Incidental Mutation 'IGL01022:Or7a42'
ID 53843
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 # IGL01022
Quality Score
Status
Chromosome 10
Chromosomal Location 78791041-78791973 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78791188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 50 (I50F)
Ref Sequence ENSEMBL: ENSMUSP00000148856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081571] [ENSMUST00000203851] [ENSMUST00000214952]
AlphaFold Q60892
Predicted Effect possibly damaging
Transcript: ENSMUST00000081571
AA Change: I50F

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000080282
Gene: ENSMUSG00000094080
AA Change: I50F

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 1.3e-47 PFAM
Pfam:7tm_1 42 291 3e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203851
AA Change: I50F

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144916
Gene: ENSMUSG00000094080
AA Change: I50F

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 1.3e-47 PFAM
Pfam:7tm_1 42 291 3e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214952
AA Change: I50F

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 A G 10: 61,038,721 (GRCm39) S927P probably benign Het
Arfgef1 G T 1: 10,244,301 (GRCm39) F987L probably damaging Het
Asph A T 4: 9,601,344 (GRCm39) N191K possibly damaging Het
Bmpr1b A T 3: 141,577,099 (GRCm39) C71S probably damaging Het
Bod1l A T 5: 41,951,652 (GRCm39) S2920T probably damaging Het
Camta2 G A 11: 70,562,308 (GRCm39) R1030* probably null Het
Chd8 T C 14: 52,474,450 (GRCm39) T194A probably benign Het
Col9a3 A T 2: 180,258,227 (GRCm39) I549F probably damaging Het
Fstl4 A G 11: 53,077,568 (GRCm39) N775S probably benign Het
Gm10800 T A 2: 98,497,576 (GRCm39) probably benign Het
Gm5117 T A 8: 32,228,515 (GRCm39) noncoding transcript Het
Hap1 A G 11: 100,240,374 (GRCm39) L112P probably benign Het
Hcls1 C A 16: 36,771,488 (GRCm39) probably benign Het
Kmt2c A G 5: 25,507,699 (GRCm39) probably benign Het
Lct T A 1: 128,228,596 (GRCm39) I966L probably benign Het
Myo1h A T 5: 114,474,361 (GRCm39) I451F possibly damaging Het
Notch4 G A 17: 34,784,671 (GRCm39) C128Y probably damaging Het
Oca2 T A 7: 55,974,504 (GRCm39) N484K probably damaging Het
Or51f1e T G 7: 102,747,077 (GRCm39) L43R probably damaging Het
Rprd2 T A 3: 95,671,066 (GRCm39) R1362* probably null Het
Sema3a C T 5: 13,523,433 (GRCm39) T134I probably damaging Het
Sfta2 C T 17: 35,961,336 (GRCm39) T74I possibly damaging Het
Slfn10-ps C T 11: 82,926,353 (GRCm39) noncoding transcript Het
Spag11a A T 8: 19,208,005 (GRCm39) Q15H probably damaging Het
Tbc1d22a G A 15: 86,185,756 (GRCm39) D282N probably damaging Het
Tmbim6 G A 15: 99,300,003 (GRCm39) V40M possibly damaging Het
Tmem259 A G 10: 79,819,808 (GRCm39) V22A probably damaging Het
Tnik T C 3: 28,679,377 (GRCm39) probably null Het
Unc13c T C 9: 73,424,610 (GRCm39) D2002G probably benign Het
Other mutations in Or7a42
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-06-28