Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02232:Bmp2k'

285794

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 #

IGL02232

Quality Score

Status

Chromosome

Chromosomal Location

97145548-97239726 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 97179109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108598 (fasta)

Gene Model

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

AlphaFold

Q91Z96

Predicted Effect

probably benign
Transcript: ENSMUST00000035635

SMART Domains

Protein: ENSMUSP00000037970
Gene: ENSMUSG00000034663

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

probably benign
Transcript: ENSMUST00000112974

SMART Domains

Protein: ENSMUSP00000108598
Gene: ENSMUSG00000034663

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810030O07Rik	A	G	X: 12,530,764 (GRCm39)	V199A	possibly damaging	Het
Aco1	T	C	4: 40,175,996 (GRCm39)	M210T	probably damaging	Het
Actr10	G	A	12: 70,990,289 (GRCm39)	E114K	probably benign	Het
Adam6b	T	C	12: 113,454,764 (GRCm39)	M527T	probably benign	Het
Ahi1	C	T	10: 20,857,274 (GRCm39)	T623M	probably damaging	Het
Aldh8a1	T	C	10: 21,271,545 (GRCm39)	W424R	probably damaging	Het
Apeh	A	T	9: 107,969,071 (GRCm39)	S299T	probably benign	Het
Bbs5	A	C	2: 69,485,895 (GRCm39)	I147L	probably benign	Het
C2cd6	A	G	1: 59,101,651 (GRCm39)	F336S	probably damaging	Het
Cd274	T	A	19: 29,359,938 (GRCm39)	L248M	probably damaging	Het
Chsy3	T	A	18: 59,542,383 (GRCm39)	M507K	possibly damaging	Het
Clip2	T	C	5: 134,531,984 (GRCm39)	N572S	probably damaging	Het
Commd9	A	G	2: 101,731,324 (GRCm39)	T170A	probably benign	Het
Cpt1c	G	A	7: 44,609,580 (GRCm39)	S674L	probably damaging	Het
Dhx33	C	A	11: 70,878,030 (GRCm39)	R671L	probably damaging	Het
Dnah5	G	A	15: 28,299,386 (GRCm39)	E1583K	probably damaging	Het
Eed	G	T	7: 89,621,493 (GRCm39)	N51K	probably damaging	Het
Efcab14	A	G	4: 115,617,261 (GRCm39)		probably benign	Het
Ephb2	A	C	4: 136,384,762 (GRCm39)	M884R	probably damaging	Het
Foxn2	G	T	17: 88,770,479 (GRCm39)	A109S	probably benign	Het
Fut1	A	T	7: 45,268,871 (GRCm39)	D220V	probably damaging	Het
Gm6468	C	T	5: 95,429,066 (GRCm39)		noncoding transcript	Het
Gm7964	A	T	7: 83,405,515 (GRCm39)		noncoding transcript	Het
Gm9772	C	T	17: 22,226,031 (GRCm39)		probably benign	Het
Golph3	G	T	15: 12,349,578 (GRCm39)	M199I	probably benign	Het
Itpr1	A	G	6: 108,394,884 (GRCm39)	N1666D	probably damaging	Het
Itprid1	A	G	6: 55,944,922 (GRCm39)	T548A	unknown	Het
Kif12	C	T	4: 63,084,732 (GRCm39)	E529K	probably benign	Het
Lpp	C	T	16: 24,580,895 (GRCm39)	R204W	probably damaging	Het
Lrrc52	T	A	1: 167,293,949 (GRCm39)	N112I	probably damaging	Het
Msi1	T	A	5: 115,579,506 (GRCm39)		probably null	Het
Nasp	T	G	4: 116,461,997 (GRCm39)	E170A	probably damaging	Het
Necab2	T	A	8: 120,189,391 (GRCm39)	V187E	probably damaging	Het
Obscn	T	C	11: 58,929,804 (GRCm39)	E5790G	probably damaging	Het
Or7e176	A	T	9: 20,171,511 (GRCm39)	D125V	probably damaging	Het
Or9a7	A	G	6: 40,520,980 (GRCm39)	L311P	probably damaging	Het
Pard3b	C	T	1: 62,205,541 (GRCm39)	T445I	probably damaging	Het
Pcdh10	A	G	3: 45,335,377 (GRCm39)	I564V	probably benign	Het
Pcdhb22	T	A	18: 37,653,602 (GRCm39)	L690Q	probably damaging	Het
Pemt	T	A	11: 59,867,680 (GRCm39)	T115S	probably damaging	Het
Plcl2	A	G	17: 50,913,669 (GRCm39)	N226S	possibly damaging	Het
Ppp6r1	A	G	7: 4,636,341 (GRCm39)	S750P	probably damaging	Het
Prtg	T	C	9: 72,758,771 (GRCm39)	V375A	probably damaging	Het
Psd3	A	C	8: 68,356,797 (GRCm39)	M673R	probably damaging	Het
Ptprt	T	C	2: 161,372,437 (GRCm39)	I1392V	probably damaging	Het
Rlf	G	A	4: 121,039,811 (GRCm39)	T200I	probably benign	Het
Robo1	G	A	16: 72,768,872 (GRCm39)	G479D	possibly damaging	Het
Rpe65	A	G	3: 159,309,988 (GRCm39)	D87G	possibly damaging	Het
Sema3g	T	C	14: 30,943,181 (GRCm39)	V148A	probably damaging	Het
Sgms2	G	A	3: 131,116,833 (GRCm39)	P341S	probably benign	Het
Skint7	A	T	4: 111,839,225 (GRCm39)	Q173L	possibly damaging	Het
Slc2a9	G	A	5: 38,594,013 (GRCm39)	A150V	probably benign	Het
Slc35c2	A	G	2: 165,124,801 (GRCm39)	L58P	probably damaging	Het
Slc7a6	G	A	8: 106,923,206 (GRCm39)	C495Y	possibly damaging	Het
Smurf1	G	A	5: 144,823,248 (GRCm39)	P458L	probably damaging	Het
Spag1	C	T	15: 36,221,710 (GRCm39)	T601I	probably benign	Het
Spink8	A	T	9: 109,649,665 (GRCm39)	Q49L	possibly damaging	Het
Spout1	A	T	2: 30,065,266 (GRCm39)	Y284N	probably damaging	Het
Srrm1	A	T	4: 135,080,427 (GRCm39)	M1K	probably null	Het
Stxbp5l	A	G	16: 37,150,257 (GRCm39)	L116P	probably damaging	Het
Tlr9	T	C	9: 106,102,136 (GRCm39)	F476L	probably damaging	Het
Tmem41b	A	G	7: 109,577,960 (GRCm39)	V108A	probably damaging	Het
Tra2b	A	G	16: 22,067,790 (GRCm39)		probably benign	Het
Trio	G	T	15: 27,902,647 (GRCm39)	H271Q	probably benign	Het
Ttn	A	G	2: 76,723,263 (GRCm39)		probably benign	Het
Usp51	A	T	X: 151,791,669 (GRCm39)	H421L	probably damaging	Het
Vmn2r29	A	T	7: 7,244,810 (GRCm39)	W355R	probably damaging	Het
Vpreb1a	T	C	16: 16,686,603 (GRCm39)	N96D	possibly damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zp3r	C	A	1: 130,524,404 (GRCm39)	C213F	probably 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
IGL02146:Bmp2k	APN	5	97,212,689 (GRCm39)	missense	unknown
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