Mutagenetix > Incidental Mutation

Incidental Mutation 'R9231:Ckmt2'

700256

Institutional Source

Beutler Lab

Gene Symbol

Ckmt2

Ensembl Gene

ENSMUSG00000021622

Gene Name

creatine kinase, mitochondrial 2

Synonyms

ScCKmit, 2300008A19Rik

MMRRC Submission

068985-MU

Accession Numbers

Essential gene?

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

Stock #

R9231 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92001510-92025001 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 92011311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 100 (H100N)

Ref Sequence

ENSEMBL: ENSMUSP00000022122 (fasta)

Gene Model

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

AlphaFold

Q6P8J7

Predicted Effect

probably damaging
Transcript: ENSMUST00000022122
AA Change: H100N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022122
Gene: ENSMUSG00000021622
AA Change: H100N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

98% (60/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,349,153 (GRCm39)	Q1073R	probably benign	Het
Akirin2	A	G	4: 34,551,072 (GRCm39)	T10A	possibly damaging	Het
Ankrd13a	T	A	5: 114,942,295 (GRCm39)	I526N	probably damaging	Het
Ankrd28	A	G	14: 31,429,234 (GRCm39)	V876A	possibly damaging	Het
Aqp8	T	A	7: 123,061,813 (GRCm39)	M11K	probably benign	Het
Catsper3	T	C	13: 55,946,705 (GRCm39)	I134T	possibly damaging	Het
Cdk9	G	T	2: 32,598,006 (GRCm39)	T350N	probably benign	Het
Cnnm4	A	T	1: 36,511,258 (GRCm39)	D162V	probably benign	Het
Cnppd1	T	C	1: 75,116,261 (GRCm39)	H108R	possibly damaging	Het
Col17a1	G	A	19: 47,667,861 (GRCm39)	R139*	probably null	Het
Cyp2c65	C	T	19: 39,060,661 (GRCm39)	P174S	possibly damaging	Het
Dync2li1	A	G	17: 84,935,819 (GRCm39)	S39G	probably null	Het
Ecpas	A	G	4: 58,875,533 (GRCm39)	Y144H	probably damaging	Het
Eif2ak4	A	G	2: 118,271,662 (GRCm39)	D882G	probably benign	Het
Emp1	C	T	6: 135,354,276 (GRCm39)	T23I	probably damaging	Het
Epha8	T	A	4: 136,673,226 (GRCm39)	D186V	probably damaging	Het
Fam169a	T	G	13: 97,254,967 (GRCm39)	D394E	probably benign	Het
Fam20b	T	C	1: 156,509,084 (GRCm39)	D376G	probably benign	Het
Fgfbp3	C	T	19: 36,896,193 (GRCm39)	A142T	possibly damaging	Het
Flg2	C	T	3: 93,109,508 (GRCm39)	S512L	unknown	Het
Fras1	T	A	5: 96,692,904 (GRCm39)	C188S	probably damaging	Het
Galr2	T	C	11: 116,174,335 (GRCm39)	C322R	probably benign	Het
Gbe1	T	A	16: 70,284,989 (GRCm39)	M437K	possibly damaging	Het
Glt1d1	T	A	5: 127,754,341 (GRCm39)	L181Q	probably damaging	Het
Gpr180	G	A	14: 118,395,455 (GRCm39)	V296I	probably damaging	Het
Gucy1a1	C	T	3: 82,013,308 (GRCm39)	E445K	probably damaging	Het
H2-T24	T	C	17: 36,331,363 (GRCm39)	D14G	possibly damaging	Het
Igsf10	G	A	3: 59,243,843 (GRCm39)	R164W	probably damaging	Het
Ing5	T	G	1: 93,739,505 (GRCm39)	D37E	probably benign	Het
Kcnt1	A	G	2: 25,801,074 (GRCm39)	T1051A	probably benign	Het
Kif1b	A	T	4: 149,275,652 (GRCm39)	S1420T	possibly damaging	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Kmt2a	A	G	9: 44,759,912 (GRCm39)	F646L	probably damaging	Het
Lrp1	T	C	10: 127,382,268 (GRCm39)	D3731G	probably benign	Het
Mif	T	A	10: 75,695,370 (GRCm39)	I97F	probably damaging	Het
Mpp4	A	T	1: 59,163,833 (GRCm39)	V507D	probably damaging	Het
Mrpl1	C	A	5: 96,361,719 (GRCm39)	N35K	probably benign	Het
Naf1	CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	8: 67,313,146 (GRCm39)		probably benign	Het
Nat8f6	A	G	6: 85,785,630 (GRCm39)	V173A	probably damaging	Het
Ninl	C	T	2: 150,792,129 (GRCm39)	R798Q	probably benign	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Or10a49	T	C	7: 108,467,840 (GRCm39)	I174V	possibly damaging	Het
Or1af1	A	T	2: 37,109,989 (GRCm39)	M163L	possibly damaging	Het
Paqr8	A	G	1: 21,005,875 (GRCm39)	H343R	probably benign	Het
Parp14	A	G	16: 35,661,583 (GRCm39)	V1455A	probably damaging	Het
Parp3	A	T	9: 106,350,891 (GRCm39)	S334T	probably benign	Het
Pcbp2	T	G	15: 102,394,477 (GRCm39)		probably null	Het
Perm1	A	T	4: 156,302,234 (GRCm39)	E259D	probably damaging	Het
Plce1	A	T	19: 38,705,040 (GRCm39)	N815I	probably benign	Het
Plxnb1	A	T	9: 108,934,286 (GRCm39)	D838V	possibly damaging	Het
Prdm12	A	G	2: 31,530,265 (GRCm39)	D52G	probably benign	Het
Rac2	T	C	15: 78,450,223 (GRCm39)	N39S	probably damaging	Het
Smchd1	A	T	17: 71,672,084 (GRCm39)	C1657S	probably benign	Het
Sugct	T	A	13: 17,627,071 (GRCm39)	T261S	probably damaging	Het
Tbc1d10a	T	C	11: 4,164,885 (GRCm39)	L446P	probably damaging	Het
Tcp1	T	A	17: 13,136,761 (GRCm39)	D47E	probably damaging	Het
Tenm3	T	A	8: 48,689,231 (GRCm39)	T2119S	probably damaging	Het
Tent5a	T	G	9: 85,208,388 (GRCm39)	D145A	possibly damaging	Het
Tmem132b	T	C	5: 125,860,531 (GRCm39)	M592T	probably damaging	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Vinac1	A	T	2: 128,879,340 (GRCm39)	I862N	unknown	Het
Washc2	C	A	6: 116,235,899 (GRCm39)	D1123E	probably benign	Het
Wee2	A	G	6: 40,440,089 (GRCm39)	I412M	probably 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
R5038:Ckmt2	UTSW	13	92,009,282 (GRCm39)	missense	probably benign	0.01
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

Predicted Primers

PCR Primer
(F):5'- CCCTTTCTGAGAATGCAAAAGC -3'
(R):5'- AGAGCCTGGTTGAAGGTCAC -3'

Sequencing Primer
(F):5'- TTCTGAGAATGCAAAAGCTGACTCC -3'
(R):5'- TTACCTGGGGAATACTGGCCTAC -3'

Posted On

2022-02-07