Incidental Mutation 'R5001:Bmp2k'
ID 389895
Institutional Source Beutler Lab
Gene Symbol Bmp2k
Ensembl Gene ENSMUSG00000034663
Gene Name BMP2 inducible kinase
Synonyms 4933417M22Rik, BIKE
MMRRC Submission 042595-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # R5001 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 97145548-97239726 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 97201001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 307 (Q307L)
Ref Sequence ENSEMBL: ENSMUSP00000108598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035635] [ENSMUST00000112974]
AlphaFold Q91Z96
Predicted Effect probably damaging
Transcript: ENSMUST00000035635
AA Change: Q307L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037970
Gene: ENSMUSG00000034663
AA Change: Q307L

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 damaging
Transcript: ENSMUST00000112974
AA Change: Q307L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108598
Gene: ENSMUSG00000034663
AA Change: Q307L

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 G A 12: 4,248,434 (GRCm39) V499M possibly damaging Het
Aff4 T C 11: 53,295,184 (GRCm39) S795P probably damaging Het
Ank G A 15: 27,562,819 (GRCm39) V176I probably damaging Het
Ankfn1 A G 11: 89,332,268 (GRCm39) I446T possibly damaging Het
Arhgap33 C A 7: 30,232,441 (GRCm39) S32I possibly damaging Het
Ascc3 T A 10: 50,699,744 (GRCm39) Y1856N probably damaging Het
Atf3 T C 1: 190,909,472 (GRCm39) T66A probably benign Het
Atf7ip T C 6: 136,538,386 (GRCm39) C548R probably damaging Het
Bag6 A G 17: 35,364,152 (GRCm39) T841A probably damaging Het
Bbof1 A T 12: 84,473,630 (GRCm39) Q320L possibly damaging Het
Btaf1 T A 19: 36,964,052 (GRCm39) N874K possibly damaging Het
Calr4 G A 4: 109,096,179 (GRCm39) probably null Het
Camk1d T C 2: 5,317,912 (GRCm39) I248V possibly damaging Het
Ccdc177 G A 12: 80,804,160 (GRCm39) R705C unknown Het
Cdk18 C T 1: 132,046,587 (GRCm39) probably null Het
Cers4 A G 8: 4,565,565 (GRCm39) S4G probably benign Het
Cfap54 A G 10: 92,800,396 (GRCm39) V1604A probably benign Het
Chd8 C T 14: 52,441,372 (GRCm39) G907S probably benign Het
Cilk1 T C 9: 78,038,801 (GRCm39) S17P probably damaging Het
Cnksr3 G A 10: 7,076,746 (GRCm39) Q149* probably null Het
Cntd1 T C 11: 101,176,557 (GRCm39) V218A possibly damaging Het
Cog7 A T 7: 121,549,109 (GRCm39) V384E probably damaging Het
Col5a2 A G 1: 45,542,058 (GRCm39) V6A unknown Het
Col7a1 T C 9: 108,794,146 (GRCm39) probably null Het
Cpsf6 T A 10: 117,203,866 (GRCm39) I29L possibly damaging Het
Cyp3a13 T C 5: 137,897,178 (GRCm39) T379A probably benign Het
Ddx46 T C 13: 55,800,732 (GRCm39) S296P probably damaging Het
Dmbt1 A G 7: 130,651,742 (GRCm39) D328G probably damaging Het
Dnah8 T G 17: 31,006,159 (GRCm39) L3692W probably damaging Het
Dnmt3l A C 10: 77,895,565 (GRCm39) S368R probably null Het
Egfr A G 11: 16,854,434 (GRCm39) K869E probably damaging Het
Ehd1 G A 19: 6,347,724 (GRCm39) M359I probably benign Het
F5 A T 1: 164,023,139 (GRCm39) T1566S probably benign Het
Flrt2 T C 12: 95,745,725 (GRCm39) I21T probably benign Het
Galnt1 T A 18: 24,404,812 (GRCm39) I383K probably benign Het
Ghdc G T 11: 100,657,660 (GRCm39) A523D probably damaging Het
Gm24022 A G 12: 113,393,399 (GRCm39) probably benign Het
Golga3 T C 5: 110,353,643 (GRCm39) S934P probably damaging Het
Gpr135 T A 12: 72,117,282 (GRCm39) T162S probably benign Het
Gucd1 G A 10: 75,353,036 (GRCm39) probably null Het
Hcrtr2 T A 9: 76,137,886 (GRCm39) I410F probably benign Het
Igkv6-15 T C 6: 70,383,633 (GRCm39) Y56C probably damaging Het
Il22ra1 A T 4: 135,460,415 (GRCm39) Y57F probably damaging Het
