Incidental Mutation 'IGL01096:Or10ak12'
ID 50889
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or10ak12
Ensembl Gene ENSMUSG00000066061
Gene Name olfactory receptor family 10 subfamily AK member 12
Synonyms GA_x6K02T2QD9B-18726774-18727577, MOR259-5, Olfr1334-ps1, Olfr1335, GA_x6K02T2QD9B-18723799-18724749, MOR259-12
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # IGL01096
Quality Score
Status
Chromosome 4
Chromosomal Location 118666052-118667059 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118666653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 136 (V136A)
Ref Sequence ENSEMBL: ENSMUSP00000151219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084313] [ENSMUST00000105035] [ENSMUST00000219094]
AlphaFold B2RVY8
Predicted Effect possibly damaging
Transcript: ENSMUST00000084313
AA Change: V120A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081339
Gene: ENSMUSG00000066061
AA Change: V120A

DomainStartEndE-ValueType
Pfam:7tm_4 50 326 2.3e-56 PFAM
Pfam:7TM_GPCR_Srsx 54 323 3.7e-8 PFAM
Pfam:7tm_1 60 309 2.1e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105035
AA Change: V120A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000100652
Gene: ENSMUSG00000073768
AA Change: V120A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 38 307 6.4e-8 PFAM
Pfam:7tm_1 44 293 2.9e-31 PFAM
Pfam:7tm_4 142 286 6.7e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000219094
AA Change: V136A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 A T 8: 95,766,221 (GRCm39) M351L possibly damaging Het
Alk T C 17: 72,228,891 (GRCm39) K725E possibly damaging Het
Castor1 A C 11: 4,171,850 (GRCm39) E309A probably damaging Het
Dspp T A 5: 104,323,233 (GRCm39) H125Q possibly damaging Het
Elmo2 A T 2: 165,138,907 (GRCm39) probably benign Het
Erg A G 16: 95,190,912 (GRCm39) probably benign Het
Fam20c A G 5: 138,794,910 (GRCm39) E513G possibly damaging Het
Gm9839 G T 1: 32,559,917 (GRCm39) T55N possibly damaging Het
Gpd2 A T 2: 57,228,879 (GRCm39) M228L probably damaging Het
Hp A T 8: 110,302,033 (GRCm39) M305K probably benign Het
Ifng T A 10: 118,281,174 (GRCm39) probably benign Het
Igkv9-123 T C 6: 67,931,449 (GRCm39) D39G possibly damaging Het
Melk T A 4: 44,347,262 (GRCm39) F431I probably benign Het
Or12j5 A T 7: 140,084,097 (GRCm39) S92T probably damaging Het
Or4p19 A G 2: 88,242,135 (GRCm39) M289T probably damaging Het
Or51k1 A C 7: 103,661,321 (GRCm39) L196W probably damaging Het
Or8g27 G A 9: 39,129,412 (GRCm39) G253D probably damaging Het
Pappa T C 4: 65,107,553 (GRCm39) Y655H probably damaging Het
Prss58 A T 6: 40,872,399 (GRCm39) I208N probably damaging Het
Ryr2 T A 13: 11,718,430 (GRCm39) I2720F probably damaging Het
Slc13a1 G T 6: 24,104,076 (GRCm39) T322K probably damaging Het
Spag17 T C 3: 99,970,691 (GRCm39) F1292L probably benign Het
Tbx5 A G 5: 120,021,091 (GRCm39) T366A probably benign Het
Tmeff2 G A 1: 50,969,705 (GRCm39) probably benign Het
Tmem101 C A 11: 102,045,378 (GRCm39) probably null Het
Tpp2 C A 1: 44,000,048 (GRCm39) P389T probably damaging Het
Tyk2 A G 9: 21,020,159 (GRCm39) Y1000H probably damaging Het
Ush2a C A 1: 188,410,574 (GRCm39) N2407K probably damaging Het
Vmn1r94 C T 7: 19,901,561 (GRCm39) V248I probably damaging Het
Vmn2r12 T A 5: 109,234,125 (GRCm39) I696F probably damaging Het
Vmn2r83 A G 10: 79,313,662 (GRCm39) E90G probably damaging Het
Washc5 T C 15: 59,222,060 (GRCm39) probably benign Het
Wee2 A G 6: 40,440,187 (GRCm39) E445G probably benign Het
Zfp518b T C 5: 38,830,131 (GRCm39) T625A probably benign Het
Other mutations in Or10ak12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02481:Or10ak12 APN 4 118,666,696 (GRCm39) missense probably benign 0.01
IGL02483:Or10ak12 APN 4 118,666,696 (GRCm39) missense probably benign 0.01
R0058:Or10ak12 UTSW 4 118,666,677 (GRCm39) missense probably benign
R0069:Or10ak12 UTSW 4 118,666,887 (GRCm39) missense probably damaging 1.00
R0357:Or10ak12 UTSW 4 118,666,614 (GRCm39) missense probably damaging 1.00
R1274:Or10ak12 UTSW 4 118,666,593 (GRCm39) missense probably benign 0.01
R1432:Or10ak12 UTSW 4 118,666,435 (GRCm39) missense probably benign 0.00
R2305:Or10ak12 UTSW 4 118,666,058 (GRCm39) missense probably benign 0.35
R2368:Or10ak12 UTSW 4 118,667,019 (GRCm39) missense probably benign
R3842:Or10ak12 UTSW 4 118,666,452 (GRCm39) missense probably damaging 1.00
R3980:Or10ak12 UTSW 4 118,666,500 (GRCm39) missense probably benign 0.22
R4722:Or10ak12 UTSW 4 118,666,146 (GRCm39) missense probably damaging 0.99
R5074:Or10ak12 UTSW 4 118,666,057 (GRCm39) missense possibly damaging 0.82
R5439:Or10ak12 UTSW 4 118,666,560 (GRCm39) missense possibly damaging 0.95
R5930:Or10ak12 UTSW 4 118,666,575 (GRCm39) missense probably benign 0.01
R6917:Or10ak12 UTSW 4 118,666,326 (GRCm39) missense probably damaging 1.00
R7287:Or10ak12 UTSW 4 118,666,939 (GRCm39) missense probably benign 0.01
R7525:Or10ak12 UTSW 4 118,666,691 (GRCm39) missense probably damaging 0.99
R7717:Or10ak12 UTSW 4 118,666,130 (GRCm39) missense probably damaging 0.99
R8293:Or10ak12 UTSW 4 118,666,939 (GRCm39) missense probably benign 0.01
R8765:Or10ak12 UTSW 4 118,666,159 (GRCm39) missense probably benign 0.05
R8877:Or10ak12 UTSW 4 118,666,482 (GRCm39) missense probably damaging 0.98
R9165:Or10ak12 UTSW 4 118,666,195 (GRCm39) nonsense probably null
R9689:Or10ak12 UTSW 4 118,666,999 (GRCm39) missense probably benign
X0023:Or10ak12 UTSW 4 118,666,818 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21