Mutagenetix > Incidental Mutation

Incidental Mutation 'R9127:Ckmt2'

693357

Institutional Source

Beutler Lab

Gene Symbol

Ckmt2

Ensembl Gene

ENSMUSG00000021622

Gene Name

creatine kinase, mitochondrial 2

Synonyms

ScCKmit, 2300008A19Rik

MMRRC Submission

068926-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

R9127 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92001510-92025001 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92007337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 286 (R286G)

Ref Sequence

ENSEMBL: ENSMUSP00000022122 (fasta)

Gene Model

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

AlphaFold

Q6P8J7

Predicted Effect

probably damaging
Transcript: ENSMUST00000022122
AA Change: R286G

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

SMART Domains

Protein: ENSMUSP00000022122
Gene: ENSMUSG00000021622
AA Change: R286G

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: 99.8%
20x: 99.3%

Validation Efficiency

100% (82/82)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,242,080 (GRCm39)	D1314E	probably benign	Het
Abcb1a	A	T	5: 8,724,707 (GRCm39)	R47W	probably benign	Het
Abcc6	T	C	7: 45,629,184 (GRCm39)	N1354S	probably damaging	Het
Abracl	T	C	10: 17,887,444 (GRCm39)	Y61C	probably damaging	Het
Adamtsl1	A	G	4: 86,208,027 (GRCm39)	T633A	probably benign	Het
Agap3	G	A	5: 24,681,439 (GRCm39)		probably benign	Het
Ago4	A	T	4: 126,400,904 (GRCm39)	M647K	probably damaging	Het
Akap7	G	T	10: 25,155,676 (GRCm39)	S72R	unknown	Het
Arhgef12	A	G	9: 42,885,870 (GRCm39)	L1251S	possibly damaging	Het
Astn2	A	T	4: 66,322,164 (GRCm39)	V145E	unknown	Het
Atxn2l	A	T	7: 126,097,393 (GRCm39)	S304R	probably damaging	Het
Cd226	A	T	18: 89,287,155 (GRCm39)	I318F	probably damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Cfap65	A	T	1: 74,958,510 (GRCm39)		probably benign	Het
Cfap96	T	G	8: 46,415,403 (GRCm39)	D201A	probably benign	Het
Chtf8	A	G	8: 107,613,640 (GRCm39)	V18A	probably benign	Het
Cit	G	T	5: 116,074,896 (GRCm39)	E683*	probably null	Het
Clec4a2	T	A	6: 123,116,218 (GRCm39)	W128R	probably damaging	Het
Clec4n	T	G	6: 123,212,447 (GRCm39)	S88A	probably damaging	Het
Cndp2	G	A	18: 84,699,121 (GRCm39)	A48V	probably benign	Het
Csmd1	T	C	8: 16,273,286 (GRCm39)	T849A	probably benign	Het
Cts3	A	T	13: 61,715,235 (GRCm39)	Y199*	probably null	Het
Dag1	A	T	9: 108,085,734 (GRCm39)	L469*	probably null	Het
Dclre1c	T	C	2: 3,439,125 (GRCm39)	V225A		Het
Dedd	A	G	1: 171,166,409 (GRCm39)	D115G	probably damaging	Het
Efcab3	T	A	11: 104,741,407 (GRCm39)	V2166D	probably benign	Het
Eif2ak3	T	A	6: 70,860,704 (GRCm39)	W427R	probably damaging	Het
Fbln2	T	A	6: 91,210,473 (GRCm39)	V139D	probably damaging	Het
Fbn1	A	T	2: 125,223,985 (GRCm39)	M588K	possibly damaging	Het
Gm17019	A	T	5: 15,081,113 (GRCm39)	Y109*	probably null	Het
Gm32742	T	A	9: 51,056,015 (GRCm39)	N1255Y	probably damaging	Het
Gm5431	T	A	11: 48,779,600 (GRCm39)	K441*	probably null	Het
Golga2	A	G	2: 32,196,079 (GRCm39)	D898G		Het
Gramd4	G	A	15: 85,975,525 (GRCm39)	R39H	probably benign	Het
Gucy1a2	A	G	9: 3,634,553 (GRCm39)	N199S	probably damaging	Het
Heyl	G	A	4: 123,139,885 (GRCm39)	R148H	probably damaging	Het
