Incidental Mutation 'R7267:Bmp2k'
ID 564987
Institutional Source Beutler Lab
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 # R7267 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 97145548-97239726 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 97216293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 597 (T597I)
Ref Sequence ENSEMBL: ENSMUSP00000037970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035635] [ENSMUST00000112974]
AlphaFold Q91Z96
Predicted Effect unknown
Transcript: ENSMUST00000035635
AA Change: T597I
SMART Domains Protein: ENSMUSP00000037970
Gene: ENSMUSG00000034663
AA Change: T597I

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 unknown
Transcript: ENSMUST00000112974
AA Change: T597I
SMART Domains Protein: ENSMUSP00000108598
Gene: ENSMUSG00000034663
AA Change: T597I

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,916,205 (GRCm39) I37T probably damaging Het
Ackr2 A G 9: 121,737,874 (GRCm39) Y83C probably damaging Het
Adam19 C T 11: 46,012,403 (GRCm39) Q300* probably null Het
Anxa7 C T 14: 20,519,474 (GRCm39) A115T probably benign Het
Aoc1l3 AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC AGGCCCAGCC 6: 48,964,952 (GRCm39) probably benign Het
Atad2b A T 12: 5,077,105 (GRCm39) R1109* probably null Het
Batf2 A G 19: 6,221,396 (GRCm39) T69A probably benign Het
Best1 A G 19: 9,964,177 (GRCm39) C428R probably benign Het
Birc6 A G 17: 74,892,980 (GRCm39) T973A probably benign Het
Bmpr1a G A 14: 34,165,836 (GRCm39) P57L possibly damaging Het
Camk2d A T 3: 126,591,379 (GRCm39) H283L possibly damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Ces1b C A 8: 93,806,132 (GRCm39) K36N possibly damaging Het
Ces2a T A 8: 105,465,672 (GRCm39) M308K probably benign Het
Ctnnd2 C A 15: 30,683,501 (GRCm39) Q501K probably benign Het
Cyb561d1 T C 3: 108,106,629 (GRCm39) T197A probably benign Het
Dedd2 C A 7: 24,918,391 (GRCm39) A55S probably damaging Het
Dnah2 C T 11: 69,391,643 (GRCm39) R684Q probably damaging Het
Elovl3 A G 19: 46,122,979 (GRCm39) Y185C probably damaging Het
Fgf3 C T 7: 144,392,569 (GRCm39) A42V probably damaging Het
Gabra5 A G 7: 57,140,529 (GRCm39) L56P probably damaging Het
Gm19410 T G 8: 36,281,997 (GRCm39) V1860G possibly damaging Het
Gm21663 G T 5: 26,143,751 (GRCm39) N190K probably damaging Het
Grm3 T A 5: 9,639,581 (GRCm39) I155L probably benign Het
Hadha A G 5: 30,327,755 (GRCm39) I495T probably damaging Het
Herc4 C T 10: 63,109,365 (GRCm39) A200V possibly damaging Het
Itga3 C A 11: 94,967,188 (GRCm39) probably benign Het
Krt6a C T 15: 101,602,289 (GRCm39) S132N probably benign Het
Lpar1 T C 4: 58,486,857 (GRCm39) N138S possibly damaging Het
Lrrc42 T A 4: 107,096,983 (GRCm39) T247S probably damaging Het
Man2b1 T A 8: 85,813,804 (GRCm39) V256E probably damaging Het
Map3k4 G T 17: 12,490,536 (GRCm39) Y298* probably null Het
Mars1 A G 10: 127,144,455 (GRCm39) V195A probably benign Het
Mdm4 A T 1: 132,922,311 (GRCm39) V278E probably benign Het
Mdp1 A G 14: 55,897,544 (GRCm39) V37A probably damaging Het
Med13 A G 11: 86,199,652 (GRCm39) I685T probably benign Het
Mobp A G 9: 119,996,914 (GRCm39) N15S probably damaging Het
Nbn T A 4: 15,979,320 (GRCm39) M435K probably benign Het
Nfs1 A G 2: 155,965,703 (GRCm39) V126A probably benign Het
Npepl1 T A 2: 173,963,909 (GRCm39) V480E probably damaging Het
Nr2e3 G A 9: 59,855,972 (GRCm39) S155F possibly damaging Het
Oplah T C 15: 76,189,209 (GRCm39) D278G probably benign Het
Or4c124 A T 2: 89,156,157 (GRCm39) Y122* probably null Het
Or51q1c A G 7: 103,653,046 (GRCm39) H188R probably benign Het
Pard3 T C 8: 128,098,056 (GRCm39) Y366H probably damaging Het
Pcdhb11 A G 18: 37,555,006 (GRCm39) N112S possibly damaging Het
Pde11a A G 2: 76,168,189 (GRCm39) S255P probably damaging Het
Piezo1 T C 8: 123,224,268 (GRCm39) H745R Het
Pkn2 A T 3: 142,517,776 (GRCm39) S441T possibly damaging Het
Pld1 A C 3: 28,130,550 (GRCm39) H450P probably damaging Het
Plekhs1 T A 19: 56,459,209 (GRCm39) H22Q probably damaging Het
Prss44 A C 9: 110,645,611 (GRCm39) Y285S probably damaging Het
Qpctl T C 7: 18,878,852 (GRCm39) E249G probably benign Het
Rcsd1 A T 1: 165,491,185 (GRCm39) S50T probably damaging Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Scube1 T A 15: 83,505,266 (GRCm39) N496Y probably damaging Het
Skic3 A G 13: 76,328,196 (GRCm39) M1415V probably benign Het
Slc16a8 AGGCC A 15: 79,136,125 (GRCm39) probably null Het
Slc38a4 T A 15: 96,903,781 (GRCm39) T407S probably benign Het
Slc51a T G 16: 32,298,590 (GRCm39) I56L probably benign Het
Slc6a18 T G 13: 73,819,755 (GRCm39) I272L probably damaging Het
Sorl1 A G 9: 42,035,375 (GRCm39) L12P possibly damaging Het
Sycp2l A T 13: 41,300,070 (GRCm39) D428V possibly damaging Het
Syne1 C T 10: 5,178,218 (GRCm39) R4752Q probably damaging Het
Tbc1d9 C A 8: 83,997,957 (GRCm39) H1171Q probably damaging Het
Thsd1 G A 8: 22,733,597 (GRCm39) V215I probably benign Het
Tmem143 T A 7: 45,557,598 (GRCm39) M208K probably benign Het
Tmem63b C T 17: 45,977,048 (GRCm39) V440I probably benign Het
Tnik A T 3: 28,700,776 (GRCm39) S918C probably damaging Het
Ttn A G 2: 76,733,751 (GRCm39) I4508T unknown Het
Vav2 A G 2: 27,173,334 (GRCm39) F497L probably damaging Het
Zc3h14 G A 12: 98,751,988 (GRCm39) R730Q probably damaging Het
Zfp560 G A 9: 20,259,384 (GRCm39) H493Y probably damaging Het
Other mutations in Bmp2k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00541:Bmp2k APN 5 97,211,407 (GRCm39) splice site probably null
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
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
Predicted Primers PCR Primer
(F):5'- GGTCTGTCCAACCTGTACTC -3'
(R):5'- ACCACCTCTAACAGTCTTTGG -3'

Sequencing Primer
(F):5'- ACATACTATGTAGCTCAGGTTGGCC -3'
(R):5'- GGCCTTGCTCAACTATATAGCTG -3'
Posted On 2019-06-26