Incidental Mutation 'IGL01408:Bmp2k'
ID79886
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bmp2k
Ensembl Gene ENSMUSG00000034663
Gene NameBMP2 inducible kinase
Synonyms4933417M22Rik, BIKE
Accession Numbers

Genbank: NM_080708; MGI: 2155456

Is this an essential gene? Possibly non essential (E-score: 0.326) question?
Stock #IGL01408
Quality Score
Status
Chromosome5
Chromosomal Location96997689-97091867 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 97086964 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 749 (Q749*)
Ref Sequence ENSEMBL: ENSMUSP00000037970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035635] [ENSMUST00000069453] [ENSMUST00000112969]
Predicted Effect probably null
Transcript: ENSMUST00000035635
AA Change: Q749*
SMART Domains Protein: ENSMUSP00000037970
Gene: ENSMUSG00000034663
AA Change: Q749*

DomainStartEndE-ValueType
low complexity region 12 37 N/A INTRINSIC
Pfam:Pkinase_Tyr 48 309 8.9e-27 PFAM
Pfam:Pkinase 48 311 1.6e-43 PFAM
coiled coil region 455 490 N/A INTRINSIC
low complexity region 511 538 N/A INTRINSIC
low complexity region 624 636 N/A INTRINSIC
low complexity region 653 664 N/A INTRINSIC
low complexity region 729 753 N/A INTRINSIC
low complexity region 779 794 N/A INTRINSIC
low complexity region 838 852 N/A INTRINSIC
Pfam:BMP2K_C 873 1138 7.9e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069453
SMART Domains Protein: ENSMUSP00000069324
Gene: ENSMUSG00000055725

DomainStartEndE-ValueType
Pfam:HlyIII 64 289 3.4e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112969
SMART Domains Protein: ENSMUSP00000108593
Gene: ENSMUSG00000055725

