Incidental Mutation 'IGL02543:Or7a42'
ID 298269
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 # IGL02543
Quality Score
Status
Chromosome 10
Chromosomal Location 78791041-78791973 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 78791773 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 245 (H245N)
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: H245N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080282
Gene: ENSMUSG00000094080
AA Change: H245N

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: H245N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144916
Gene: ENSMUSG00000094080
AA Change: H245N

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: H245N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G T 19: 31,895,495 (GRCm39) A193S probably damaging Het
Adcy4 T C 14: 56,006,627 (GRCm39) T1069A probably benign Het
Arg2 A T 12: 79,197,533 (GRCm39) I184F probably benign Het
Asb18 G A 1: 89,942,113 (GRCm39) P63S probably damaging Het
Cep85 T C 4: 133,883,634 (GRCm39) H85R possibly damaging Het
Chfr A G 5: 110,291,413 (GRCm39) probably null Het
Cog2 A G 8: 125,256,698 (GRCm39) N148S probably benign Het
Csgalnact1 T C 8: 68,913,720 (GRCm39) T162A probably damaging Het
Ddi1 C T 9: 6,266,183 (GRCm39) G62D possibly damaging Het
Dhx33 T C 11: 70,878,066 (GRCm39) Y435C probably damaging Het
Dsc3 A T 18: 20,098,885 (GRCm39) C765S probably benign Het
Egfem1 T A 3: 29,722,529 (GRCm39) D362E probably benign Het
Gm28040 A T 1: 133,247,069 (GRCm39) I26F possibly damaging Het
Gm28778 T C 1: 53,338,202 (GRCm39) M22T probably benign Het
Hdac1-ps A G 17: 78,799,303 (GRCm39) E98G probably damaging Het
Hipk2 A G 6: 38,680,436 (GRCm39) I968T possibly damaging Het
Hlx T G 1: 184,462,948 (GRCm39) S235R probably damaging Het
Jag1 T C 2: 136,933,867 (GRCm39) probably benign Het
Kdr A G 5: 76,125,607 (GRCm39) probably benign Het
Klhl3 T C 13: 58,166,685 (GRCm39) E435G probably damaging Het
L3mbtl4 T C 17: 68,768,607 (GRCm39) probably benign Het
Large1 T A 8: 73,775,042 (GRCm39) M223L probably benign Het
Lrp1b T C 2: 40,760,413 (GRCm39) K2838E possibly damaging Het
Ncan T C 8: 70,561,221 (GRCm39) D582G probably benign Het
Nedd9 T C 13: 41,470,211 (GRCm39) D314G probably damaging Het
Nip7 T C 8: 107,784,825 (GRCm39) probably benign Het
Or10j27 T G 1: 172,957,901 (GRCm39) K294N probably damaging Het
Or52ae9 A T 7: 103,389,710 (GRCm39) C246S possibly damaging Het
P3h1 T C 4: 119,095,053 (GRCm39) probably benign Het
Pcp4l1 C T 1: 171,003,133 (GRCm39) probably benign Het
Plekhm2 C T 4: 141,369,330 (GRCm39) G118D probably benign Het
Prkg1 T C 19: 30,602,134 (GRCm39) D374G possibly damaging Het
Ptcd1 A G 5: 145,091,497 (GRCm39) L534P possibly damaging Het
Rnf123 A G 9: 107,943,547 (GRCm39) S563P probably damaging Het
Scart1 A G 7: 139,800,491 (GRCm39) M91V probably benign Het
Sdk2 A T 11: 113,759,747 (GRCm39) I418N possibly damaging Het
Slc26a4 A G 12: 31,578,688 (GRCm39) I655T possibly damaging Het
Syne1 T C 10: 4,993,618 (GRCm39) K524R probably damaging Het
Tanc1 G T 2: 59,663,602 (GRCm39) G1120C probably damaging Het
Tbc1d22a C T 15: 86,123,372 (GRCm39) A135V probably benign Het
Tenm3 A C 8: 48,751,991 (GRCm39) W942G probably damaging Het
Thsd7b G A 1: 130,092,840 (GRCm39) V1247I probably benign Het
Treml1 A G 17: 48,667,459 (GRCm39) T115A possibly damaging Het
Ttn T C 2: 76,540,306 (GRCm39) T34227A probably benign Het
Ugt2b38 T A 5: 87,571,342 (GRCm39) D230V probably benign Het
Vmn1r203 G A 13: 22,709,074 (GRCm39) G285D probably damaging Het
Vmn2r76 A G 7: 85,879,356 (GRCm39) S315P probably benign Het
Vmn2r98 T G 17: 19,286,083 (GRCm39) S194A probably benign Het
Wdr1 G A 5: 38,703,165 (GRCm39) S137F probably damaging Het
Wnt7b C T 15: 85,443,097 (GRCm39) probably benign Het
Zfp668 A T 7: 127,467,494 (GRCm39) C27* 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
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