Incidental Mutation 'R2256:Or4k42'
ID 243329
Institutional Source Beutler Lab
Gene Symbol Or4k42
Ensembl Gene ENSMUSG00000095809
Gene Name olfactory receptor family 4 subfamily K member 42
Synonyms Olfr1290, MOR248-9, GA_x6K02T2Q125-72541649-72540711
MMRRC Submission 040256-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R2256 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 111319563-111324160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111320323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 60 (Y60C)
Ref Sequence ENSEMBL: ENSMUSP00000150388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099616] [ENSMUST00000208695] [ENSMUST00000208881] [ENSMUST00000217611]
AlphaFold Q7TQX8
Predicted Effect probably damaging
Transcript: ENSMUST00000099616
AA Change: Y60C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097211
Gene: ENSMUSG00000095809
AA Change: Y60C

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 3.5e-52 PFAM
Pfam:7tm_1 41 287 1e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207707
AA Change: Y60C
Predicted Effect probably damaging
Transcript: ENSMUST00000208695
AA Change: Y60C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000208881
AA Change: Y60C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217611
AA Change: Y60C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.3158 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 98% (97/99)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 9,008,431 (GRCm39) S1200P probably damaging Het
Acadsb A G 7: 131,045,382 (GRCm39) Y438C probably benign Het
Acp7 A C 7: 28,313,838 (GRCm39) W399G probably damaging Het
Actr3b A G 5: 26,027,403 (GRCm39) T113A possibly damaging Het
Adgrv1 T C 13: 81,654,259 (GRCm39) D2204G probably benign Het
Ago1 A G 4: 126,335,704 (GRCm39) V669A possibly damaging Het
Ang5 T A 14: 44,199,978 (GRCm39) L14Q probably null Het
Aoc1 T C 6: 48,883,374 (GRCm39) Y417H possibly damaging Het
Arhgap32 T C 9: 32,158,793 (GRCm39) I186T probably damaging Het
Atf2 A T 2: 73,675,855 (GRCm39) probably null Het
Atg4a A G X: 139,890,984 (GRCm39) I91V probably benign Het
Atp7b T G 8: 22,488,282 (GRCm39) T1102P probably damaging Het
Bend5 A C 4: 111,288,207 (GRCm39) probably benign Het
Camkk2 T C 5: 122,884,398 (GRCm39) D341G probably damaging Het
Cast T A 13: 74,888,024 (GRCm39) I208L probably damaging Het
Ccdc141 A T 2: 76,962,606 (GRCm39) W113R probably damaging Het
Cdk14 T A 5: 4,938,924 (GRCm39) M433L probably benign Het
Cel A G 2: 28,451,204 (GRCm39) F51S probably damaging Het
Cenpc1 A G 5: 86,164,062 (GRCm39) L853S probably damaging Het
Cep162 C A 9: 87,088,967 (GRCm39) D972Y probably damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Clasrp A G 7: 19,320,510 (GRCm39) probably benign Het
Cntnap5c T A 17: 58,637,310 (GRCm39) N1062K probably benign Het
Col3a1 A G 1: 45,360,792 (GRCm39) D74G unknown Het
Copb1 T A 7: 113,853,110 (GRCm39) D29V possibly damaging Het
Cox6a1 C T 5: 115,486,907 (GRCm39) E35K possibly damaging Het
Cyp2b9 G A 7: 25,873,030 (GRCm39) probably null Het
Ddx46 A G 13: 55,795,521 (GRCm39) K177E possibly damaging Het
