Incidental Mutation 'R6439:Or7a42'
ID 518941
Institutional Source Beutler Lab
Gene Symbol Or7a42
Ensembl Gene ENSMUSG00000094080
Gene Name olfactory receptor family 7 subfamily A member 42
Synonyms GA_x6K02T2QGN0-2857086-2856154, MOR139-5P, Olfr8
MMRRC Submission 044577-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R6439 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 78791041-78791973 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78791818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 260 (Y260N)
Ref Sequence ENSEMBL: ENSMUSP00000148856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081571] [ENSMUST00000203851] [ENSMUST00000214952]
AlphaFold Q60892
Predicted Effect probably damaging
Transcript: ENSMUST00000081571
AA Change: Y260N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080282
Gene: ENSMUSG00000094080
AA Change: Y260N

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 1.3e-47 PFAM
Pfam:7tm_1 42 291 3e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203851
AA Change: Y260N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144916
Gene: ENSMUSG00000094080
AA Change: Y260N

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 1.3e-47 PFAM
Pfam:7tm_1 42 291 3e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214952
AA Change: Y260N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216819
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.5%
Validation Efficiency 100% (35/35)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik T C 15: 57,895,444 (GRCm39) D18G probably null Het
A530064D06Rik A G 17: 48,473,653 (GRCm39) V88A probably damaging Het
Abhd6 T C 14: 8,055,589 (GRCm38) L272P probably damaging Het
Adam25 C T 8: 41,207,627 (GRCm39) R298C possibly damaging Het
Adam34l T C 8: 44,078,988 (GRCm39) N412S probably damaging Het
Afap1l2 T C 19: 56,916,818 (GRCm39) N219D possibly damaging Het
Brd3 A G 2: 27,353,938 (GRCm39) F58S probably damaging Het
Ceacam3 G A 7: 16,892,253 (GRCm39) R332H possibly damaging Het
Cfap57 C A 4: 118,446,172 (GRCm39) probably null Het
Chd2 A G 7: 73,130,154 (GRCm39) F834L probably damaging Het
Crocc2 A G 1: 93,111,126 (GRCm39) K140E possibly damaging Het
Fam117b A G 1: 60,020,731 (GRCm39) T534A probably benign Het
Fchsd1 C T 18: 38,102,487 (GRCm39) V14I probably damaging Het
Grid2ip A T 5: 143,359,257 (GRCm39) E291V probably damaging Het
Hbp1 A G 12: 31,987,720 (GRCm39) L146S probably damaging Het
Hr A G 14: 70,799,276 (GRCm39) D616G possibly damaging Het
Igfbp5 A C 1: 72,902,300 (GRCm39) probably null Het
Jak2 C T 19: 29,287,022 (GRCm39) probably null Het
Mpl T C 4: 118,305,750 (GRCm39) D425G probably damaging Het
Ms4a4c T C 19: 11,398,676 (GRCm39) S165P probably benign Het
Mycbp2 A G 14: 103,392,911 (GRCm39) S3217P probably benign Het
Nfatc3 T A 8: 106,810,502 (GRCm39) L426* probably null Het
Or4f47 T C 2: 111,972,509 (GRCm39) V73A probably benign Het
Or5ak24 T C 2: 85,261,068 (GRCm39) Y35C probably damaging Het
Phf1 G T 17: 27,155,586 (GRCm39) V384L probably benign Het
Rangap1 T C 15: 81,596,336 (GRCm39) T259A probably benign Het
Rec8 A G 14: 55,856,076 (GRCm39) N6S possibly damaging Het
Rmdn2 G A 17: 79,934,971 (GRCm39) probably benign Het
Scin T C 12: 40,118,945 (GRCm39) Y617C probably damaging Het
Ttc13 T C 8: 125,400,221 (GRCm39) S744G probably benign Het
Ttc14 T C 3: 33,862,968 (GRCm39) probably benign Het
Uggt1 T C 1: 36,214,032 (GRCm39) E219G possibly damaging Het
Vmn1r183 A G 7: 23,754,704 (GRCm39) D169G possibly damaging Het
Vmn1r72 A T 7: 11,413,064 (GRCm39) probably null Het
Zfp326 T G 5: 106,036,584 (GRCm39) M76R probably null 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
IGL02505:Or7a42 APN 10 78,791,767 (GRCm39) missense probably benign 0.02
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
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
Predicted Primers PCR Primer
(F):5'- CCAGCTGTCTCAACTCACATG -3'
(R):5'- GCCAGTCCAATGATACACTTTACAG -3'

Sequencing Primer
(F):5'- GTCTCAACTCACATGTTTAGACAGC -3'
(R):5'- TCCAATGATACACTTTACAGTTTTCC -3'
Posted On 2018-05-24