Incidental Mutation 'IGL02505:Or7a42'
ID 296239
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or7a42
Ensembl Gene ENSMUSG00000094080
Gene Name olfactory receptor family 7 subfamily A member 42
Synonyms GA_x6K02T2QGN0-2857086-2856154, MOR139-5P, Olfr8
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # IGL02505
Quality Score
Status
Chromosome 10
Chromosomal Location 78791041-78791973 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 78791767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 243 (V243F)
Ref Sequence ENSEMBL: ENSMUSP00000148856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081571] [ENSMUST00000203851] [ENSMUST00000214952]
AlphaFold Q60892
Predicted Effect probably benign
Transcript: ENSMUST00000081571
AA Change: V243F

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000080282
Gene: ENSMUSG00000094080
AA Change: V243F

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 1.3e-47 PFAM
Pfam:7tm_1 42 291 3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203851
AA Change: V243F

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000144916
Gene: ENSMUSG00000094080
AA Change: V243F

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 1.3e-47 PFAM
Pfam:7tm_1 42 291 3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214952
AA Change: V243F

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216819
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab C A 9: 63,524,096 (GRCm39) L68M probably damaging Het
Abca13 T G 11: 9,531,498 (GRCm39) L4575W probably damaging Het
Abcb11 A T 2: 69,076,105 (GRCm39) V1201D probably damaging Het
Aldoa G T 7: 126,395,166 (GRCm39) A252E probably damaging Het
Ap1b1 C T 11: 4,981,700 (GRCm39) A536V probably benign Het
Arhgef3 A G 14: 27,115,957 (GRCm39) H233R possibly damaging Het
Arhgef40 A T 14: 52,238,320 (GRCm39) E1266D probably damaging Het
Atp1a4 C T 1: 172,062,642 (GRCm39) V622M probably damaging Het
Aup1 A G 6: 83,032,258 (GRCm39) T142A probably benign Het
Bcl6 A T 16: 23,796,319 (GRCm39) I36N probably damaging Het
Best1 A G 19: 9,966,514 (GRCm39) S358P probably damaging Het
Cadps T G 14: 12,449,759 (GRCm38) Q1150P probably damaging Het
Capn5 T A 7: 97,780,403 (GRCm39) E322D possibly damaging Het
Cd300ld2 A T 11: 114,904,513 (GRCm39) M118K probably benign Het
Cdh9 T C 15: 16,856,075 (GRCm39) L705P probably damaging Het
Cep170b T G 12: 112,709,504 (GRCm39) N436K probably damaging Het
Chil6 T A 3: 106,313,278 (GRCm39) I24F probably benign Het
Chmp2a T A 7: 12,767,782 (GRCm39) K48* probably null Het
Col19a1 C T 1: 24,339,665 (GRCm39) probably benign Het
Cops7b C A 1: 86,520,043 (GRCm39) Q65K probably benign Het
Cyp2e1 T A 7: 140,349,069 (GRCm39) L133H probably damaging Het
Dkc1 T C X: 74,152,339 (GRCm39) probably benign Het
Erlec1 A G 11: 30,900,767 (GRCm39) Y134H probably damaging Het
F8 C A X: 74,423,204 (GRCm39) probably benign Het
Fus G A 7: 127,580,679 (GRCm39) R252Q possibly damaging Het
Fzd3 A T 14: 65,490,555 (GRCm39) D9E probably benign Het
Gm15821 T C 17: 34,433,259 (GRCm39) probably benign Het
Gm5117 C A 8: 32,228,344 (GRCm39) noncoding transcript Het
H2-Q6 A G 17: 35,644,152 (GRCm39) I45V probably benign Het
Hectd1 A G 12: 51,847,496 (GRCm39) probably null Het
Ifi204 T C 1: 173,583,220 (GRCm39) K333E probably benign Het
Ildr1 G A 16: 36,536,526 (GRCm39) G185D probably damaging Het
Itgb2 G A 10: 77,383,052 (GRCm39) D141N probably damaging Het
Kdm1b G T 13: 47,214,331 (GRCm39) D226Y probably damaging Het
Krt77 A G 15: 101,769,381 (GRCm39) L460P probably damaging Het
Lamp3 A G 16: 19,474,207 (GRCm39) I389T possibly damaging Het
Macroh2a1 A G 13: 56,222,143 (GRCm39) V336A probably damaging Het
Mars1 C A 10: 127,140,113 (GRCm39) E414* probably null Het
Mpg T C 11: 32,180,042 (GRCm39) V190A probably damaging Het
Myh15 A G 16: 48,937,626 (GRCm39) I742M possibly damaging Het
