Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02883:Cdca2'

362890

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdca2

Ensembl Gene

ENSMUSG00000048922

Gene Name

cell division cycle associated 2

Synonyms

2610311M19Rik

Accession Numbers

Genbank: NM_001110162, NM_175384

Is this an essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

IGL02883

Quality Score

Status

Chromosome

Chromosomal Location

67676331-67715841 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67707497 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 133 (S133G)

Ref Sequence

ENSEMBL: ENSMUSP00000127571 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000124045
AA Change: S133G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132705
AA Change: S133G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115633
Gene: ENSMUSG00000048922
AA Change: S133G

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

possibly damaging
Transcript: ENSMUST00000150006
AA Change: S133G

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117847
Gene: ENSMUSG00000048922
AA Change: S133G

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 damaging
Transcript: ENSMUST00000163100
AA Change: S133G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127571
Gene: ENSMUSG00000048922
AA Change: S133G

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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,716,972	S186R	possibly damaging	Het
Acap2	A	G	16: 31,096,345		probably benign	Het
Cacna1h	G	T	17: 25,380,532	R1726S	probably damaging	Het
Cep295nl	A	T	11: 118,333,909	S36R	probably benign	Het
Crispld1	A	G	1: 17,746,789	N190S	possibly damaging	Het
Crtam	A	G	9: 40,994,501	V44A	probably benign	Het
Crtc1	C	T	8: 70,406,125	G112S	probably benign	Het
Cyp17a1	T	C	19: 46,669,351	N254S	probably benign	Het
Dmrta1	T	C	4: 89,688,774	S156P	probably benign	Het
Eno2	A	C	6: 124,766,209	V188G	probably damaging	Het
Fam20a	A	T	11: 109,675,127	I427N	probably damaging	Het
Fat2	T	C	11: 55,256,618	K3933E	probably benign	Het
Gm15448	A	G	7: 3,822,180	S488P	possibly damaging	Het
Igkv8-30	T	C	6: 70,117,617	M1V	probably null	Het
Ist1	G	A	8: 109,683,668		probably benign	Het
Kank4	T	C	4: 98,773,453	E765G	possibly damaging	Het
Kat14	T	C	2: 144,393,529	L92S	probably damaging	Het
Kcnu1	G	A	8: 25,849,827	V58I	probably benign	Het
Lrba	T	A	3: 86,354,206	V1489E	probably damaging	Het
Lrba	T	A	3: 86,445,413	I1956N	probably damaging	Het
Mdn1	G	A	4: 32,763,199	V5100I	probably benign	Het
Mkrn2os	C	A	6: 115,586,709	G122*	probably null	Het
Nme3	T	C	17: 24,896,906	Y78H	probably benign	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Ppp2r5c	T	G	12: 110,522,563	V56G	possibly damaging	Het
Pramef25	T	C	4: 143,949,848	T229A	possibly damaging	Het
Prdm10	G	A	9: 31,327,348	V179M	probably damaging	Het
Rab11fip2	A	G	19: 59,906,998	V344A	probably damaging	Het
Selp	G	A	1: 164,130,102	A267T	probably benign	Het
Sf3a1	T	A	11: 4,179,192	W718R	probably damaging	Het
Taar9	T	C	10: 24,109,480	N19D	probably benign	Het
Tas2r113	T	G	6: 132,893,419	S137A	probably damaging	Het
Traf4	A	T	11: 78,161,621	I66N	possibly damaging	Het
Ucp3	A	T	7: 100,480,642	T164S	probably benign	Het
Uggt1	A	T	1: 36,177,615	N96K	probably benign	Het
Uqcc1	T	A	2: 155,911,829	Q42L	possibly damaging	Het
Vmn1r128	A	G	7: 21,349,515	K48R	probably benign	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
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
R0368:Cdca2	UTSW	14	67700347	missense	possibly damaging	0.89
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
R7960:Cdca2	UTSW	14	67677216	missense	probably benign
R8012:Cdca2	UTSW	14	67677372	missense	probably benign	0.23
Z1088:Cdca2	UTSW	14	67700298	missense	probably benign	0.12
Z1177:Cdca2	UTSW	14	67680244	missense	probably damaging	1.00

Posted On

2015-12-18