Mutagenetix > Incidental Mutation

Incidental Mutation 'R0369:Cmpk2'

30391

Institutional Source

Beutler Lab

Gene Symbol

Cmpk2

Ensembl Gene

ENSMUSG00000020638

Gene Name

cytidine/uridine monophosphate kinase 2

Synonyms

TDKI, Tyki, 1200004E04Rik

MMRRC Submission

038575-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0369 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26519203-26529836 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 26527150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 380 (E380*)

Ref Sequence

ENSEMBL: ENSMUSP00000020969 (fasta)

Gene Model

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

AlphaFold

Q3U5Q7

Predicted Effect

probably null
Transcript: ENSMUST00000020969
AA Change: E380*

SMART Domains

Protein: ENSMUSP00000020969
Gene: ENSMUSG00000020638
AA Change: E380*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220466

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221060

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221826

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 94.8%
20x: 87.0%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	G	A	9: 114,129,077 (GRCm39)		noncoding transcript	Het
Aadacl2	T	A	3: 59,932,143 (GRCm39)	Y219*	probably null	Het
Adamts13	C	A	2: 26,895,198 (GRCm39)	D1096E	probably benign	Het
Adamts16	T	G	13: 70,927,671 (GRCm39)	K523Q	possibly damaging	Het
Adcy2	A	G	13: 68,820,019 (GRCm39)	F740S	probably benign	Het
Carmil1	T	A	13: 24,266,003 (GRCm39)	N253I	probably damaging	Het
Ccdc97	T	C	7: 25,413,833 (GRCm39)	T283A	probably damaging	Het
Csmd3	A	G	15: 47,833,543 (GRCm39)	I911T	probably damaging	Het
Cyp2c39	T	C	19: 39,502,079 (GRCm39)	L156P	probably damaging	Het
D7Ertd443e	T	C	7: 133,899,866 (GRCm39)	I499V	possibly damaging	Het
Dhx58	A	C	11: 100,592,374 (GRCm39)		probably null	Het
Dip2a	C	T	10: 76,134,621 (GRCm39)	G390S	probably damaging	Het
Dusp10	A	G	1: 183,801,253 (GRCm39)	D340G	probably damaging	Het
Epha1	A	T	6: 42,342,407 (GRCm39)	C314S	probably damaging	Het
Exph5	A	T	9: 53,284,602 (GRCm39)	H561L	probably benign	Het
Fbxw26	A	G	9: 109,552,780 (GRCm39)		probably null	Het
Foxc1	A	C	13: 31,991,495 (GRCm39)	N102T	probably damaging	Het
Fsip2	T	C	2: 82,814,908 (GRCm39)	I3547T	probably benign	Het
Gm5464	G	T	14: 67,106,774 (GRCm39)		probably benign	Het
Gnptab	C	T	10: 88,269,456 (GRCm39)	R720C	possibly damaging	Het
Greb1l	T	C	18: 10,469,375 (GRCm39)	V130A	possibly damaging	Het
Hmg20a	A	T	9: 56,394,934 (GRCm39)	D216V	probably damaging	Het
Hnrnpul2	C	A	19: 8,801,777 (GRCm39)	D328E	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ift172	T	C	5: 31,410,985 (GRCm39)	Y1691C	probably damaging	Het
Kremen2	T	C	17: 23,961,784 (GRCm39)	D241G	probably benign	Het
Meis2	T	C	2: 115,893,897 (GRCm39)	D5G	possibly damaging	Het
Mrps5	G	A	2: 127,433,749 (GRCm39)	R46K	probably benign	Het
Myh14	C	T	7: 44,310,374 (GRCm39)	V170M	probably damaging	Het
Nexn	T	C	3: 151,953,894 (GRCm39)	N123D	probably benign	Het
Or11g26	T	A	14: 50,753,282 (GRCm39)	M207K	probably benign	Het
Or4d11	A	T	19: 12,013,765 (GRCm39)	S114T	probably benign	Het
Or51l14	T	A	7: 103,101,423 (GRCm39)	I293N	probably damaging	Het
Pacs1	C	T	19: 5,191,726 (GRCm39)	V704M	probably damaging	Het
Papolg	A	G	11: 23,822,425 (GRCm39)		probably null	Het
Pdlim3	T	C	8: 46,370,543 (GRCm39)	V281A	probably benign	Het
Plpp4	T	G	7: 128,925,190 (GRCm39)	F142V	probably damaging	Het
Prb1a	G	A	6: 132,184,620 (GRCm39)	Q338*	probably null	Het
Psg26	G	T	7: 18,216,481 (GRCm39)	Y119*	probably null	Het
Ptger4	A	G	15: 5,272,491 (GRCm39)	C68R	probably benign	Het
Ptpre	T	A	7: 135,272,444 (GRCm39)	I399N	probably damaging	Het
Ripply2	A	G	9: 86,898,372 (GRCm39)	Y72C	probably damaging	Het
Rp1l1	T	A	14: 64,266,837 (GRCm39)	S808T	possibly damaging	Het
Scn5a	G	A	9: 119,362,838 (GRCm39)	T594I	probably damaging	Het
Sf3b1	T	C	1: 55,037,267 (GRCm39)	D883G	probably benign	Het
Skint5	A	T	4: 113,369,220 (GRCm39)		probably null	Het
Terf1	A	G	1: 15,889,207 (GRCm39)	H212R	probably damaging	Het
Tmco5	T	G	2: 116,711,269 (GRCm39)		probably null	Het
Tnfaip3	A	T	10: 18,882,660 (GRCm39)	Y252*	probably null	Het
Tnrc6a	T	A	7: 122,770,083 (GRCm39)	N624K	probably damaging	Het
Top3a	C	A	11: 60,633,615 (GRCm39)	R827L	probably damaging	Het
Unc79	G	A	12: 103,055,031 (GRCm39)		probably null	Het
Usp20	T	C	2: 30,901,116 (GRCm39)	S422P	probably benign	Het
Utrn	T	C	10: 12,509,766 (GRCm39)	E2402G	probably benign	Het
Wdr3	G	A	3: 100,063,734 (GRCm39)	Q181*	probably null	Het
Zfp536	T	C	7: 37,267,373 (GRCm39)	E681G	probably damaging	Het
Zfp91	C	T	19: 12,747,438 (GRCm39)	V562I	possibly damaging	Het
Zfp942	A	T	17: 22,148,017 (GRCm39)	I204N	probably benign	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
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
R9506:Cmpk2	UTSW	12	26,519,850 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- TCTCAGGTACTGGCATAGCACAGC -3'
(R):5'- AAGGTCAAACCCAAGTCCTCTTGC -3'

Sequencing Primer
(F):5'- CCACCTACGCCATAGCTACTG -3'
(R):5'- GGCTTAGAGGACAATGTCTCTCATAC -3'

Posted On

2013-04-24