Mutagenetix > Incidental Mutation

Incidental Mutation 'R9506:Cmpk2'

717840

Institutional Source

Beutler Lab

Gene Symbol

Cmpk2

Ensembl Gene

ENSMUSG00000020638

Gene Name

cytidine/uridine monophosphate kinase 2

Synonyms

TDKI, Tyki, 1200004E04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9506 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26519203-26529836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26519850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 167 (D167G)

Ref Sequence

ENSEMBL: ENSMUSP00000020969 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020969]

AlphaFold

Q3U5Q7

Predicted Effect

probably benign
Transcript: ENSMUST00000020969
AA Change: D167G

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000020969
Gene: ENSMUSG00000020638
AA Change: D167G

Domain	Start	End	E-Value	Type
low complexity region	97	112	N/A	INTRINSIC
low complexity region	198	208	N/A	INTRINSIC
Pfam:Thymidylate_kin	257	438	2.1e-19	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the enzymes in the nucleotide synthesis salvage pathway that may participate in terminal differentiation of monocytic cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,437,773 (GRCm39)	T632A	unknown	Het
Atp2b1	T	C	10: 98,858,862 (GRCm39)	S1182P	probably benign	Het
Best3	T	A	10: 116,839,826 (GRCm39)	F225I	probably damaging	Het
Camk1g	A	G	1: 193,030,363 (GRCm39)		probably null	Het
Cdc42bpb	G	A	12: 111,261,372 (GRCm39)	P1656S	probably benign	Het
Cflar	A	T	1: 58,791,975 (GRCm39)	Q426L		Het
Chrna9	T	A	5: 66,128,213 (GRCm39)	D140E	probably damaging	Het
Csmd1	A	G	8: 16,250,023 (GRCm39)	L985P	probably damaging	Het
Cutal	A	G	2: 34,775,894 (GRCm39)	D75G	probably null	Het
Dnah12	G	T	14: 26,514,168 (GRCm39)	V1776F	probably benign	Het
Dnah6	A	G	6: 73,119,299 (GRCm39)	V1528A	probably damaging	Het
Elovl1	A	G	4: 118,287,912 (GRCm39)	D16G	probably damaging	Het
Ermard	T	A	17: 15,281,368 (GRCm39)	L593M	probably damaging	Het
Fstl4	A	G	11: 53,024,950 (GRCm39)	D274G	probably benign	Het
Gabrg1	C	T	5: 70,939,713 (GRCm39)	V140M	probably damaging	Het
Glrx2	C	T	1: 143,622,270 (GRCm39)	R89*	probably null	Het
Gsta3	A	C	1: 21,327,586 (GRCm39)	D40A	possibly damaging	Het
H4c3	C	T	13: 23,882,264 (GRCm39)	G57S	probably benign	Het
Hsf2	G	A	10: 57,381,241 (GRCm39)		probably null	Het
Ifi203	A	G	1: 173,751,565 (GRCm39)	S833P	possibly damaging	Het
Ilk	T	C	7: 105,390,020 (GRCm39)	Y132H	probably benign	Het
Jup	G	A	11: 100,267,704 (GRCm39)	R540C	probably damaging	Het
Kdm7a	T	A	6: 39,126,305 (GRCm39)	H560L	probably benign	Het
Kynu	T	A	2: 43,571,414 (GRCm39)	N443K	probably damaging	Het
Mbd5	T	C	2: 49,162,919 (GRCm39)	S1134P	probably damaging	Het
Mknk2	T	C	10: 80,503,918 (GRCm39)	D331G	probably benign	Het
Mtfmt	C	T	9: 65,343,147 (GRCm39)	R18C	probably benign	Het
Myo5b	A	G	18: 74,877,831 (GRCm39)	Q1584R	possibly damaging	Het
Nup210	G	A	6: 91,048,856 (GRCm39)	P467S	possibly damaging	Het
Nxf1	A	G	19: 8,749,508 (GRCm39)	Y135C	probably damaging	Het
Or4a67	T	C	2: 88,597,840 (GRCm39)	Y273C	probably damaging	Het
Rab11fip3	T	G	17: 26,213,250 (GRCm39)	E853A	probably damaging	Het
Rap1gap2	A	G	11: 74,305,266 (GRCm39)	M313T	probably damaging	Het
Rims2	G	A	15: 39,335,832 (GRCm39)	V814I	probably damaging	Het
Sec16a	A	T	2: 26,319,384 (GRCm39)		probably null	Het
Slc36a3	A	G	11: 55,039,457 (GRCm39)	I57T	probably benign	Het
Slc5a9	G	A	4: 111,750,439 (GRCm39)	R140*	probably null	Het
Tas2r131	T	A	6: 132,934,024 (GRCm39)	T262S	possibly damaging	Het
Tigd3	G	T	19: 5,942,860 (GRCm39)	A90D	probably damaging	Het
Txnrd3	A	G	6: 89,638,461 (GRCm39)	M217V	possibly damaging	Het
Ube3d	A	G	9: 86,330,825 (GRCm39)	I119T	probably damaging	Het
Vcp	A	G	4: 42,983,383 (GRCm39)	V559A	probably damaging	Het
Vmn1r173	T	A	7: 23,401,963 (GRCm39)	I66N	probably damaging	Het
Vmn1r234	T	G	17: 21,449,503 (GRCm39)	I139S	probably benign	Het
Vmn2r105	C	T	17: 20,429,404 (GRCm39)	M557I	probably benign	Het
Wnt7b	A	G	15: 85,465,613 (GRCm39)	S22P	unknown	Het
Zfp850	C	A	7: 27,688,987 (GRCm39)	R407L	possibly damaging	Het

