Incidental Mutation 'R7961:Or4k48'
ID 650100
Institutional Source Beutler Lab
Gene Symbol Or4k48
Ensembl Gene ENSMUSG00000109487
Gene Name olfactory receptor family 4 subfamily K member 48
Synonyms Olfr1298, GA_x6K02T2Q125-72697413-72696475, MOR248-6
MMRRC Submission 046005-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R7961 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 111475402-111476340 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 111476282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 20 (S20F)
Ref Sequence ENSEMBL: ENSMUSP00000146343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119566] [ENSMUST00000208284]
AlphaFold Q8VGE6
Predicted Effect probably damaging
Transcript: ENSMUST00000119566
AA Change: S20F

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000208284
AA Change: S20F

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 94% (44/47)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,878,870 (GRCm39) N751K possibly damaging Het
Bckdha G A 7: 25,330,903 (GRCm39) R288W probably damaging Het
Ccng1 G A 11: 40,642,096 (GRCm39) H229Y probably benign Het
Cenpn C A 8: 117,663,976 (GRCm39) T256N probably benign Het
Ciart A G 3: 95,788,629 (GRCm39) V70A possibly damaging Het
Clcc1 A G 3: 108,568,774 (GRCm39) N36S probably damaging Het
Cntnap1 G A 11: 101,069,121 (GRCm39) A192T probably benign Het
Dmrt1 T A 19: 25,523,245 (GRCm39) S199T possibly damaging Het
Dmrt3 T C 19: 25,588,272 (GRCm39) V37A possibly damaging Het
Dock1 T A 7: 134,346,786 (GRCm39) D239E possibly damaging Het
Dyrk3 A G 1: 131,063,995 (GRCm39) probably null Het
Engase A G 11: 118,377,686 (GRCm39) D571G possibly damaging Het
Gm45871 C T 18: 90,609,883 (GRCm39) H374Y probably damaging Het
Icam5 T C 9: 20,950,051 (GRCm39) V870A possibly damaging Het
Idh2 T C 7: 79,748,001 (GRCm39) H233R probably benign Het
Kcna5 A G 6: 126,510,517 (GRCm39) L537P probably benign Het
Krt71 T C 15: 101,643,877 (GRCm39) I454V probably damaging Het
Krtap5-4 C T 7: 141,857,671 (GRCm39) Q114* probably null Het
Loxl3 T C 6: 83,027,790 (GRCm39) F734S possibly damaging Het
Lpcat1 C T 13: 73,659,498 (GRCm39) T420I probably damaging Het
Mia2 T A 12: 59,206,425 (GRCm39) probably null Het
Neurod4 A T 10: 130,106,356 (GRCm39) V306D possibly damaging Het
Nkiras2 A T 11: 100,510,628 (GRCm39) probably benign Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Ntrk3 T A 7: 78,103,076 (GRCm39) D408V probably benign Het
Nubpl T A 12: 52,228,080 (GRCm39) L168* probably null Het
Odf1 A G 15: 38,226,840 (GRCm39) I247V unknown Het
Or4c35 A G 2: 89,808,131 (GRCm39) Q3R probably benign Het
Or5d41 C A 2: 88,055,033 (GRCm39) M114I possibly damaging Het
Pcsk1 T C 13: 75,274,958 (GRCm39) S516P probably benign Het
Pikfyve A G 1: 65,294,293 (GRCm39) D1411G probably damaging Het
Polm T C 11: 5,780,155 (GRCm39) D294G possibly damaging Het
Ppcs A T 4: 119,276,262 (GRCm39) S281T probably benign Het
Pramel34 T C 5: 93,784,543 (GRCm39) D307G probably damaging Het
Pspc1 G A 14: 57,009,304 (GRCm39) Q177* probably null Het
Rbm33 G A 5: 28,599,606 (GRCm39) G185R Het
Satb2 A G 1: 56,910,917 (GRCm39) S243P probably benign Het
Serinc5 T C 13: 92,797,699 (GRCm39) probably null Het
Sgsm1 T C 5: 113,430,510 (GRCm39) T292A probably damaging Het
Smad3 G A 9: 63,557,564 (GRCm39) R420C possibly damaging Het
Sntg1 C T 1: 8,433,794 (GRCm39) V486I probably damaging Het
Tep1 A G 14: 51,061,687 (GRCm39) S2610P possibly damaging Het
Tmem200a A G 10: 25,869,904 (GRCm39) S122P probably damaging Het
Tnks2 T A 19: 36,829,901 (GRCm39) M194K probably benign Het
Trav14d-3-dv8 A C 14: 53,316,224 (GRCm39) Q28P probably damaging Het
Trpm5 T C 7: 142,634,106 (GRCm39) E700G probably benign Het
Ubqln3 T A 7: 103,791,797 (GRCm39) I98L probably benign Het
Usp25 A G 16: 76,856,150 (GRCm39) I248V probably damaging Het
Vmn1r28 T C 6: 58,242,178 (GRCm39) V7A probably benign Het
Zfp60 G A 7: 27,447,881 (GRCm39) G183D probably benign Het
Other mutations in Or4k48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01393:Or4k48 APN 2 111,475,601 (GRCm39) missense probably damaging 1.00
IGL01571:Or4k48 APN 2 111,475,725 (GRCm39) missense probably benign 0.00
IGL02605:Or4k48 APN 2 111,475,850 (GRCm39) missense probably benign 0.00
IGL02652:Or4k48 APN 2 111,475,839 (GRCm39) missense probably benign 0.16
IGL02669:Or4k48 APN 2 111,476,236 (GRCm39) nonsense probably null
R0197:Or4k48 UTSW 2 111,476,136 (GRCm39) missense probably benign 0.00
R0701:Or4k48 UTSW 2 111,476,136 (GRCm39) missense probably benign 0.00
R0883:Or4k48 UTSW 2 111,476,136 (GRCm39) missense probably benign 0.00
R1563:Or4k48 UTSW 2 111,476,027 (GRCm39) missense probably damaging 1.00
R1567:Or4k48 UTSW 2 111,476,271 (GRCm39) missense possibly damaging 0.92
R1740:Or4k48 UTSW 2 111,476,214 (GRCm39) missense probably damaging 0.97
R2142:Or4k48 UTSW 2 111,475,566 (GRCm39) missense probably benign 0.04
R3949:Or4k48 UTSW 2 111,475,871 (GRCm39) missense possibly damaging 0.67
R4766:Or4k48 UTSW 2 111,476,226 (GRCm39) missense probably benign
R4924:Or4k48 UTSW 2 111,476,121 (GRCm39) missense possibly damaging 0.87
R7320:Or4k48 UTSW 2 111,476,297 (GRCm39) missense probably benign 0.03
R7695:Or4k48 UTSW 2 111,475,970 (GRCm39) missense probably damaging 1.00
R8549:Or4k48 UTSW 2 111,479,512 (GRCm39) start gained probably benign
R8958:Or4k48 UTSW 2 111,476,070 (GRCm39) missense possibly damaging 0.93
R9444:Or4k48 UTSW 2 111,476,132 (GRCm39) missense probably damaging 1.00
R9744:Or4k48 UTSW 2 111,475,664 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCAAAGGAAATGGTCTTGTTTTCG -3'
(R):5'- CAGGTGAGTTCTAATATGGATGCC -3'

Sequencing Primer
(F):5'- AATCTATGATCATCTTAGGAGTGGTG -3'
(R):5'- TGGATGCCTAATTTTACAAACGAAG -3'
Posted On 2020-09-15