Mutagenetix > Incidental Mutation

Incidental Mutation 'R0367:Ccne2'

30263

Institutional Source

Beutler Lab

Gene Symbol

Ccne2

Ensembl Gene

ENSMUSG00000028212

Gene Name

cyclin E2

Synonyms

MMRRC Submission

038573-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0367 (G1)

Quality Score

183

Status

Validated

Chromosome

Chromosomal Location

11191351-11204779 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 11201426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130693 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029866] [ENSMUST00000044616] [ENSMUST00000108318] [ENSMUST00000108319] [ENSMUST00000108324] [ENSMUST00000170901]

AlphaFold

Q9Z238

Predicted Effect

probably benign
Transcript: ENSMUST00000029866

SMART Domains

Protein: ENSMUSP00000029866
Gene: ENSMUSG00000028212

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 benign
Transcript: ENSMUST00000108318

SMART Domains

Protein: ENSMUSP00000103954
Gene: ENSMUSG00000040738

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
low complexity region	80	93	N/A	INTRINSIC
SCOP:d1a17__	826	961	9e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108319

SMART Domains

Protein: ENSMUSP00000103955
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 benign
Transcript: ENSMUST00000108324

SMART Domains

Protein: ENSMUSP00000103960
Gene: ENSMUSG00000028212

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: ENSMUST00000136545

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137054

Predicted Effect

probably benign
Transcript: ENSMUST00000170901

SMART Domains

Protein: ENSMUSP00000130693
Gene: ENSMUSG00000028212

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: ENSMUST00000145252

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (60/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,049,961 (GRCm39)	S12P	probably damaging	Het
Alx4	T	A	2: 93,498,953 (GRCm39)	D228E	probably damaging	Het
Antxr2	T	C	5: 98,177,455 (GRCm39)	E71G	probably benign	Het
Arhgap19	C	A	19: 41,790,417 (GRCm39)	G17V	probably benign	Het
C8a	A	C	4: 104,719,791 (GRCm39)		probably null	Het
Cdc42bpg	G	A	19: 6,361,425 (GRCm39)	C317Y	probably damaging	Het
Cend1	C	A	7: 141,007,808 (GRCm39)	R4L	probably damaging	Het
Cfap44	T	C	16: 44,253,839 (GRCm39)		probably null	Het
Cpt1c	T	C	7: 44,608,999 (GRCm39)	N774S	probably benign	Het
Csmd1	C	T	8: 15,967,270 (GRCm39)	D3198N	probably damaging	Het
Dapk2	C	T	9: 66,176,168 (GRCm39)	S323F	probably damaging	Het
Ddx60	T	G	8: 62,470,783 (GRCm39)	I1425R	possibly damaging	Het
Edem1	T	A	6: 108,823,713 (GRCm39)	Y370N	probably damaging	Het
Elp5	A	G	11: 69,865,967 (GRCm39)	V103A	probably benign	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
Fat1	A	G	8: 45,477,350 (GRCm39)	D2132G	probably damaging	Het
Fat2	A	T	11: 55,182,919 (GRCm39)		probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gp2	C	T	7: 119,053,791 (GRCm39)	D57N	probably damaging	Het
Gpr161	T	C	1: 165,144,805 (GRCm39)		probably benign	Het
Gstcd	G	A	3: 132,692,138 (GRCm39)		probably benign	Het
Hipk3	A	T	2: 104,261,594 (GRCm39)	C980*	probably null	Het
Htr2a	A	T	14: 74,879,649 (GRCm39)	I93L	probably damaging	Het
Itpr2	T	G	6: 146,135,506 (GRCm39)	K1775N	probably damaging	Het
Kcnt1	G	A	2: 25,797,640 (GRCm39)	V864I	probably damaging	Het
Kcnt2	A	T	1: 140,278,963 (GRCm39)	Y38F	probably damaging	Het
Limch1	G	A	5: 67,015,297 (GRCm39)		probably null	Het
Lmtk2	C	T	5: 144,111,103 (GRCm39)	R608C	possibly damaging	Het
Loxhd1	C	T	18: 77,513,453 (GRCm39)		probably benign	Het
Lpin2	A	T	17: 71,522,017 (GRCm39)	E17V	probably damaging	Het
Lrrc34	A	T	3: 30,684,142 (GRCm39)	F342I	probably benign	Het
Lyzl6	A	G	11: 103,527,578 (GRCm39)		probably null	Het
Map3k4	A	C	17: 12,476,928 (GRCm39)		probably benign	Het
Mocs3	C	T	2: 168,073,602 (GRCm39)	P350S	probably benign	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Or1ad8	A	G	11: 50,897,904 (GRCm39)	Y35C	probably damaging	Het
Or4c52	A	C	2: 89,846,116 (GRCm39)	I281L	probably damaging	Het
Or7e168	G	T	9: 19,719,839 (GRCm39)	S75I	probably damaging	Het
Pcare	G	T	17: 72,057,471 (GRCm39)	F735L	probably damaging	Het
Pdzrn4	A	G	15: 92,655,538 (GRCm39)	E477G	possibly damaging	Het
Rab5b	C	T	10: 128,518,772 (GRCm39)	R120Q	probably benign	Het
Rims2	G	T	15: 39,326,011 (GRCm39)		probably null	Het
Samd4b	C	T	7: 28,122,873 (GRCm39)	A62T	probably damaging	Het
Scamp1	T	C	13: 94,347,088 (GRCm39)	N192S	probably benign	Het
Scnn1g	T	C	7: 121,345,802 (GRCm39)		probably benign	Het
Setd1a	T	G	7: 127,387,358 (GRCm39)		probably benign	Het
Setdb1	A	G	3: 95,257,192 (GRCm39)		probably benign	Het
Slc2a7	T	C	4: 150,250,823 (GRCm39)	S415P	probably benign	Het
Sp140l2	G	T	1: 85,247,824 (GRCm39)		probably benign	Het
Strip2	A	T	6: 29,937,650 (GRCm39)	Y526F	possibly damaging	Het
Styxl2	T	A	1: 165,928,332 (GRCm39)	T427S	probably benign	Het
Syne2	A	G	12: 75,926,951 (GRCm39)	D69G	probably damaging	Het
Syt13	C	A	2: 92,745,596 (GRCm39)	A22E	probably benign	Het
Tm9sf2	T	C	14: 122,392,780 (GRCm39)	F432S	probably benign	Het
Vmn2r49	A	T	7: 9,710,357 (GRCm39)	W792R	probably damaging	Het
Zfp292	T	C	4: 34,808,227 (GRCm39)	S1606G	probably benign	Het
Zfp518a	A	T	19: 40,900,665 (GRCm39)	H198L	probably damaging	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
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
R2076:Ccne2	UTSW	4	11,197,177 (GRCm39)	missense	probably damaging	1.00
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'- CACTGCCCACCTTGGATAAGGAAC -3'
(R):5'- AAGTTGTGAACagccgggtgtg -3'

Sequencing Primer
(F):5'- TAGATGAAGTGCTCACCCTTCTAAC -3'
(R):5'- AGGGCTACACAGAGAAATCCTG -3'

Posted On

2013-04-24