Mutagenetix > Incidental Mutation

Incidental Mutation 'R8812:Ccne2'

672468

Institutional Source

Beutler Lab

Gene Symbol

Ccne2

Ensembl Gene

ENSMUSG00000028212

Gene Name

cyclin E2

Synonyms

MMRRC Submission

068647-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8812 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11191351-11204779 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11202279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 345 (T345A)

Ref Sequence

ENSEMBL: ENSMUSP00000103960 (fasta)

Gene Model

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

AlphaFold

Q9Z238

Predicted Effect

probably benign
Transcript: ENSMUST00000029866
AA Change: T344A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029866
Gene: ENSMUSG00000028212
AA Change: T344A

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
AA Change: T345A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103960
Gene: ENSMUSG00000028212
AA Change: T345A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170901
AA Change: T345A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130693
Gene: ENSMUSG00000028212
AA Change: T345A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,480,471 (GRCm39)	P1167Q	probably damaging	Het
Abtb3	A	G	10: 85,463,113 (GRCm39)	Q626R	probably damaging	Het
Adcy10	A	T	1: 165,378,867 (GRCm39)	Q885H	probably damaging	Het
Alkal2	C	T	12: 30,940,055 (GRCm39)	L139F	probably damaging	Het
Ankrd17	A	T	5: 90,441,062 (GRCm39)	M439K	probably benign	Het
Arl11	C	A	14: 61,548,422 (GRCm39)	Y77*	probably null	Het
Bcas3	T	C	11: 85,449,973 (GRCm39)	Y669H	probably benign	Het
Bpifb3	C	T	2: 153,764,516 (GRCm39)	A136V	probably benign	Het
Ciz1	T	C	2: 32,254,286 (GRCm39)	S76P	probably benign	Het
Clip4	A	T	17: 72,107,800 (GRCm39)	K94*	probably null	Het
Cthrc1	G	A	15: 38,947,866 (GRCm39)	R195H	probably damaging	Het
Ddx31	T	C	2: 28,730,816 (GRCm39)		probably benign	Het
Elf2	T	A	3: 51,174,188 (GRCm39)	D113V	possibly damaging	Het
Esrrb	A	G	12: 86,535,324 (GRCm39)	N155S	probably benign	Het
Flnb	A	G	14: 7,887,624 (GRCm38)	D478G	probably benign	Het
Galm	T	A	17: 80,435,215 (GRCm39)	L24H	probably damaging	Het
Gask1b	T	C	3: 79,816,078 (GRCm39)	S363P	possibly damaging	Het
Gon4l	G	A	3: 88,802,314 (GRCm39)	G975D	possibly damaging	Het
Hspbp1	T	G	7: 4,667,783 (GRCm39)	M237L	probably benign	Het
Ighv1-62-1	A	T	12: 115,350,367 (GRCm39)	M100K	probably damaging	Het
Ipo8	A	T	6: 148,676,575 (GRCm39)	D971E	possibly damaging	Het
Itgax	C	T	7: 127,732,979 (GRCm39)	A286V	probably damaging	Het
Jpt2	T	C	17: 25,179,578 (GRCm39)	Q3R	probably benign	Het
Katnip	A	C	7: 125,396,867 (GRCm39)	R309S	probably benign	Het
Klrg2	A	C	6: 38,613,838 (GRCm39)	L55R	probably damaging	Het
Lrp6	T	A	6: 134,433,141 (GRCm39)	M1397L	probably benign	Het
Lrrc31	T	A	3: 30,733,328 (GRCm39)	Q462L	probably benign	Het
Lyg2	T	A	1: 37,949,054 (GRCm39)	I103F	probably damaging	Het
Map10	T	C	8: 126,396,664 (GRCm39)	V19A	probably damaging	Het
Map1b	T	A	13: 99,569,323 (GRCm39)	M1133L	unknown	Het
Mrgpra4	A	G	7: 47,631,481 (GRCm39)	V40A	probably benign	Het
Myh1	G	A	11: 67,099,967 (GRCm39)	G626R	probably benign	Het
Myo9a	T	C	9: 59,687,030 (GRCm39)	V45A	probably benign	Het
Ncdn	A	G	4: 126,638,905 (GRCm39)	F638S	possibly damaging	Het
