Incidental Mutation 'R4993:Or1j20'
ID 384968
Institutional Source Beutler Lab
Gene Symbol Or1j20
Ensembl Gene ENSMUSG00000053146
Gene Name olfactory receptor family 1 subfamily J member 20
Synonyms MOR136-10, GA_x6K02T2NLDC-33564136-33565083, Olfr352
MMRRC Submission 042587-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R4993 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 36759580-36760527 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 36760000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 141 (Q141K)
Ref Sequence ENSEMBL: ENSMUSP00000149568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065416] [ENSMUST00000217325]
AlphaFold Q8VGJ9
Predicted Effect probably benign
Transcript: ENSMUST00000065416
AA Change: Q141K

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000070758
Gene: ENSMUSG00000053146
AA Change: Q141K

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 1.4e-56 PFAM
Pfam:7TM_GPCR_Srsx 38 308 1.8e-7 PFAM
Pfam:7tm_1 44 293 1.2e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217325
AA Change: Q141K

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
9130008F23Rik G T 17: 41,191,052 (GRCm39) Q126K probably benign Het
Abca15 C A 7: 120,000,941 (GRCm39) N1492K probably damaging Het
Afap1l2 C T 19: 56,906,472 (GRCm39) D402N probably damaging Het
Akap11 A G 14: 78,750,408 (GRCm39) F660L probably damaging Het
Bcl3 T C 7: 19,554,102 (GRCm39) T89A probably benign Het
Bub1b T C 2: 118,467,251 (GRCm39) I858T possibly damaging Het
Cdk19 A G 10: 40,352,214 (GRCm39) D288G possibly damaging Het
Cyp2d34 T A 15: 82,502,530 (GRCm39) D202V probably damaging Het
Dip2c T G 13: 9,625,259 (GRCm39) Y584* probably null Het
Dpf3 A T 12: 83,378,635 (GRCm39) probably null Het
Drp2 G A X: 133,342,065 (GRCm39) R567H probably damaging Homo
Emid1 G T 11: 5,081,512 (GRCm39) Q212K probably benign Het
Esm1 C T 13: 113,349,933 (GRCm39) Q118* probably null Het
Fahd2a T G 2: 127,278,284 (GRCm39) I308L probably benign Het
Fanci T C 7: 79,085,126 (GRCm39) *851Q probably null Het
Fastkd1 C A 2: 69,533,084 (GRCm39) V428F probably damaging Het
Fat2 A T 11: 55,173,918 (GRCm39) I2265N probably damaging Het
Gale C A 4: 135,694,171 (GRCm39) H191Q probably damaging Het
Ghsr T A 3: 27,426,403 (GRCm39) V153E possibly damaging Het
Gpc6 A G 14: 117,861,951 (GRCm39) N289S possibly damaging Het
Hoxb6 A T 11: 96,191,537 (GRCm39) Y153F probably damaging Het
Ints3 T C 3: 90,322,814 (GRCm39) T139A probably benign Het
Irf2bp2 A G 8: 127,319,410 (GRCm39) S256P probably benign Het
Klf4 G T 4: 55,530,640 (GRCm39) P148Q probably damaging Het
Loxl1 T G 9: 58,219,820 (GRCm39) H117P probably damaging Het
Lpl A G 8: 69,348,445 (GRCm39) K225E probably benign Het
Lrba T A 3: 86,267,344 (GRCm39) V1678D probably damaging Het
Med1 A T 11: 98,054,730 (GRCm39) F398Y probably damaging Het
Mfap2 T C 4: 140,742,889 (GRCm39) *186Q probably null Het
