Incidental Mutation 'R2887:Aurka'
ID 261074
Institutional Source Beutler Lab
Gene Symbol Aurka
Ensembl Gene ENSMUSG00000027496
Gene Name aurora kinase A
Synonyms Stk6, IAK1, IAK, AIRK1, Aurora-A, Ark1, Ayk1, aurora A
MMRRC Submission 040475-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2887 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 172198110-172212455 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 172209040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 54 (S54P)
Ref Sequence ENSEMBL: ENSMUSP00000028997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028997] [ENSMUST00000109139] [ENSMUST00000109140] [ENSMUST00000116375] [ENSMUST00000151511]
AlphaFold P97477
PDB Structure Crystal structure of mouse Aurora A (Asn186->Gly, Lys240->Arg, Met302->Leu) in complex with 1-{5-[2-(thieno[3,2-d]pyrimidin-4-ylamino)-ethyl]- thiazol-2-yl}-3-(3-trifluoromethyl-phenyl)-urea [X-RAY DIFFRACTION]
Crystal structure of mouse Aurora A (Asn186->Gly, Lys240->Arg, Met302->Leu) in complex with 1-(3-chloro-phenyl)-3-{5-[2-(thieno[3,2-d]pyrimidin-4-ylamino)- ethyl]-thiazol-2-yl}-urea [SNS-314] [X-RAY DIFFRACTION]
Crystal structure of mouse Aurora A (Asn186->Gly, Lys240->Arg, Met302->Leu) in complex with 1-{5-[2-(1-methyl-1H-pyrazolo[4,3-d]pyrimidin-7-ylamino)-ethyl]-thiazol-2-yl}-3-(3-trifluoromethyl-phenyl)-urea [X-RAY DIFFRACTION]
Crystal structure of mouse Aurora A (Asn186->Gly, Lys240->Arg, Met302->Leu) in complex with [7-(2-{2-[3-(3-chloro-phenyl)-ureido]-thiazol-5-yl}-ethylamino)-pyrazolo[4,3-d]pyrimidin-1-yl]-acetic acid [X-RAY DIFFRACTION]
Crystal structure of Aurora A complexed with an inhibitor discovered through site-directed dynamic tethering [X-RAY DIFFRACTION]
Crystal structure of the mouse Aurora-A catalytic domain (Asn186->Gly, Lys240->Arg, Met302->Leu) in complex with Compound 290. [X-RAY DIFFRACTION]
Crystal structure of the mouse Aurora-A catalytic domain (Asn186->Gly, Lys240->Arg, Met302->Leu) in complex with Compound 823. [X-RAY DIFFRACTION]
Crystal structure of the mouse Aurora-A catalytic domain (Asn186->Gly, Lys240->Arg, Met302->Leu) in complex with Compound 130. [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000028997
AA Change: S54P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000028997
Gene: ENSMUSG00000027496
AA Change: S54P

DomainStartEndE-ValueType
S_TKc 146 396 2.25e-99 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109139
AA Change: S32P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000104767
Gene: ENSMUSG00000027496
AA Change: S32P

DomainStartEndE-ValueType
S_TKc 124 374 2.25e-99 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109140
AA Change: S32P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000104768
Gene: ENSMUSG00000027496
AA Change: S32P

DomainStartEndE-ValueType
S_TKc 124 374 2.25e-99 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116375
SMART Domains Protein: ENSMUSP00000112076
Gene: ENSMUSG00000027498

DomainStartEndE-ValueType
Pfam:CSTF1_dimer 6 62 5.4e-28 PFAM
WD40 97 136 2.61e-3 SMART
WD40 162 201 3.29e-9 SMART
WD40 206 245 6.88e0 SMART
WD40 248 290 9.02e-7 SMART
WD40 293 334 1.44e-5 SMART
Blast:WD40 337 382 8e-9 BLAST
WD40 385 425 2.49e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126107
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128004
Predicted Effect probably benign
Transcript: ENSMUST00000151511
SMART Domains Protein: ENSMUSP00000121178
Gene: ENSMUSG00000027498

DomainStartEndE-ValueType
PDB:2XZ2|A 8 59 2e-7 PDB
WD40 97 136 2.61e-3 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cell cycle-regulated kinase that appears to be involved in microtubule formation and/or stabilization at the spindle pole during chromosome segregation. The encoded protein is found at the centrosome in interphase cells and at the spindle poles in mitosis. This gene may play a role in tumor development and progression. A processed pseudogene of this gene has been found on chromosome 1, and an unprocessed pseudogene has been found on chromosome 10. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display embryonic lethality before implantation, early embryonic growth arrest, and impaired mitosis. Heterozygous null mice display increased incidence of tumors primarily lymphomas and chromosomal instability. [provided by MGI curators]
Allele List at MGI

