Mutagenetix > Incidental Mutation

Incidental Mutation 'R5038:Ckmt2'

393126

Institutional Source

Beutler Lab

Gene Symbol

Ckmt2

Ensembl Gene

ENSMUSG00000021622

Gene Name

creatine kinase, mitochondrial 2

Synonyms

ScCKmit, 2300008A19Rik

MMRRC Submission

042628-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.335) question?

Stock #

R5038 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

92001510-92025001 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92009282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 215 (E215G)

Ref Sequence

ENSEMBL: ENSMUSP00000022122 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022122]

AlphaFold

Q6P8J7

Predicted Effect

probably benign
Transcript: ENSMUST00000022122
AA Change: E215G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000022122
Gene: ENSMUSG00000021622
AA Change: E215G

Domain	Start	End	E-Value	Type
Pfam:ATP-gua_PtransN	58	133	3.4e-35	PFAM
Pfam:ATP-gua_Ptrans	154	401	1.3e-95	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189130

Meta Mutation Damage Score

0.1369

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

94% (64/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: The hearts of mice homozygous for disruptions of this gene have hypertrophic and dilated left ventricles exhibit functional abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930512M02Rik	A	T	11: 11,539,375 (GRCm39)		probably null	Het
Abtb2	G	T	2: 103,397,408 (GRCm39)	G113C	probably damaging	Het
Acsm5	A	G	7: 119,134,034 (GRCm39)	T272A	probably damaging	Het
Adprs	C	T	4: 126,211,102 (GRCm39)	E272K	possibly damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Atp7b	A	C	8: 22,518,472 (GRCm39)	I122S	possibly damaging	Het
B230219D22Rik	T	C	13: 55,847,288 (GRCm39)	Y134H	probably damaging	Het
Bnc1	A	G	7: 81,618,462 (GRCm39)	S868P	probably damaging	Het
Camta1	T	C	4: 151,229,926 (GRCm39)	E302G	probably damaging	Het
Car1	A	G	3: 14,835,933 (GRCm39)	Y129H	probably damaging	Het
Cdh22	T	C	2: 164,984,197 (GRCm39)	T352A	probably benign	Het
Cyb5r4	T	G	9: 86,941,130 (GRCm39)		probably null	Het
Dhrs13	A	G	11: 77,923,256 (GRCm39)		probably benign	Het
Dsg1c	G	A	18: 20,397,901 (GRCm39)	A34T	probably benign	Het
Epb41l1	T	C	2: 156,363,330 (GRCm39)	V613A	probably benign	Het
Fam114a1	A	G	5: 65,166,388 (GRCm39)	M240V	probably damaging	Het
Gm15455	T	C	1: 33,877,257 (GRCm39)		noncoding transcript	Het
Herc1	T	G	9: 66,383,742 (GRCm39)		probably benign	Het
Ifna11	T	C	4: 88,738,314 (GRCm39)	V40A	probably benign	Het
Ifna15	T	C	4: 88,476,266 (GRCm39)	N73D	probably benign	Het
Imp4	A	T	1: 34,482,016 (GRCm39)	L45F	probably damaging	Het
Jak3	G	A	8: 72,138,702 (GRCm39)	A967T	probably damaging	Het
Krtap19-2	A	T	16: 88,670,916 (GRCm39)	Y76*	probably null	Het
Map4k5	A	T	12: 69,871,388 (GRCm39)	N492K	probably damaging	Het
Mycbp2	C	T	14: 103,534,375 (GRCm39)	R372H	probably damaging	Het
Nos2	G	A	11: 78,813,140 (GRCm39)	S16N	probably benign	Het
Nr2c2	A	G	6: 92,116,803 (GRCm39)	T2A	probably damaging	Het
Nup188	T	C	2: 30,199,232 (GRCm39)	Y267H	probably damaging	Het
Nxph2	G	A	2: 23,211,556 (GRCm39)		probably null	Het
Or5b107	T	A	19: 13,142,955 (GRCm39)	D192E	probably benign	Het
Or5b96	T	A	19: 12,867,770 (GRCm39)	H57L	probably damaging	Het
Or9i1b	T	A	19: 13,896,822 (GRCm39)	V146E	possibly damaging	Het
Otof	C	T	5: 30,541,783 (GRCm39)	E761K	possibly damaging	Het
Pik3r1	C	T	13: 101,825,952 (GRCm39)	R37Q	probably damaging	Het
Pkn3	T	C	2: 29,975,293 (GRCm39)		probably null	Het
Pold3	A	G	7: 99,770,590 (GRCm39)	V14A	probably damaging	Het
Ptpn14	T	C	1: 189,519,083 (GRCm39)	S38P	probably damaging	Het
Raf1	G	A	6: 115,597,196 (GRCm39)	Q35*	probably null	Het
Rps3a1	C	A	3: 86,045,338 (GRCm39)	E251D	probably benign	Het
Scd1	C	T	19: 44,390,148 (GRCm39)	V207M	probably damaging	Het
Shq1	A	G	6: 100,607,954 (GRCm39)	V319A	probably benign	Het
Slc4a8	T	C	15: 100,693,702 (GRCm39)	Y416H	probably damaging	Het
Slco1a5	T	C	6: 142,208,363 (GRCm39)	T143A	probably benign	Het
Slco1a5	C	T	6: 142,212,090 (GRCm39)	G90D	probably damaging	Het
Snx9	T	C	17: 5,937,348 (GRCm39)	V30A	probably benign	Het
Spdya	T	C	17: 71,895,561 (GRCm39)		probably benign	Het
Stat1	A	T	1: 52,162,368 (GRCm39)	N75I	probably damaging	Het
Sv2b	A	T	7: 74,807,173 (GRCm39)	M159K	probably damaging	Het
Tdh	A	T	14: 63,733,575 (GRCm39)	Y89*	probably null	Het
Tmc7	A	G	7: 118,142,588 (GRCm39)	F600S	probably damaging	Het
Trpa1	T	A	1: 14,981,090 (GRCm39)	H104L	probably damaging	Het
Ttn	G	A	2: 76,678,984 (GRCm39)		probably benign	Het
Vmn1r113	A	G	7: 20,521,419 (GRCm39)	I70M	possibly damaging	Het
Vmn1r171	A	G	7: 23,332,188 (GRCm39)	M138V	probably benign	Het
Zfc3h1	G	A	10: 115,240,116 (GRCm39)	V550I	probably benign	Het
Zfp335	G	T	2: 164,752,564 (GRCm39)	S60*	probably null	Het
Zfp7	T	C	15: 76,776,010 (GRCm39)	M684T	probably benign	Het
Zfp984	T	A	4: 147,839,903 (GRCm39)	H316L	probably damaging	Het
Zmym2	T	A	14: 57,193,637 (GRCm39)	Y1151N	possibly damaging	Het

