Mutagenetix > Incidental Mutation

Incidental Mutation 'R1686:Bmp2k'

189334

Institutional Source

Beutler Lab

Gene Symbol

Bmp2k

Ensembl Gene

ENSMUSG00000034663

Gene Name

BMP2 inducible kinase

Synonyms

4933417M22Rik, BIKE

MMRRC Submission

039719-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R1686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97145548-97239726 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97211392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 520 (Y520C)

Ref Sequence

ENSEMBL: ENSMUSP00000108598 (fasta)

Gene Model

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

AlphaFold

Q91Z96

Predicted Effect

unknown
Transcript: ENSMUST00000035635
AA Change: Y520C

SMART Domains

Protein: ENSMUSP00000037970
Gene: ENSMUSG00000034663
AA Change: Y520C

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: Y520C

SMART Domains

Protein: ENSMUSP00000108598
Gene: ENSMUSG00000034663
AA Change: Y520C

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

0.1056

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

100% (85/85)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	G	A	10: 100,448,722 (GRCm39)	V400I	probably damaging	Het
Abcb1b	A	G	5: 8,848,782 (GRCm39)	N14S	probably damaging	Het
Adamts14	A	G	10: 61,034,439 (GRCm39)	Y1150H	probably benign	Het
Adgrg3	A	G	8: 95,759,997 (GRCm39)	N72S	probably benign	Het
Akain1	T	A	17: 69,746,527 (GRCm39)	F3I	possibly damaging	Het
Akr1c21	T	C	13: 4,627,452 (GRCm39)	L182P	probably damaging	Het
Arhgap21	A	T	2: 20,886,659 (GRCm39)	Y12N	probably damaging	Het
Aup1	A	T	6: 83,032,226 (GRCm39)	H131L	probably damaging	Het
Bag6	A	G	17: 35,363,928 (GRCm39)	T812A	possibly damaging	Het
Calm4	T	G	13: 3,888,302 (GRCm39)	V136G	probably damaging	Het
Catsper2	A	G	2: 121,230,523 (GRCm39)		probably null	Het
Cc2d2a	A	G	5: 43,896,713 (GRCm39)	T1537A	possibly damaging	Het
Cntn2	A	T	1: 132,454,049 (GRCm39)	V319D	possibly damaging	Het
Cux1	G	A	5: 136,304,235 (GRCm39)	R1314*	probably null	Het
Cxcl12	A	G	6: 117,150,508 (GRCm39)	I79V	probably damaging	Het
Cyp2j6	T	C	4: 96,412,014 (GRCm39)	D418G	probably benign	Het
Ddx28	G	C	8: 106,737,190 (GRCm39)	D289E	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam135a	A	C	1: 24,068,887 (GRCm39)	S448A	probably benign	Het
Fbxo33	G	T	12: 59,251,626 (GRCm39)	N30K	possibly damaging	Het
Fgf12	A	C	16: 28,217,093 (GRCm39)	Y21D	probably damaging	Het
Galntl5	C	T	5: 25,415,432 (GRCm39)	S288L	probably benign	Het
Gart	G	T	16: 91,422,237 (GRCm39)	A760D	probably damaging	Het
Gba2	A	T	4: 43,573,869 (GRCm39)		probably benign	Het
Gm10518	C	A	1: 179,631,357 (GRCm39)	S139*	probably null	Het
Gm4781	A	T	10: 100,232,837 (GRCm39)		noncoding transcript	Het
Gm9790	A	G	3: 85,823,156 (GRCm39)		noncoding transcript	Het
Gmps	G	A	3: 63,893,075 (GRCm39)	G127R	probably damaging	Het
Golim4	A	T	3: 75,802,443 (GRCm39)	V283E	probably benign	Het
Gprc5a	A	T	6: 135,055,918 (GRCm39)	I122F	possibly damaging	Het
Gzmc	T	C	14: 56,471,341 (GRCm39)	K67E	probably benign	Het
Hapln3	C	A	7: 78,771,638 (GRCm39)	V84L	probably benign	Het
Hif3a	T	A	7: 16,778,789 (GRCm39)	N377Y	possibly damaging	Het
