Incidental Mutation 'R0701:Or4k48'
ID 62998
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 038884-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # R0701 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 111475402-111476340 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 111476136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 69 (V69I)
Ref Sequence ENSEMBL: ENSMUSP00000146343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119566] [ENSMUST00000208284]
AlphaFold Q8VGE6
Predicted Effect probably benign
Transcript: ENSMUST00000090322
AA Change: V69I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099610
Gene: ENSMUSG00000096853
AA Change: V69I

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 6.7e-48 PFAM
Pfam:7tm_1 41 287 1.9e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119566
AA Change: V69I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000208284
AA Change: V69I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 91.3%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada A G 2: 163,571,995 (GRCm39) V261A probably benign Het
Arhgef10 T A 8: 15,012,636 (GRCm39) V320E probably damaging Het
Arhgef11 G T 3: 87,640,766 (GRCm39) A1308S probably benign Het
Bach1 G A 16: 87,516,877 (GRCm39) E473K probably damaging Het
Bsph1 G T 7: 13,206,181 (GRCm39) C72F probably damaging Het
C2cd2l A G 9: 44,227,499 (GRCm39) L186P probably damaging Het
C9 A C 15: 6,496,902 (GRCm39) T200P probably damaging Het
Cald1 AAGAGAGAGAGAGAG AAGAGAGAGAGAG 6: 34,723,108 (GRCm39) probably null Het
Chd1 C A 17: 15,945,693 (GRCm39) N72K probably benign Het
Copg1 T A 6: 87,871,089 (GRCm39) Y268* probably null Het
Csad A G 15: 102,087,571 (GRCm39) S331P probably benign Het
Ddx31 G T 2: 28,748,789 (GRCm39) R239L probably null Het
Fat1 G T 8: 45,479,590 (GRCm39) A2879S probably benign Het
Fig4 T A 10: 41,116,508 (GRCm39) R628* probably null Het
Fmnl3 T C 15: 99,219,188 (GRCm39) N778S probably damaging Het
Gm10912 T C 2: 103,896,875 (GRCm39) S5P probably benign Het
Haus3 G A 5: 34,323,359 (GRCm39) T417M probably benign Het
Herc1 T G 9: 66,395,232 (GRCm39) V4189G probably damaging Het
Hoxb3 C A 11: 96,237,074 (GRCm39) S384* probably null Het
Ifnar2 A G 16: 91,201,117 (GRCm39) T453A possibly damaging Het
Ift140 A G 17: 25,309,907 (GRCm39) T1105A probably benign Het
Kmt2e T C 5: 23,678,581 (GRCm39) V220A probably benign Het
Lrriq1 A T 10: 103,069,905 (GRCm39) V37E probably benign Het
Lrrn4 G A 2: 132,712,080 (GRCm39) T581M probably benign Het
Mcur1 T C 13: 43,699,216 (GRCm39) Y267C probably damaging Het
Mdn1 T A 4: 32,699,263 (GRCm39) D1313E probably benign Het
Med13 T A 11: 86,197,864 (GRCm39) T736S probably benign Het
Mlh3 A T 12: 85,314,677 (GRCm39) I503K probably benign Het
Nckap5 A G 1: 125,953,094 (GRCm39) F1089L probably benign Het
Or1e35 A T 11: 73,797,655 (GRCm39) I221N probably damaging Het
Or4c10 A G 2: 89,760,545 (GRCm39) T131A probably benign Het
Pdgfd A T 9: 6,359,706 (GRCm39) D259V probably damaging Het
Pramel22 C T 4: 143,383,010 (GRCm39) E70K possibly damaging Het
R3hdm1 A G 1: 128,109,476 (GRCm39) Y309C probably damaging Het
Rab27b A T 18: 70,118,270 (GRCm39) C216S probably damaging Het
Robo2 A G 16: 73,843,762 (GRCm39) I151T probably damaging Het
Sh2d4a A G 8: 68,783,747 (GRCm39) D227G probably damaging Het
Sis G T 3: 72,848,378 (GRCm39) T632K probably damaging Het
Smcr8 T C 11: 60,668,941 (GRCm39) Y30H probably damaging Het
Stap1 T C 5: 86,242,667 (GRCm39) probably null Het
Syt16 G A 12: 74,281,886 (GRCm39) V337I probably benign Het
Taf1c A T 8: 120,326,722 (GRCm39) I438N probably damaging Het
Ttn A G 2: 76,728,412 (GRCm39) probably benign Het
Unc45b T A 11: 82,831,031 (GRCm39) L797Q possibly damaging Het
Usp6nl A G 2: 6,419,829 (GRCm39) E144G possibly damaging Het
Wiz A T 17: 32,575,415 (GRCm39) I907N probably damaging Het
Zap70 G A 1: 36,820,258 (GRCm39) R513Q probably damaging 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
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
R7961:Or4k48 UTSW 2 111,476,282 (GRCm39) missense probably damaging 0.97
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'- GCCACATAGCGGTCATAAGCCA -3'
(R):5'- AAGTTGCTCTTGACTCATGAATTTCCCT -3'

Sequencing Primer
(F):5'- TAGCGGTCATAAGCCATTACC -3'
(R):5'- CAGGTGAGTTCTAATATGGATGCC -3'
Posted On 2013-07-30