Incidental Mutation 'R4975:Bmp2k'
ID 382565
Institutional Source Beutler Lab
Gene Symbol Bmp2k
Ensembl Gene ENSMUSG00000034663
Gene Name BMP2 inducible kinase
Synonyms 4933417M22Rik, BIKE
MMRRC Submission 042570-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # R4975 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 97145548-97239726 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) A to G at 97234944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108593 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035635] [ENSMUST00000069453] [ENSMUST00000112969]
AlphaFold Q91Z96
Predicted Effect unknown
Transcript: ENSMUST00000035635
AA Change: H789R
SMART Domains Protein: ENSMUSP00000037970
Gene: ENSMUSG00000034663
AA Change: H789R

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
Meta Mutation Damage Score 0.0718 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 92.8%
Validation Efficiency 100% (81/81)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A C 3: 59,840,161 (GRCm39) T78P probably damaging Het
Abcc8 T C 7: 45,800,291 (GRCm39) K497R probably damaging Het
Aldh1a3 C T 7: 66,068,927 (GRCm39) R19Q possibly damaging Het
Ccni A T 5: 93,335,553 (GRCm39) L195Q possibly damaging Het
Cdkl4 C A 17: 80,832,764 (GRCm39) G327* probably null Het
Cdsn T C 17: 35,866,326 (GRCm39) V285A possibly damaging Het
Cfap20dc A G 14: 8,518,736 (GRCm38) V240A probably benign Het
Chtf18 T C 17: 25,943,540 (GRCm39) E352G possibly damaging Het
Clasp2 T A 9: 113,732,984 (GRCm39) I961N probably damaging Het
Cpsf2 A G 12: 101,949,752 (GRCm39) Q128R probably damaging Het
Cttnbp2 C A 6: 18,406,525 (GRCm39) Q1055H possibly damaging Het
Cyld T G 8: 89,433,860 (GRCm39) F216L probably benign Het
Cyp3a41a A G 5: 145,656,858 (GRCm39) M1T probably null Het
Disp3 C T 4: 148,328,673 (GRCm39) R1097H possibly damaging Het
Dmap1 T C 4: 117,538,233 (GRCm39) D67G possibly damaging Het
Dnah8 T C 17: 30,875,959 (GRCm39) F529L probably benign Het
Ergic3 T C 2: 155,859,638 (GRCm39) probably null Het
Fkbp14 A G 6: 54,569,943 (GRCm39) I29T probably benign Het
Gm4845 T A 1: 141,184,623 (GRCm39) noncoding transcript Het
Gm7135 A T 1: 97,281,801 (GRCm39) noncoding transcript Het
Gpbar1 TACCAC TAC 1: 74,318,704 (GRCm39) probably benign Het
Gtf2ird1 T A 5: 134,424,481 (GRCm39) I57F probably damaging Het
Hectd1 A G 12: 51,809,280 (GRCm39) V1722A probably benign Het
Hmcn2 A G 2: 31,283,037 (GRCm39) D1971G possibly damaging Het
Il21 C A 3: 37,286,653 (GRCm39) S21I probably damaging Het
Itih4 T A 14: 30,614,244 (GRCm39) I398N probably damaging Het
Kansl1 A T 11: 104,226,390 (GRCm39) S922R probably damaging Het
Krt27 G A 11: 99,237,722 (GRCm39) Q339* probably null Het
Lama1 C A 17: 68,045,829 (GRCm39) L245I possibly damaging Het
Lmo2 T A 2: 103,806,488 (GRCm39) C60* probably null Het
Med16 A G 10: 79,738,839 (GRCm39) S316P possibly damaging Het
Mia3 T C 1: 183,111,970 (GRCm39) N529S probably benign Het
Msi2 T C 11: 88,285,481 (GRCm39) K188E probably damaging Het
Myh7 T C 14: 55,209,128 (GRCm39) K1870R probably damaging Het
Nhlrc1 A G 13: 47,167,216 (GRCm39) V347A probably benign Het
Nol6 C T 4: 41,120,167 (GRCm39) R487H probably benign Het
Or4c117 T C 2: 88,955,682 (GRCm39) Y131C probably damaging Het
Or4k41 T C 2: 111,280,028 (GRCm39) I181T probably benign Het
Or52h1 A T 7: 103,828,736 (GRCm39) V293D probably damaging Het
Or5d18 T C 2: 87,865,005 (GRCm39) I159M probably benign Het
Or6c205 T C 10: 129,087,141 (GRCm39) I246T probably damaging Het
Otog T C 7: 45,937,415 (GRCm39) V1708A probably benign Het
Ptprv A G 1: 135,046,586 (GRCm39) noncoding transcript Het
Pus7l A G 15: 94,427,369 (GRCm39) V471A possibly damaging Het
Rab11fip4 A G 11: 79,510,497 (GRCm39) R68G probably damaging Het
Ralgapb A G 2: 158,277,428 (GRCm39) D264G possibly damaging Het
Reln A G 5: 22,165,424 (GRCm39) S2045P probably damaging Het
Rgs22 A C 15: 36,055,022 (GRCm39) Y593* probably null Het
Ror2 C T 13: 53,285,954 (GRCm39) D87N probably damaging Het
Rps6ka4 A T 19: 6,817,678 (GRCm39) probably null Het
Rttn T A 18: 89,082,209 (GRCm39) probably null Het
Runx3 A G 4: 134,898,446 (GRCm39) T206A probably benign Het
Setx A G 2: 29,054,562 (GRCm39) E2158G probably damaging Het
Siglece C T 7: 43,308,396 (GRCm39) probably null Het
Slco1a8 T C 6: 141,926,599 (GRCm39) S576G probably benign Het
Snx1 A T 9: 66,012,187 (GRCm39) L96* probably null Het
Srrm1 A G 4: 135,074,031 (GRCm39) probably benign Het
Stk39 A T 2: 68,051,336 (GRCm39) probably benign Het
Sun3 G A 11: 8,988,311 (GRCm39) R4* probably null Het
Svil A G 18: 5,054,025 (GRCm39) K347E possibly damaging Het
Sybu T A 15: 44,541,063 (GRCm39) E333V probably damaging Het
Tet2 A G 3: 133,192,520 (GRCm39) probably benign Het
Tfip11 G T 5: 112,483,613 (GRCm39) probably benign Het
Tmc1 A C 19: 20,884,319 (GRCm39) D40E probably damaging Het
Twf2 G T 9: 106,089,539 (GRCm39) G121W probably damaging Het
Vpreb3 A G 10: 75,775,636 (GRCm39) V50A probably damaging Het
Vps8 T A 16: 21,285,219 (GRCm39) L400Q probably damaging Het
Xylt1 A T 7: 117,266,565 (GRCm39) Y861F probably damaging Het
Zfp608 T G 18: 55,022,962 (GRCm39) T1485P probably damaging Het
Zfp619 T G 7: 39,186,504 (GRCm39) S845A possibly damaging Het
Zscan4d A T 7: 10,899,274 (GRCm39) M1K probably null 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
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
Predicted Primers PCR Primer
(F):5'- TGTAAAGATCAGCGAGCCGG -3'
(R):5'- TGGGACAGGTTCTTCCCATC -3'

Sequencing Primer
(F):5'- CTCCGAGAATCCCGTAATTAGGG -3'
(R):5'- CTCTGTGCTGCAGGCTCTG -3'
Posted On 2016-04-27