Dmbt1 T C 7: 130,692,224 (GRCm39) F823L probably benign Het
Drc7 A T 8: 95,801,637 (GRCm39) H666L probably benign Het
Fam228a T C 12: 4,787,775 (GRCm39) probably benign Het
Fam83e A T 7: 45,378,193 (GRCm39) K406* probably null Het
Fam83e A T 7: 45,378,194 (GRCm39) K406M possibly damaging Het
Fam90a1a T A 8: 22,453,533 (GRCm39) L296Q possibly damaging Het
Fat1 A G 8: 45,403,408 (GRCm39) Y53C probably damaging Het
Fhdc1 T C 3: 84,353,353 (GRCm39) E624G probably benign Het
Fryl T A 5: 73,230,187 (GRCm39) N1657Y possibly damaging Het
Fsip2 T A 2: 82,793,095 (GRCm39) D417E probably benign Het
Garin5b T A 7: 4,774,020 (GRCm39) M31L probably benign Het
Greb1l A G 18: 10,503,307 (GRCm39) M453V possibly damaging Het
Gtf2b A G 3: 142,487,185 (GRCm39) D207G probably benign Het
Has3 C A 8: 107,600,888 (GRCm39) L117I probably damaging Het
Iqca1l C T 5: 24,757,038 (GRCm39) probably benign Het
Jmjd1c T A 10: 67,061,073 (GRCm39) I1142N probably damaging Het
Lipt2 C T 7: 99,808,601 (GRCm39) T38I probably benign Het
Magea2 A T X: 153,810,855 (GRCm39) L243Q probably damaging Het
Mast4 A T 13: 102,872,259 (GRCm39) C2178S possibly damaging Het
Mctp2 A G 7: 71,835,568 (GRCm39) L543P probably damaging Het
Mmut A T 17: 41,267,210 (GRCm39) I595F probably benign Het
Mphosph9 C T 5: 124,421,722 (GRCm39) V740I probably benign Het
Mtrex A T 13: 113,013,046 (GRCm39) M890K probably damaging Het
Myo1e G A 9: 70,285,655 (GRCm39) probably null Het
Nlrc4 A G 17: 74,752,625 (GRCm39) I586T probably damaging Het
Nom1 T A 5: 29,642,750 (GRCm39) V417D probably damaging Het
Nphs1 A T 7: 30,167,417 (GRCm39) I782F possibly damaging Het
Numa1 A G 7: 101,649,998 (GRCm39) E1243G probably damaging Het
Or4a81 T C 2: 89,618,814 (GRCm39) H294R probably benign Het
Or52e7 A G 7: 104,685,026 (GRCm39) Y207C probably benign Het
Or5g23 T A 2: 85,438,807 (GRCm39) Y149F possibly damaging Het
Or5p54 A T 7: 107,554,244 (GRCm39) Y132F probably damaging Het
Orai2 C T 5: 136,190,454 (GRCm39) V52I probably damaging Het
Osbpl5 A G 7: 143,262,831 (GRCm39) C186R probably damaging Het
Osbpl6 A G 2: 76,414,818 (GRCm39) E403G probably damaging Het
Padi4 G A 4: 140,487,251 (GRCm39) T217I possibly damaging Het
Parm1 C T 5: 91,741,980 (GRCm39) T116I possibly damaging Het
Pde4dip T A 3: 97,625,500 (GRCm39) Q1366L probably damaging Het
Phgdh T C 3: 98,235,607 (GRCm39) K108E probably benign Het
Pold1 T C 7: 44,183,223 (GRCm39) probably null Het
Ppp1r37 G T 7: 19,295,943 (GRCm39) probably benign Het
Sdk2 T C 11: 113,721,620 (GRCm39) N1332S probably benign Het
Sema6d A G 2: 124,506,070 (GRCm39) D626G probably damaging Het
Slc18b1 A G 10: 23,686,820 (GRCm39) N212S probably benign Het
Slc2a9 T C 5: 38,610,542 (GRCm39) T86A probably damaging Het
Slco1a6 A T 6: 142,036,742 (GRCm39) M555K probably benign Het
Sntg2 C T 12: 30,286,687 (GRCm39) W302* probably null Het
Spata22 T A 11: 73,231,301 (GRCm39) M185K possibly damaging Het
Stk35 T A 2: 129,652,427 (GRCm39) Y309* probably null Het
Taar8c A G 10: 23,976,969 (GRCm39) V281A probably benign Het
Thoc1 C A 18: 9,993,466 (GRCm39) D608E possibly damaging Het
Tmem121b A T 6: 120,469,030 (GRCm39) Y562* probably null Het
