Incidental Mutation 'IGL00541:Bmp2k'
ID 5584
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bmp2k
Ensembl Gene ENSMUSG00000034663
Gene Name BMP2 inducible kinase
Synonyms 4933417M22Rik, BIKE
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # IGL00541
Quality Score
Status
Chromosome 5
Chromosomal Location 97145548-97239726 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 97211407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035635] [ENSMUST00000112974]
AlphaFold Q91Z96
Predicted Effect probably null
Transcript: ENSMUST00000035635
SMART Domains Protein: ENSMUSP00000037970
Gene: ENSMUSG00000034663

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 null
Transcript: ENSMUST00000112974
SMART Domains Protein: ENSMUSP00000108598
Gene: ENSMUSG00000034663

DomainStartEndE-ValueType
low complexity region 12 37 N/A INTRINSIC
Pfam:Pkinase_Tyr 48 310 5.5e-28 PFAM
Pfam:Pkinase 48 313 5.2e-43 PFAM
Pfam:Kinase-like 128 302 1.2e-7 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
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: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Col6a3 T C 1: 90,729,864 (GRCm39) H1207R possibly damaging Het
Efl1 T C 7: 82,307,319 (GRCm39) S72P probably damaging Het
Fbxw9 A T 8: 85,793,219 (GRCm39) I435F probably damaging Het
Gm9837 G A 11: 53,361,079 (GRCm39) probably benign Het
Lama2 C A 10: 27,064,302 (GRCm39) L1226F probably benign Het
Nbea G A 3: 55,875,510 (GRCm39) P1720L probably benign Het
Pira12 T A 7: 3,900,385 (GRCm39) probably benign Het
Slco1a6 G T 6: 142,042,025 (GRCm39) T517K possibly damaging Het
Sult2a2 T C 7: 13,468,684 (GRCm39) L50P probably damaging Het
Syt9 A T 7: 107,101,387 (GRCm39) N378Y probably null Het
Tchh A G 3: 93,353,557 (GRCm39) E999G unknown Het
Usp9x A G X: 13,007,985 (GRCm39) T1425A probably benign Het
Other mutations in Bmp2k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01408:Bmp2k APN 5 97,234,823 (GRCm39) nonsense probably null
IGL02146:Bmp2k APN 5 97,212,689 (GRCm39) missense unknown
IGL02232:Bmp2k APN 5 97,179,109 (GRCm39) splice site probably benign
3-1:Bmp2k UTSW 5 97,200,979 (GRCm39) missense possibly damaging 0.68
R0277:Bmp2k UTSW 5 97,235,682 (GRCm39) utr 3 prime probably benign
R0284:Bmp2k UTSW 5 97,216,314 (GRCm39) missense unknown
R0323:Bmp2k UTSW 5 97,235,682 (GRCm39) utr 3 prime probably benign
R0384:Bmp2k UTSW 5 97,178,984 (GRCm39) splice site probably benign
R0726:Bmp2k UTSW 5 97,235,353 (GRCm39) utr 3 prime probably benign
R1479:Bmp2k UTSW 5 97,201,059 (GRCm39) missense probably benign 0.16
R1686:Bmp2k UTSW 5 97,211,392 (GRCm39) missense unknown
R1826:Bmp2k UTSW 5 97,209,261 (GRCm39) splice site probably benign
R3842:Bmp2k UTSW 5 97,235,010 (GRCm39) utr 3 prime probably benign
R3919:Bmp2k UTSW 5 97,222,599 (GRCm39) missense unknown
R4649:Bmp2k UTSW 5 97,200,970 (GRCm39) missense possibly damaging 0.95
R4954:Bmp2k UTSW 5 97,234,623 (GRCm39) unclassified probably benign
R4975:Bmp2k UTSW 5 97,234,944 (GRCm39) utr 3 prime probably benign
R5001:Bmp2k UTSW 5 97,201,001 (GRCm39) missense probably damaging 1.00
R5122:Bmp2k UTSW 5 97,234,874 (GRCm39) utr 3 prime probably benign
R5260:Bmp2k UTSW 5 97,235,210 (GRCm39) utr 3 prime probably benign
R5516:Bmp2k UTSW 5 97,235,312 (GRCm39) utr 3 prime probably benign
R5762:Bmp2k UTSW 5 97,235,050 (GRCm39) frame shift probably null
R5807:Bmp2k UTSW 5 97,211,353 (GRCm39) missense unknown
R5835:Bmp2k UTSW 5 97,204,841 (GRCm39) missense possibly damaging 0.95
R5928:Bmp2k UTSW 5 97,235,595 (GRCm39) utr 3 prime probably benign
R6012:Bmp2k UTSW 5 97,211,467 (GRCm39) splice site probably null
R6546:Bmp2k UTSW 5 97,235,937 (GRCm39) missense probably benign 0.32
R6664:Bmp2k UTSW 5 97,235,989 (GRCm39) missense probably benign 0.03
R6962:Bmp2k UTSW 5 97,179,097 (GRCm39) nonsense probably null
R7081:Bmp2k UTSW 5 97,212,820 (GRCm39) missense unknown
R7267:Bmp2k UTSW 5 97,216,293 (GRCm39) missense unknown
R7473:Bmp2k UTSW 5 97,204,871 (GRCm39) missense probably benign 0.40
R7498:Bmp2k UTSW 5 97,235,978 (GRCm39) missense probably benign 0.03
R7659:Bmp2k UTSW 5 97,222,578 (GRCm39) missense unknown
R8331:Bmp2k UTSW 5 97,192,928 (GRCm39) missense probably damaging 1.00
R8334:Bmp2k UTSW 5 97,175,753 (GRCm39) missense possibly damaging 0.91
R9355:Bmp2k UTSW 5 97,211,366 (GRCm39) nonsense probably null
R9627:Bmp2k UTSW 5 97,201,028 (GRCm39) missense possibly damaging 0.50
X0026:Bmp2k UTSW 5 97,186,392 (GRCm39) missense probably damaging 1.00
Z1177:Bmp2k UTSW 5 97,201,015 (GRCm39) missense probably damaging 0.96
Posted On 2012-04-20