Mutagenetix > Incidental Mutation

Incidental Mutation 'R3919:Bmp2k'

306884

Institutional Source

Beutler Lab

Gene Symbol

Bmp2k

Ensembl Gene

ENSMUSG00000034663

Gene Name

BMP2 inducible kinase

Synonyms

4933417M22Rik, BIKE

MMRRC Submission

040817-MU

Accession Numbers

Genbank: NM_080708; MGI: 2155456

Is this an essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R3919 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96997689-97091867 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97074740 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 674 (S674P)

Ref Sequence

ENSEMBL: ENSMUSP00000037970 (fasta)

Gene Model

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

AlphaFold

Q91Z96

Predicted Effect

unknown
Transcript: ENSMUST00000035635
AA Change: S674P

SMART Domains

Protein: ENSMUSP00000037970
Gene: ENSMUSG00000034663
AA Change: S674P

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

Meta Mutation Damage Score

0.0621

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (49/50)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028J19Rik	G	T	7: 44,230,428		probably benign	Het
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
Abcb5	A	G	12: 118,890,618	M854T	possibly damaging	Het
Akap9	T	A	5: 3,961,764	Y822*	probably null	Het
Apoe	T	C	7: 19,696,547	T257A	probably benign	Het
Atm	C	A	9: 53,492,278	A1365S	probably benign	Het
Cd177	T	C	7: 24,744,433	S747G	probably benign	Het
Cdk5rap2	A	G	4: 70,380,223	F91L	possibly damaging	Het
Chil4	A	T	3: 106,202,532	N388K	probably benign	Het
Dnah3	G	A	7: 119,951,080	L3328F	probably damaging	Het
Dysf	G	A	6: 84,186,509		probably null	Het
Ercc5	C	A	1: 44,161,931	T217K	probably damaging	Het
Esyt1	T	A	10: 128,521,036		probably benign	Het
Ifih1	C	A	2: 62,623,501		probably benign	Het
Ints12	A	T	3: 133,100,683	T124S	probably benign	Het
Kdm5d	T	C	Y: 939,914	L1022P	probably damaging	Het
Lama2	T	A	10: 27,118,505	N1803Y	probably damaging	Het
Lpcat2	C	T	8: 92,914,274	T449I	probably damaging	Het
Ly6c2	A	T	15: 75,108,764		probably null	Het
Mast3	T	C	8: 70,779,422	K1304E	probably benign	Het
Mdm4	T	C	1: 132,994,568	K279E	possibly damaging	Het
Mest	G	A	6: 30,742,750	S132N	probably benign	Het
Mras	T	A	9: 99,411,420	I56F	probably damaging	Het
Mrgprb1	T	C	7: 48,448,081	K28E	probably benign	Het
Myrip	G	A	9: 120,432,629	G436D	probably damaging	Het
Nr2e3	T	A	9: 59,943,440	T379S	probably damaging	Het
Olfr1065	A	G	2: 86,445,418	V188A	probably benign	Het
Plscr3	T	A	11: 69,847,410		probably benign	Het
Pola1	C	A	X: 93,461,472	R1313L	probably benign	Het
Ppt2	T	C	17: 34,622,923	N213S	probably damaging	Het
Prelid2	T	A	18: 41,937,675	D31V	possibly damaging	Het
Psmb9	C	T	17: 34,183,614		probably null	Het
Rec8	A	G	14: 55,621,259	T164A	probably benign	Het
Rnf103	G	A	6: 71,510,347	R654Q	probably benign	Het
Setdb2	T	A	14: 59,419,167	I250F	probably damaging	Het
Slurp1	A	T	15: 74,726,810	*111K	probably null	Het
Sphkap	T	G	1: 83,276,458	E903A	probably damaging	Het
Sst	T	C	16: 23,889,841	D80G	possibly damaging	Het
Stat4	C	T	1: 52,096,822	T430I	possibly damaging	Het
Tmprss4	C	T	9: 45,180,666	V174M	probably benign	Het
Trim6	A	T	7: 104,232,850	Y436F	probably damaging	Het
Ttc28	C	A	5: 111,285,379	A2093E	possibly damaging	Het
Vav3	A	G	3: 109,527,538	N462D	possibly damaging	Het
Whrn	G	T	4: 63,495,184	S17*	probably null	Het
Zfhx4	T	A	3: 5,399,115	S1469R	possibly damaging	Het
Zfp108	T	A	7: 24,260,832	C283S	probably damaging	Het

