Mutagenetix > Incidental Mutation

Incidental Mutation 'R2076:Ccne2'

229136

Institutional Source

Beutler Lab

Gene Symbol

Ccne2

Ensembl Gene

ENSMUSG00000028212

Gene Name

cyclin E2

Synonyms

MMRRC Submission

040081-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2076 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11191351-11204779 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11197177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 160 (R160G)

Ref Sequence

ENSEMBL: ENSMUSP00000130693 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029866] [ENSMUST00000044616] [ENSMUST00000108324] [ENSMUST00000170901]

AlphaFold

Q9Z238

Predicted Effect

probably damaging
Transcript: ENSMUST00000029866
AA Change: R159G

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

SMART Domains

Protein: ENSMUSP00000029866
Gene: ENSMUSG00000028212
AA Change: R159G

Domain	Start	End	E-Value	Type
CYCLIN	146	231	2.16e-24	SMART
Cyclin_C	240	362	5.49e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000044616

SMART Domains

Protein: ENSMUSP00000038418
Gene: ENSMUSG00000040738

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
low complexity region	80	93	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108324
AA Change: R160G

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

SMART Domains

Protein: ENSMUSP00000103960
Gene: ENSMUSG00000028212
AA Change: R160G

Domain	Start	End	E-Value	Type
CYCLIN	147	232	2.16e-24	SMART
Cyclin_C	241	363	5.49e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144438

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145430

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147725

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149075

Predicted Effect

probably damaging
Transcript: ENSMUST00000170901
AA Change: R160G

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

SMART Domains

Protein: ENSMUSP00000130693
Gene: ENSMUSG00000028212
AA Change: R160G

Domain	Start	End	E-Value	Type
CYCLIN	147	232	2.16e-24	SMART
Cyclin_C	241	363	5.49e-14	SMART

Meta Mutation Damage Score

0.8260

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2. This cyclin has been shown to specifically interact with CIP/KIP family of CDK inhibitors, and plays a role in cell cycle G1/S transition. The expression of this gene peaks at the G1-S phase and exhibits a pattern of tissue specificity distinct from that of cyclin E1. A significantly increased expression level of this gene was observed in tumor-derived cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Female mice homozygous for disruptions in this gene are phenotypically normal. Male mice show reduced fertility but are otherwise normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,178,478 (GRCm39)	V1165D	probably benign	Het
Acot11	T	C	4: 106,627,910 (GRCm39)	H103R	probably damaging	Het
Apba1	G	T	19: 23,870,587 (GRCm39)	E140*	probably null	Het
Bicdl1	A	T	5: 115,793,987 (GRCm39)	I253N	probably damaging	Het
Ccdc159	T	C	9: 21,840,802 (GRCm39)		probably null	Het
Cct7	A	T	6: 85,445,122 (GRCm39)	I458F	probably damaging	Het
Cd3g	T	A	9: 44,885,595 (GRCm39)	D50V	probably damaging	Het
Ces2h	T	C	8: 105,745,660 (GRCm39)	L461P	probably benign	Het
Cplane1	T	A	15: 8,248,741 (GRCm39)	D1763E	possibly damaging	Het
Csn2	A	G	5: 87,844,033 (GRCm39)	S19P	probably damaging	Het
Cyp3a11	A	T	5: 145,816,576 (GRCm39)	V4D	probably benign	Het
Ddx3y	A	G	Y: 1,266,593 (GRCm39)		probably null	Het
Dipk1c	G	T	18: 84,755,033 (GRCm39)	D170Y	probably damaging	Het
Dlgap1	C	T	17: 71,093,826 (GRCm39)	Q716*	probably null	Het
Dlx6	A	G	6: 6,867,098 (GRCm39)	S234G	probably benign	Het
Dnah7a	T	C	1: 53,542,968 (GRCm39)	T2401A	probably benign	Het
Dnah7b	T	G	1: 46,281,481 (GRCm39)	Y2847*	probably null	Het
Dpysl2	A	G	14: 67,102,571 (GRCm39)	S30P	probably damaging	Het
Elp1	T	C	4: 56,786,620 (GRCm39)	D441G	probably damaging	Het
Ezh2	A	T	6: 47,553,567 (GRCm39)	L50*	probably null	Het
Fam135b	T	A	15: 71,350,092 (GRCm39)	E349D	probably damaging	Het
Foxl3	A	G	5: 138,807,022 (GRCm39)	D100G	probably benign	Het
Frat2	T	C	19: 41,836,242 (GRCm39)	T37A	probably benign	Het
Hivep1	G	A	13: 42,317,869 (GRCm39)		probably null	Het
Ift25	T	C	4: 107,136,964 (GRCm39)	S121P	possibly damaging	Het
Impdh1	G	A	6: 29,205,162 (GRCm39)	A213V	probably damaging	Het
Irf2	G	T	8: 47,298,962 (GRCm39)	W252L	probably damaging	Het
Irx4	A	G	13: 73,416,384 (GRCm39)	D260G	probably damaging	Het
Kalrn	T	A	16: 34,152,513 (GRCm39)	H338L	probably benign	Het
Kif9	T	A	9: 110,314,100 (GRCm39)		probably null	Het
Klhl24	T	C	16: 19,936,628 (GRCm39)	V412A	probably damaging	Het
Lgals8	T	A	13: 12,469,750 (GRCm39)	K70*	probably null	Het
Mrtfb	T	C	16: 13,219,246 (GRCm39)	S631P	probably benign	Het
Myo1e	T	A	9: 70,291,159 (GRCm39)	N983K	probably benign	Het
Nipbl	T	C	15: 8,340,691 (GRCm39)	R2010G	probably benign	Het
Npw	A	T	17: 24,876,413 (GRCm39)	V166D	possibly damaging	Het
Osbpl5	T	C	7: 143,262,881 (GRCm39)	Y169C	probably damaging	Het
Pcdh15	T	C	10: 74,178,479 (GRCm39)	Y579H	probably damaging	Het
Pde8a	A	G	7: 80,958,693 (GRCm39)	T330A	probably benign	Het
Plxnb2	C	T	15: 89,042,229 (GRCm39)	V1592M	probably damaging	Het
Ppp2r3d	A	C	9: 101,021,570 (GRCm39)	M955R	possibly damaging	Het
Ptprk	T	A	10: 28,465,364 (GRCm39)	I1349K	probably damaging	Het
Rad52	C	T	6: 119,888,040 (GRCm39)	H9Y	probably benign	Het
Rapgef1	A	G	2: 29,592,520 (GRCm39)	Q466R	probably benign	Het
Rb1cc1	T	A	1: 6,320,262 (GRCm39)	I1227N	possibly damaging	Het
Rhbdf1	T	C	11: 32,164,088 (GRCm39)	M273V	probably benign	Het
Shoc1	A	G	4: 59,082,410 (GRCm39)	V406A	possibly damaging	Het
Slc30a3	G	T	5: 31,244,165 (GRCm39)	Y323*	probably null	Het
Slc5a9	T	C	4: 111,742,770 (GRCm39)	I441V	possibly damaging	Het
Spast	G	C	17: 74,659,026 (GRCm39)	G131A	probably damaging	Het
Syne1	C	G	10: 4,990,897 (GRCm39)	W8444S	probably damaging	Het
Tgm4	G	T	9: 122,880,160 (GRCm39)	A211S	probably benign	Het
Themis2	T	C	4: 132,513,113 (GRCm39)	D371G	probably damaging	Het
Tmem132e	T	A	11: 82,325,894 (GRCm39)	I206N	possibly damaging	Het
Uba3	G	T	6: 97,176,241 (GRCm39)	D88E	probably damaging	Het
Vmn1r230	T	A	17: 21,067,144 (GRCm39)	M111K	probably damaging	Het
Wdr35	C	T	12: 9,074,281 (GRCm39)	H971Y	possibly damaging	Het
Yeats2	C	A	16: 20,005,032 (GRCm39)	H356Q	possibly damaging	Het
Zfp180	A	G	7: 23,804,528 (GRCm39)	K316E	probably damaging	Het
Zfp518a	T	C	19: 40,902,771 (GRCm39)	L900P	probably damaging	Het
Zfp655	A	G	5: 145,181,410 (GRCm39)	N423D	possibly damaging	Het
Zfp932	A	G	5: 110,157,334 (GRCm39)	Q344R	probably benign	Het

