Mutagenetix > Incidental Mutation

Incidental Mutation 'R6597:Cmpk2'

524963

Institutional Source

Beutler Lab

Gene Symbol

Cmpk2

Ensembl Gene

ENSMUSG00000020638

Gene Name

cytidine/uridine monophosphate kinase 2

Synonyms

TDKI, Tyki, 1200004E04Rik

MMRRC Submission

044721-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6597 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26519203-26529836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 26524144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 314 (V314L)

Ref Sequence

ENSEMBL: ENSMUSP00000020969 (fasta)

Gene Model

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

AlphaFold

Q3U5Q7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020969
AA Change: V314L

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020969
Gene: ENSMUSG00000020638
AA Change: V314L

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

100% (50/50)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,625,080 (GRCm39)	Y486C	probably damaging	Het
Asb17	A	T	3: 153,550,321 (GRCm39)	T118S	probably damaging	Het
Atl2	T	A	17: 80,160,195 (GRCm39)	D293V	possibly damaging	Het
Bbs1	T	A	19: 4,949,334 (GRCm39)	M242L	probably benign	Het
Btg1	T	A	10: 96,454,182 (GRCm39)	S65T	probably damaging	Het
Cfap54	T	C	10: 92,834,902 (GRCm39)	D1101G	possibly damaging	Het
Fbxl8	A	C	8: 105,995,523 (GRCm39)	D345A	probably benign	Het
Gys2	T	A	6: 142,402,035 (GRCm39)	H268L	probably benign	Het
Hecw1	T	A	13: 14,491,403 (GRCm39)	R117*	probably null	Het
Hoxd10	G	A	2: 74,522,984 (GRCm39)	A221T	probably benign	Het
Hspa13	A	T	16: 75,562,085 (GRCm39)	L38Q	probably damaging	Het
Inava	G	T	1: 136,153,927 (GRCm39)	A87E	probably damaging	Het
Ipo11	A	G	13: 107,002,371 (GRCm39)		probably null	Het
Itgb8	A	G	12: 119,137,133 (GRCm39)	V390A	possibly damaging	Het
Kalrn	T	A	16: 34,003,117 (GRCm39)	I1370F	probably damaging	Het
Macf1	T	C	4: 123,276,485 (GRCm39)	N6086S	probably damaging	Het
Ms4a13	T	C	19: 11,170,303 (GRCm39)	T14A	probably benign	Het
Or11g26	T	A	14: 50,753,008 (GRCm39)	C116S	probably benign	Het
Or55b10	A	T	7: 102,143,628 (GRCm39)	I118N	probably damaging	Het
Or5ac22	C	T	16: 59,135,713 (GRCm39)	R19H	probably benign	Het
Or5d37	A	G	2: 87,923,413 (GRCm39)	F289S	probably damaging	Het
Or8b47	A	T	9: 38,435,300 (GRCm39)	I91F	probably benign	Het
Or9q1	T	A	19: 13,805,821 (GRCm39)		probably benign	Het
Patl2	T	A	2: 122,016,645 (GRCm39)		probably benign	Het
Pcdhga7	T	C	18: 37,850,059 (GRCm39)	S689P	probably benign	Het
Pitpnc1	G	T	11: 107,117,058 (GRCm39)	Y227*	probably null	Het
Pla2g2e	T	C	4: 138,607,984 (GRCm39)	V22A	unknown	Het
Ppil1	C	A	17: 29,480,852 (GRCm39)	V24F	probably benign	Het
Prl3b1	G	A	13: 27,431,957 (GRCm39)		probably null	Het
Rabgef1	G	A	5: 130,219,885 (GRCm39)		probably null	Het
Rhot2	A	T	17: 26,059,886 (GRCm39)	W341R	probably damaging	Het
Rps6kc1	A	T	1: 190,482,381 (GRCm39)	W286R	probably benign	Het
Rrs1	A	G	1: 9,616,601 (GRCm39)	T285A	probably damaging	Het
Shc3	T	A	13: 51,597,009 (GRCm39)	D338V	possibly damaging	Het
Siglech	A	T	7: 55,418,211 (GRCm39)	M60L	probably benign	Het
Slc12a6	G	T	2: 112,183,280 (GRCm39)	V756F	probably damaging	Het
Slc43a2	G	A	11: 75,462,681 (GRCm39)	G507D	probably damaging	Het
Slf1	A	G	13: 77,197,248 (GRCm39)	S789P	probably benign	Het
Spata31d1d	C	A	13: 59,873,871 (GRCm39)	M1221I	probably benign	Het
Srgap1	T	C	10: 121,628,276 (GRCm39)	N899D	probably benign	Het
Stag1	G	A	9: 100,769,473 (GRCm39)	M529I	probably benign	Het
Tekt3	A	G	11: 62,972,085 (GRCm39)	D247G	probably benign	Het
Tmppe	A	T	9: 114,234,312 (GRCm39)	M204L	probably benign	Het
Tpsg1	G	A	17: 25,588,271 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,628,315 (GRCm39)	V6288A	probably benign	Het
Ttn	A	T	2: 76,723,444 (GRCm39)		probably benign	Het
Twsg1	C	A	17: 66,244,799 (GRCm39)	V73F	probably damaging	Het
Vmn2r102	A	G	17: 19,914,450 (GRCm39)	T672A	probably damaging	Het
Vps36	A	G	8: 22,692,320 (GRCm39)	I66V	probably benign	Het
Xrcc4	A	T	13: 90,149,048 (GRCm39)	D157E	probably benign	Het
Zbbx	T	A	3: 75,043,761 (GRCm39)	Q162L	probably damaging	Het
Zfp560	T	A	9: 20,259,297 (GRCm39)	I522L	probably benign	Het
Zscan20	T	C	4: 128,479,539 (GRCm39)	N984S	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
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
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'- CGGTTTCAGCTAGGAAGTGTTC -3'
(R):5'- CTACCCAAGGCACTATTCCAGG -3'

Sequencing Primer
(F):5'- CAGCTAGGAAGTGTTCTGCTC -3'
(R):5'- CCAAGGCACTATTCCAGGTATTAG -3'

Posted On

2018-06-22