Other mutations in Ckmt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Ckmt2	APN	13	92,011,382 (GRCm39)	missense	probably damaging	1.00
IGL01359:Ckmt2	APN	13	92,009,939 (GRCm39)	missense	probably damaging	1.00
IGL02138:Ckmt2	APN	13	92,009,947 (GRCm39)	missense	probably benign	0.44
IGL02372:Ckmt2	APN	13	92,013,343 (GRCm39)	missense	probably benign	0.02
IGL02415:Ckmt2	APN	13	92,011,459 (GRCm39)	splice site	probably benign
IGL02714:Ckmt2	APN	13	92,006,427 (GRCm39)	missense	possibly damaging	0.64
IGL02866:Ckmt2	APN	13	92,006,400 (GRCm39)	nonsense	probably null
R0329:Ckmt2	UTSW	13	92,011,322 (GRCm39)	missense	possibly damaging	0.93
R0330:Ckmt2	UTSW	13	92,011,322 (GRCm39)	missense	possibly damaging	0.93
R0593:Ckmt2	UTSW	13	92,001,757 (GRCm39)	missense	probably damaging	0.99
R1438:Ckmt2	UTSW	13	92,007,971 (GRCm39)	splice site	probably benign
R1529:Ckmt2	UTSW	13	92,009,320 (GRCm39)	missense	probably benign
R1616:Ckmt2	UTSW	13	92,007,328 (GRCm39)	missense	probably benign	0.16
R2114:Ckmt2	UTSW	13	92,003,964 (GRCm39)	missense	probably benign	0.05
R2117:Ckmt2	UTSW	13	92,003,964 (GRCm39)	missense	probably benign	0.05
R4300:Ckmt2	UTSW	13	92,011,457 (GRCm39)	critical splice acceptor site	probably null
R5322:Ckmt2	UTSW	13	92,009,891 (GRCm39)	missense	possibly damaging	0.59
R7539:Ckmt2	UTSW	13	92,008,063 (GRCm39)	missense	probably damaging	1.00
R8039:Ckmt2	UTSW	13	92,011,431 (GRCm39)	missense	possibly damaging	0.94
R8189:Ckmt2	UTSW	13	92,003,894 (GRCm39)	missense	probably damaging	0.99
R8258:Ckmt2	UTSW	13	92,007,335 (GRCm39)	missense	probably damaging	1.00
R8259:Ckmt2	UTSW	13	92,007,335 (GRCm39)	missense	probably damaging	1.00
R9127:Ckmt2	UTSW	13	92,007,337 (GRCm39)	missense	probably damaging	1.00
R9231:Ckmt2	UTSW	13	92,011,311 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCCAGCACTCATACTGAAG -3'
(R):5'- TCACGGGCAGTTTGATGAG -3'

Sequencing Primer
(F):5'- CCTAGTCCTACAGTGACATGATGG -3'
(R):5'- ATGAGCGCTATGTGTTGTCCTCTC -3'

Posted On

2016-06-15