Mutagenetix > Incidental Mutation

Incidental Mutation 'R7553:Ccne2'

584534

Institutional Source

Beutler Lab

Gene Symbol

Ccne2

Ensembl Gene

ENSMUSG00000028212

Gene Name

cyclin E2

Synonyms

MMRRC Submission

045622-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7553 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11191351-11204779 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11201348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 292 (Q292L)

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: Q291L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000029866
Gene: ENSMUSG00000028212
AA Change: Q291L

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: Q292L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000103960
Gene: ENSMUSG00000028212
AA Change: Q292L

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: Q292L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000130693
Gene: ENSMUSG00000028212
AA Change: Q292L

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (62/63)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,648,545 (GRCm39)	L649P	probably damaging	Het
Acad10	T	C	5: 121,777,318 (GRCm39)	Y371C	probably damaging	Het
Avp	A	G	2: 130,423,098 (GRCm39)	V71A	probably damaging	Het
Bhmt	C	T	13: 93,756,589 (GRCm39)		probably null	Het
Capn15	T	C	17: 26,179,738 (GRCm39)	E874G	probably damaging	Het
Capn5	A	G	7: 97,773,231 (GRCm39)	F591S	probably damaging	Het
Cd96	T	G	16: 45,872,384 (GRCm39)	T406P	probably damaging	Het
Csnk1e	G	A	15: 79,310,566 (GRCm39)	A153V	probably damaging	Het
Dlk1	G	A	12: 109,420,889 (GRCm39)	V15I	unknown	Het
Dmbt1	A	G	7: 130,706,597 (GRCm39)	N1372S	unknown	Het
Dntt	A	T	19: 41,017,926 (GRCm39)	R17W	probably damaging	Het
Erich3	G	T	3: 154,439,137 (GRCm39)	A260S	probably benign	Het
Foxp2	C	T	6: 15,437,881 (GRCm39)	S669L	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Grid2	A	G	6: 64,053,925 (GRCm39)	K375E	possibly damaging	Het
Grin2b	C	T	6: 135,749,394 (GRCm39)	G603S	possibly damaging	Het
Hexb	C	T	13: 97,334,681 (GRCm39)	R30Q	probably benign	Het
Homer3	A	T	8: 70,742,774 (GRCm39)	T162S	probably benign	Het
L3mbtl1	A	G	2: 162,790,151 (GRCm39)	E15G	probably benign	Het
Manea	A	T	4: 26,327,986 (GRCm39)	F352I	probably damaging	Het
Mcf2l	T	A	8: 13,047,268 (GRCm39)	M210K	probably benign	Het
Morc3	T	C	16: 93,667,824 (GRCm39)	L734P	probably damaging	Het
Mybpc2	A	G	7: 44,155,571 (GRCm39)	V894A	possibly damaging	Het
Myh4	T	A	11: 67,147,221 (GRCm39)	M1622K	probably damaging	Het
Myrf	A	G	19: 10,206,240 (GRCm39)	F59L	probably benign	Het
Ndst3	G	T	3: 123,350,709 (GRCm39)		probably null	Het
Nln	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	13: 104,186,924 (GRCm39)		probably null	Het
Nos3	A	T	5: 24,586,715 (GRCm39)	D986V	possibly damaging	Het
Nrp1	G	A	8: 129,158,468 (GRCm39)	A252T	probably damaging	Het
Nup205	G	T	6: 35,178,934 (GRCm39)	R668L	probably damaging	Het
Or51aa2	T	C	7: 103,188,363 (GRCm39)	Y26C	probably damaging	Het
Or5af2	T	A	11: 58,707,886 (GRCm39)	D17E	probably benign	Het
Or5p56	G	A	7: 107,589,682 (GRCm39)	V37I	probably benign	Het
Pcdhga1	T	A	18: 37,882,735 (GRCm39)		probably null	Het
Pck1	A	G	2: 172,998,860 (GRCm39)	I373V	probably benign	Het
Pde8b	T	C	13: 95,223,258 (GRCm39)	N227S	probably benign	Het
Pianp	T	G	6: 124,976,214 (GRCm39)	S8A	unknown	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pla2r1	A	T	2: 60,353,243 (GRCm39)	N239K	possibly damaging	Het
Pls1	T	A	9: 95,669,140 (GRCm39)	N27I	probably damaging	Het
Prep	T	C	10: 45,034,620 (GRCm39)	*711Q	probably null	Het
Prkag3	A	G	1: 74,783,894 (GRCm39)	F330L	probably damaging	Het
Prss56	A	G	1: 87,111,261 (GRCm39)	D16G	probably benign	Het
Rad17	A	T	13: 100,769,794 (GRCm39)	F255Y	probably damaging	Het
Rap1gap2	T	C	11: 74,326,548 (GRCm39)	E173G	probably damaging	Het
Retreg3	C	T	11: 100,997,216 (GRCm39)	R88H	possibly damaging	Het
Rhag	G	A	17: 41,139,286 (GRCm39)	G74R	probably damaging	Het
Rybp	A	G	6: 100,209,220 (GRCm39)	S201P	possibly damaging	Het
S100a10	G	A	3: 93,471,602 (GRCm39)	C62Y	probably benign	Het
Scgb2b3	T	A	7: 31,059,673 (GRCm39)	S34C	possibly damaging	Het
Serpind1	A	G	16: 17,154,539 (GRCm39)	D122G	probably benign	Het
Setdb1	A	G	3: 95,254,076 (GRCm39)	L242P	probably damaging	Het
Slc14a2	T	A	18: 78,198,803 (GRCm39)	I776F	probably damaging	Het
Slc9a1	A	G	4: 133,139,580 (GRCm39)	E266G	probably damaging	Het
Stard9	A	T	2: 120,524,289 (GRCm39)		probably null	Het
Stpg2	A	G	3: 138,924,098 (GRCm39)	Y167C	probably damaging	Het
Tex264	T	C	9: 106,536,335 (GRCm39)	E274G	probably damaging	Het
Tigd2	G	A	6: 59,188,564 (GRCm39)	S477N	probably benign	Het
Urb1	A	G	16: 90,589,752 (GRCm39)	L343P	probably damaging	Het
Vars2	A	T	17: 35,975,680 (GRCm39)	C246S	possibly damaging	Het
Vil1	G	A	1: 74,465,891 (GRCm39)		probably null	Het
Vmn2r61	C	G	7: 41,916,205 (GRCm39)	L273V	not run	Het
Vmn2r-ps158	T	G	7: 42,697,447 (GRCm39)	C835G	probably damaging	Het
Zfp37	C	A	4: 62,110,236 (GRCm39)	G317V	probably damaging	Het
Zfp760	A	G	17: 21,941,872 (GRCm39)	K349R	possibly damaging	Het
Zyx	A	T	6: 42,327,408 (GRCm39)	E69V	probably null	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
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'- TGAAGTGCTCACCCTTCTAAC -3'
(R):5'- TCCACTTGGCTGGGAATTTATTTTC -3'

Sequencing Primer
(F):5'- ACATTATCACTGTGCTCCTAGAAC -3'
(R):5'- GTGAACAGGTACAAAGTCAAC -3'

Posted On

2019-10-17