Incidental Mutation 'R9003:Or4k42'
ID 685070
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 068833-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R9003 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 111319563-111324160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111320411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 31 (F31L)
Ref Sequence ENSEMBL: ENSMUSP00000150388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099616] [ENSMUST00000208695] [ENSMUST00000208881] [ENSMUST00000217611]
AlphaFold Q7TQX8
Predicted Effect probably benign
Transcript: ENSMUST00000099616
AA Change: F31L

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000097211
Gene: ENSMUSG00000095809
AA Change: F31L

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 3.5e-52 PFAM
Pfam:7tm_1 41 287 1e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208695
AA Change: F31L

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000208881
AA Change: F31L

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000217611
AA Change: F31L

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (57/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,850,013 (GRCm39) H917Y possibly damaging Het
Acot4 A G 12: 84,089,969 (GRCm39) K222R possibly damaging Het
Akap12 A G 10: 4,306,744 (GRCm39) S1290G probably benign Het
Arid1a T C 4: 133,411,799 (GRCm39) I1311V unknown Het
Asf1b G T 8: 84,682,530 (GRCm39) E25* probably null Het
Atp10a T A 7: 58,457,203 (GRCm39) W901R probably damaging Het
Aurkc T A 7: 6,999,547 (GRCm39) I18N probably damaging Het
Carmil2 A G 8: 106,423,905 (GRCm39) T1253A probably damaging Het
Ccdc146 T C 5: 21,508,132 (GRCm39) T639A possibly damaging Het
Cdca4 A G 12: 112,785,659 (GRCm39) V23A probably benign Het
Chpt1 A G 10: 88,312,943 (GRCm39) F290L probably damaging Het
Clca3b C T 3: 144,533,072 (GRCm39) W653* probably null Het
Coa8 A G 12: 111,688,189 (GRCm39) *45W probably null Het
Cpb2 A T 14: 75,479,868 (GRCm39) probably benign Het
Cul9 A G 17: 46,836,001 (GRCm39) V1215A possibly damaging Het
Cxxc4 A T 3: 133,945,431 (GRCm39) N4I unknown Het
Eps8l1 G T 7: 4,464,016 (GRCm39) V47F possibly damaging Het
Exoc6 T C 19: 37,587,097 (GRCm39) I537T probably damaging Het
Fbn2 T C 18: 58,176,591 (GRCm39) Y2040C probably damaging Het
Gfm2 T G 13: 97,282,889 (GRCm39) probably benign Het
Jak2 A T 19: 29,254,240 (GRCm39) M187L probably benign Het
Kif5b A G 18: 6,224,047 (GRCm39) V247A probably benign Het
Klhl22 T C 16: 17,589,612 (GRCm39) V91A probably damaging Het
Ldhd T C 8: 112,356,894 (GRCm39) S17G probably benign Het
Madd C A 2: 90,988,359 (GRCm39) E1223* probably null Het
Mecom T C 3: 30,034,639 (GRCm39) I346V probably benign Het
Mthfd1 C T 12: 76,350,754 (GRCm39) T712M probably benign Het
Nek4 C T 14: 30,704,471 (GRCm39) T662M probably benign Het
Or10g3b T A 14: 52,586,768 (GRCm39) H245L probably damaging Het
Or2y1b C T 11: 49,209,155 (GRCm39) P261S possibly damaging Het
Or4c117 T A 2: 88,956,024 (GRCm39) Q17L possibly damaging Het
Or5ac19 A T 16: 59,089,263 (GRCm39) F256I probably benign Het
Or8c18 C T 9: 38,203,343 (GRCm39) T34I probably benign Het
Phc3 G A 3: 31,020,007 (GRCm39) T19I possibly damaging Het
Pla2g4e T A 2: 120,007,282 (GRCm39) Q472L probably benign Het
Plcg2 C T 8: 118,342,002 (GRCm39) T1121I Het
Plin2 T C 4: 86,580,324 (GRCm39) T146A probably benign Het
Pum1 T G 4: 130,474,393 (GRCm39) S488A probably benign Het
Robo1 A G 16: 72,539,002 (GRCm39) probably benign Het
Rsbn1 T C 3: 103,822,188 (GRCm39) L102P probably damaging Het
Sbno2 A T 10: 79,896,049 (GRCm39) V939E probably damaging Het
Scarf1 A T 11: 75,406,069 (GRCm39) T118S possibly damaging Het
Sdcbp2 G A 2: 151,429,113 (GRCm39) V171M probably benign Het
Sh3pxd2b T C 11: 32,361,571 (GRCm39) I261T probably damaging Het
Slc4a9 A G 18: 36,673,787 (GRCm39) probably null Het
Smpdl3a A G 10: 57,683,977 (GRCm39) Y245C probably damaging Het
Stk39 T C 2: 68,222,462 (GRCm39) I201V probably damaging Het
Timm44 A G 8: 4,324,204 (GRCm39) L25P possibly damaging Het
Tinf2 T C 14: 55,917,859 (GRCm39) H210R probably benign Het
Tmem168 A T 6: 13,591,446 (GRCm39) Y457N probably benign Het
Topbp1 T C 9: 103,200,727 (GRCm39) S587P probably benign Het
Tpp1 T A 7: 105,398,156 (GRCm39) I336F probably benign Het
Ttc28 G A 5: 111,424,896 (GRCm39) V1574I probably benign Het
Tut4 A G 4: 108,400,029 (GRCm39) K1277E probably damaging Het
Vmn2r52 A T 7: 9,905,181 (GRCm39) D219E probably benign Het
Zbtb40 G T 4: 136,745,904 (GRCm39) A43E probably damaging Het
Zfp970 G A 2: 177,167,010 (GRCm39) A195T probably damaging 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
R2256:Or4k42 UTSW 2 111,320,323 (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
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'- GCATCCTGCAAAGGAAATGG -3'
(R):5'- AAGTAGCCTCCCTCATACCTCTAG -3'

Sequencing Primer
(F):5'- CATCCTGCAAAGGAAATGGTCTTG -3'
(R):5'- ATTTCCAGTGCTATCCCAAAAGTC -3'
Posted On 2021-10-11