Mutagenetix > Incidental Mutation

Incidental Mutation 'R1479:Bmp2k'

164191

Institutional Source

Beutler Lab

Gene Symbol

Bmp2k

Ensembl Gene

ENSMUSG00000034663

Gene Name

BMP2 inducible kinase

Synonyms

4933417M22Rik, BIKE

MMRRC Submission

039532-MU

Accession Numbers

Essential gene?

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

Stock #

R1479 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97145548-97239726 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97201059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 326 (N326K)

Ref Sequence

ENSEMBL: ENSMUSP00000108598 (fasta)

Gene Model

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

AlphaFold

Q91Z96

Predicted Effect

probably benign
Transcript: ENSMUST00000035635
AA Change: N326K

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000037970
Gene: ENSMUSG00000034663
AA Change: N326K

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
AA Change: N326K

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108598
Gene: ENSMUSG00000034663
AA Change: N326K

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

0.0956

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

96% (81/84)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	T	A	9: 50,652,601 (GRCm39)	T58S	possibly damaging	Het
Alox12e	A	G	11: 70,211,608 (GRCm39)	V252A	probably benign	Het
Anks6	T	C	4: 47,044,874 (GRCm39)	D344G	probably damaging	Het
Atg14	A	T	14: 47,784,696 (GRCm39)		probably null	Het
Bcr	G	T	10: 74,896,957 (GRCm39)	E34*	probably null	Het
Birc6	C	T	17: 74,941,848 (GRCm39)	T2728M	probably damaging	Het
Brme1	C	A	8: 84,889,026 (GRCm39)	T123K	possibly damaging	Het
Ccdc188	A	C	16: 18,037,154 (GRCm39)	T242P	possibly damaging	Het
Ccn6	G	A	10: 39,029,239 (GRCm39)	R230W	probably damaging	Het
Cdin1	T	A	2: 115,469,494 (GRCm39)	N74K	probably benign	Het
Chsy3	A	T	18: 59,541,985 (GRCm39)	E374D	probably benign	Het
Clca4b	A	T	3: 144,621,229 (GRCm39)	V615E	probably damaging	Het
Clcnka	C	A	4: 141,116,758 (GRCm39)	A498S	possibly damaging	Het
Csmd3	A	G	15: 47,721,282 (GRCm39)	C1450R	probably damaging	Het
Cul7	C	A	17: 46,962,673 (GRCm39)	D101E	probably damaging	Het
Cyp27b1	G	A	10: 126,887,580 (GRCm39)		probably null	Het
Cyp2d22	A	G	15: 82,256,137 (GRCm39)	S404P	probably damaging	Het
Dclk3	G	A	9: 111,297,614 (GRCm39)	S386N	probably benign	Het
Dnah10	G	A	5: 124,854,953 (GRCm39)	D1953N	possibly damaging	Het
Dst	T	A	1: 34,303,596 (GRCm39)		probably null	Het
Egfem1	A	G	3: 29,711,314 (GRCm39)	N241D	probably damaging	Het
Entpd7	T	C	19: 43,710,279 (GRCm39)	F312S	probably damaging	Het
Esp34	T	A	17: 38,865,219 (GRCm39)		probably benign	Het
Foxd2	T	A	4: 114,765,115 (GRCm39)	T302S	unknown	Het
Fzd6	A	T	15: 38,894,394 (GRCm39)	N187Y	probably damaging	Het
Gbp9	C	T	5: 105,241,930 (GRCm39)		probably benign	Het
Gna14	T	C	19: 16,511,133 (GRCm39)	S61P	possibly damaging	Het
Grap	A	T	11: 61,551,124 (GRCm39)	Y52F	probably benign	Het
