Mutagenetix > Incidental Mutation

Incidental Mutation 'R3718:Ccna2'

258783

Institutional Source

Beutler Lab

Gene Symbol

Ccna2

Ensembl Gene

ENSMUSG00000027715

Gene Name

cyclin A2

Synonyms

Ccn1, Ccna, Cyca, Ccn-1, CycA2

MMRRC Submission

040710-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3718 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36619014-36626299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36620387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 285 (V285E)

Ref Sequence

ENSEMBL: ENSMUSP00000142946 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029269] [ENSMUST00000029270] [ENSMUST00000147380] [ENSMUST00000155866] [ENSMUST00000196316]

AlphaFold

P51943

Predicted Effect

probably benign
Transcript: ENSMUST00000029269

SMART Domains

Protein: ENSMUSP00000029269
Gene: ENSMUSG00000027714

Domain	Start	End	E-Value	Type
Pfam:RNase_PH	31	163	1.7e-25	PFAM
Pfam:RNase_PH_C	189	255	3.4e-14	PFAM
low complexity region	308	324	N/A	INTRINSIC
low complexity region	348	366	N/A	INTRINSIC
low complexity region	396	406	N/A	INTRINSIC
low complexity region	425	435	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000029270
AA Change: V422E

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000029270
Gene: ENSMUSG00000027715
AA Change: V422E

Domain	Start	End	E-Value	Type
Pfam:Cyclin_N2	22	157	7.2e-50	PFAM
CYCLIN	206	290	1.07e-28	SMART
Cyclin_C	299	417	4.09e-31	SMART
CYCLIN	303	386	1.02e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131316

SMART Domains

Protein: ENSMUSP00000117235
Gene: ENSMUSG00000027714

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	47	65	N/A	INTRINSIC
low complexity region	95	105	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133854

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145309

Predicted Effect

probably benign
Transcript: ENSMUST00000147380

Predicted Effect

probably benign
Transcript: ENSMUST00000155866

SMART Domains

Protein: ENSMUSP00000122189
Gene: ENSMUSG00000027714

Domain	Start	End	E-Value	Type
Pfam:RNase_PH	31	163	2.6e-25	PFAM
Pfam:RNase_PH_C	189	241	1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196316
AA Change: V285E

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000142946
Gene: ENSMUSG00000027715
AA Change: V285E

Domain	Start	End	E-Value	Type
CYCLIN	69	153	6.6e-31	SMART
Cyclin_C	162	280	2e-35	SMART
CYCLIN	166	249	6.1e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156575

Predicted Effect

probably benign
Transcript: ENSMUST00000156100

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

97% (36/37)

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 function as regulators of the cell cycle. This protein binds and activates cyclin-dependent kinase 2 and thus promotes transition through G1/S and G2/M. [provided by RefSeq, Aug 2016]
PHENOTYPE: Embryos homozygous for a targeted mutation implant in the uterine wall, but fail to develop past 5.5 dpc. Notably, mutant embryos develop normally from the four-cell to the post-implantation stage in the absence of detectable maternally-derived gene products. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abra	T	C	15: 41,729,689 (GRCm39)	D237G	probably benign	Het
Alas2	T	C	X: 149,343,726 (GRCm39)		probably benign	Het
Ano6	A	G	15: 95,811,260 (GRCm39)	D120G	probably damaging	Het
Aspm	T	C	1: 139,408,627 (GRCm39)	Y2505H	probably benign	Het
Aspm	G	A	1: 139,418,165 (GRCm39)	V2965I	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnajc10	A	G	2: 80,155,089 (GRCm39)		probably benign	Het
Dpp3	A	G	19: 4,973,093 (GRCm39)		probably null	Het
Gng11	G	A	6: 4,008,078 (GRCm39)	R47H	probably benign	Het
Hivep1	C	T	13: 42,311,971 (GRCm39)	H1404Y	probably damaging	Het
Il18r1	A	G	1: 40,534,948 (GRCm39)	E381G	probably benign	Het
Il9	G	A	13: 56,627,264 (GRCm39)	T116I	probably damaging	Het
Kcnh1	A	G	1: 191,921,107 (GRCm39)	T129A	probably damaging	Het
Mroh7	T	C	4: 106,561,407 (GRCm39)	E612G	probably benign	Het
Nav1	A	T	1: 135,378,368 (GRCm39)	I1653K	probably damaging	Het
Neb	T	C	2: 52,167,482 (GRCm39)	E1948G	probably damaging	Het
Ntsr1	T	C	2: 180,184,499 (GRCm39)	F401L	probably benign	Het
Nup210	A	T	6: 90,997,162 (GRCm39)	D1626E	probably benign	Het
Or10q12	A	G	19: 13,746,428 (GRCm39)	R241G	probably damaging	Het
Or4k35	A	G	2: 111,100,571 (GRCm39)	V47A	probably benign	Het
Or8g26	A	G	9: 39,096,361 (GRCm39)	R293G	probably damaging	Het
Pign	A	G	1: 105,577,006 (GRCm39)		probably null	Het
Rad54l2	A	G	9: 106,570,726 (GRCm39)	V1198A	probably benign	Het
Sh3tc2	T	C	18: 62,123,414 (GRCm39)	V725A	probably benign	Het
Skint10	A	T	4: 112,603,936 (GRCm39)	W84R	probably damaging	Het
Slc40a1	G	T	1: 45,950,151 (GRCm39)	H434N	probably benign	Het
Trdv2-1	T	C	14: 54,183,995 (GRCm39)	Y76H	probably benign	Het
Trim43c	T	C	9: 88,727,030 (GRCm39)	S286P	probably benign	Het
Ttn	G	A	2: 76,575,558 (GRCm39)	P25112S	probably damaging	Het
Ubac1	C	T	2: 25,904,953 (GRCm39)	R95H	probably damaging	Het
Vps13d	A	G	4: 144,802,296 (GRCm39)	I405T	probably damaging	Het
Zc3hav1l	G	T	6: 38,272,060 (GRCm39)	S236R	probably damaging	Het

Other mutations in Ccna2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1170:Ccna2	UTSW	3	36,623,119 (GRCm39)	splice site	probably benign
R1559:Ccna2	UTSW	3	36,624,879 (GRCm39)	splice site	probably benign
R2122:Ccna2	UTSW	3	36,622,875 (GRCm39)	missense	probably damaging	1.00
R4749:Ccna2	UTSW	3	36,620,391 (GRCm39)	missense	probably benign	0.00
R5037:Ccna2	UTSW	3	36,625,152 (GRCm39)	start gained	probably benign
R6499:Ccna2	UTSW	3	36,625,112 (GRCm39)	missense	probably damaging	1.00
R7043:Ccna2	UTSW	3	36,624,302 (GRCm39)	utr 5 prime	probably benign
R7437:Ccna2	UTSW	3	36,625,239 (GRCm39)	start gained	probably benign
Z1177:Ccna2	UTSW	3	36,625,850 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTTGACAGTTGGCAGCAC -3'
(R):5'- GCAGATGTATGTGCTCTACGTATC -3'

Sequencing Primer
(F):5'- GGCAGCACCAATGTTAACC -3'
(R):5'- TCCAGTCTTGGGGTACATG -3'

Posted On

2015-01-23