Nell2 A T 15: 95,194,144 (GRCm39) probably benign Het
Nmur1 T C 1: 86,314,057 (GRCm39) D370G probably benign Het
Npsr1 A G 9: 24,009,578 (GRCm39) E28G probably benign Het
Or52r1 T C 7: 102,536,814 (GRCm39) E182G probably damaging Het
Or56a3 A T 7: 104,735,540 (GRCm39) I206L probably benign Het
Or8b12c G A 9: 37,715,627 (GRCm39) C140Y probably benign Het
Pdzrn3 T C 6: 101,128,899 (GRCm39) N589S possibly damaging Het
Pkd1l3 T C 8: 110,359,848 (GRCm39) L901P probably damaging Het
Plekhg1 G T 10: 3,907,139 (GRCm39) K685N probably damaging Het
Prim1 T A 10: 127,865,652 (GRCm39) *419R probably null Het
Ptk2b G T 14: 66,391,692 (GRCm39) N905K probably damaging Het
Rbm34 T C 8: 127,676,071 (GRCm39) I395V probably benign Het
Rfx1 A G 8: 84,822,438 (GRCm39) E912G possibly damaging Het
Rngtt T C 4: 33,337,936 (GRCm39) V253A possibly damaging Het
Slc2a9 A G 5: 38,594,002 (GRCm39) Y169H possibly damaging Het
Slc49a4 G T 16: 35,555,928 (GRCm39) D177E probably benign Het
Susd4 C A 1: 182,719,645 (GRCm39) T420K probably benign Het
Tdrd3 G A 14: 87,749,118 (GRCm39) G676D probably damaging Het
Tec T C 5: 72,946,587 (GRCm39) K47E probably damaging Het
Tenm2 C A 11: 35,942,743 (GRCm39) G1308* probably null Het
Tmprss15 A T 16: 78,784,629 (GRCm39) D675E probably benign Het
Vmn1r84 A G 7: 12,096,346 (GRCm39) C104R probably damaging Het
Vmn2r49 T A 7: 9,710,378 (GRCm39) M785L probably benign Het
Vmn2r85 G T 10: 130,261,449 (GRCm39) T296K probably damaging Het
Wdr3 C T 3: 100,059,290 (GRCm39) S343N probably benign Het
Yju2 G T 17: 56,269,051 (GRCm39) G53V probably damaging Het
Zfp143 A T 7: 109,690,993 (GRCm39) M515L possibly damaging Het
Zfp735 A G 11: 73,580,626 (GRCm39) I42V probably benign Het
Zswim5 A T 4: 116,819,749 (GRCm39) M385L probably benign Het
Other mutations in Or7a42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01022:Or7a42 APN 10 78,791,188 (GRCm39) missense possibly damaging 0.48
IGL01480:Or7a42 APN 10 78,791,978 (GRCm39) utr 3 prime probably benign
IGL02543:Or7a42 APN 10 78,791,773 (GRCm39) missense probably damaging 1.00
IGL03323:Or7a42 APN 10 78,791,434 (GRCm39) missense probably benign
PIT4466001:Or7a42 UTSW 10 78,791,676 (GRCm39) missense probably benign 0.00
R1496:Or7a42 UTSW 10 78,791,682 (GRCm39) missense probably benign 0.41
R1754:Or7a42 UTSW 10 78,791,531 (GRCm39) missense probably damaging 0.99
R1878:Or7a42 UTSW 10 78,791,639 (GRCm39) missense possibly damaging 0.62
R2760:Or7a42 UTSW 10 78,791,876 (GRCm39) missense probably damaging 0.99
R4202:Or7a42 UTSW 10 78,791,129 (GRCm39) missense probably benign
R4206:Or7a42 UTSW 10 78,791,117 (GRCm39) missense probably benign 0.00
R4517:Or7a42 UTSW 10 78,791,877 (GRCm39) nonsense probably null
R4613:Or7a42 UTSW 10 78,791,899 (GRCm39) missense probably damaging 1.00
R4799:Or7a42 UTSW 10 78,791,931 (GRCm39) missense probably null 0.92
R4979:Or7a42 UTSW 10 78,791,766 (GRCm39) nonsense probably null
R5008:Or7a42 UTSW 10 78,791,905 (GRCm39) missense probably damaging 1.00
R5700:Or7a42 UTSW 10 78,791,318 (GRCm39) missense probably damaging 1.00
R5876:Or7a42 UTSW 10 78,791,191 (GRCm39) missense probably benign 0.15
R6439:Or7a42 UTSW 10 78,791,818 (GRCm39) missense probably damaging 1.00
R6930:Or7a42 UTSW 10 78,791,615 (GRCm39) missense possibly damaging 0.84
R7110:Or7a42 UTSW 10 78,791,284 (GRCm39) missense possibly damaging 0.83
R7405:Or7a42 UTSW 10 78,791,531 (GRCm39) missense probably benign 0.14
R7524:Or7a42 UTSW 10 78,791,325 (GRCm39) nonsense probably null
R8198:Or7a42 UTSW 10 78,791,558 (GRCm39) missense probably damaging 0.97
R9227:Or7a42 UTSW 10 78,791,929 (GRCm39) missense possibly damaging 0.92
R9230:Or7a42 UTSW 10 78,791,929 (GRCm39) missense possibly damaging 0.92
Z1176:Or7a42 UTSW 10 78,791,053 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16