Mutagenetix > Incidental Mutation

Incidental Mutation 'R8258:Ckmt2'

640089

Institutional Source

Beutler Lab

Gene Symbol

Ckmt2

Ensembl Gene

ENSMUSG00000021622

Gene Name

creatine kinase, mitochondrial 2

Synonyms

ScCKmit, 2300008A19Rik

MMRRC Submission

067684-MU

Accession Numbers

Essential gene?

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

Stock #

R8258 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92001510-92025001 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92007335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 286 (R286S)

Ref Sequence

ENSEMBL: ENSMUSP00000022122 (fasta)

Gene Model

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

AlphaFold

Q6P8J7

Predicted Effect

probably damaging
Transcript: ENSMUST00000022122
AA Change: R286S

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

SMART Domains

Protein: ENSMUSP00000022122
Gene: ENSMUSG00000021622
AA Change: R286S

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: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	G	17: 84,983,523 (GRCm39)	T144P	possibly damaging	Het
Adhfe1	A	G	1: 9,628,417 (GRCm39)	N263S	probably null	Het
Aebp2	A	T	6: 140,583,453 (GRCm39)	Q309L	possibly damaging	Het
Akap7	A	G	10: 25,047,054 (GRCm39)	Y281H	probably damaging	Het
Atg2a	G	A	19: 6,299,859 (GRCm39)	A588T	probably damaging	Het
Calcoco1	T	C	15: 102,624,228 (GRCm39)	D236G	probably damaging	Het
Camsap2	A	T	1: 136,208,077 (GRCm39)	D470E	probably benign	Het
Capn8	G	T	1: 182,392,698 (GRCm39)	V25L	probably benign	Het
Card10	A	G	15: 78,660,884 (GRCm39)	V1041A	probably damaging	Het
Ccr1	T	A	9: 123,764,119 (GRCm39)	H137L	probably damaging	Het
Cdh23	A	T	10: 60,151,435 (GRCm39)	D2483E	probably damaging	Het
Chd2	G	T	7: 73,085,532 (GRCm39)	Q1701K	probably benign	Het
Cimap2	C	T	4: 106,448,859 (GRCm39)	G400S	probably damaging	Het
Cyp27a1	A	T	1: 74,771,214 (GRCm39)	D133V	probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eml1	A	T	12: 108,476,458 (GRCm39)	I283F	probably damaging	Het
Fat3	A	G	9: 15,901,887 (GRCm39)	V3046A	possibly damaging	Het
Fbxw20	A	G	9: 109,063,763 (GRCm39)	V3A	probably benign	Het
Fcgr2b	A	G	1: 170,795,702 (GRCm39)	S76P	possibly damaging	Het
Fgg	C	T	3: 82,917,477 (GRCm39)	Q169*	probably null	Het
Ggt5	G	A	10: 75,450,666 (GRCm39)	V558I	probably benign	Het
Gm4779	G	C	X: 100,837,390 (GRCm39)	T171S	possibly damaging	Het
Incenp	A	G	19: 9,870,993 (GRCm39)	L212P	unknown	Het
Incenp	G	C	19: 9,871,005 (GRCm39)	T208R	unknown	Het
Mctp1	T	A	13: 76,949,666 (GRCm39)		probably null	Het
Megf8	T	C	7: 25,057,848 (GRCm39)	M2095T	probably benign	Het
Mroh2b	G	A	15: 4,941,391 (GRCm39)	V308I	probably benign	Het
Muc1	T	A	3: 89,139,341 (GRCm39)	H580Q	probably damaging	Het
Naip6	A	T	13: 100,452,920 (GRCm39)	M47K	probably benign	Het
Nrxn1	C	A	17: 90,471,249 (GRCm39)	R1260L	probably damaging	Het
Nynrin	A	G	14: 56,100,815 (GRCm39)	I202V	possibly damaging	Het
Or14j7	T	C	17: 38,234,847 (GRCm39)	L130P	probably damaging	Het
Or5ac17	T	C	16: 59,036,458 (GRCm39)	I173V	probably benign	Het
Or5b98	T	C	19: 12,931,727 (GRCm39)	M258T	possibly damaging	Het
Pard3	G	A	8: 128,098,021 (GRCm39)	W354*	probably null	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Peak1	A	G	9: 56,166,677 (GRCm39)	V417A	probably damaging	Het
Prune2	A	G	19: 17,189,672 (GRCm39)	R3052G	unknown	Het
Prx	T	C	7: 27,218,808 (GRCm39)	L1242P	probably damaging	Het
Pxylp1	A	G	9: 96,707,633 (GRCm39)	I183T	probably benign	Het
Ranbp2	A	G	10: 58,291,755 (GRCm39)	E254G	probably benign	Het
Rhot2	C	A	17: 26,058,864 (GRCm39)	R512L	probably benign	Het
Rpa1	T	C	11: 75,193,550 (GRCm39)	N594D	probably benign	Het
Rxfp2	T	A	5: 149,983,365 (GRCm39)	I300K	probably damaging	Het
Scarf1	T	A	11: 75,414,689 (GRCm39)	S486T	probably damaging	Het
Slc24a4	T	C	12: 102,220,928 (GRCm39)	V455A	probably damaging	Het
Slitrk1	A	G	14: 109,148,653 (GRCm39)	V686A	probably benign	Het
Spata31e2	T	C	1: 26,721,562 (GRCm39)	E1206G	probably benign	Het
Syne2	C	A	12: 75,996,143 (GRCm39)	Q2228K	possibly damaging	Het
Tenm4	G	A	7: 96,517,198 (GRCm39)	G1430S	probably damaging	Het
Tlr12	C	A	4: 128,511,492 (GRCm39)	A253S	probably benign	Het
Trpm1	G	A	7: 63,918,777 (GRCm39)	A1590T	probably benign	Het
Vmn1r184	T	A	7: 25,966,686 (GRCm39)	M144K	probably benign	Het
Wee2	A	G	6: 40,421,114 (GRCm39)	D68G	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
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'- GAGTCCCACTTTGGAAGTTTCAAAG -3'
(R):5'- TAAGGGCCATCCAGGGAATG -3'

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

Posted On

2020-07-28