Mutagenetix > Incidental Mutation

Incidental Mutation 'R0368:Cdca2'

30338

Institutional Source

Beutler Lab

Gene Symbol

Cdca2

Ensembl Gene

ENSMUSG00000048922

Gene Name

cell division cycle associated 2

Synonyms

2610311M19Rik

MMRRC Submission

038574-MU

Accession Numbers

Genbank: NM_001110162, NM_175384

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R0368 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67676331-67715841 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67700347 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 286 (S286P)

Ref Sequence

ENSEMBL: ENSMUSP00000116384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124045] [ENSMUST00000132705] [ENSMUST00000150006] [ENSMUST00000163100]

AlphaFold

Q14B71

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124045
AA Change: S286P

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000130922

Predicted Effect

probably benign
Transcript: ENSMUST00000131179

SMART Domains

Protein: ENSMUSP00000123664
Gene: ENSMUSG00000048922

Domain	Start	End	E-Value	Type
low complexity region	70	83	N/A	INTRINSIC
low complexity region	97	111	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132705
AA Change: S286P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000115633
Gene: ENSMUSG00000048922
AA Change: S286P

Domain	Start	End	E-Value	Type
Pfam:PP1_bind	378	437	4.3e-28	PFAM
low complexity region	515	528	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150006
AA Change: S286P

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000117847
Gene: ENSMUSG00000048922
AA Change: S286P

Domain	Start	End	E-Value	Type
Pfam:PP1_bind	378	437	5.4e-28	PFAM
low complexity region	515	528	N/A	INTRINSIC
low complexity region	542	556	N/A	INTRINSIC
low complexity region	931	942	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155312

Predicted Effect

probably benign
Transcript: ENSMUST00000163100
AA Change: S286P

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000127571
Gene: ENSMUSG00000048922
AA Change: S286P

Domain	Start	End	E-Value	Type
Pfam:PP1_bind	379	436	4.1e-27	PFAM
low complexity region	515	528	N/A	INTRINSIC
low complexity region	542	556	N/A	INTRINSIC
low complexity region	931	942	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a targeting subunit of the cell-cycle associated protein, protein phosphatase 1, with a role in targeting this protein to chromatin during anaphase. These two proteins comprise a phosphatase complex that is involved in nuclear envelope reformation and regulation of the DNA damage response. The encoded protein may also play a role in cancer progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Allele List at MGI

All alleles(24) : Gene trapped(24)

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	T	19: 9,008,350	K2333*	probably null	Het
Aox4	C	T	1: 58,213,079	L38F	probably benign	Het
Arhgef15	T	C	11: 68,954,693	E111G	probably damaging	Het
Atp8a2	A	T	14: 59,860,212	I789N	probably damaging	Het
Chrnb1	T	A	11: 69,784,757	K457M	probably damaging	Het
Clec2g	A	G	6: 128,980,261	I61V	possibly damaging	Het
Cyb5r3	G	A	15: 83,158,792	A233V	probably benign	Het
Cyp4a10	T	A	4: 115,525,377	L278*	probably null	Het
Dnmt1	T	C	9: 20,941,757	E56G	probably damaging	Het
Fam160b1	A	G	19: 57,368,578	T34A	possibly damaging	Het
Fam166a	T	A	2: 25,220,673	D164E	probably benign	Het
Fbln5	A	G	12: 101,809,714		probably null	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gabrr3	A	G	16: 59,440,596	D289G	probably damaging	Het
Gpr45	T	C	1: 43,033,016	L273P	probably damaging	Het
Hkdc1	T	C	10: 62,411,707	E125G	probably null	Het
Il25	A	G	14: 54,935,174		probably null	Het
Itfg1	A	T	8: 85,764,407	W298R	probably damaging	Het
Kank1	A	T	19: 25,410,603	K547*	probably null	Het
Lama5	G	A	2: 180,181,230	R2748*	probably null	Het
Lrp4	C	T	2: 91,477,734	T508I	probably damaging	Het
Map3k10	C	T	7: 27,663,360	V434I	probably damaging	Het
Map3k6	A	G	4: 133,252,659	M1265V	probably benign	Het
Mocs3	C	T	2: 168,231,682	P350S	probably benign	Het
Msh4	T	A	3: 153,888,825	Y113F	probably damaging	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Nrip1	A	G	16: 76,294,016	S218P	probably damaging	Het
Olfr1281	T	C	2: 111,328,787	Y123H	probably damaging	Het
Olfr1287	T	C	2: 111,449,788	I216T	probably benign	Het
Olig1	C	T	16: 91,270,652	S259F	probably damaging	Het
Osbpl9	A	G	4: 109,066,932	V499A	probably damaging	Het
Pafah2	T	C	4: 134,422,491	V371A	probably benign	Het
Pkp1	T	A	1: 135,875,683	M712L	probably benign	Het
Pkp1	T	C	1: 135,886,852	S244G	probably benign	Het
Ppp1r3a	T	C	6: 14,718,960	T652A	probably benign	Het
Rab21	A	T	10: 115,298,890	V108E	probably damaging	Het
Rab5b	C	T	10: 128,682,903	R120Q	probably benign	Het
Scd2	G	A	19: 44,301,246	V227I	probably benign	Het
Sema5b	T	A	16: 35,628,100	V82E	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Slc13a2	A	T	11: 78,404,800	L80*	probably null	Het
Slc1a5	C	T	7: 16,782,178	P93L	probably damaging	Het
Slc35b2	T	C	17: 45,566,463	V172A	probably benign	Het
Slfn8	A	G	11: 83,017,132	L195P	probably damaging	Het
Smox	G	A	2: 131,522,158	S320N	probably damaging	Het
Sptan1	T	C	2: 29,993,915	V589A	probably benign	Het
Stim2	G	A	5: 54,110,140		probably null	Het
V1ra8	A	G	6: 90,202,962	D49G	probably damaging	Het
Vmn1r233	A	T	17: 20,994,607	V27D	possibly damaging	Het
Vmn2r98	A	T	17: 19,065,827	K196*	probably null	Het
Wdr77	T	C	3: 105,962,066		probably null	Het