Other mutations in Ccne2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Ccne2	APN	4	11,199,322 (GRCm39)	missense	probably benign	0.01
IGL02207:Ccne2	APN	4	11,202,261 (GRCm39)	missense	probably benign	0.00
IGL02885:Ccne2	APN	4	11,198,723 (GRCm39)	splice site	probably benign
R0367:Ccne2	UTSW	4	11,201,426 (GRCm39)	splice site	probably benign
R0686:Ccne2	UTSW	4	11,197,220 (GRCm39)	missense	possibly damaging	0.93
R1056:Ccne2	UTSW	4	11,192,707 (GRCm39)	missense	probably damaging	0.99
R1068:Ccne2	UTSW	4	11,192,850 (GRCm39)	missense	probably benign
R2167:Ccne2	UTSW	4	11,197,249 (GRCm39)	missense	probably benign	0.00
R2190:Ccne2	UTSW	4	11,197,241 (GRCm39)	missense	probably benign	0.02
R3724:Ccne2	UTSW	4	11,203,039 (GRCm39)	missense	probably benign	0.09
R3766:Ccne2	UTSW	4	11,199,293 (GRCm39)	splice site	probably benign
R4595:Ccne2	UTSW	4	11,202,986 (GRCm39)	missense	probably benign
R5469:Ccne2	UTSW	4	11,201,353 (GRCm39)	nonsense	probably null
R5543:Ccne2	UTSW	4	11,194,026 (GRCm39)	missense	probably benign	0.04
R5884:Ccne2	UTSW	4	11,199,411 (GRCm39)	missense	probably benign	0.00
R6298:Ccne2	UTSW	4	11,199,306 (GRCm39)	missense	probably damaging	1.00
R7493:Ccne2	UTSW	4	11,198,772 (GRCm39)	missense	probably damaging	1.00
R7553:Ccne2	UTSW	4	11,201,348 (GRCm39)	missense	probably benign	0.02
R7591:Ccne2	UTSW	4	11,201,393 (GRCm39)	missense	probably benign
R7801:Ccne2	UTSW	4	11,194,079 (GRCm39)	critical splice donor site	probably null
R7996:Ccne2	UTSW	4	11,201,347 (GRCm39)	missense	probably benign	0.01
R8799:Ccne2	UTSW	4	11,201,355 (GRCm39)	missense	probably benign	0.00
R8812:Ccne2	UTSW	4	11,202,279 (GRCm39)	missense	probably benign
R9301:Ccne2	UTSW	4	11,192,881 (GRCm39)	missense	probably benign	0.10
R9345:Ccne2	UTSW	4	11,199,420 (GRCm39)	missense	probably benign	0.03
R9566:Ccne2	UTSW	4	11,193,026 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AACAAGCTCACTCTAACAGTACGTG -3'
(R):5'- GTTCAGAAAATGGCAGTATCCTGAG -3'

Sequencing Primer
(F):5'- ACAGTACGTGTTATTCCCTCC -3'
(R):5'- AAATGGCAGTATCCTGAGATTAATG -3'

Posted On

2014-09-17