 A G 11: 58,781,232 (GRCm39) I510T probably benign Het
Zfp710 T A 7: 79,740,089 (GRCm39) *646R probably null Het
Zfp90 C T 8: 107,151,892 (GRCm39) S535L possibly damaging Het
Zfp949 C T 9: 88,450,787 (GRCm39) T119I possibly damaging Het
Other mutations in Or52a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Or52a5 APN 7 103,427,448 (GRCm39) missense probably benign
IGL03310:Or52a5 APN 7 103,426,634 (GRCm39) missense probably benign 0.04
R0135:Or52a5 UTSW 7 103,426,970 (GRCm39) missense probably damaging 0.99
R0966:Or52a5 UTSW 7 103,426,656 (GRCm39) missense probably damaging 1.00
R1199:Or52a5 UTSW 7 103,427,192 (GRCm39) missense probably damaging 1.00
R1288:Or52a5 UTSW 7 103,427,249 (GRCm39) missense possibly damaging 0.94
R1597:Or52a5 UTSW 7 103,427,267 (GRCm39) missense probably benign
R4631:Or52a5 UTSW 7 103,426,682 (GRCm39) missense probably damaging 1.00
R4754:Or52a5 UTSW 7 103,426,875 (GRCm39) missense probably benign 0.00
R5184:Or52a5 UTSW 7 103,426,611 (GRCm39) missense probably benign 0.00
R5654:Or52a5 UTSW 7 103,427,182 (GRCm39) missense probably damaging 1.00
R7994:Or52a5 UTSW 7 103,426,607 (GRCm39) missense probably benign 0.05
R8026:Or52a5 UTSW 7 103,427,547 (GRCm39) missense probably benign
R8190:Or52a5 UTSW 7 103,426,802 (GRCm39) missense probably damaging 1.00
R8502:Or52a5 UTSW 7 103,426,968 (GRCm39) missense probably benign
R8815:Or52a5 UTSW 7 103,427,063 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- AGCATTTTCAGGACTTGGTCACGG -3'
(R):5'- AACTCACCACTTGCCTTGGAGC -3'

Sequencing Primer
(F):5'- AAGGTCTGACAGGAGGATGT -3'
(R):5'- CATTGTGAAACTGGCAGCTC -3'
Posted On 2013-05-23