Incidental Mutation 'R1567:Or4k48'
ID 175325
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 039606-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R1567 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 111475402-111476340 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 111476271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 24 (Q24K)
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: Q24K

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099610
Gene: ENSMUSG00000096853
AA Change: Q24K

DomainStartEndE-ValueType
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: Q24K

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208284
AA Change: Q24K

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.0%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 G A 7: 120,030,352 (GRCm39) V155I probably benign Het
Actrt2 T C 4: 154,751,371 (GRCm39) Q255R possibly damaging Het
Adar A T 3: 89,643,088 (GRCm39) H323L probably benign Het
Adgrg5 T A 8: 95,664,326 (GRCm39) V312E probably damaging Het
Anapc1 T C 2: 128,459,636 (GRCm39) T1808A probably damaging Het
Aox3 C A 1: 58,233,852 (GRCm39) A1285E probably damaging Het
Arhgap40 T A 2: 158,388,719 (GRCm39) L551Q probably damaging Het
Blk A G 14: 63,618,178 (GRCm39) S243P probably damaging Het
Cfap206 G T 4: 34,716,490 (GRCm39) A325E probably benign Het
Cimap1b C A 15: 89,261,981 (GRCm39) R137L probably benign Het
Cnn3 A T 3: 121,243,607 (GRCm39) K23* probably null Het
Cog8 G A 8: 107,780,740 (GRCm39) R173* probably null Het
Col11a1 G A 3: 113,932,261 (GRCm39) R880H unknown Het
Cyp2c40 T C 19: 39,792,215 (GRCm39) Q243R probably null Het
Dcbld1 A G 10: 52,195,752 (GRCm39) E391G probably damaging Het
Dchs1 C A 7: 105,421,068 (GRCm39) A451S probably benign Het
Ddx43 A G 9: 78,323,991 (GRCm39) K441E probably damaging Het
Depdc1a A T 3: 159,228,177 (GRCm39) I310F possibly damaging Het
Dnah17 C T 11: 118,016,811 (GRCm39) V247M probably damaging Het
Dtd1 G T 2: 144,588,945 (GRCm39) G201V probably damaging Het
Eif1ad3 A T 12: 87,843,754 (GRCm39) I134F unknown Het
Enoph1 G A 5: 100,208,884 (GRCm39) G80S probably benign Het
Fam76a A T 4: 132,645,039 (GRCm39) Y48* probably null Het
Fut9 T G 4: 25,620,344 (GRCm39) T157P probably damaging Het
Gm57859 T A 11: 113,578,728 (GRCm39) V41D probably damaging Het
Gtpbp1 T C 15: 79,596,391 (GRCm39) I310T probably damaging Het
Hk3 T A 13: 55,154,418 (GRCm39) I753F probably damaging Het
Hnrnpl G T 7: 28,519,608 (GRCm39) A419S possibly damaging Het
Ighv5-6 T C 12: 113,589,528 (GRCm39) probably benign Het
Itpkb A G 1: 180,249,423 (GRCm39) T933A probably benign Het
Kcnn2 T G 18: 45,803,401 (GRCm39) probably null Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Lmcd1 C T 6: 112,287,526 (GRCm39) R71C probably damaging Het
Mrgprb1 A T 7: 48,097,201 (GRCm39) V237E probably damaging Het
Mybl1 T A 1: 9,755,976 (GRCm39) E191V probably damaging Het
Nbas T A 12: 13,335,279 (GRCm39) F158I possibly damaging Het
Nbr1 C G 11: 101,466,037 (GRCm39) L748V probably damaging Het
Nlrp10 G A 7: 108,526,257 (GRCm39) T27M probably benign Het
Notch3 G A 17: 32,377,554 (GRCm39) T174I possibly damaging Het
Nup85 T A 11: 115,459,224 (GRCm39) I109K possibly damaging Het
Or10h28 A G 17: 33,488,450 (GRCm39) I251V probably benign Het
Or2b28 A T 13: 21,531,595 (GRCm39) I166L probably benign Het
Or2n1e A G 17: 38,586,459 (GRCm39) I266V possibly damaging Het
Or4c12b T C 2: 89,647,528 (GRCm39) L280P probably damaging Het
Or5b105 T C 19: 13,080,006 (GRCm39) T221A probably benign Het
Phf2 T C 13: 48,985,589 (GRCm39) K64E unknown Het
Polr2a T C 11: 69,636,857 (GRCm39) T365A probably benign Het
Prkcd A G 14: 30,329,405 (GRCm39) C12R probably benign Het
Ptprq T C 10: 107,401,748 (GRCm39) I1915V probably benign Het
Rcbtb2 G A 14: 73,399,902 (GRCm39) V112I probably benign Het
Rxfp3 A G 15: 11,036,187 (GRCm39) V395A probably benign Het
Ryr2 C A 13: 11,774,563 (GRCm39) G1198C possibly damaging Het
Scn1a T A 2: 66,103,675 (GRCm39) I1851F probably damaging Het
Selenop A G 15: 3,309,180 (GRCm39) *377W probably null Het
Sema4a A T 3: 88,359,353 (GRCm39) C113S probably damaging Het
Sf3b1 C G 1: 55,058,554 (GRCm39) E12Q possibly damaging Het
Speg T C 1: 75,404,691 (GRCm39) S2575P probably benign Het
Stk24 T A 14: 121,545,468 (GRCm39) I97L probably benign Het
Tap2 A G 17: 34,433,065 (GRCm39) K449R probably benign Het
Tecpr2 T A 12: 110,908,030 (GRCm39) probably null Het
Ttn T A 2: 76,727,955 (GRCm39) probably benign Het
Uggt2 A G 14: 119,246,505 (GRCm39) F1204L possibly damaging Het
Ugt2b36 T C 5: 87,240,258 (GRCm39) I42M probably damaging Het
Zdhhc8 A G 16: 18,044,984 (GRCm39) L274P probably benign Het
Zfp974 C A 7: 27,610,148 (GRCm39) D526Y 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
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
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'- GCAAAGGAAATGGTCTTGTTTTCGCT -3'
(R):5'- TCTTGCAAAGTTGCTCTTGACTCATGAA -3'

Sequencing Primer
(F):5'- GTCTTGTTTTCGCTGAGAAAATC -3'
(R):5'- CAGGTGAGTTCTAATATGGATGCC -3'
Posted On 2014-04-24