Tmem121b A G 6: 120,469,032 (GRCm39) Y562H probably damaging Het
Tmtc4 A T 14: 123,178,820 (GRCm39) I449N probably benign Het
Tmub1 C A 5: 24,651,922 (GRCm39) G14V possibly damaging Het
Tmub1 G A 5: 24,652,175 (GRCm39) probably benign Het
Tshz2 A G 2: 169,728,397 (GRCm39) T529A probably damaging Het
Ugdh A T 5: 65,574,458 (GRCm39) probably benign Het
Usp25 A G 16: 76,910,682 (GRCm39) K913E probably benign Het
Vgf A G 5: 137,060,401 (GRCm39) probably benign Het
Vmn2r19 T A 6: 123,306,845 (GRCm39) F451Y probably benign Het
Vmn2r59 A T 7: 41,661,669 (GRCm39) C715* probably null Het
Vps9d1 C A 8: 123,971,860 (GRCm39) A582S probably benign Het
Xbp1 T G 11: 5,474,841 (GRCm39) H247Q probably damaging Het
Zfp1008 A T 13: 62,755,210 (GRCm39) I36N probably benign Het
Zfp319 A T 8: 96,055,129 (GRCm39) M358K possibly damaging Het
Zfp438 A T 18: 5,213,508 (GRCm39) N483K probably damaging Het
Zfp518b T C 5: 38,828,979 (GRCm39) N1009D possibly damaging Het
Zfp644 A T 5: 106,783,711 (GRCm39) H945Q probably damaging Het
Zgrf1 T A 3: 127,355,646 (GRCm39) S291T probably benign Het
Other mutations in Or4k42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00958:Or4k42 APN 2 111,319,565 (GRCm39) makesense probably null
IGL01418:Or4k42 APN 2 111,319,984 (GRCm39) missense probably benign 0.37
IGL02288:Or4k42 APN 2 111,320,065 (GRCm39) missense probably benign 0.09
IGL02507:Or4k42 APN 2 111,319,768 (GRCm39) missense possibly damaging 0.87
IGL02508:Or4k42 APN 2 111,320,180 (GRCm39) missense probably damaging 1.00
IGL02951:Or4k42 APN 2 111,320,465 (GRCm39) missense probably benign 0.00
IGL03357:Or4k42 APN 2 111,320,289 (GRCm39) missense probably benign 0.01
R1101:Or4k42 UTSW 2 111,319,787 (GRCm39) missense probably damaging 1.00
R2420:Or4k42 UTSW 2 111,319,602 (GRCm39) splice site probably null
R4672:Or4k42 UTSW 2 111,319,902 (GRCm39) missense possibly damaging 0.66
R4715:Or4k42 UTSW 2 111,320,089 (GRCm39) missense probably benign
R4855:Or4k42 UTSW 2 111,320,293 (GRCm39) missense probably damaging 1.00
R6011:Or4k42 UTSW 2 111,320,192 (GRCm39) missense probably benign 0.03
R6141:Or4k42 UTSW 2 111,320,464 (GRCm39) missense probably benign 0.34
R6156:Or4k42 UTSW 2 111,320,095 (GRCm39) missense probably damaging 1.00
R6702:Or4k42 UTSW 2 111,320,454 (GRCm39) splice site probably null
R6703:Or4k42 UTSW 2 111,320,454 (GRCm39) splice site probably null
R7413:Or4k42 UTSW 2 111,319,933 (GRCm39) missense probably benign 0.18
R7861:Or4k42 UTSW 2 111,320,369 (GRCm39) missense probably damaging 0.99
R8007:Or4k42 UTSW 2 111,320,068 (GRCm39) missense probably damaging 1.00
R8914:Or4k42 UTSW 2 111,320,004 (GRCm39) missense probably damaging 1.00
R8947:Or4k42 UTSW 2 111,320,042 (GRCm39) missense probably benign 0.02
R9003:Or4k42 UTSW 2 111,320,411 (GRCm39) missense probably benign 0.11
R9396:Or4k42 UTSW 2 111,319,864 (GRCm39) missense probably benign 0.22
Z1176:Or4k42 UTSW 2 111,320,222 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCCACATAGCGATCATAAGC -3'
(R):5'- GGTTACTTCTGAAGACACACTGAG -3'

Sequencing Primer
(F):5'- TAGCGATCATAAGCCATTATCACC -3'
(R):5'- TTCTGAAGACACACTGAGTAAAATGG -3'
Posted On 2014-10-16