Mutagenetix > Incidental Mutation

Incidental Mutation 'R5260:Bmp2k'

401362

Institutional Source

Beutler Lab

Gene Symbol

Bmp2k

Ensembl Gene

ENSMUSG00000034663

Gene Name

BMP2 inducible kinase

Synonyms

4933417M22Rik, BIKE

MMRRC Submission

042829-MU

Accession Numbers

Genbank: NM_080708; MGI: 2155456

Is this an essential gene?

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

Stock #

R5260 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96997689-97091867 bp(+) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to G at 97087351 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108593 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035635] [ENSMUST00000069453] [ENSMUST00000112969]

AlphaFold

Q91Z96

Predicted Effect

unknown
Transcript: ENSMUST00000035635
AA Change: F878V

SMART Domains

Protein: ENSMUSP00000037970
Gene: ENSMUSG00000034663
AA Change: F878V

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: ENSMUST00000069453

SMART Domains

Protein: ENSMUSP00000069324
Gene: ENSMUSG00000055725

Domain	Start	End	E-Value	Type
Pfam:HlyIII	64	289	3.4e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112969

SMART Domains

Protein: ENSMUSP00000108593
Gene: ENSMUSG00000055725

Domain	Start	End	E-Value	Type
Pfam:HlyIII	64	289	1.4e-51	PFAM

Meta Mutation Damage Score

0.2185

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (77/78)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	A	T	1: 93,159,978	V51E	probably damaging	Het
Abraxas2	A	T	7: 132,859,274	I14F	probably damaging	Het
Acin1	T	C	14: 54,642,822		probably benign	Het
Adamts9	C	A	6: 92,807,137	V1579L	probably benign	Het
Adra2a	T	A	19: 54,046,608	C132S	probably damaging	Het
Aif1	T	A	17: 35,171,941		probably null	Het
Atf5	A	T	7: 44,815,086	Y27*	probably null	Het
Atm	A	G	9: 53,506,611	S799P	probably damaging	Het
Chaf1a	C	T	17: 56,065,000	H723Y	probably damaging	Het
Clint1	T	C	11: 45,907,942	W493R	probably damaging	Het
Cyb561a3	T	A	19: 10,587,866	V198D	possibly damaging	Het
Cyp2j8	T	C	4: 96,501,064	E174G	possibly damaging	Het
Cyp4v3	C	T	8: 45,306,980	G512S	probably damaging	Het
Dnah8	T	A	17: 30,700,419	V1122D	probably benign	Het
Doc2b	C	A	11: 75,786,163	G128V	probably damaging	Het
Dysf	T	C	6: 84,150,034	V1378A	probably damaging	Het
Efcab5	A	T	11: 77,137,651	S421T	possibly damaging	Het
Efcab6	T	G	15: 83,945,123	D672A	probably benign	Het
Eif2ak3	C	A	6: 70,893,129	H933Q	probably damaging	Het
Erc1	A	T	6: 119,761,159	N574K	probably damaging	Het
Eri2	A	T	7: 119,787,846		probably benign	Het
Faxc	A	G	4: 21,948,744	Y152C	probably damaging	Het
Fbxl7	T	A	15: 26,543,499	Y354F	probably damaging	Het
Fras1	T	A	5: 96,735,187	I2526N	possibly damaging	Het
Gm1966	A	G	7: 106,599,204		noncoding transcript	Het
Gm5424	A	T	10: 62,071,595		noncoding transcript	Het
Gm6728	T	C	6: 136,486,703		noncoding transcript	Het
Golgb1	A	T	16: 36,913,141	S917C	probably benign	Het
Gtpbp3	T	C	8: 71,489,418		probably benign	Het
Gusb	A	T	5: 129,999,988	Y220*	probably null	Het
Hmcn1	A	G	1: 150,595,861	V4914A	possibly damaging	Het
Iars2	C	A	1: 185,323,734	C211F	probably damaging	Het
Kif5b	A	G	18: 6,211,058	L802P	probably damaging	Het
Kif5c	A	G	2: 49,735,590	E624G	probably damaging	Het
Kmt2d	G	T	15: 98,842,860		probably benign	Het
Krt82	C	A	15: 101,548,388	G186C	possibly damaging	Het
Lca5	G	A	9: 83,423,223	R177C	probably damaging	Het
Mier1	T	C	4: 103,162,710	S318P	probably benign	Het
Obscn	A	T	11: 59,003,369	I1207N	probably damaging	Het
Olfr1161	A	C	2: 88,025,474	I251L	probably benign	Het
Olfr1261	A	G	2: 89,994,182	D263G	probably damaging	Het
Olfr1302	A	G	2: 111,781,181	Y287C	probably damaging	Het
Olfr607	A	G	7: 103,460,615	F198L	probably benign	Het
Oog4	C	T	4: 143,437,854	G369D	probably benign	Het
Plec	T	C	15: 76,176,624	T3060A	probably damaging	Het
Plekhh2	C	T	17: 84,577,165	T769I	probably damaging	Het
Prkaa1	A	T	15: 5,160,668	S65C	probably damaging	Het
Psma3	T	C	12: 70,984,642		probably benign	Het
Ptpn18	T	A	1: 34,463,510		probably benign	Het
Ptprv	T	C	1: 135,112,260		noncoding transcript	Het
Rac1	C	A	5: 143,508,131	V104L	probably benign	Het
Serpinb7	A	T	1: 107,434,749	N61I	possibly damaging	Het
Sirt7	A	C	11: 120,620,521		probably benign	Het
Srl	G	A	16: 4,482,895	R333*	probably null	Het
Srprb	A	T	9: 103,201,920	L756Q	probably damaging	Het
Tchhl1	T	C	3: 93,470,795	S269P	probably damaging	Het
Tdo2	C	T	3: 81,975,323		probably null	Het
Teddm1a	T	C	1: 153,891,900	Y37H	probably benign	Het
Tenm3	T	C	8: 48,236,855	Y1899C	probably damaging	Het
Tep1	T	C	14: 50,838,631	T1681A	probably benign	Het
Timm44	G	T	8: 4,275,919		probably null	Het
Trp73	A	G	4: 154,062,602	V322A	possibly damaging	Het
Tsr1	A	C	11: 74,905,955	E611A	probably damaging	Het
Unc80	A	G	1: 66,646,587	N2290S	possibly damaging	Het
Ush2a	T	C	1: 188,947,079	V4828A	possibly damaging	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Wnt9b	C	A	11: 103,732,049	S176I	possibly damaging	Het
Zfp329	A	G	7: 12,806,526		probably benign	Het
Zfp352	T	A	4: 90,224,460	V279D	probably damaging	Het
Zfp932	C	T	5: 110,009,635	Q400*	probably null	Het
Zxdc	T	A	6: 90,382,093	L569Q	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
R3919:Bmp2k	UTSW	5	97074740	missense	unknown
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
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'- GGACGACAAACACAGCTCTG -3'
(R):5'- TTTCCTCAAAGGGCACGAGC -3'

Sequencing Primer
(F):5'- AGAGGAGACACGAGCTCCC -3'
(R):5'- GAGCCCAAAAACATCCTCCTTG -3'

Posted On

2016-07-06