Ncs1	T	A	2: 31,174,213 (GRCm39)	M121K	probably damaging	Het
Nf1	T	C	11: 79,437,180 (GRCm39)	V16A	probably damaging	Het
Nktr	T	A	9: 121,579,317 (GRCm39)	D1128E	unknown	Het
Nup205	T	G	6: 35,191,269 (GRCm39)	L1000R	probably damaging	Het
Obscn	T	C	11: 58,925,921 (GRCm39)	E5604G	probably damaging	Het
Or1p4-ps1	T	A	11: 74,208,534 (GRCm39)	S228T	unknown	Het
Or2p2	T	C	13: 21,257,220 (GRCm39)	N84D	probably damaging	Het
Or4a68	A	G	2: 89,270,209 (GRCm39)	V138A	probably benign	Het
Or4c35	G	T	2: 89,808,715 (GRCm39)	A198S	possibly damaging	Het
Or51ah3	G	T	7: 103,209,816 (GRCm39)	C44F	probably benign	Het
Or5b96	A	T	19: 12,867,560 (GRCm39)	V127E	probably damaging	Het
Or7g12	A	G	9: 18,899,812 (GRCm39)	H176R	possibly damaging	Het
Ovch2	T	A	7: 107,392,462 (GRCm39)	I294F	probably damaging	Het
Ovch2	A	T	7: 107,393,251 (GRCm39)	C207*	probably null	Het
P3h2	T	A	16: 25,801,467 (GRCm39)	Y397F	possibly damaging	Het
Pappa	A	T	4: 65,123,166 (GRCm39)	I834F	possibly damaging	Het
Pcdha11	T	C	18: 37,140,716 (GRCm39)	S782P	probably benign	Het
Pex1	T	C	5: 3,681,614 (GRCm39)	V980A	probably benign	Het
Pik3c2a	G	T	7: 115,951,112 (GRCm39)	L1258I	probably damaging	Het
Pmp22	T	A	11: 63,049,239 (GRCm39)	*161R	probably null	Het
Ppp1r26	T	A	2: 28,341,192 (GRCm39)	M274K	probably benign	Het
Ppp6r2	T	C	15: 89,167,275 (GRCm39)	V830A	probably benign	Het
Pramel34	T	C	5: 93,785,660 (GRCm39)	T207A	possibly damaging	Het
Prss1	T	A	6: 41,439,520 (GRCm39)	N84K	probably benign	Het
Rab3il1	G	A	19: 10,004,141 (GRCm39)	A18T	probably damaging	Het
Sbf2	A	T	7: 109,929,069 (GRCm39)	S1471T	probably damaging	Het
Setdb1	T	A	3: 95,263,371 (GRCm39)	D45V	probably damaging	Het
Sik3	G	T	9: 46,089,811 (GRCm39)	V275L	probably benign	Het
Skint6	C	A	4: 112,846,149 (GRCm39)	M659I	probably benign	Het
Slc24a1	T	A	9: 64,835,985 (GRCm39)	D714V	unknown	Het
Slc26a5	T	A	5: 22,018,880 (GRCm39)	D653V	probably damaging	Het
Snrnp27	A	T	6: 86,653,196 (GRCm39)	C141S	probably benign	Het
Stradb	A	G	1: 59,033,478 (GRCm39)	I380M	probably benign	Het
Sult1e1	T	C	5: 87,735,501 (GRCm39)	Y59C	probably benign	Het
Tas2r122	C	T	6: 132,688,702 (GRCm39)	A64T	probably benign	Het
Tep1	C	T	14: 51,074,589 (GRCm39)	C1812Y	probably damaging	Het
Tln2	C	A	9: 67,128,693 (GRCm39)	E1465D	possibly damaging	Het
Trio	A	T	15: 27,905,311 (GRCm39)	C152S	unknown	Het
Tro	G	A	X: 149,438,555 (GRCm39)	S34L	unknown	Het
Vmn1r15	A	G	6: 57,235,123 (GRCm39)		probably benign	Het
Vmn1r19	A	G	6: 57,381,436 (GRCm39)		probably benign	Het
Vmn1r75	A	G	7: 11,614,630 (GRCm39)	T121A	possibly damaging	Het
Vmn2r32	A	G	7: 7,477,669 (GRCm39)	F241L	probably damaging	Het
Vmn2r66	A	G	7: 84,654,893 (GRCm39)	L472P	probably damaging	Het
Ylpm1	G	T	12: 85,043,566 (GRCm39)	W101C	unknown	Het
Zdbf2	C	A	1: 63,347,272 (GRCm39)	H1884N	probably benign	Het
Zfp1005	T	A	2: 150,109,624 (GRCm39)	C105S	possibly 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
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
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
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'- ACCCTCAAGAGAGTCAGATGAGTAG -3'
(R):5'- ACCCCATTAGTTTCAGGACTTAAC -3'

Sequencing Primer
(F):5'- TGTGCTACAGAATGACCCTTGAG -3'
(R):5'- GTTTCAGGACTTAACTAAATAGCACG -3'

Posted On

2021-04-30