Ifi208	A	T	1: 173,523,400 (GRCm39)	M557L	probably benign	Het
Igf2r	A	G	17: 12,958,238 (GRCm39)	V145A	probably damaging	Het
Ighv1-4	A	T	12: 114,450,879 (GRCm39)	Y76*	probably null	Het
Ikzf4	T	C	10: 128,468,487 (GRCm39)	D664G	unknown	Het
Il1a	T	A	2: 129,146,715 (GRCm39)	Y126F	possibly damaging	Het
Lmf2	C	A	15: 89,239,771 (GRCm39)		probably benign	Het
Lyst	T	C	13: 13,808,827 (GRCm39)	S166P	probably damaging	Het
Mgat5	A	C	1: 127,294,197 (GRCm39)	T180P	probably benign	Het
Mical2	A	C	7: 111,870,589 (GRCm39)	K26T	possibly damaging	Het
Mov10	G	T	3: 104,711,659 (GRCm39)	Y209*	probably null	Het
Nol8	T	C	13: 49,815,475 (GRCm39)	Y528H	probably benign	Het
Numa1	T	A	7: 101,641,869 (GRCm39)	S106T	possibly damaging	Het
Or1e1d-ps1	A	T	11: 73,819,167 (GRCm39)	E39V	probably damaging	Het
Or4c124	G	A	2: 89,156,474 (GRCm39)	Q17*	probably null	Het
Or5b107	A	G	19: 13,142,396 (GRCm39)	N6S	probably damaging	Het
Or7g27	A	G	9: 19,250,026 (GRCm39)	H90R	probably benign	Het
Pcdhb14	A	G	18: 37,582,091 (GRCm39)	N399S	probably damaging	Het
Plcl2	T	A	17: 50,918,032 (GRCm39)	S944T	probably benign	Het
Pml	A	T	9: 58,127,660 (GRCm39)	I695N	probably benign	Het
Ppard	G	T	17: 28,505,349 (GRCm39)	R12L	unknown	Het
Ppip5k1	C	T	2: 121,158,125 (GRCm39)		probably null	Het
Ppp1r3g	T	C	13: 36,152,621 (GRCm39)	S14P	probably benign	Het
Pramel55	A	G	5: 95,951,623 (GRCm39)	Y470C	probably damaging	Het
Prrc2b	C	A	2: 32,103,764 (GRCm39)	R1081S	probably damaging	Het
Rasgrp2	A	T	19: 6,454,438 (GRCm39)	E160D	possibly damaging	Het
Rb1cc1	G	A	1: 6,333,073 (GRCm39)	V1331I	probably damaging	Het
Rnd3	A	T	2: 51,022,413 (GRCm39)	S210T	probably benign	Het
Scaf11	T	C	15: 96,312,764 (GRCm39)	T1426A	probably benign	Het
Sin3b	C	T	8: 73,460,034 (GRCm39)	T207I	possibly damaging	Het
Slc26a7	A	T	4: 14,593,873 (GRCm39)	Y81N	probably damaging	Het
Slc28a3	C	T	13: 58,724,581 (GRCm39)	M224I	probably benign	Het
Slc30a1	T	C	1: 191,639,342 (GRCm39)	I75T	probably damaging	Het
Slc6a21	T	A	7: 44,929,674 (GRCm39)		probably benign	Het
Slco2a1	T	A	9: 102,945,243 (GRCm39)	L206Q	probably damaging	Het
Spata31d1e	A	G	13: 59,890,828 (GRCm39)	S331P	probably benign	Het
Sptbn1	A	G	11: 30,104,356 (GRCm39)	V116A	probably damaging	Het
Syngap1	G	A	17: 27,181,095 (GRCm39)	D1008N	probably damaging	Het
Syt11	T	C	3: 88,669,643 (GRCm39)	D83G	probably benign	Het
Syt14	G	A	1: 192,584,131 (GRCm39)	T428I	probably damaging	Het
Taf15	T	A	11: 83,395,085 (GRCm39)	Y338*	probably null	Het
Tfap4	A	T	16: 4,365,183 (GRCm39)	M253K	possibly damaging	Het
Tnr	T	C	1: 159,713,680 (GRCm39)	S703P	possibly damaging	Het
Trrap	G	A	5: 144,767,830 (GRCm39)	D2577N	probably benign	Het
Uqcc6	A	T	10: 82,458,588 (GRCm39)	M21K	probably benign	Het
Wdr20	C	T	12: 110,759,597 (GRCm39)	S161L	possibly damaging	Het
Zfp503	C	A	14: 22,037,418 (GRCm39)	V62L	probably benign	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
R9231:Ckmt2	UTSW	13	92,011,311 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCACTTTGGAAGTTTCAAAGC -3'
(R):5'- TAAGGGCCATCCAGGGAATG -3'

Sequencing Primer
(F):5'- TGGTAGCTCACAACGATCTG -3'
(R):5'- GAAGCAATCAGGTAATGAGATTTTTC -3'

Posted On

2022-01-20