Ifi211	G	A	1: 173,726,969 (GRCm39)	H392Y	probably damaging	Het
Iqgap3	T	A	3: 88,015,663 (GRCm39)		probably benign	Het
Itga10	T	A	3: 96,559,141 (GRCm39)	F410Y	probably damaging	Het
Jup	T	C	11: 100,263,260 (GRCm39)	Y705C	probably damaging	Het
Khsrp	C	T	17: 57,332,597 (GRCm39)	A228T	probably benign	Het
Lmntd2	C	T	7: 140,790,998 (GRCm39)	G445D	probably damaging	Het
Lyst	T	C	13: 13,809,290 (GRCm39)	V320A	possibly damaging	Het
Magel2	T	A	7: 62,027,988 (GRCm39)	H297Q	possibly damaging	Het
Mbd6	T	C	10: 127,123,286 (GRCm39)	E33G	probably damaging	Het
Mob3b	A	G	4: 34,985,910 (GRCm39)		probably benign	Het
Mroh2a	T	C	1: 88,162,334 (GRCm39)		probably null	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mymk	A	T	2: 26,952,346 (GRCm39)	W174R	probably damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Nipal3	T	C	4: 135,174,599 (GRCm39)	Y384C	possibly damaging	Het
Nt5c3b	A	G	11: 100,330,920 (GRCm39)		probably benign	Het
Obox6	T	A	7: 15,567,750 (GRCm39)	L232F	probably damaging	Het
Obscn	A	C	11: 58,997,113 (GRCm39)		probably benign	Het
Or7g12	T	C	9: 18,899,839 (GRCm39)	L185P	probably damaging	Het
Phkb	A	G	8: 86,748,278 (GRCm39)	I706V	probably benign	Het
Plcb2	A	G	2: 118,546,168 (GRCm39)		probably benign	Het
Plek2	T	C	12: 78,941,184 (GRCm39)	D216G	probably damaging	Het
Plxnb2	T	C	15: 89,046,665 (GRCm39)	Y855C	probably damaging	Het
Prkcz	T	C	4: 155,355,713 (GRCm39)	T227A	probably damaging	Het
Psma7	A	T	2: 179,679,215 (GRCm39)	D184E	probably benign	Het
Rai14	T	A	15: 10,592,282 (GRCm39)	L204F	probably damaging	Het
Ralgapa2	A	G	2: 146,199,920 (GRCm39)	V1208A	probably benign	Het
Rapgef6	A	G	11: 54,582,458 (GRCm39)	R67G	possibly damaging	Het
Ryr2	C	T	13: 11,618,665 (GRCm39)		probably benign	Het
Satb1	T	C	17: 52,047,027 (GRCm39)	S763G	probably benign	Het
Sdk1	A	T	5: 142,020,292 (GRCm39)	H690L	probably benign	Het
Sfrp5	A	C	19: 42,190,143 (GRCm39)	V103G	possibly damaging	Het
Six6	A	G	12: 72,988,451 (GRCm39)	E208G	probably benign	Het
Sspo	A	T	6: 48,437,334 (GRCm39)	H1364L	probably benign	Het
Stard9	A	T	2: 120,529,973 (GRCm39)	T2077S	probably benign	Het
Tacr3	T	C	3: 134,535,254 (GRCm39)	L74P	probably damaging	Het
Tep1	T	C	14: 51,074,245 (GRCm39)	E1880G	probably benign	Het
Tgfb3	A	T	12: 86,116,517 (GRCm39)		probably benign	Het
Thap7	G	A	16: 17,346,576 (GRCm39)	P136S	probably damaging	Het
Thoc2l	T	A	5: 104,667,789 (GRCm39)	Y770*	probably null	Het
Tmc2	T	C	2: 130,098,036 (GRCm39)	V717A	possibly damaging	Het
Usp43	T	A	11: 67,778,593 (GRCm39)	S446C	probably damaging	Het
Vwa3a	C	T	7: 120,379,371 (GRCm39)	S492L	probably damaging	Het
Wdhd1	T	A	14: 47,493,672 (GRCm39)	N16I	probably damaging	Het
Wdr95	A	T	5: 149,516,566 (GRCm39)	D327V	probably damaging	Het
Zfp128	T	G	7: 12,624,563 (GRCm39)	Y310*	probably null	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
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
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'- TCTGGCACTGGAAGGCATGGATA -3'
(R):5'- CATCCCTCATTAAGTAACGTGAGCCAA -3'

Sequencing Primer
(F):5'- agagaccatcaccaaggaaac -3'
(R):5'- gccagcaaaccccagag -3'

Posted On

2014-05-14