Mutagenetix > Incidental Mutation

Incidental Mutation 'R0284:Bmp2k'

24603

Institutional Source

Beutler Lab

Gene Symbol

Bmp2k

Ensembl Gene

ENSMUSG00000034663

Gene Name

BMP2 inducible kinase

Synonyms

4933417M22Rik, BIKE

MMRRC Submission

038505-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R0284 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97145548-97239726 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97216314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 604 (H604L)

Ref Sequence

ENSEMBL: ENSMUSP00000108598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035635] [ENSMUST00000112974]

AlphaFold

Q91Z96

Predicted Effect

unknown
Transcript: ENSMUST00000035635
AA Change: H604L

SMART Domains

Protein: ENSMUSP00000037970
Gene: ENSMUSG00000034663
AA Change: H604L

Domain	Start	End	E-Value	Type
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: H604L

SMART Domains

Protein: ENSMUSP00000108598
Gene: ENSMUSG00000034663
AA Change: H604L

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.4%

Validation Efficiency

100% (61/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh6	A	G	7: 30,013,413 (GRCm39)	T161A	probably benign	Het
Alox12e	A	G	11: 70,211,725 (GRCm39)		probably benign	Het
Ap1g2	A	G	14: 55,339,149 (GRCm39)		probably benign	Het
Arid2	A	T	15: 96,276,848 (GRCm39)		probably benign	Het
Cacna1a	A	T	8: 85,338,914 (GRCm39)	M1705L	probably damaging	Het
Cacna1d	A	T	14: 29,794,062 (GRCm39)	D1526E	probably damaging	Het
Ccdc171	A	G	4: 83,467,975 (GRCm39)	R107G	possibly damaging	Het
Cklf	T	C	8: 104,988,207 (GRCm39)		probably benign	Het
Crabp1	A	G	9: 54,672,210 (GRCm39)	K9E	probably benign	Het
Cspg4	A	G	9: 56,793,423 (GRCm39)	D386G	probably damaging	Het
Cyp3a41b	G	A	5: 145,515,014 (GRCm39)		probably benign	Het
Dsg1a	T	A	18: 20,464,684 (GRCm39)	V393E	probably damaging	Het
Ednrb	C	T	14: 104,057,449 (GRCm39)	G371D	probably damaging	Het
Efcab5	T	C	11: 76,994,353 (GRCm39)		probably benign	Het
Exoc2	A	T	13: 31,061,608 (GRCm39)		probably benign	Het
Fbn2	G	A	18: 58,183,362 (GRCm39)		probably benign	Het
Foxo6	T	C	4: 120,126,199 (GRCm39)	S199G	probably benign	Het
Fpr1	T	A	17: 18,097,618 (GRCm39)	I124F	probably damaging	Het
Gk5	A	T	9: 96,063,823 (GRCm39)		probably null	Het
Gys1	A	T	7: 45,086,143 (GRCm39)		probably benign	Het
Igfbp1	T	C	11: 7,148,103 (GRCm39)	S49P	probably damaging	Het
Incenp	A	T	19: 9,871,357 (GRCm39)	S91T	unknown	Het
Itpkc	G	A	7: 26,913,968 (GRCm39)	R498*	probably null	Het
Kat6a	A	G	8: 23,429,819 (GRCm39)	T1725A	unknown	Het
Kiz	T	A	2: 146,705,730 (GRCm39)	C97S	probably benign	Het
Kri1	A	G	9: 21,187,848 (GRCm39)		probably benign	Het
Lipn	A	G	19: 34,058,106 (GRCm39)	S276G	possibly damaging	Het
Llgl1	A	G	11: 60,602,967 (GRCm39)	T881A	probably damaging	Het
Man1a2	T	C	3: 100,592,102 (GRCm39)	H26R	probably damaging	Het
Map3k5	T	A	10: 19,876,359 (GRCm39)	F173I	probably damaging	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mipol1	A	G	12: 57,503,855 (GRCm39)	Q341R	probably damaging	Het
Mllt6	G	T	11: 97,569,431 (GRCm39)	A928S	probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nipsnap3a	C	T	4: 52,997,178 (GRCm39)	T150I	probably benign	Het
Nsl1	A	G	1: 190,797,427 (GRCm39)	E97G	probably damaging	Het
Or11j4	G	A	14: 50,630,452 (GRCm39)	V80M	probably damaging	Het
Or4f54	T	C	2: 111,122,931 (GRCm39)	V106A	probably benign	Het
Or7g18	A	T	9: 18,786,848 (GRCm39)	Y72F	probably benign	Het
Or8c11	G	A	9: 38,289,880 (GRCm39)	M234I	probably benign	Het
Pakap	T	C	4: 57,855,207 (GRCm39)	F220L	probably damaging	Het
Pdcd6ip	A	G	9: 113,491,572 (GRCm39)	L552S	probably damaging	Het
Plekhf2	T	C	4: 10,990,595 (GRCm39)		probably benign	Het
Prdm1	T	C	10: 44,332,622 (GRCm39)	E96G	probably damaging	Het
Prpf40a	T	A	2: 53,040,659 (GRCm39)	E608D	probably damaging	Het
Prpf40b	A	T	15: 99,214,274 (GRCm39)		probably benign	Het
Rag2	T	C	2: 101,460,464 (GRCm39)	V258A	probably damaging	Het
S100a5	A	G	3: 90,518,881 (GRCm39)	I68V	probably benign	Het
Serpinb8	G	A	1: 107,530,648 (GRCm39)		probably null	Het
Slc24a4	T	C	12: 102,226,740 (GRCm39)	V492A	probably damaging	Het
Spag6l	T	A	16: 16,598,630 (GRCm39)	Q287L	probably damaging	Het
Spmip6	T	G	4: 41,507,538 (GRCm39)	E150A	probably damaging	Het
Synpo2	C	T	3: 122,873,383 (GRCm39)	W211*	probably null	Het
Tgtp1	A	G	11: 48,877,970 (GRCm39)	V245A	probably benign	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Trerf1	A	G	17: 47,630,471 (GRCm39)		noncoding transcript	Het
Ttn	G	C	2: 76,677,048 (GRCm39)		probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vps13d	A	T	4: 144,871,372 (GRCm39)	M1900K	probably benign	Het
Vps41	A	T	13: 19,037,610 (GRCm39)	D691V	probably damaging	Het
Zfp518b	T	C	5: 38,829,083 (GRCm39)	Y974C	probably damaging	Het
Zscan29	A	T	2: 120,997,214 (GRCm39)		probably benign	Het

Other mutations in Bmp2k

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- AGGAGCACACTAGCGTGCAGTTAC -3'
(R):5'- GACACCACCTCTAACAGTCTTTGGC -3'

Sequencing Primer
(F):5'- gcataccaggcaagcattttatc -3'
(R):5'- AACAGTCTTTGGCCTTGCTC -3'

Posted On

2013-04-16