H2-T3	T	C	17: 36,500,320 (GRCm39)	Y125C	probably damaging	Het
Hax1	C	A	3: 89,903,164 (GRCm39)	E212D	probably damaging	Het
Hecw1	A	C	13: 14,491,077 (GRCm39)	S638R	probably benign	Het
Hira	A	T	16: 18,715,219 (GRCm39)	K39M	probably damaging	Het
Hoxa2	T	A	6: 52,140,320 (GRCm39)	D222V	probably damaging	Het
Hycc2	T	A	1: 58,591,427 (GRCm39)	R91*	probably null	Het
Jph2	C	T	2: 163,181,191 (GRCm39)	V658M	possibly damaging	Het
Kansl1	A	T	11: 104,233,242 (GRCm39)	S762T	probably damaging	Het
Kat6b	T	A	14: 21,669,024 (GRCm39)	C267S	probably benign	Het
Klk6	A	G	7: 43,481,058 (GRCm39)	N250S	probably benign	Het
Lbp	T	C	2: 158,161,634 (GRCm39)	L232S	probably damaging	Het
Lcn9	A	T	2: 25,713,715 (GRCm39)		probably benign	Het
Lcp2	A	G	11: 34,025,068 (GRCm39)	H213R	probably benign	Het
Lrrc9	A	T	12: 72,507,599 (GRCm39)	K367*	probably null	Het
Lyst	A	G	13: 13,809,067 (GRCm39)	I246V	probably benign	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mst1r	T	C	9: 107,790,544 (GRCm39)		probably benign	Het
Myo18a	A	G	11: 77,733,020 (GRCm39)	E909G	probably benign	Het
Nipbl	A	T	15: 8,379,773 (GRCm39)	D1006E	probably benign	Het
Or4k5	C	A	14: 50,386,245 (GRCm39)	V29F	probably benign	Het
Or5d37	A	G	2: 87,923,630 (GRCm39)	F217L	probably benign	Het
Or8d1b	A	T	9: 38,887,058 (GRCm39)	I29F	probably benign	Het
Otog	A	G	7: 45,945,402 (GRCm39)	I2220V	possibly damaging	Het
Pcx	T	A	19: 4,652,052 (GRCm39)	I99N	probably damaging	Het
Pi4ka	C	T	16: 17,191,264 (GRCm39)	G211D	probably benign	Het
Pp2d1	T	C	17: 53,814,883 (GRCm39)	S614G	probably benign	Het
Prdx6	G	A	1: 161,071,833 (GRCm39)	A111V	probably damaging	Het
Prorp	T	A	12: 55,426,172 (GRCm39)	D138E	probably damaging	Het
Prss51	G	A	14: 64,333,619 (GRCm39)		probably null	Het
Psmd6	C	T	14: 14,116,819 (GRCm38)		probably benign	Het
Pten	T	A	19: 32,797,250 (GRCm39)	L345Q	probably damaging	Het
Qrich2	T	G	11: 116,332,311 (GRCm39)	H2295P	probably benign	Het
Rgs11	T	C	17: 26,427,257 (GRCm39)		probably null	Het
Rgs6	A	G	12: 83,163,018 (GRCm39)	E408G	probably damaging	Het
Septin4	G	T	11: 87,458,244 (GRCm39)	R206L	probably damaging	Het
Slc38a7	T	C	8: 96,575,122 (GRCm39)	T53A	probably benign	Het
Spata31g1	A	C	4: 42,972,543 (GRCm39)	K625N	possibly damaging	Het
Sptbn1	A	G	11: 30,063,909 (GRCm39)	C1957R	probably damaging	Het
Sumf1	T	C	6: 108,153,019 (GRCm39)	Y123C	probably damaging	Het
Tnrc6b	T	A	15: 80,771,233 (GRCm39)		probably null	Het
Ttc21a	C	A	9: 119,786,013 (GRCm39)	D670E	probably benign	Het
Ttn	A	G	2: 76,574,855 (GRCm39)	V25346A	probably damaging	Het
Ubr4	A	G	4: 139,153,151 (GRCm39)	T2070A	possibly damaging	Het
Vmn2r57	C	A	7: 41,077,254 (GRCm39)	W304L	possibly damaging	Het
Vps13a	T	C	19: 16,727,478 (GRCm39)		probably benign	Het
Zfp647	A	G	15: 76,795,403 (GRCm39)	V419A	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGAGATGGTCTGTGACTGCCTCTG -3'
(R):5'- GTGCTTCTCTGCACAGTGCAAAATG -3'

Sequencing Primer
(F):5'- GGATTGTGGACTAGCAAACCC -3'
(R):5'- ATCCTGCTGACGTTCTCCATAATAC -3'

Posted On

2014-03-28