Incidental Mutation 'R1803:Or4k49'
ID 203258
Institutional Source Beutler Lab
Gene Symbol Or4k49
Ensembl Gene ENSMUSG00000109219
Gene Name olfactory receptor family 4 subfamily K member 49
Synonyms Olfr1299, GA_x6K02T2Q125-72715642-72716580, MOR248-8
MMRRC Submission 039833-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.170) question?
Stock # R1803 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 111491798-111495511 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 111495099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 176 (S176I)
Ref Sequence ENSEMBL: ENSMUSP00000149299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000207228] [ENSMUST00000208175] [ENSMUST00000213511]
AlphaFold Q7TQX5
Predicted Effect probably damaging
Transcript: ENSMUST00000099610
AA Change: S176I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097205
Gene: ENSMUSG00000074957
AA Change: S176I

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 1.4e-47 PFAM
Pfam:7tm_1 41 287 2.6e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207228
AA Change: S176I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000208175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208983
Predicted Effect probably damaging
Transcript: ENSMUST00000213511
AA Change: S176I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik A T 17: 79,935,095 (GRCm39) probably benign Het
Adgrl3 C T 5: 81,919,464 (GRCm39) R586* probably null Het
Arpp21 T C 9: 111,956,466 (GRCm39) T471A possibly damaging Het
Blnk T C 19: 40,940,821 (GRCm39) E194G probably damaging Het
Cd44 G A 2: 102,664,597 (GRCm39) P332S probably damaging Het
Cd47 T C 16: 49,688,169 (GRCm39) F30L possibly damaging Het
Cdh23 T C 10: 60,167,060 (GRCm39) E1861G probably damaging Het
Cdkal1 T A 13: 29,701,454 (GRCm39) M332L probably damaging Het
Cul9 A G 17: 46,814,023 (GRCm39) S2284P probably damaging Het
Cyp2a5 G T 7: 26,534,971 (GRCm39) probably null Het
Dcp2 T C 18: 44,528,984 (GRCm39) I33T probably damaging Het
Ddx52 A T 11: 83,836,958 (GRCm39) I150L probably damaging Het
Dennd5a T A 7: 109,497,820 (GRCm39) T1067S probably benign Het
Dnpep A T 1: 75,286,058 (GRCm39) L419* probably null Het
Dock8 A G 19: 25,109,599 (GRCm39) K927R probably benign Het
Dpy19l4 A T 4: 11,281,020 (GRCm39) V475E possibly damaging Het
Edf1 C T 2: 25,450,206 (GRCm39) S41F probably damaging Het
Elapor2 A G 5: 9,477,832 (GRCm39) H410R probably benign Het
Emilin1 C T 5: 31,075,082 (GRCm39) P441L possibly damaging Het
Epha3 T C 16: 63,422,651 (GRCm39) K579E probably benign Het
Exoc1 A G 5: 76,709,288 (GRCm39) N23S probably benign Het
Flt3 C A 5: 147,303,865 (GRCm39) E358* probably null Het
Fzd1 A T 5: 4,806,385 (GRCm39) I399K probably damaging Het
Gdi2 T A 13: 3,614,547 (GRCm39) Y333* probably null Het
Gm10479 A G 12: 20,483,654 (GRCm39) H91R probably benign Het
Gm10842 G A 11: 105,037,867 (GRCm39) R50K unknown Het
Grin2c A T 11: 115,151,558 (GRCm39) probably null Het
Grk2 C T 19: 4,344,911 (GRCm39) V53M probably damaging Het
H2-M10.2 C T 17: 36,596,763 (GRCm39) M104I probably benign Het
Hyou1 C T 9: 44,295,479 (GRCm39) Q290* probably null Het
Inka1 A G 9: 107,861,938 (GRCm39) V128A probably benign Het
Itgb2 T C 10: 77,400,624 (GRCm39) S746P probably benign Het
Jmjd7 C T 2: 119,860,589 (GRCm39) L39F probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klhl2 T C 8: 65,212,831 (GRCm39) E236G probably damaging Het
Krtap19-4 C A 16: 88,681,879 (GRCm39) G26C unknown Het
Krtap4-16 G A 11: 99,741,998 (GRCm39) T134I possibly damaging Het
Lamb2 A G 9: 108,365,298 (GRCm39) H1318R probably benign Het
Mab21l3 G A 3: 101,742,446 (GRCm39) T38M probably benign Het
Mfsd10 A T 5: 34,794,094 (GRCm39) D6E possibly damaging Het
Mnat1 G T 12: 73,226,007 (GRCm39) G91* probably null Het
Mns1 A T 9: 72,360,016 (GRCm39) I389F probably damaging Het
Morc1 A T 16: 48,443,001 (GRCm39) T829S probably benign Het
Morn5 T A 2: 35,943,089 (GRCm39) V63E probably benign Het
Mybpc1 T C 10: 88,389,157 (GRCm39) T404A possibly damaging Het
Npc1l1 A T 11: 6,178,846 (GRCm39) M188K probably damaging Het
Nrcam T A 12: 44,618,991 (GRCm39) M846K probably benign Het
Nup210 A C 6: 91,051,264 (GRCm39) F373C probably damaging Het