Mfsd3 T C 15: 76,586,182 (GRCm39) L105P probably damaging Het
Mlxip T G 5: 123,533,357 (GRCm39) I122S probably damaging Het
Mmrn2 A T 14: 34,118,355 (GRCm39) Y107F probably damaging Het
Mtg1 G T 7: 139,720,196 (GRCm39) D88Y probably null Het
Mutyh T A 4: 116,675,132 (GRCm39) S426R probably benign Het
Myo16 C T 8: 10,526,094 (GRCm39) T878I probably damaging Het
Myo9a T A 9: 59,768,755 (GRCm39) Y912* probably null Het
Ncor1 A C 11: 62,234,167 (GRCm39) I669R probably damaging Het
Ndufs1 T C 1: 63,202,935 (GRCm39) I210V probably benign Het
Nek9 A G 12: 85,357,194 (GRCm39) C657R probably damaging Het
Noct C T 3: 51,157,442 (GRCm39) T260I probably damaging Het
Nr1h4 A T 10: 89,334,042 (GRCm39) M102K probably benign Het
Obscn G A 11: 59,015,587 (GRCm39) R1054C possibly damaging Het
Or10ag58 T A 2: 87,265,496 (GRCm39) F222I probably benign Het
Or2a57 A G 6: 43,213,390 (GRCm39) M283V possibly damaging Het
Or51ah3 T A 7: 103,210,524 (GRCm39) I280N possibly damaging Het
Or52z14 A T 7: 103,252,863 (GRCm39) M1L probably benign Het
Or5p75-ps1 G A 7: 108,107,450 (GRCm39) M62I probably damaging Het
Otol1 C A 3: 69,926,211 (GRCm39) Q129K probably benign Het
Otx1 A T 11: 21,948,532 (GRCm39) probably null Het
Pcdhac2 C A 18: 37,279,304 (GRCm39) N761K probably damaging Het
Pde1c A T 6: 56,127,609 (GRCm39) M452K probably damaging Het
Phkg2 T C 7: 127,173,113 (GRCm39) Y24H probably damaging Het
Pigr G A 1: 130,769,554 (GRCm39) D122N probably benign Het
Prg4 C T 1: 150,336,432 (GRCm39) C97Y probably damaging Het
Ptdss1 T C 13: 67,093,352 (GRCm39) V64A probably benign Het
Ralgapa2 T C 2: 146,289,231 (GRCm39) K324E probably damaging Het
Rfx5 G A 3: 94,863,126 (GRCm39) V73I probably benign Het
Riiad1 T C 3: 94,380,170 (GRCm39) T42A probably benign Het
Rims2 T C 15: 39,317,841 (GRCm39) V640A possibly damaging Het
Rnpep G T 1: 135,190,770 (GRCm39) S592Y possibly damaging Het
Scap T C 9: 110,207,458 (GRCm39) L431P probably damaging Het
Siglec1 T A 2: 130,915,281 (GRCm39) I1437F possibly damaging Het
Skic3 T A 13: 76,331,055 (GRCm39) M1495K probably damaging Het
Skint1 T C 4: 111,885,530 (GRCm39) probably null Het
Slc44a1 A G 4: 53,543,644 (GRCm39) E396G probably damaging Het
Slc4a2 T C 5: 24,639,867 (GRCm39) F521S probably damaging Het
Smarcc1 T A 9: 110,004,129 (GRCm39) S394R probably damaging Het
Socs1 A G 16: 10,602,549 (GRCm39) S63P probably benign Het
Spopfm2 C T 3: 94,083,623 (GRCm39) G63R probably damaging Het
Sun1 T G 5: 139,211,088 (GRCm39) S20A possibly damaging Het
Tac4 A T 11: 95,156,068 (GRCm39) K50* probably null Het
Tasor T A 14: 27,151,071 (GRCm39) W16R possibly damaging Het
Tcaf2 A G 6: 42,619,574 (GRCm39) I151T probably damaging Het
Tcf4 T C 18: 69,814,840 (GRCm39) V587A probably damaging Het
Ttn T A 2: 76,571,253 (GRCm39) K24801* probably null Het
Tuba3b G T 6: 145,566,999 (GRCm39) M413I possibly damaging Het
Ufl1 C T 4: 25,267,832 (GRCm39) A280T possibly damaging Het