Other mutations in Cmpk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01686:Cmpk2	APN	12	26,527,177 (GRCm39)	missense	probably damaging	1.00
IGL03306:Cmpk2	APN	12	26,521,442 (GRCm39)	missense	possibly damaging	0.77
R0090:Cmpk2	UTSW	12	26,528,021 (GRCm39)	missense	probably benign	0.00
R0245:Cmpk2	UTSW	12	26,519,517 (GRCm39)	missense	probably benign	0.01
R0369:Cmpk2	UTSW	12	26,527,150 (GRCm39)	nonsense	probably null
R0610:Cmpk2	UTSW	12	26,528,055 (GRCm39)	missense	possibly damaging	0.84
R1370:Cmpk2	UTSW	12	26,521,451 (GRCm39)	missense	probably damaging	1.00
R1897:Cmpk2	UTSW	12	26,524,046 (GRCm39)	missense	probably damaging	1.00
R4181:Cmpk2	UTSW	12	26,527,046 (GRCm39)	missense	probably damaging	0.97
R4210:Cmpk2	UTSW	12	26,519,570 (GRCm39)	missense	probably benign	0.00
R4544:Cmpk2	UTSW	12	26,528,016 (GRCm39)	missense	probably damaging	1.00
R5689:Cmpk2	UTSW	12	26,519,766 (GRCm39)	missense	probably benign	0.10
R6378:Cmpk2	UTSW	12	26,519,415 (GRCm39)	missense	possibly damaging	0.49
R6383:Cmpk2	UTSW	12	26,528,019 (GRCm39)	missense	probably benign	0.05
R6597:Cmpk2	UTSW	12	26,524,144 (GRCm39)	missense	possibly damaging	0.95
R6978:Cmpk2	UTSW	12	26,527,018 (GRCm39)	missense	probably damaging	1.00
R7332:Cmpk2	UTSW	12	26,528,061 (GRCm39)	missense	probably damaging	1.00
R8316:Cmpk2	UTSW	12	26,524,136 (GRCm39)	missense	probably damaging	1.00
R8441:Cmpk2	UTSW	12	26,527,204 (GRCm39)	missense	probably benign	0.20
R9176:Cmpk2	UTSW	12	26,524,027 (GRCm39)	missense	probably benign	0.04
R9275:Cmpk2	UTSW	12	26,519,568 (GRCm39)	missense	probably benign	0.01
R9278:Cmpk2	UTSW	12	26,519,568 (GRCm39)	missense	probably benign	0.01
R9459:Cmpk2	UTSW	12	26,528,022 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AACTGAGCAAGCTTCTGGGC -3'
(R):5'- CCAACCAAAGTGCTGAGTCC -3'

Sequencing Primer
(F):5'- CAAGCTTCTGGGCTATGGTCC -3'
(R):5'- GAACTCTTACCTCTTCCAAGACAG -3'

Posted On

2022-07-18