Incidental Mutation 'R8293:Or10ak12'
ID 638784
Institutional Source Beutler Lab
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
MMRRC Submission 067783-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R8293 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 118666052-118667059 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118666939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 41 (T41S)
Ref Sequence ENSEMBL: ENSMUSP00000151219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084313] [ENSMUST00000105035] [ENSMUST00000219094]
AlphaFold B2RVY8
Predicted Effect probably damaging
Transcript: ENSMUST00000084313
AA Change: T41S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081339
Gene: ENSMUSG00000066061
AA Change: T41S

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 benign
Transcript: ENSMUST00000105035
AA Change: T25S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100652
Gene: ENSMUSG00000073768
AA Change: T25S

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 benign
Transcript: ENSMUST00000219094
AA Change: T41S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (58/59)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,061,864 (GRCm39) S105P possibly damaging Het
Acsm1 T G 7: 119,237,319 (GRCm39) S211A possibly damaging Het
Adam4 T A 12: 81,467,185 (GRCm39) R479* probably null Het
Agap3 A C 5: 24,692,883 (GRCm39) S439R probably damaging Het
Arap1 A T 7: 101,050,141 (GRCm39) H1075L probably benign Het
Arhgef28 T C 13: 98,079,029 (GRCm39) E1299G probably benign Het
Bnip5 T C 17: 29,121,864 (GRCm39) K468E probably benign Het
Cc2d2a A T 5: 43,845,570 (GRCm39) I329F probably damaging Het
Ccdc9b T A 2: 118,591,796 (GRCm39) T115S probably damaging Het
Cd200r1 A G 16: 44,610,084 (GRCm39) N101S probably benign Het
Ces2b A C 8: 105,559,258 (GRCm39) T40P unknown Het
Cfap221 A G 1: 119,909,504 (GRCm39) V156A possibly damaging Het
Chrm4 C T 2: 91,758,563 (GRCm39) P324S probably benign Het
Chrna1 T A 2: 73,400,850 (GRCm39) M227L probably benign Het
Cntln A G 4: 84,952,075 (GRCm39) D639G probably damaging Het
Cts8 A G 13: 61,401,882 (GRCm39) V5A probably benign Het
Cxcl2 A T 5: 91,052,088 (GRCm39) T65S probably damaging Het
Cyp2c39 G T 19: 39,552,411 (GRCm39) R368L probably benign Het
D630023F18Rik A T 1: 65,147,939 (GRCm39) S205T probably benign Het
Dagla A T 19: 10,229,401 (GRCm39) probably null Het
Dtnbp1 G A 13: 45,084,615 (GRCm39) T175I probably benign Het
Dtx3 A G 10: 127,026,882 (GRCm39) L332P probably damaging Het
E2f4 A G 8: 106,024,451 (GRCm39) T27A probably damaging Het
Ep400 A G 5: 110,856,758 (GRCm39) F1163L unknown Het
Fam83h ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT 15: 75,874,624 (GRCm39) probably benign Het
Fbxo40 T C 16: 36,790,387 (GRCm39) D241G probably benign Het
Fus T C 7: 127,571,749 (GRCm39) S184P unknown Het
Gabarap C A 11: 69,883,498 (GRCm39) T87N possibly damaging Het
Gbp10 A C 5: 105,372,235 (GRCm39) V175G probably damaging Het
Gcm2 A G 13: 41,256,646 (GRCm39) Y368H probably damaging Het
Heca A G 10: 17,778,011 (GRCm39) Y529H probably damaging Het
Incenp G A 19: 9,852,497 (GRCm39) R714* probably null Het
Lvrn C A 18: 46,983,632 (GRCm39) T125K possibly damaging Het
Ms4a6c T A 19: 11,455,660 (GRCm39) S156R probably benign Het
Nab2 C A 10: 127,502,266 (GRCm39) R21L possibly damaging Het
Neb A T 2: 52,136,827 (GRCm39) M3218K probably benign Het
Nwd2 A G 5: 63,962,663 (GRCm39) D749G probably benign Het
Nxpe5 A T 5: 138,228,804 (GRCm39) Q7L probably benign Het
Or4f62 A T 2: 111,986,598 (GRCm39) M101L probably benign Het
Or5p4 A T 7: 107,680,269 (GRCm39) E89D probably benign Het
Or8g26 A G 9: 39,095,689 (GRCm39) I72V possibly damaging Het
Pla2g5 A G 4: 138,531,917 (GRCm39) I29T probably damaging Het
Prpf31 C T 7: 3,643,917 (GRCm39) T499I probably damaging Het
Rnf130 T A 11: 49,986,623 (GRCm39) D322E probably benign Het
Ros1 T C 10: 51,964,014 (GRCm39) N1770D probably damaging Het
Sacs T A 14: 61,428,548 (GRCm39) D202E probably damaging Het
Simc1 A G 13: 54,674,359 (GRCm39) I902M probably damaging Het
Slc12a8 A T 16: 33,361,348 (GRCm39) M77L probably benign Het
Slc35f2 G A 9: 53,724,224 (GRCm39) G366D probably benign Het
Slc44a2 A G 9: 21,264,984 (GRCm39) D674G probably damaging Het
Smok2a A C 17: 13,445,791 (GRCm39) E456A probably benign Het
Stip1 T C 19: 7,011,618 (GRCm39) N139S probably benign Het
Taar8c C T 10: 23,977,015 (GRCm39) V266M probably benign Het
Tank T A 2: 61,474,758 (GRCm39) I204N possibly damaging Het
Tcerg1 A G 18: 42,694,020 (GRCm39) T714A probably benign Het
Tenm3 A T 8: 48,820,457 (GRCm39) F334I possibly damaging Het
Ubr1 T C 2: 120,693,202 (GRCm39) I1735V probably benign Het
Vps13a A T 19: 16,645,969 (GRCm39) S2023T possibly damaging Het
Wdfy4 T C 14: 32,696,218 (GRCm39) H2741R Het
Wnt10a G T 1: 74,842,376 (GRCm39) R284L probably damaging Het
Other mutations in Or10ak12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01096:Or10ak12 APN 4 118,666,653 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- ATGGTGGTGGTGACATAGCC -3'
(R):5'- AGGAACTGATCACAGAGCTTAG -3'

Sequencing Primer
(F):5'- TGGTGGTGACATAGCCCATATCC -3'
(R):5'- CACCAAGTGTGTGTCTGGAC -3'
Posted On 2020-07-28