Ugt2b5 T A 5: 87,287,532 (GRCm39) I212L probably benign Het
Umodl1 A G 17: 31,205,459 (GRCm39) T685A probably benign Het
Uqcrc1 T A 9: 108,773,878 (GRCm39) V183D probably damaging Het
Ush2a A G 1: 188,642,917 (GRCm39) N4093S probably benign Het
Vmn1r167 C T 7: 23,204,653 (GRCm39) S121N probably damaging Het
Vmn1r47 A G 6: 89,999,740 (GRCm39) S291G possibly damaging Het
Vmn2r108 A G 17: 20,701,449 (GRCm39) V17A probably benign Het
Vmn2r58 T A 7: 41,487,176 (GRCm39) H573L probably benign Het
Xirp1 C T 9: 119,847,858 (GRCm39) V342I probably damaging Het
Zfp462 A G 4: 55,051,204 (GRCm39) M2226V possibly damaging Het
Zfp467 G A 6: 48,415,963 (GRCm39) H230Y probably damaging Het
Zfp595 T A 13: 67,464,465 (GRCm39) K599N probably damaging Het
Zfp819 C A 7: 43,266,720 (GRCm39) T401K probably benign Het
Other mutations in Or1j20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:Or1j20 APN 2 36,760,222 (GRCm39) missense probably benign 0.01
IGL01538:Or1j20 APN 2 36,760,532 (GRCm39) utr 3 prime probably benign
IGL01716:Or1j20 APN 2 36,759,679 (GRCm39) missense probably benign 0.11
IGL01735:Or1j20 APN 2 36,759,698 (GRCm39) missense possibly damaging 0.95
IGL01998:Or1j20 APN 2 36,759,658 (GRCm39) missense probably benign 0.01
IGL02820:Or1j20 APN 2 36,759,871 (GRCm39) missense probably benign 0.01
IGL03267:Or1j20 APN 2 36,760,513 (GRCm39) missense probably benign 0.00
IGL03306:Or1j20 APN 2 36,760,537 (GRCm39) utr 3 prime probably benign
R0013:Or1j20 UTSW 2 36,760,172 (GRCm39) missense probably damaging 1.00
R0081:Or1j20 UTSW 2 36,760,022 (GRCm39) missense possibly damaging 0.58
R0421:Or1j20 UTSW 2 36,759,653 (GRCm39) missense possibly damaging 0.89
R1613:Or1j20 UTSW 2 36,760,405 (GRCm39) missense possibly damaging 0.91
R1842:Or1j20 UTSW 2 36,759,601 (GRCm39) missense probably damaging 1.00
R2698:Or1j20 UTSW 2 36,760,208 (GRCm39) missense possibly damaging 0.94
R4463:Or1j20 UTSW 2 36,760,205 (GRCm39) missense probably benign 0.31
R5553:Or1j20 UTSW 2 36,760,477 (GRCm39) missense probably benign 0.00
R5666:Or1j20 UTSW 2 36,760,401 (GRCm39) missense probably benign 0.11
R5934:Or1j20 UTSW 2 36,760,280 (GRCm39) missense probably benign 0.34
R6290:Or1j20 UTSW 2 36,760,448 (GRCm39) missense probably damaging 1.00
R6312:Or1j20 UTSW 2 36,760,477 (GRCm39) missense probably benign 0.02
R7358:Or1j20 UTSW 2 36,759,890 (GRCm39) missense probably benign
R8383:Or1j20 UTSW 2 36,760,343 (GRCm39) missense probably damaging 1.00
R8392:Or1j20 UTSW 2 36,760,352 (GRCm39) missense probably damaging 1.00
R8967:Or1j20 UTSW 2 36,760,066 (GRCm39) missense probably damaging 1.00
R9311:Or1j20 UTSW 2 36,760,405 (GRCm39) missense probably damaging 1.00
X0022:Or1j20 UTSW 2 36,760,289 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCACAGCTCCAAAGATGCTC -3'
(R):5'- CAGTTATGATCACCACTCCTACAG -3'

Sequencing Primer
(F):5'- GATGCTCGTGAATATGCTGACACAC -3'
(R):5'- TCCTACAGTGAAGATAACCAGTTCG -3'
Posted On 2016-05-10