DomainStartEndE-ValueType
Pfam:HlyIII 64 289 1.4e-51 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is the human homolog of mouse BMP-2-inducible kinase. Bone morphogenic proteins (BMPs) play a key role in skeletal development and patterning. Expression of the mouse gene is increased during BMP-2 induced differentiation and the gene product is a putative serine/threonine protein kinase containing a nuclear localization signal. Therefore, the protein encoded by this human homolog is thought to be a protein kinase with a putative regulatory role in attenuating the program of osteoblast differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530068E07Rik A G 11: 52,403,366 R145G probably damaging Het
Akr1c21 T A 13: 4,577,432 M175K probably benign Het
Apol7a C T 15: 77,389,330 A311T probably damaging Het
Atxn10 G T 15: 85,376,695 E214* probably null Het
Ccdc141 G A 2: 77,045,679 A669V probably benign Het
Cndp2 A C 18: 84,670,911 C249G probably benign Het
Cnr1 A G 4: 33,944,802 I397V possibly damaging Het
Col19a1 T C 1: 24,306,250 probably benign Het
Dbn1 T C 13: 55,482,304 probably benign Het
Dmgdh C T 13: 93,709,295 P486S probably damaging Het
Dpys A G 15: 39,793,306 V455A possibly damaging Het
Farp2 A G 1: 93,618,980 N907S probably benign Het
Fndc3c1 C T X: 106,432,772 E894K probably benign Het
Gm6685 A T 11: 28,339,473 N114K probably damaging Het
Golga3 A T 5: 110,217,809 probably null Het
Grin2c A G 11: 115,260,882 L84P probably damaging Het
Gucy2c A G 6: 136,698,011 F1001L probably benign Het
Hcn4 A G 9: 58,859,886 H910R unknown Het
Kdm4b T C 17: 56,353,518 probably benign Het
Lrrfip2 A G 9: 111,214,216 T497A probably benign Het
Man2c1 A G 9: 57,141,600 Y924C probably damaging Het
Nkain2 T A 10: 32,402,241 T63S probably damaging Het
Nlrp1a T A 11: 71,122,916 T503S probably benign Het
Olfr658 T A 7: 104,644,929 I146F possibly damaging Het
Olfr665 T C 7: 104,880,830 V41A probably benign Het
Pitrm1 T A 13: 6,573,042 C780S probably damaging Het
Plekha5 C T 6: 140,570,316 probably benign Het
Rapgef4 C T 2: 72,174,841 R193* probably null Het
Rbm20 A G 19: 53,851,613 E1011G possibly damaging Het
Rfx3 A T 19: 27,768,650 D685E probably benign Het
Ror1 T C 4: 100,333,787 S114P probably damaging Het
Slc17a6 A G 7: 51,669,115 K502E probably benign Het
Spink2 A T 5: 77,211,327 probably benign Het
Sptb A T 12: 76,613,147 I993N possibly damaging Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Tes A T 6: 17,099,879 Y291F probably damaging Het
Tmtc4 G T 14: 122,925,954 probably benign Het
Trpa1 T C 1: 14,889,413 E683G probably benign Het
Vmn2r73 T C 7: 85,872,247 D171G probably benign Het
Wbp11 A G 6: 136,814,614 probably benign Het
Wfdc12 A G 2: 164,189,661 *86R probably null Het
Zfp281 T C 1: 136,626,115 V277A probably damaging Het
Other mutations in Bmp2k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00541:Bmp2k APN 5 97063548 splice site probably null
IGL02146:Bmp2k APN 5 97064830 missense unknown
IGL02232:Bmp2k APN 5 97031250 splice site probably benign
3-1:Bmp2k UTSW 5 97053120 missense possibly damaging 0.68
R0277:Bmp2k UTSW 5 97087823 utr 3 prime probably benign
R0284:Bmp2k UTSW 5 97068455 missense unknown
R0323:Bmp2k UTSW 5 97087823 utr 3 prime probably benign
R0384:Bmp2k UTSW 5 97031125 splice site probably benign
R0726:Bmp2k UTSW 5 97087494 utr 3 prime probably benign
R1479:Bmp2k UTSW 5 97053200 missense probably benign 0.16
R1686:Bmp2k UTSW 5 97063533 missense unknown
R1826:Bmp2k UTSW 5 97061402 splice site probably benign
R3842:Bmp2k UTSW 5 97087151 utr 3 prime probably benign
R3919:Bmp2k UTSW 5 97074740 missense unknown
R4649:Bmp2k UTSW 5 97053111 missense possibly damaging 0.95
R4954:Bmp2k UTSW 5 97086764 unclassified probably benign
R4975:Bmp2k UTSW 5 97087085 utr 3 prime probably benign
R5001:Bmp2k UTSW 5 97053142 missense probably damaging 1.00
R5122:Bmp2k UTSW 5 97087015 utr 3 prime probably benign
R5260:Bmp2k UTSW 5 97087351 utr 3 prime probably benign
R5516:Bmp2k UTSW 5 97087453 utr 3 prime probably benign
R5762:Bmp2k UTSW 5 97087191 frame shift probably null
R5807:Bmp2k UTSW 5 97063494 missense unknown
R5835:Bmp2k UTSW 5 97056982 missense possibly damaging 0.95
R5928:Bmp2k UTSW 5 97087736 utr 3 prime probably benign
R6012:Bmp2k UTSW 5 97063608 intron probably null
R6546:Bmp2k UTSW 5 97088078 missense probably benign 0.32
R6664:Bmp2k UTSW 5 97088130 missense probably benign 0.03
R6962:Bmp2k UTSW 5 97031238 nonsense probably null
R7081:Bmp2k UTSW 5 97064961 missense unknown
R7267:Bmp2k UTSW 5 97068434 missense unknown
R7473:Bmp2k UTSW 5 97057012 missense probably benign 0.40
R7498:Bmp2k UTSW 5 97088119 missense probably benign 0.03
R7659:Bmp2k UTSW 5 97074719 missense unknown
X0026:Bmp2k UTSW 5 97038533 missense probably damaging 1.00
Z1177:Bmp2k UTSW 5 97053156 missense probably damaging 0.96
Posted On2013-11-05