Incidental Mutation 'IGL02562:Or10a2'
ID 298685
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or10a2
Ensembl Gene ENSMUSG00000049674
Gene Name olfactory receptor family 10 subfamily A member 2
Synonyms GA_x6K02T2PBJ9-9453401-9454354, Olfr714, P4, MOR263-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL02562
Quality Score
Status
Chromosome 7
Chromosomal Location 106673037-106673990 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 106673769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 245 (H245N)
Ref Sequence ENSEMBL: ENSMUSP00000151106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054629] [ENSMUST00000214429]
AlphaFold Q7TRN0
Predicted Effect probably benign
Transcript: ENSMUST00000054629
AA Change: H245N

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000095742
Gene: ENSMUSG00000049674
AA Change: H245N

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 8.5e-56 PFAM
Pfam:7tm_1 42 291 3.5e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207951
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214123
Predicted Effect probably benign
Transcript: ENSMUST00000214429
AA Change: H245N

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
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]
PHENOTYPE: Mice homozygous for a reporter allele exhibit abnormal olfactory sensory neuron projections. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T C 3: 151,144,949 (GRCm39) C33R probably damaging Het
Aifm3 A G 16: 17,324,126 (GRCm39) N562S probably benign Het
Akap14 G A X: 36,427,441 (GRCm39) T98M possibly damaging Het
Atp7b T G 8: 22,518,101 (GRCm39) T234P probably benign Het
Atp8b1 T A 18: 64,715,057 (GRCm39) Q65L probably benign Het
Bclaf3 T C X: 158,349,434 (GRCm39) S600P probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Col4a5 A G X: 140,439,671 (GRCm39) probably benign Het
Gigyf2 A G 1: 87,335,097 (GRCm39) D120G probably benign Het
Gm4953 A T 1: 158,996,077 (GRCm39) noncoding transcript Het
Hip1r G T 5: 124,129,586 (GRCm39) probably benign Het
Itga2 A G 13: 114,973,106 (GRCm39) probably benign Het
Itga3 T C 11: 94,959,619 (GRCm39) T85A probably benign Het
Loxl1 A G 9: 58,196,199 (GRCm39) S607P probably damaging Het
Marchf2 G A 17: 33,915,048 (GRCm39) T182I probably damaging Het
Mbd1 T C 18: 74,409,993 (GRCm39) S386P probably benign Het
Meis2 C A 2: 115,879,627 (GRCm39) G231V probably damaging Het
Myo1h A G 5: 114,496,053 (GRCm39) K774E probably benign Het
Or1e26 T C 11: 73,480,237 (GRCm39) N109S probably benign Het
Or2l5 A T 16: 19,333,714 (GRCm39) I224N possibly damaging Het
Or51ag1 G T 7: 103,155,423 (GRCm39) C243* probably null Het
Or8u9 T G 2: 86,001,384 (GRCm39) Y259S probably damaging Het
Pcm1 T A 8: 41,778,405 (GRCm39) D1813E probably damaging Het
Pdcl2 A G 5: 76,467,038 (GRCm39) Y52H probably damaging Het
Piezo1 T C 8: 123,223,502 (GRCm39) T816A probably benign Het
Ptpn13 T G 5: 103,710,157 (GRCm39) L1564R probably damaging Het
Pwwp3a A G 10: 80,074,729 (GRCm39) D438G probably damaging Het
S2bpcox16 T C 12: 81,557,616 (GRCm39) D63G probably damaging Het
Slc7a2 T A 8: 41,368,057 (GRCm39) M607K probably damaging Het
Snrpa T A 7: 26,891,123 (GRCm39) K116M probably damaging Het
Spon1 A G 7: 113,635,996 (GRCm39) S737G probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Sspo A G 6: 48,467,056 (GRCm39) probably null Het
Tubb4a C A 17: 57,388,163 (GRCm39) E288* probably null Het
Vmn2r87 A T 10: 130,314,513 (GRCm39) C358S probably damaging Het
Other mutations in Or10a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02230:Or10a2 APN 7 106,673,700 (GRCm39) missense probably damaging 0.98
IGL02597:Or10a2 APN 7 106,673,646 (GRCm39) missense possibly damaging 0.89
IGL02598:Or10a2 APN 7 106,673,923 (GRCm39) missense possibly damaging 0.64
IGL02981:Or10a2 APN 7 106,673,758 (GRCm39) missense probably damaging 1.00
BB004:Or10a2 UTSW 7 106,673,496 (GRCm39) missense probably benign 0.00
BB014:Or10a2 UTSW 7 106,673,496 (GRCm39) missense probably benign 0.00
R0064:Or10a2 UTSW 7 106,673,487 (GRCm39) missense probably benign 0.02
R0064:Or10a2 UTSW 7 106,673,487 (GRCm39) missense probably benign 0.02
R0518:Or10a2 UTSW 7 106,673,965 (GRCm39) missense possibly damaging 0.81
R0521:Or10a2 UTSW 7 106,673,965 (GRCm39) missense possibly damaging 0.81
R1661:Or10a2 UTSW 7 106,673,481 (GRCm39) missense probably damaging 1.00
R1665:Or10a2 UTSW 7 106,673,481 (GRCm39) missense probably damaging 1.00
R2069:Or10a2 UTSW 7 106,673,826 (GRCm39) nonsense probably null
R2202:Or10a2 UTSW 7 106,673,523 (GRCm39) missense probably damaging 1.00
R3884:Or10a2 UTSW 7 106,673,110 (GRCm39) missense possibly damaging 0.72
R4362:Or10a2 UTSW 7 106,673,799 (GRCm39) missense probably damaging 0.99
R4618:Or10a2 UTSW 7 106,673,761 (GRCm39) missense probably damaging 1.00
R5375:Or10a2 UTSW 7 106,673,080 (GRCm39) missense probably benign 0.05
R5654:Or10a2 UTSW 7 106,673,394 (GRCm39) missense probably damaging 1.00
R6228:Or10a2 UTSW 7 106,673,343 (GRCm39) missense probably damaging 1.00
R7196:Or10a2 UTSW 7 106,673,935 (GRCm39) missense probably benign 0.01
R7202:Or10a2 UTSW 7 106,673,448 (GRCm39) missense probably benign 0.01
R7232:Or10a2 UTSW 7 106,673,062 (GRCm39) missense probably benign 0.03
R7927:Or10a2 UTSW 7 106,673,496 (GRCm39) missense probably benign 0.00
R9157:Or10a2 UTSW 7 106,673,214 (GRCm39) missense probably damaging 1.00
R9526:Or10a2 UTSW 7 106,673,739 (GRCm39) nonsense probably null
R9629:Or10a2 UTSW 7 106,673,164 (GRCm39) missense probably damaging 1.00
Z1088:Or10a2 UTSW 7 106,673,612 (GRCm39) missense possibly damaging 0.84
Posted On 2015-04-16