Mutagenetix > Incidental Mutation

Incidental Mutation 'R0245:Cmpk2'

212504

Institutional Source

Beutler Lab

Gene Symbol

Cmpk2

Ensembl Gene

ENSMUSG00000020638

Gene Name

cytidine/uridine monophosphate kinase 2

Synonyms

TDKI, Tyki, 1200004E04Rik

MMRRC Submission

038483-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0245 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

26519203-26529836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26519517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 56 (D56V)

Ref Sequence

ENSEMBL: ENSMUSP00000020969 (fasta)

Gene Model

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

AlphaFold

Q3U5Q7

Predicted Effect

probably benign
Transcript: ENSMUST00000020969
AA Change: D56V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000020969
Gene: ENSMUSG00000020638
AA Change: D56V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.9%

Validation Efficiency

99% (73/74)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	G	8: 125,378,168 (GRCm39)		probably benign	Het
Actmap	T	A	7: 26,900,028 (GRCm39)	C98S	possibly damaging	Het
Adgrg6	T	A	10: 14,333,810 (GRCm39)		probably benign	Het
Adra2a	G	C	19: 54,035,840 (GRCm39)	V399L	probably damaging	Het
Arpc1b	A	G	5: 145,063,670 (GRCm39)	D306G	probably damaging	Het
Asic3	C	A	5: 24,618,836 (GRCm39)	R43S	probably damaging	Het
Astn2	T	C	4: 65,712,795 (GRCm39)	D615G	probably damaging	Het
Btbd2	A	T	10: 80,483,640 (GRCm39)	Y178N	probably damaging	Het
Cacna1c	T	C	6: 118,581,415 (GRCm39)	N1647D	probably benign	Het
Cacna2d4	A	T	6: 119,285,682 (GRCm39)	D803V	probably damaging	Het
Cdh26	C	T	2: 178,123,425 (GRCm39)	R675C	possibly damaging	Het
Cdx2	C	A	5: 147,243,283 (GRCm39)	K170N	possibly damaging	Het
Dnah7a	T	C	1: 53,540,685 (GRCm39)	Y2563C	probably damaging	Het
Dock7	T	C	4: 98,943,586 (GRCm39)	D552G	possibly damaging	Het
E2f7	C	A	10: 110,610,656 (GRCm39)	S427*	probably null	Het
Eps8	T	C	6: 137,456,126 (GRCm39)	D785G	probably benign	Het
Ereg	G	A	5: 91,222,659 (GRCm39)	C14Y	possibly damaging	Het
Fah	A	C	7: 84,244,706 (GRCm39)	H222Q	probably benign	Het
Fbxw16	T	A	9: 109,265,236 (GRCm39)	S432C	possibly damaging	Het
Fdps	A	G	3: 89,001,078 (GRCm39)	S334P	possibly damaging	Het
Fgf7	A	G	2: 125,877,875 (GRCm39)	K81E	probably benign	Het
Gfra1	T	C	19: 58,288,986 (GRCm39)	N153S	possibly damaging	Het
Golga1	A	G	2: 38,925,271 (GRCm39)	V351A	probably benign	Het
Got1	A	T	19: 43,492,946 (GRCm39)		probably benign	Het
Greb1	T	C	12: 16,746,457 (GRCm39)	Y1271C	probably damaging	Het
Gtf3c4	A	G	2: 28,724,976 (GRCm39)	I252T	possibly damaging	Het
Gucy1a1	A	G	3: 82,016,094 (GRCm39)	I298T	possibly damaging	Het
Hivep1	A	G	13: 42,317,766 (GRCm39)	I2081V	possibly damaging	Het
Hps3	A	T	3: 20,066,960 (GRCm39)	C535*	probably null	Het
