Incidental Mutation 'IGL02508:Or4k42'
ID 296425
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4k42
Ensembl Gene ENSMUSG00000095809
Gene Name olfactory receptor family 4 subfamily K member 42
Synonyms Olfr1290, MOR248-9, GA_x6K02T2Q125-72541649-72540711
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # IGL02508
Quality Score
Status
Chromosome 2
Chromosomal Location 111319563-111324160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 111320180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 108 (A108T)
Ref Sequence ENSEMBL: ENSMUSP00000146756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099616] [ENSMUST00000208695] [ENSMUST00000208881] [ENSMUST00000217611]
AlphaFold Q7TQX8
Predicted Effect probably damaging
Transcript: ENSMUST00000099616
AA Change: A108T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097211
Gene: ENSMUSG00000095809
AA Change: A108T

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: A108T
Predicted Effect probably benign
Transcript: ENSMUST00000208695
Predicted Effect probably damaging
Transcript: ENSMUST00000208881
AA Change: A108T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000217611
AA Change: A108T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Coding Region Coverage
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061I17Rik T A 3: 116,870,764 (GRCm39) noncoding transcript Het
Adgrv1 A T 13: 81,583,675 (GRCm39) probably benign Het
AI429214 T G 8: 37,461,240 (GRCm39) D129E probably benign Het
Alx1 G A 10: 102,858,054 (GRCm39) T215M probably damaging Het
Arhgap39 A G 15: 76,609,184 (GRCm39) *1079Q probably null Het
Brca2 T C 5: 150,466,773 (GRCm39) V2179A possibly damaging Het
Cdcp3 A G 7: 130,824,559 (GRCm39) E91G probably damaging Het
Celsr1 G A 15: 85,914,818 (GRCm39) Q1052* probably null Het
Chd5 A G 4: 152,447,481 (GRCm39) E510G probably damaging Het
Cntnap2 A G 6: 46,211,254 (GRCm39) D556G probably damaging Het
Cux2 G A 5: 121,998,885 (GRCm39) P1352S possibly damaging Het
Cyp4a31 A T 4: 115,428,261 (GRCm39) Y319F probably damaging Het
Dcaf12 C T 4: 41,296,310 (GRCm39) probably null Het
Dcc C A 18: 71,503,773 (GRCm39) A942S probably benign Het
Dyrk1a A T 16: 94,486,042 (GRCm39) D463V probably damaging Het
Eln T A 5: 134,733,422 (GRCm39) probably benign Het
Fbxl13 A G 5: 21,761,803 (GRCm39) probably null Het
Fndc3b T C 3: 27,512,900 (GRCm39) Y742C probably damaging Het
Furin G A 7: 80,042,269 (GRCm39) T442I probably benign Het
Gli1 T C 10: 127,172,961 (GRCm39) Q155R probably benign Het
Glra3 A G 8: 56,538,179 (GRCm39) E218G probably benign Het
Grb10 C T 11: 11,896,767 (GRCm39) V236M probably damaging Het
Grhl2 T C 15: 37,310,009 (GRCm39) probably benign Het
Hgfac A T 5: 35,204,564 (GRCm39) M579L probably damaging Het
Ifi202b A T 1: 173,802,338 (GRCm39) D165E probably benign Het
Klhl26 A T 8: 70,905,381 (GRCm39) D95E probably damaging Het
Klk12 T C 7: 43,419,113 (GRCm39) V26A probably benign Het
Lrp2 C T 2: 69,333,774 (GRCm39) G1489D probably benign Het
Lrrtm1 A T 6: 77,221,574 (GRCm39) S344C probably damaging Het
Lzts1 G A 8: 69,593,500 (GRCm39) R36* probably null Het
Mapkap1 T C 2: 34,408,681 (GRCm39) probably benign Het
Meis3 T A 7: 15,912,722 (GRCm39) probably null Het
Mtmr14 T A 6: 113,217,267 (GRCm39) C60S probably damaging Het
Nfkb1 T A 3: 135,296,579 (GRCm39) Y789F probably damaging Het
Nup54 G A 5: 92,565,398 (GRCm39) Q440* probably null Het
Ogdhl T G 14: 32,067,131 (GRCm39) M861R probably damaging Het
Or13c7b T C 4: 43,821,289 (GRCm39) E24G possibly damaging Het
Or4d10 G T 19: 12,051,251 (GRCm39) H248Q possibly damaging Het
Or52w1 A T 7: 105,017,743 (GRCm39) H61L possibly damaging Het
Or6c69b A G 10: 129,626,660 (GRCm39) V266A probably benign Het
Pde6c A G 19: 38,145,948 (GRCm39) K412R probably benign Het
Pex5l T C 3: 33,047,051 (GRCm39) probably benign Het
Pigr A T 1: 130,778,595 (GRCm39) I760L probably benign Het
Pramel28 T C 4: 143,691,590 (GRCm39) N378D probably benign Het
Prr14l G A 5: 32,988,286 (GRCm39) A403V probably benign Het
Prrt3 T C 6: 113,471,268 (GRCm39) D968G probably damaging Het
Psmc5 T C 11: 106,153,869 (GRCm39) I401T possibly damaging Het
Ralyl T A 3: 14,172,332 (GRCm39) probably benign Het
Samd9l T C 6: 3,374,798 (GRCm39) E821G probably damaging Het
Serpinb3a T A 1: 106,973,802 (GRCm39) I370F probably damaging Het
Setd1a A G 7: 127,396,870 (GRCm39) probably benign Het
Slco2a1 T A 9: 102,951,615 (GRCm39) F381L probably benign Het
Strada A G 11: 106,059,182 (GRCm39) Y199H probably benign Het
Stxbp2 T C 8: 3,682,531 (GRCm39) I40T probably damaging Het
Tbx3 T C 5: 119,816,877 (GRCm39) V358A possibly damaging Het
Tenm3 A G 8: 48,752,674 (GRCm39) L896S probably benign Het
Tmem132a A G 19: 10,835,882 (GRCm39) S883P probably damaging Het
Trio A G 15: 27,818,190 (GRCm39) I496T possibly damaging Het
Unc79 C T 12: 103,078,535 (GRCm39) R1548W probably damaging Het
Unc79 T C 12: 103,078,277 (GRCm39) probably benign Het
Vmn2r9 T C 5: 108,996,067 (GRCm39) M194V possibly 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
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
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
Posted On 2015-04-16