Irak4 A G 15: 94,456,154 (GRCm39) E247G possibly damaging Het
Kank3 T C 17: 34,040,746 (GRCm39) V13A possibly damaging Het
Klhl1 A T 14: 96,374,046 (GRCm39) S667T probably damaging Het
Klhl6 T G 16: 19,765,741 (GRCm39) *620C probably null Het
Lct A G 1: 128,235,978 (GRCm39) L343P probably damaging Het
Lgr6 G T 1: 134,918,370 (GRCm39) P264T probably benign Het
Lilrb4a T A 10: 51,367,516 (GRCm39) probably null Het
Lin7a G T 10: 107,218,530 (GRCm39) G25* probably null Het
Lmnb2 G A 10: 80,753,946 (GRCm39) T36M probably damaging Het
Manba T C 3: 135,273,391 (GRCm39) F775S probably benign Het
Marchf6 A G 15: 31,465,468 (GRCm39) V812A probably damaging Het
Megf6 T A 4: 154,352,517 (GRCm39) L1292H probably damaging Het
Myo18b T G 5: 112,909,206 (GRCm39) Q1979P probably damaging Het
Myoz1 T C 14: 20,703,769 (GRCm39) M59V probably damaging Het
Naa35 T C 13: 59,773,345 (GRCm39) I100T possibly damaging Het
Nox4 A T 7: 87,010,011 (GRCm39) Y404F probably damaging Het
Ntn1 T C 11: 68,151,358 (GRCm39) Y441C probably damaging Het
Onecut3 A G 10: 80,331,154 (GRCm39) T105A unknown Het
Or10ak8 C A 4: 118,774,440 (GRCm39) V75F probably damaging Het
Or1n1 T C 2: 36,750,082 (GRCm39) T93A probably benign Het
Or4d5 G A 9: 40,012,523 (GRCm39) H88Y probably benign Het
Pabpc1l A G 2: 163,884,438 (GRCm39) S392G probably benign Het
Pan3 T A 5: 147,463,492 (GRCm39) probably null Het
Pcdha4 G A 18: 37,088,001 (GRCm39) S728N probably benign Het
Pds5a T C 5: 65,854,128 (GRCm39) D38G probably damaging Het
Pgm2l1 A G 7: 99,921,583 (GRCm39) I605V probably benign Het
Phip T C 9: 82,778,072 (GRCm39) probably null Het
Pilra T C 5: 137,833,777 (GRCm39) I96M probably damaging Het
Ppig T A 2: 69,571,830 (GRCm39) V183D unknown Het
Ppp2r2a A T 14: 67,259,757 (GRCm39) L313* probably null Het
Ppp4c A G 7: 126,386,709 (GRCm39) F126S probably damaging Het
Ptger2 C A 14: 45,226,824 (GRCm39) R135S probably damaging Het
Rab11fip5 T A 6: 85,324,788 (GRCm39) E506D probably damaging Het
Rdh12 G A 12: 79,259,516 (GRCm39) G133R probably damaging Het
Rims2 A T 15: 39,315,824 (GRCm39) D610V probably benign Het
Saa1 T A 7: 46,390,132 (GRCm39) Y122F probably damaging Het
Septin10 A T 10: 59,012,811 (GRCm39) V269E probably damaging Het
Serpina3n T A 12: 104,374,998 (GRCm39) D23E probably benign Het
Serpinb11 A G 1: 107,304,598 (GRCm39) K188E possibly damaging Het
Slc18a3 C T 14: 32,185,736 (GRCm39) V216M possibly damaging Het
Slc19a3 G T 1: 83,000,341 (GRCm39) N225K probably benign Het
Slc4a1 T A 11: 102,242,329 (GRCm39) I797F probably benign Het
Slx9 A G 10: 77,325,850 (GRCm39) V154A probably benign Het
Spic A G 10: 88,511,761 (GRCm39) M165T possibly damaging Het
Timm44 A T 8: 4,325,886 (GRCm39) M1K probably null Het
Tmc6 A G 11: 117,661,610 (GRCm39) L572P probably benign Het
Tnc G A 4: 63,918,299 (GRCm39) T1204M probably benign Het
Tnc G A 4: 63,902,726 (GRCm39) T1517I probably damaging Het
Trip11 A T 12: 101,851,169 (GRCm39) L680* probably null Het
Trps1 T A 15: 50,524,703 (GRCm39) M887L possibly damaging Het
Tulp3 A C 6: 128,302,031 (GRCm39) V330G probably damaging Het
Upf1 A G 8: 70,787,350 (GRCm39) S835P probably damaging Het
Wdr64 A G 1: 175,620,525 (GRCm39) probably null Het
Yju2b G A 8: 84,985,304 (GRCm39) P322S probably benign Het
Zbtb40 A G 4: 136,723,461 (GRCm39) L643P probably damaging Het
Zc3h18 A T 8: 123,110,259 (GRCm39) D36V 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
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'- CTGCCTCTGTAGTGCATTCATG -3'
(R):5'- TGACACCATCAGGACCACTTG -3'

Sequencing Primer
(F):5'- GCATTCATGCGACAAGTTTGC -3'
(R):5'- CTTGTCAAGAAACAGGTAGCTCTCAG -3'
Posted On 2016-06-06