Hspg2	T	C	4: 137,242,033 (GRCm39)	F589S	probably damaging	Het
Itgb8	T	A	12: 119,154,290 (GRCm39)	N249I	probably damaging	Het
Itprid1	A	G	6: 55,874,992 (GRCm39)	E314G	probably damaging	Het
Kdm4a	T	C	4: 118,032,886 (GRCm39)	D60G	probably benign	Het
Kng2	A	T	16: 22,830,931 (GRCm39)		probably benign	Het
Marchf4	A	T	1: 72,573,940 (GRCm39)	D119E	probably benign	Het
Mrpl34	T	C	8: 71,917,719 (GRCm39)		probably benign	Het
Ncoa6	C	T	2: 155,233,131 (GRCm39)	G2059D	probably benign	Het
Nhsl1	A	G	10: 18,400,856 (GRCm39)	K660R	probably damaging	Het
Nr2c2ap	T	C	8: 70,584,228 (GRCm39)	V6A	possibly damaging	Het
Or10j3b	T	A	1: 173,043,524 (GRCm39)	I102N	possibly damaging	Het
Or4c29	C	A	2: 88,740,219 (GRCm39)	D173Y	possibly damaging	Het
Or4k52	A	G	2: 111,610,680 (GRCm39)	N5S	probably damaging	Het
Or5k14	A	T	16: 58,693,229 (GRCm39)	Y95N	probably benign	Het
Or7g33	C	A	9: 19,448,408 (GRCm39)	V273L	probably benign	Het
Oscar	C	T	7: 3,614,573 (GRCm39)		probably benign	Het
Pkhd1	T	C	1: 20,610,624 (GRCm39)	S1046G	probably benign	Het
Ptk6	T	C	2: 180,844,284 (GRCm39)	D5G	probably benign	Het
Rgs12	A	G	5: 35,187,424 (GRCm39)	H486R	probably benign	Het
Rnf111	C	T	9: 70,361,113 (GRCm39)		probably benign	Het
Rnf17	A	G	14: 56,676,066 (GRCm39)	Y309C	probably damaging	Het
Rnf19a	A	T	15: 36,253,178 (GRCm39)	I387N	probably damaging	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Sdk1	A	G	5: 141,940,713 (GRCm39)	T494A	probably benign	Het
Serac1	G	T	17: 6,102,031 (GRCm39)	D384E	probably damaging	Het
Sez6l	T	C	5: 112,623,432 (GRCm39)	M40V	probably benign	Het
Slc17a5	A	G	9: 78,448,206 (GRCm39)	I416T	probably benign	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Spata32	C	T	11: 103,099,921 (GRCm39)	A195T	probably damaging	Het
Srrd	A	G	5: 112,485,394 (GRCm39)		probably benign	Het
Srsf3-ps	T	A	11: 98,516,067 (GRCm39)		probably benign	Het
Supt3	T	C	17: 45,347,662 (GRCm39)	V208A	probably benign	Het
Taok3	G	A	5: 117,390,744 (GRCm39)		probably benign	Het
Tbxas1	G	T	6: 39,004,702 (GRCm39)	R316S	probably benign	Het
Tgfbrap1	A	T	1: 43,114,752 (GRCm39)	I116N	possibly damaging	Het
Tm7sf3	T	C	6: 146,520,107 (GRCm39)	T260A	possibly damaging	Het
Top2a	T	C	11: 98,900,922 (GRCm39)	I556V	probably benign	Het
Uroc1	A	G	6: 90,321,179 (GRCm39)	M252V	probably damaging	Het
Xpo4	G	T	14: 57,867,697 (GRCm39)	H183Q	probably damaging	Het
Zcchc17	T	A	4: 130,230,947 (GRCm39)	I81L	probably benign	Het
Zfp455	A	T	13: 67,355,899 (GRCm39)	Y389F	probably 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
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
R9506:Cmpk2	UTSW	12	26,519,850 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- CCTAACCGCTGCCGACAGTTAAAG -3'
(R):5'- TTGGCATCTCTGTAAAGGACCCCG -3'

Sequencing Primer
(F):5'- AGTAGCTCGGCCACACTG -3'
(R):5'- GCACACACAGCGCGTAG -3'

Posted On

2014-07-07