Incidental Mutation 'R6681:Or5j1'
ID 527484
Institutional Source Beutler Lab
Gene Symbol Or5j1
Ensembl Gene ENSMUSG00000075164
Gene Name olfactory receptor family 5 subfamily J member 1
Synonyms GA_x6K02T2Q125-48541463-48540525, Olfr1106, MOR172-8_p, MOR172-6
MMRRC Submission 044800-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R6681 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 86878640-86879578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86878942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 213 (T213A)
Ref Sequence ENSEMBL: ENSMUSP00000149092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099867] [ENSMUST00000213781] [ENSMUST00000217650]
AlphaFold Q7TR57
Predicted Effect probably benign
Transcript: ENSMUST00000099867
AA Change: T213A

PolyPhen 2 Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000097452
Gene: ENSMUSG00000075164
AA Change: T213A

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.2e-53 PFAM
Pfam:7tm_1 41 290 1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213781
AA Change: T213A

PolyPhen 2 Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000217650
AA Change: T213A

PolyPhen 2 Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 98% (45/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,915,447 (GRCm39) T971S probably damaging Het
Catsperb C T 12: 101,590,994 (GRCm39) Q1021* probably null Het
Ccdc62 A G 5: 124,072,156 (GRCm39) T62A probably benign Het
Cuzd1 A G 7: 130,913,412 (GRCm39) S402P probably damaging Het
Dcun1d1 C T 3: 35,949,819 (GRCm39) V244M probably damaging Het
Dennd2c A G 3: 103,038,977 (GRCm39) T42A probably benign Het
Dnah7a T C 1: 53,560,385 (GRCm39) probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dpp4 A T 2: 62,178,893 (GRCm39) F607L probably benign Het
Ech1 C T 7: 28,529,763 (GRCm39) probably null Het
Fam53a A G 5: 33,765,184 (GRCm39) L174P probably damaging Het
Fh1 T C 1: 175,446,690 (GRCm39) D62G probably null Het
Gpatch11 T C 17: 79,147,528 (GRCm39) I103T probably damaging Het
Hmgcll1 A T 9: 75,988,731 (GRCm39) T169S probably benign Het
Kbtbd3 A T 9: 4,330,687 (GRCm39) I354F probably benign Het
Kdm5b T C 1: 134,541,007 (GRCm39) F700L possibly damaging Het
Mamdc4 C A 2: 25,457,756 (GRCm39) G439V probably damaging Het
Mrps30 A T 13: 118,517,134 (GRCm39) S362T probably damaging Het
Mug1 C T 6: 121,815,683 (GRCm39) S29L possibly damaging Het
Myh2 G A 11: 67,069,174 (GRCm39) D328N probably damaging Het
Or10j3b C A 1: 173,043,973 (GRCm39) H252N probably damaging Het
Or5b98 A G 19: 12,931,823 (GRCm39) Y290C probably damaging Het
Or8g54 T A 9: 39,706,710 (GRCm39) I13N probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pira13 T A 7: 3,825,251 (GRCm39) M464L probably benign Het
Pus7l G A 15: 94,425,746 (GRCm39) P552S probably benign Het
Rest A G 5: 77,428,844 (GRCm39) K421R probably damaging Het
Rttn C A 18: 89,032,735 (GRCm39) H668N probably damaging Het
Scn9a T C 2: 66,393,686 (GRCm39) I228V possibly damaging Het
Scp2 G T 4: 107,948,513 (GRCm39) Q155K probably damaging Het
Sec61a2 G A 2: 5,881,219 (GRCm39) R18* probably null Het
Serpinb8 T A 1: 107,525,321 (GRCm39) M41K probably damaging Het
Sgsm2 A T 11: 74,756,204 (GRCm39) W382R probably damaging Het
Slc26a10 G T 10: 127,009,530 (GRCm39) T606N possibly damaging Het
Slc30a6 T C 17: 74,711,027 (GRCm39) I40T possibly damaging Het
Slfn5 G A 11: 82,847,204 (GRCm39) E30K possibly damaging Het
Sorcs2 C A 5: 36,555,154 (GRCm39) R79L probably benign Het
Tmc5 G A 7: 118,268,527 (GRCm39) S865N probably damaging Het
Tmprss11c T A 5: 86,437,119 (GRCm39) M1L possibly damaging Het
Trpv5 C G 6: 41,630,288 (GRCm39) E601Q probably damaging Het
Ttc39b A T 4: 83,158,285 (GRCm39) probably benign Het
Ttll6 T A 11: 96,029,689 (GRCm39) C201S probably damaging Het
Vezt A G 10: 93,832,859 (GRCm39) V204A probably benign Het
Vmn1r45 T A 6: 89,910,985 (GRCm39) probably benign Het
Zfp433 A T 10: 81,556,722 (GRCm39) H408L probably damaging Het
Zfp865 T C 7: 5,032,450 (GRCm39) I145T possibly damaging Het
Other mutations in Or5j1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:Or5j1 APN 2 86,878,632 (GRCm39) utr 3 prime probably benign
IGL02326:Or5j1 APN 2 86,879,355 (GRCm39) missense possibly damaging 0.82
IGL03087:Or5j1 APN 2 86,879,356 (GRCm39) missense possibly damaging 0.90
R0040:Or5j1 UTSW 2 86,879,548 (GRCm39) missense probably damaging 1.00
R0256:Or5j1 UTSW 2 86,879,400 (GRCm39) missense probably damaging 1.00
R0487:Or5j1 UTSW 2 86,878,837 (GRCm39) missense probably damaging 0.96
R0730:Or5j1 UTSW 2 86,879,492 (GRCm39) missense probably benign 0.00
R1978:Or5j1 UTSW 2 86,879,179 (GRCm39) missense possibly damaging 0.83
R5335:Or5j1 UTSW 2 86,879,509 (GRCm39) missense probably damaging 1.00
R6611:Or5j1 UTSW 2 86,879,577 (GRCm39) start codon destroyed probably null 1.00
R7322:Or5j1 UTSW 2 86,878,823 (GRCm39) nonsense probably null
R7584:Or5j1 UTSW 2 86,879,478 (GRCm39) missense probably benign 0.19
R7731:Or5j1 UTSW 2 86,879,578 (GRCm39) start codon destroyed probably null 0.99
R8011:Or5j1 UTSW 2 86,879,190 (GRCm39) missense probably damaging 1.00
R8959:Or5j1 UTSW 2 86,879,551 (GRCm39) missense possibly damaging 0.94
R9102:Or5j1 UTSW 2 86,879,171 (GRCm39) missense possibly damaging 0.71
Z1088:Or5j1 UTSW 2 86,878,777 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTAAGGAGTACTGAGAGCTTGG -3'
(R):5'- TGGCCATTGTAAACCCACTAAC -3'

Sequencing Primer
(F):5'- CTGAGAGCTTGGTTGAATATAACTG -3'
(R):5'- CGTGCTTAGGAGGTACTATCACATC -3'
Posted On 2018-07-23