Other mutations in Cdca2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01115:Cdca2	APN	14	67714697	missense	probably damaging	0.99
IGL01413:Cdca2	APN	14	67677894	missense	probably damaging	0.98
IGL01962:Cdca2	APN	14	67705723	missense	probably damaging	0.99
IGL01982:Cdca2	APN	14	67677719	missense	probably damaging	0.98
IGL02198:Cdca2	APN	14	67694996	missense	probably benign	0.00
IGL02208:Cdca2	APN	14	67713140	missense	probably damaging	0.99
IGL02883:Cdca2	APN	14	67707497	missense	probably damaging	1.00
IGL03069:Cdca2	APN	14	67714936	splice site	probably benign
F5493:Cdca2	UTSW	14	67677692	missense	probably damaging	0.99
IGL03046:Cdca2	UTSW	14	67700022	intron	probably benign
R0254:Cdca2	UTSW	14	67677178	missense	probably damaging	0.99
R0350:Cdca2	UTSW	14	67713119	missense	probably benign	0.02
R0398:Cdca2	UTSW	14	67697962	missense	probably damaging	0.98
R0790:Cdca2	UTSW	14	67680291	missense	probably benign
R1104:Cdca2	UTSW	14	67693682	missense	probably damaging	0.99
R1474:Cdca2	UTSW	14	67714906	intron	probably benign
R1658:Cdca2	UTSW	14	67677699	missense	possibly damaging	0.93
R1782:Cdca2	UTSW	14	67677811	missense	probably benign	0.22
R2150:Cdca2	UTSW	14	67714809	missense	probably damaging	1.00
R2154:Cdca2	UTSW	14	67676976	missense	probably damaging	0.99
R2155:Cdca2	UTSW	14	67714838	missense	probably damaging	1.00
R2862:Cdca2	UTSW	14	67698090	missense	probably damaging	1.00
R3156:Cdca2	UTSW	14	67698163	missense	possibly damaging	0.91
R3840:Cdca2	UTSW	14	67680271	nonsense	probably null
R4043:Cdca2	UTSW	14	67704006	missense	probably benign	0.11
R4293:Cdca2	UTSW	14	67714850	missense	probably benign	0.06
R4679:Cdca2	UTSW	14	67714966	missense	possibly damaging	0.68
R4777:Cdca2	UTSW	14	67713140	missense	probably damaging	0.99
R4829:Cdca2	UTSW	14	67693753	critical splice acceptor site	probably null
R4843:Cdca2	UTSW	14	67676976	missense	probably damaging	1.00
R5031:Cdca2	UTSW	14	67713153	missense	probably damaging	1.00
R5181:Cdca2	UTSW	14	67680165	missense	probably damaging	0.98
R5331:Cdca2	UTSW	14	67677471	missense	possibly damaging	0.91
R5490:Cdca2	UTSW	14	67680284	missense	possibly damaging	0.91
R5695:Cdca2	UTSW	14	67705629	critical splice donor site	probably null
R6246:Cdca2	UTSW	14	67677828	nonsense	probably null
R6866:Cdca2	UTSW	14	67693666	missense	possibly damaging	0.92
R6928:Cdca2	UTSW	14	67705744	missense	probably damaging	0.98
R6955:Cdca2	UTSW	14	67715004	start codon destroyed	probably null	0.53
R6986:Cdca2	UTSW	14	67694997	missense	probably benign	0.27
R7080:Cdca2	UTSW	14	67698102	missense	probably damaging	0.99
R7092:Cdca2	UTSW	14	67707351	critical splice donor site	probably null
R7292:Cdca2	UTSW	14	67677877	nonsense	probably null
R7308:Cdca2	UTSW	14	67694991	missense	probably benign
R7310:Cdca2	UTSW	14	67713224	missense	probably damaging	1.00
R7877:Cdca2	UTSW	14	67677216	missense	probably benign
R8012:Cdca2	UTSW	14	67677372	missense	probably benign	0.23
R8080:Cdca2	UTSW	14	67677555	nonsense	probably null
R8772:Cdca2	UTSW	14	67698080	missense	probably damaging	0.98
R9123:Cdca2	UTSW	14	67680313	missense	probably benign	0.03
R9125:Cdca2	UTSW	14	67680313	missense	probably benign	0.03
R9252:Cdca2	UTSW	14	67677382	missense	possibly damaging	0.93
R9328:Cdca2	UTSW	14	67693682	missense	probably damaging	0.99
R9406:Cdca2	UTSW	14	67700323	missense	unknown
R9667:Cdca2	UTSW	14	67677554	missense	probably benign	0.01
R9678:Cdca2	UTSW	14	67700329	missense	unknown
Z1088:Cdca2	UTSW	14	67700298	missense	probably benign	0.12
Z1177:Cdca2	UTSW	14	67680244	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACACCAGTGTGACACATGGA -3'
(R):5'- ACCGTCTTGGTAAGTGTTGTGAGTATCT -3'

Sequencing Primer
(F):5'- AGTGTGACACATGGATCTCC -3'
(R):5'- ATCTTGTGCCTGGAAGGAGC -3'

Posted On

2013-04-24