Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02146:Bmp2k'

281785

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 #

IGL02146

Quality Score

Status

Chromosome

Chromosomal Location

97145548-97239726 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97212689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 524 (M524K)

Ref Sequence

ENSEMBL: ENSMUSP00000108598 (fasta)

Gene Model

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

AlphaFold

Q91Z96

Predicted Effect

unknown
Transcript: ENSMUST00000035635
AA Change: M524K

SMART Domains

Protein: ENSMUSP00000037970
Gene: ENSMUSG00000034663
AA Change: M524K

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: M524K

SMART Domains

Protein: ENSMUSP00000108598
Gene: ENSMUSG00000034663
AA Change: M524K

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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,164,023 (GRCm39)	C784R	possibly damaging	Het
Akp3	A	T	1: 87,054,297 (GRCm39)	D278V	probably benign	Het
Atxn7l1	G	T	12: 33,418,030 (GRCm39)	R730S	probably benign	Het
Bag6	A	G	17: 35,355,191 (GRCm39)	T30A	probably damaging	Het
Blk	G	T	14: 63,611,648 (GRCm39)	P429H	probably damaging	Het
Bst1	T	A	5: 43,983,678 (GRCm39)	H221Q	probably damaging	Het
Ces2g	T	C	8: 105,693,576 (GRCm39)	I419T	possibly damaging	Het
Cnep1r1	T	C	8: 88,856,326 (GRCm39)	V34A	probably benign	Het
Ctnnbl1	A	G	2: 157,661,414 (GRCm39)	E308G	probably damaging	Het
Cyp20a1	A	T	1: 60,410,410 (GRCm39)	K237I	possibly damaging	Het
Dlg5	T	C	14: 24,252,429 (GRCm39)	T104A	probably damaging	Het
Dnaaf11	C	T	15: 66,361,374 (GRCm39)	W42*	probably null	Het
Dnaaf11	C	A	15: 66,361,375 (GRCm39)	W42L	probably benign	Het
Dnah9	C	T	11: 65,818,526 (GRCm39)	V3271M	probably damaging	Het
Eed	T	A	7: 89,618,803 (GRCm39)	N204Y	possibly damaging	Het
Fat3	A	G	9: 15,910,878 (GRCm39)	V1708A	probably benign	Het
Fcrl6	T	C	1: 172,426,264 (GRCm39)	T178A	probably benign	Het
Galnt4	A	C	10: 98,945,563 (GRCm39)	K429N	possibly damaging	Het
Ints6	T	A	14: 62,996,709 (GRCm39)	T94S	possibly damaging	Het
Iqsec3	A	T	6: 121,360,916 (GRCm39)	S981T	probably damaging	Het
Itga9	T	A	9: 118,663,400 (GRCm39)	S146T	possibly damaging	Het
Itpr3	A	G	17: 27,336,249 (GRCm39)	Y2325C	probably damaging	Het
Kng2	T	A	16: 22,806,582 (GRCm39)	Q539L	probably damaging	Het
Lmtk3	T	A	7: 45,444,371 (GRCm39)		probably benign	Het
Map1a	T	C	2: 121,129,927 (GRCm39)	Y248H	probably damaging	Het
Mroh1	A	G	15: 76,318,879 (GRCm39)		probably benign	Het
Mroh2b	T	C	15: 4,980,776 (GRCm39)		probably null	Het
Myo18b	A	T	5: 112,991,151 (GRCm39)	M942K	probably damaging	Het
Myzap	T	A	9: 71,471,730 (GRCm39)	T94S	probably benign	Het
Nebl	C	A	2: 17,353,679 (GRCm39)	R957S	probably damaging	Het
Nexn	A	T	3: 151,952,885 (GRCm39)	D278E	probably benign	Het
Nlgn1	A	T	3: 25,966,846 (GRCm39)	N222K	probably damaging	Het
Or6c76	T	A	10: 129,612,727 (GRCm39)		probably benign	Het
Or8d1	G	A	9: 38,766,654 (GRCm39)	A99T	probably benign	Het
Osbpl6	A	T	2: 76,380,094 (GRCm39)	R79S	possibly damaging	Het
Phip	T	C	9: 82,763,771 (GRCm39)	I1268M	probably benign	Het
Pkd2	G	T	5: 104,637,157 (GRCm39)	R590L	probably damaging	Het
Reg2	G	A	6: 78,382,568 (GRCm39)		probably benign	Het
Scaf1	A	T	7: 44,662,934 (GRCm39)	D26E	probably damaging	Het
Ska1	A	G	18: 74,329,981 (GRCm39)	I253T	possibly damaging	Het
Slc11a2	T	C	15: 100,299,169 (GRCm39)	N443D	probably damaging	Het
Slc6a12	A	T	6: 121,330,460 (GRCm39)	T155S	probably benign	Het
Slit3	A	G	11: 35,125,675 (GRCm39)	K118R	possibly damaging	Het
Snap23	T	G	2: 120,429,792 (GRCm39)	N212K	probably damaging	Het
Snx13	T	A	12: 35,151,078 (GRCm39)	D346E	probably benign	Het
Sumf1	C	A	6: 108,150,392 (GRCm39)		probably null	Het
Susd2	T	C	10: 75,474,267 (GRCm39)	N479S	possibly damaging	Het
Tiam1	A	G	16: 89,646,569 (GRCm39)	I821T	probably benign	Het
Tll2	C	A	19: 41,086,276 (GRCm39)	V651L	probably benign	Het
Vmn2r1	A	G	3: 64,012,104 (GRCm39)	D655G	probably benign	Het
Vmn2r72	T	C	7: 85,387,170 (GRCm39)	Y798C	probably damaging	Het
Vps13b	A	C	15: 35,646,479 (GRCm39)	I1528L	probably benign	Het
Wdtc1	G	A	4: 133,029,076 (GRCm39)	L337F	probably benign	Het
Zfp128	A	C	7: 12,623,959 (GRCm39)	K109T	possibly damaging	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
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

2015-04-16