Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02208:Cdca2'

284577

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: 0.110) question?

Stock #

IGL02208

Quality Score

Status

Chromosome

Chromosomal Location

67676331-67715841 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 67713140 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 114 (R114Q)

Ref Sequence

ENSEMBL: ENSMUSP00000116384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078053] [ENSMUST00000124045] [ENSMUST00000125212] [ENSMUST00000132705] [ENSMUST00000145542] [ENSMUST00000150006] [ENSMUST00000150768] [ENSMUST00000152243] [ENSMUST00000156700] [ENSMUST00000163100]

Predicted Effect

probably benign
Transcript: ENSMUST00000078053

SMART Domains

Protein: ENSMUSP00000077200
Gene: ENSMUSG00000034327

Domain	Start	End	E-Value	Type
Pfam:DUF3354	1	65	3.5e-22	PFAM
BTB	89	192	1.76e-16	SMART
Pfam:Pentapeptide	253	292	1e-14	PFAM
Pfam:Pentapeptide_4	258	334	2.7e-15	PFAM
Pfam:Pentapeptide	288	327	6.8e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000124045
AA Change: R114Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000125212

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132705
AA Change: R114Q

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115633
Gene: ENSMUSG00000048922
AA Change: R114Q

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: ENSMUST00000145542

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150006
AA Change: R114Q

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117847
Gene: ENSMUSG00000048922
AA Change: R114Q

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

probably benign
Transcript: ENSMUST00000150768

SMART Domains

Protein: ENSMUSP00000114489
Gene: ENSMUSG00000034327

Domain	Start	End	E-Value	Type
Pfam:KHA	2	64	1.4e-21	PFAM
BTB	89	192	1.76e-16	SMART
Pfam:Pentapeptide	219	255	9.3e-8	PFAM
Pfam:Pentapeptide	248	280	9.3e-11	PFAM
Pfam:Pentapeptide	258	297	3e-10	PFAM
Pfam:Pentapeptide	303	342	3.2e-13	PFAM
Pfam:Pentapeptide_4	308	384	3.3e-13	PFAM
Pfam:Pentapeptide	338	377	2.1e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152243

SMART Domains

Protein: ENSMUSP00000120440
Gene: ENSMUSG00000034327

Domain	Start	End	E-Value	Type
Pfam:BTB_2	1	70	1.3e-13	PFAM
Pfam:BTB	1	78	6.2e-7	PFAM
Pfam:Pentapeptide	105	137	4.3e-8	PFAM
Pfam:Pentapeptide	134	166	5.5e-11	PFAM
Pfam:Pentapeptide	144	183	1.5e-10	PFAM
Pfam:Pentapeptide_4	165	239	5.3e-9	PFAM
Pfam:Pentapeptide	189	228	1.7e-13	PFAM
Pfam:Pentapeptide	209	237	9.3e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155312

Predicted Effect

probably benign
Transcript: ENSMUST00000156700

SMART Domains

Protein: ENSMUSP00000115002
Gene: ENSMUSG00000034327

Domain	Start	End	E-Value	Type
Pfam:DUF3354	1	65	2.5e-23	PFAM
SCOP:d3kvt__	89	107	9e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163100
AA Change: R114Q

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127571
Gene: ENSMUSG00000048922
AA Change: R114Q

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 110,059,946	Y898H	probably damaging	Het
Abr	T	C	11: 76,455,645	T484A	probably damaging	Het
Ahsg	G	A	16: 22,892,310	V66I	possibly damaging	Het
Arhgef5	T	G	6: 43,275,130	D938E	probably benign	Het
Asap1	T	A	15: 64,122,033	E731V	probably damaging	Het
Dock5	A	G	14: 67,828,450	I368T	probably benign	Het
Dse	T	A	10: 34,152,437	M886L	probably benign	Het
Efcab11	A	G	12: 99,854,602		probably benign	Het
Eri2	G	A	7: 119,785,935	P448S	probably benign	Het
Gm9999	T	C	7: 46,983,824		probably benign	Het
Iffo1	A	G	6: 125,145,366	D37G	possibly damaging	Het
Lrrc39	A	T	3: 116,578,274	Q230L	probably damaging	Het
Macrod2	C	A	2: 142,374,276	S443Y	possibly damaging	Het
Map4	T	A	9: 109,978,870	M1K	probably null	Het
Myh4	G	A	11: 67,251,934	A974T	possibly damaging	Het
Npm3	T	C	19: 45,748,860	T72A	probably benign	Het
Olfr125	T	C	17: 37,835,524	F175S	probably damaging	Het
P3h4	T	C	11: 100,414,075	N162S	probably damaging	Het
Pcnx2	G	T	8: 125,752,155	T2118N	probably benign	Het
Pla2r1	G	T	2: 60,428,588	P1152Q	possibly damaging	Het
Pole2	C	T	12: 69,223,162	E63K	possibly damaging	Het
Polr3e	T	A	7: 120,932,140	F151I	probably damaging	Het
Prdm2	T	C	4: 143,135,743	T326A	probably benign	Het
Prdm8	G	T	5: 98,183,465	A59S	possibly damaging	Het
Reps1	A	G	10: 18,119,022	N538S	probably damaging	Het
Scube1	T	C	15: 83,703,540	D76G	probably damaging	Het
Senp6	T	C	9: 80,113,943	F302L	probably damaging	Het
Skiv2l	A	T	17: 34,841,675	I822N	probably damaging	Het
Slc17a7	T	C	7: 45,170,943	I299T	probably damaging	Het
Slc25a26	T	A	6: 94,507,539	V20E	probably damaging	Het
Spem2	T	C	11: 69,817,263		probably null	Het
Stat5b	A	C	11: 100,804,913	F81C	probably damaging	Het
Taf6	A	T	5: 138,180,907	V423E	probably damaging	Het
Tcaf2	T	A	6: 42,629,086	Y551F	probably damaging	Het
Tgm6	A	T	2: 130,135,870	D43V	probably benign	Het
Tubb3	G	T	8: 123,420,864	V179L	probably damaging	Het
Ubr1	G	A	2: 120,946,349	H304Y	probably benign	Het
Vmn2r56	T	G	7: 12,715,481	M277L	probably benign	Het
Wdr72	G	A	9: 74,157,299	V538M	probably damaging	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
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
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

2015-04-16