Or5b111 A T 19: 13,291,535 (GRCm39) V38E possibly damaging Het
Or7g18 T C 9: 18,787,376 (GRCm39) V248A probably damaging Het
Osbpl8 T C 10: 111,110,910 (GRCm39) S471P probably damaging Het
Plekhn1 A T 4: 156,306,838 (GRCm39) I517N probably benign Het
Plin4 G T 17: 56,411,931 (GRCm39) T700K probably damaging Het
Plxna4 A T 6: 32,494,379 (GRCm39) V79D probably damaging Het
Prdm16 A T 4: 154,419,718 (GRCm39) M897K probably damaging Het
Ptprg T A 14: 12,091,410 (GRCm38) probably null Het
Rcan2 G T 17: 44,347,924 (GRCm39) C211F probably damaging Het
Rigi A G 4: 40,224,013 (GRCm39) S289P probably benign Het
Rxfp1 C T 3: 79,645,076 (GRCm39) C9Y probably benign Het
Scn2a G A 2: 65,501,111 (GRCm39) probably null Het
Scnn1a A C 6: 125,309,157 (GRCm39) R264S probably damaging Het
Sema4g T C 19: 44,986,459 (GRCm39) V345A probably benign Het
Sgo2b T A 8: 64,380,426 (GRCm39) D802V probably benign Het
Slc25a21 G A 12: 56,904,872 (GRCm39) T54I probably benign Het
Slc25a46 C T 18: 31,727,641 (GRCm39) E223K probably damaging Het
Slc25a54 A G 3: 109,010,013 (GRCm39) I171V probably benign Het
Slc7a6 T C 8: 106,919,088 (GRCm39) V224A possibly damaging Het
Smchd1 A T 17: 71,694,001 (GRCm39) V1248E probably damaging Het
Sort1 C A 3: 108,233,015 (GRCm39) F196L probably damaging Het
Sptbn4 G A 7: 27,118,008 (GRCm39) T357M probably damaging Het
Srrm3 T A 5: 135,885,983 (GRCm39) W308R probably damaging Het
Stard9 A T 2: 120,531,970 (GRCm39) E2742D probably benign Het
Tas1r1 T A 4: 152,116,705 (GRCm39) I310F probably damaging Het
Tas1r3 G A 4: 155,944,927 (GRCm39) R765C probably damaging Het
Tff1 A T 17: 31,380,560 (GRCm39) C85* probably null Het
Tlr11 C T 14: 50,598,104 (GRCm39) T30I probably benign Het
Trio T C 15: 27,748,426 (GRCm39) T1265A probably benign Het
Ttc7b T C 12: 100,373,261 (GRCm39) M338V possibly damaging Het
Umod T A 7: 119,063,947 (GRCm39) S620C probably damaging Het
Ust C A 10: 8,173,819 (GRCm39) probably null Het
Vmn1r176 A T 7: 23,534,609 (GRCm39) S181R probably damaging Het
Vmn1r202 T C 13: 22,686,313 (GRCm39) T35A probably benign Het
Vmn1r39 C A 6: 66,781,895 (GRCm39) R104L probably benign Het
Vps13b T A 15: 35,430,351 (GRCm39) Y286* probably null Het
Zfp579 G A 7: 4,996,769 (GRCm39) R381C probably damaging Het
Zfp85 A G 13: 67,899,747 (GRCm39) S71P probably benign Het
Zfyve16 A T 13: 92,640,593 (GRCm39) V1254E probably damaging Het
Other mutations in Or4k49
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Or4k49 APN 2 111,495,489 (GRCm39) missense probably benign 0.00
IGL02090:Or4k49 APN 2 111,495,333 (GRCm39) missense probably damaging 0.99
IGL02213:Or4k49 APN 2 111,495,020 (GRCm39) missense probably benign 0.05
R0603:Or4k49 UTSW 2 111,495,225 (GRCm39) missense probably damaging 1.00
R1598:Or4k49 UTSW 2 111,495,099 (GRCm39) missense probably damaging 1.00
R1802:Or4k49 UTSW 2 111,495,099 (GRCm39) missense probably damaging 1.00
R1885:Or4k49 UTSW 2 111,495,099 (GRCm39) missense probably damaging 1.00
R1887:Or4k49 UTSW 2 111,495,099 (GRCm39) missense probably damaging 1.00
R1962:Or4k49 UTSW 2 111,495,234 (GRCm39) missense probably damaging 1.00
R2024:Or4k49 UTSW 2 111,495,168 (GRCm39) missense possibly damaging 0.53
R2438:Or4k49 UTSW 2 111,495,096 (GRCm39) missense probably damaging 1.00
R5132:Or4k49 UTSW 2 111,495,344 (GRCm39) missense probably damaging 1.00
R5938:Or4k49 UTSW 2 111,494,708 (GRCm39) missense probably benign
R6115:Or4k49 UTSW 2 111,494,987 (GRCm39) nonsense probably null
R6336:Or4k49 UTSW 2 111,494,964 (GRCm39) missense possibly damaging 0.81
R6418:Or4k49 UTSW 2 111,494,817 (GRCm39) missense probably benign 0.00
R7196:Or4k49 UTSW 2 111,495,042 (GRCm39) missense probably damaging 0.97
R7539:Or4k49 UTSW 2 111,494,778 (GRCm39) missense possibly damaging 0.83
R8262:Or4k49 UTSW 2 111,494,587 (GRCm39) missense possibly damaging 0.89
R8331:Or4k49 UTSW 2 111,494,727 (GRCm39) missense possibly damaging 0.95
R9765:Or4k49 UTSW 2 111,495,230 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- ATGACCGCTATGTGGCCATC -3'
(R):5'- GTGATGTTGAGGGGCCAAAC -3'

Sequencing Primer
(F):5'- GCTATGTGGCCATCTGTAAAC -3'
(R):5'- TGGACAGGGCCTTAGATGC -3'
Posted On 2014-06-23