Other mutations in Bmp2k

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00541:Bmp2k	APN	5	97063548	splice site	probably null
IGL01408:Bmp2k	APN	5	97086964	nonsense	probably null
IGL02146:Bmp2k	APN	5	97064830	missense	unknown
IGL02232:Bmp2k	APN	5	97031250	splice site	probably benign
3-1:Bmp2k	UTSW	5	97053120	missense	possibly damaging	0.68
R0277:Bmp2k	UTSW	5	97087823	utr 3 prime	probably benign
R0284:Bmp2k	UTSW	5	97068455	missense	unknown
R0323:Bmp2k	UTSW	5	97087823	utr 3 prime	probably benign
R0384:Bmp2k	UTSW	5	97031125	splice site	probably benign
R0726:Bmp2k	UTSW	5	97087494	utr 3 prime	probably benign
R1479:Bmp2k	UTSW	5	97053200	missense	probably benign	0.16
R1686:Bmp2k	UTSW	5	97063533	missense	unknown
R1826:Bmp2k	UTSW	5	97061402	splice site	probably benign
R3842:Bmp2k	UTSW	5	97087151	utr 3 prime	probably benign
R4649:Bmp2k	UTSW	5	97053111	missense	possibly damaging	0.95
R4954:Bmp2k	UTSW	5	97086764	unclassified	probably benign
R4975:Bmp2k	UTSW	5	97087085	utr 3 prime	probably benign
R5001:Bmp2k	UTSW	5	97053142	missense	probably damaging	1.00
R5122:Bmp2k	UTSW	5	97087015	utr 3 prime	probably benign
R5260:Bmp2k	UTSW	5	97087351	utr 3 prime	probably benign
R5516:Bmp2k	UTSW	5	97087453	utr 3 prime	probably benign
R5762:Bmp2k	UTSW	5	97087191	frame shift	probably null
R5807:Bmp2k	UTSW	5	97063494	missense	unknown
R5835:Bmp2k	UTSW	5	97056982	missense	possibly damaging	0.95
R5928:Bmp2k	UTSW	5	97087736	utr 3 prime	probably benign
R6012:Bmp2k	UTSW	5	97063608	splice site	probably null
R6546:Bmp2k	UTSW	5	97088078	missense	probably benign	0.32
R6664:Bmp2k	UTSW	5	97088130	missense	probably benign	0.03
R6962:Bmp2k	UTSW	5	97031238	nonsense	probably null
R7081:Bmp2k	UTSW	5	97064961	missense	unknown
R7267:Bmp2k	UTSW	5	97068434	missense	unknown
R7473:Bmp2k	UTSW	5	97057012	missense	probably benign	0.40
R7498:Bmp2k	UTSW	5	97088119	missense	probably benign	0.03
R7659:Bmp2k	UTSW	5	97074719	missense	unknown
R8331:Bmp2k	UTSW	5	97045069	missense	probably damaging	1.00
R8334:Bmp2k	UTSW	5	97027894	missense	possibly damaging	0.91
R9355:Bmp2k	UTSW	5	97063507	nonsense	probably null
R9627:Bmp2k	UTSW	5	97053169	missense	possibly damaging	0.50
X0026:Bmp2k	UTSW	5	97038533	missense	probably damaging	1.00
Z1177:Bmp2k	UTSW	5	97053156	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AACAGGGCTGTGAATTATGGTTTTC -3'
(R):5'- AAACTGCATTTCCCACTTTGG -3'

Sequencing Primer
(F):5'- GTGAATTATGGTTTTCAAAAAGGCTG -3'
(R):5'- TTTGGCAAACGTACAGCAGC -3'

Posted On

2015-04-17