Incidental Mutation 'R6917:Or10ak12'
ID 539388
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 045038-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R6917 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 118666052-118667059 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118666326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 245 (L245H)
Ref Sequence ENSEMBL: ENSMUSP00000151219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084313] [ENSMUST00000219094]
AlphaFold B2RVY8
Predicted Effect probably damaging
Transcript: ENSMUST00000084313
AA Change: L229H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081339
Gene: ENSMUSG00000066061
AA Change: L229H

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: ENSMUST00000219094
AA Change: L245H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.6%
Validation Efficiency 96% (45/47)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,437,684 (GRCm39) probably null Het
Adcy2 A T 13: 68,768,876 (GRCm39) M1084K possibly damaging Het
Ak1 A G 2: 32,521,164 (GRCm39) Y95C possibly damaging Het
Akap6 A G 12: 53,115,951 (GRCm39) E1018G probably null Het
Ccdc175 A G 12: 72,231,679 (GRCm39) S27P probably damaging Het
Ddx31 C T 2: 28,782,421 (GRCm39) T588I probably damaging Het
Dmxl1 T C 18: 49,997,215 (GRCm39) W504R probably damaging Het
Echs1 T G 7: 139,689,924 (GRCm39) M239L probably benign Het
Eno1b A G 18: 48,180,656 (GRCm39) D278G probably benign Het
Eno3 A G 11: 70,552,262 (GRCm39) T305A probably benign Het
Gm5591 T A 7: 38,221,614 (GRCm39) S152C probably damaging Het
Gngt1 A G 6: 3,996,680 (GRCm39) D42G probably benign Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
H2-Aa T C 17: 34,502,681 (GRCm39) T79A probably damaging Het
Ice1 A T 13: 70,743,013 (GRCm39) Y2116N probably damaging Het
Kdm6b A G 11: 69,297,419 (GRCm39) M311T probably benign Het
L1td1 T C 4: 98,622,268 (GRCm39) F277L probably benign Het
Lamp1 T C 8: 13,222,563 (GRCm39) I249T probably damaging Het
Ldb3 G A 14: 34,277,321 (GRCm39) A351V probably null Het
Lmo7 A G 14: 102,155,446 (GRCm39) E996G probably damaging Het
Lsr T C 7: 30,657,721 (GRCm39) D413G possibly damaging Het
Magel2 CCCTCCTCCTCCTCCTCCTCCT CCCTCCTCCTCCTCCTCCT 7: 62,027,592 (GRCm39) probably benign Het
Myo7a T C 7: 97,744,970 (GRCm39) E290G possibly damaging Het
Nos2 C T 11: 78,842,053 (GRCm39) T735M possibly damaging Het
Or11h6 A G 14: 50,880,680 (GRCm39) K314R possibly damaging Het
Or8g36 T A 9: 39,422,495 (GRCm39) I174L probably damaging Het
Pik3c2g T C 6: 139,841,899 (GRCm39) L768P probably benign Het
Plod2 T A 9: 92,475,823 (GRCm39) V302D possibly damaging Het
Ptgdr A T 14: 45,096,067 (GRCm39) V215E possibly damaging Het
Rad51d C T 11: 82,770,159 (GRCm39) R199Q probably damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Rtel1 ATT ATTTT 2: 180,980,070 (GRCm39) probably null Het
Sgip1 A G 4: 102,825,388 (GRCm39) R772G probably damaging Het
Slc19a2 C A 1: 164,088,578 (GRCm39) T141N probably damaging Het
Sp4 G T 12: 118,262,908 (GRCm39) N379K probably damaging Het
Thrap3 A G 4: 126,074,285 (GRCm39) probably benign Het
Thumpd2 T G 17: 81,351,543 (GRCm39) I293L probably benign Het
Tjp1 A G 7: 64,949,436 (GRCm39) S1649P probably damaging Het
Tssk4 A G 14: 55,889,864 (GRCm39) S326G probably benign Het
Txndc9 A C 1: 38,034,887 (GRCm39) S6A probably benign Het
Uhrf1 T C 17: 56,616,574 (GRCm39) Y131H probably damaging Het
Vnn3 A G 10: 23,741,832 (GRCm39) D379G possibly damaging Het
Vsig2 T A 9: 37,452,745 (GRCm39) S105T probably benign Het
Zfp445 A T 9: 122,691,359 (GRCm39) probably null Het
Zfp654 A T 16: 64,606,834 (GRCm39) M456K 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
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
Predicted Primers PCR Primer
(F):5'- AGAAATGCCCTCTTGATGTCC -3'
(R):5'- ATATTGTGGGCCCAACAGG -3'

Sequencing Primer
(F):5'- TGTTTCTCAGACTGTAGACCAC -3'
(R):5'- AGGGTCAACCACTACTTGTG -3'
Posted On 2018-11-06