All alleles(25) : Targeted(4) Gene trapped(21)
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009A15Rik T C 19: 8,867,395 (GRCm39) S65P probably damaging Het
Adamts20 C T 15: 94,228,459 (GRCm39) R996H probably benign Het
Clec7a C T 6: 129,447,960 (GRCm39) G35E probably damaging Het
Clock G A 5: 76,393,120 (GRCm39) R239C probably damaging Het
Eefsec T C 6: 88,235,341 (GRCm39) T214A probably benign Het
Emg1 T C 6: 124,682,026 (GRCm39) H166R probably damaging Het
Fibin T A 2: 110,193,122 (GRCm39) I7F probably benign Het
Golm1 G T 13: 59,788,044 (GRCm39) T285K probably benign Het
Ivl C A 3: 92,478,699 (GRCm39) R455S unknown Het
Lama4 A C 10: 38,968,250 (GRCm39) Q1464P possibly damaging Het
Lamp1 T A 8: 13,223,891 (GRCm39) L341H probably damaging Het
Or13a28 A T 7: 140,218,138 (GRCm39) I175F probably damaging Het
Ppp1r3a T G 6: 14,718,248 (GRCm39) S889R possibly damaging Het
Ptprc A G 1: 138,007,916 (GRCm39) V711A probably damaging Het
Rimklb T C 6: 122,449,657 (GRCm39) T6A probably benign Het
Serpina3c T C 12: 104,113,549 (GRCm39) H399R probably benign Het
Slc35a5 A G 16: 44,971,923 (GRCm39) C114R probably damaging Het
Slc7a13 A G 4: 19,819,052 (GRCm39) Y84C possibly damaging Het
Tcf7l1 G A 6: 72,609,071 (GRCm39) S297L probably damaging Het
Vmn2r98 G T 17: 19,301,439 (GRCm39) A814S possibly damaging Het
Zfp14 G T 7: 29,738,190 (GRCm39) T265K probably damaging Het
Other mutations in Aurka
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01458:Aurka APN 2 172,210,899 (GRCm39) unclassified probably benign
IGL02338:Aurka APN 2 172,201,778 (GRCm39) missense probably benign 0.00
IGL02894:Aurka APN 2 172,208,868 (GRCm39) splice site probably null
IGL03188:Aurka APN 2 172,205,688 (GRCm39) missense possibly damaging 0.60
G1Funyon:Aurka UTSW 2 172,198,850 (GRCm39) missense probably damaging 0.99
PIT4585001:Aurka UTSW 2 172,199,117 (GRCm39) missense probably benign 0.01
R0006:Aurka UTSW 2 172,201,673 (GRCm39) critical splice donor site probably null
R0006:Aurka UTSW 2 172,201,673 (GRCm39) critical splice donor site probably null
R0458:Aurka UTSW 2 172,212,366 (GRCm39) nonsense probably null
R0555:Aurka UTSW 2 172,209,067 (GRCm39) missense probably benign 0.07
R1130:Aurka UTSW 2 172,199,178 (GRCm39) splice site probably null
R1140:Aurka UTSW 2 172,199,149 (GRCm39) missense probably damaging 1.00
R2507:Aurka UTSW 2 172,212,365 (GRCm39) missense probably benign 0.00
R2889:Aurka UTSW 2 172,209,040 (GRCm39) missense probably benign 0.01
R3772:Aurka UTSW 2 172,208,880 (GRCm39) missense probably benign
R4929:Aurka UTSW 2 172,212,326 (GRCm39) missense probably benign 0.05
R5409:Aurka UTSW 2 172,209,036 (GRCm39) missense possibly damaging 0.78
R6158:Aurka UTSW 2 172,205,516 (GRCm39) critical splice donor site probably null
R6689:Aurka UTSW 2 172,212,313 (GRCm39) critical splice donor site probably null
R6828:Aurka UTSW 2 172,199,172 (GRCm39) missense probably damaging 1.00
R7912:Aurka UTSW 2 172,210,949 (GRCm39) missense probably benign 0.00
R8066:Aurka UTSW 2 172,212,338 (GRCm39) missense probably benign 0.00
R8301:Aurka UTSW 2 172,198,850 (GRCm39) missense probably damaging 0.99
R9764:Aurka UTSW 2 172,201,760 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTATTGAGCCGGGACACAG -3'
(R):5'- CACAATAAGGCAGCTTCAGC -3'

Sequencing Primer
(F):5'- CACAGGCCTAGGAACACTGG -3'
(R):5'- TTGCCTGCATGTAGCCAGAAG -3'
Posted On 2015-01-23