Incidental Mutation 'R4924:Or4k48'
ID 378844
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 042526-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R4924 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 111475402-111476340 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111476121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 74 (S74T)
Ref Sequence ENSEMBL: ENSMUSP00000146343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119566] [ENSMUST00000208284]
AlphaFold Q8VGE6
Predicted Effect possibly damaging
Transcript: ENSMUST00000090322
AA Change: S74T

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099610
Gene: ENSMUSG00000096853
AA Change: S74T

Pfam:7tm_4 31 305 6.7e-48 PFAM
Pfam:7tm_1 41 287 1.9e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000119566
AA Change: S74T

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208284
AA Change: S74T

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.6%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk G A 11: 119,902,351 (GRCm39) H625Y probably damaging Het
Adamts4 C T 1: 171,086,643 (GRCm39) R812W probably damaging Het
Ajuba A C 14: 54,809,056 (GRCm39) probably null Het
Aox1 T A 1: 58,344,503 (GRCm39) V532D probably damaging Het
Arpc1b G A 5: 145,063,625 (GRCm39) S295N probably benign Het
Baiap2 A G 11: 119,887,850 (GRCm39) S335G probably damaging Het
Brap T G 5: 121,803,318 (GRCm39) N155K probably damaging Het
Btn1a1 A G 13: 23,648,396 (GRCm39) probably benign Het
Ccl12 G A 11: 81,993,475 (GRCm39) V38I probably benign Het
Cemip T C 7: 83,602,146 (GRCm39) Y881C probably damaging Het
Cep128 T C 12: 90,989,174 (GRCm39) silent Het
Chd5 A C 4: 152,450,886 (GRCm39) D670A possibly damaging Het
Cmip T C 8: 117,983,994 (GRCm39) Y52H probably benign Het
Dmtn A G 14: 70,855,399 (GRCm39) I30T probably benign Het
Dscaml1 T A 9: 45,656,487 (GRCm39) M1609K probably damaging Het
Edar C A 10: 58,465,197 (GRCm39) E55D probably damaging Het
Ehmt1 A T 2: 24,729,734 (GRCm39) I601N probably damaging Het
Fam120a A T 13: 49,055,572 (GRCm39) N705K probably benign Het
Gm21718 G T 14: 51,550,292 (GRCm39) noncoding transcript Het
Gnaz A G 10: 74,827,545 (GRCm39) D99G probably benign Het
Helz G A 11: 107,493,165 (GRCm39) G196D probably damaging Het
Hif1a T C 12: 73,986,331 (GRCm39) S341P probably damaging Het
Hivep1 G T 13: 42,311,792 (GRCm39) S1344I probably benign Het
Hspa1l T A 17: 35,196,832 (GRCm39) Y290* probably null Het
Ift81 A G 5: 122,732,679 (GRCm39) L285S possibly damaging Het
Inpp4b T A 8: 82,849,253 (GRCm39) N891K probably damaging Het
Irx6 C T 8: 93,404,981 (GRCm39) T283M probably benign Het
Kdm5b A G 1: 134,559,089 (GRCm39) K1538E probably benign Het
Kif13a A G 13: 47,083,075 (GRCm39) V8A probably damaging Het
Krtap15-1 T A 16: 88,626,036 (GRCm39) N34K probably damaging Het
Lama2 T G 10: 27,245,137 (GRCm39) I215L probably damaging Het
Ldlrad3 C T 2: 101,900,328 (GRCm39) R58H possibly damaging Het
Lvrn C T 18: 47,027,792 (GRCm39) P869L probably damaging Het
Myo1d A G 11: 80,565,504 (GRCm39) F411S probably damaging Het
Myo5b T A 18: 74,828,455 (GRCm39) H702Q probably benign Het
Nat8f4 G T 6: 85,878,401 (GRCm39) Q41K probably benign Het
Nckap5 C A 1: 125,954,765 (GRCm39) E596* probably null Het
Nek10 T A 14: 14,846,594 (GRCm38) probably null Het
Notch3 T C 17: 32,363,705 (GRCm39) Y1145C probably damaging Het
Nr4a2 A T 2: 57,002,035 (GRCm39) H76Q probably benign Het
Nup98 T C 7: 101,784,185 (GRCm39) Q1049R probably damaging Het
Or5k1b T A 16: 58,580,982 (GRCm39) R186* probably null Het
Or8k33 A T 2: 86,383,853 (GRCm39) F205Y probably damaging Het
Pepd T C 7: 34,720,409 (GRCm39) Y231H probably benign Het
Plagl1 G T 10: 13,003,301 (GRCm39) A190S possibly damaging Het
Plat T A 8: 23,268,269 (GRCm39) I345N probably damaging Het
Pnmt A G 11: 98,278,286 (GRCm39) E120G probably damaging Het
Prkrip1 C A 5: 136,227,797 (GRCm39) probably null Het
Pygm G A 19: 6,443,754 (GRCm39) A572T probably damaging Het
Rbm4b T C 19: 4,807,400 (GRCm39) F39L probably damaging Het
Rpe65 A G 3: 159,328,268 (GRCm39) H388R probably benign Het
Scn4a G T 11: 106,210,914 (GRCm39) A1701E possibly damaging Het
Sdk2 C A 11: 113,748,584 (GRCm39) W616L probably damaging Het
Serpina3m T A 12: 104,357,729 (GRCm39) S218T probably benign Het
Siglece C T 7: 43,309,297 (GRCm39) R87H probably damaging Het
Sim1 C A 10: 50,785,998 (GRCm39) L284M probably damaging Het
Smok3c G T 5: 138,063,844 (GRCm39) E444* probably null Het
Snx4 T C 16: 33,115,100 (GRCm39) V427A probably benign Het
Srp68 A T 11: 116,151,684 (GRCm39) V304E probably damaging Het
Stag1 A T 9: 100,678,808 (GRCm39) H243L possibly damaging Het
Stx6 T C 1: 155,049,737 (GRCm39) V14A probably damaging Het
Sv2b T A 7: 74,786,169 (GRCm39) Y417F probably benign Het
Tas2r103 A G 6: 133,013,161 (GRCm39) Y302H probably benign Het
Thop1 T C 10: 80,916,028 (GRCm39) S404P probably benign Het
Trp53bp1 G T 2: 121,051,701 (GRCm39) C988* probably null Het
Tsbp1 C T 17: 34,678,951 (GRCm39) P221L probably damaging Het
Ube3c A G 5: 29,836,269 (GRCm39) E630G possibly damaging Het
Usf3 T C 16: 44,037,718 (GRCm39) S733P probably benign Het
Vmn1r195 A G 13: 22,463,189 (GRCm39) T220A probably benign Het
Vmn1r201 A T 13: 22,658,882 (GRCm39) H32L probably benign Het
Wnt2 A G 6: 18,023,239 (GRCm39) C137R probably damaging Het
Ythdc2 T C 18: 44,980,871 (GRCm39) S489P probably damaging Het
Zfp248 A G 6: 118,406,033 (GRCm39) C418R probably damaging Het
Zfp946 T G 17: 22,674,502 (GRCm39) F419V probably damaging Het
Zfp994 C T 17: 22,419,738 (GRCm39) E404K probably damaging Het
Zfpm1 T C 8: 123,061,347 (GRCm39) V304A possibly 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
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
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

Sequencing Primer
Posted On 2016-04-15