Mutagenetix > Incidental Mutations

Incidental Mutation 'R0350:Cdca2'

29667

Institutional Source

Beutler Lab

Gene Symbol

Cdca2

Ensembl Gene

ENSMUSG00000048922

Gene Name

cell division cycle associated 2

Synonyms

2610311M19Rik

MMRRC Submission

038557-MU

Accession Numbers

Genbank: NM_001110162, NM_175384

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R0350 (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 67713119 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 121 (L121P)

Ref Sequence

ENSEMBL: ENSMUSP00000117847 (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 benign
Transcript: ENSMUST00000124045
AA Change: L121P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000125212

Predicted Effect

probably benign
Transcript: ENSMUST00000132705
AA Change: L121P

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

SMART Domains

Protein: ENSMUSP00000115633
Gene: ENSMUSG00000048922
AA Change: L121P

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

probably benign
Transcript: ENSMUST00000150006
AA Change: L121P

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

SMART Domains

Protein: ENSMUSP00000117847
Gene: ENSMUSG00000048922
AA Change: L121P

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

probably benign
Transcript: ENSMUST00000163100
AA Change: L121P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000127571
Gene: ENSMUSG00000048922
AA Change: L121P

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: 99.0%
3x: 97.9%
10x: 95.2%
20x: 89.2%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	T	A	8: 9,987,600	Y66N	probably damaging	Het
Apol6	C	T	15: 77,050,947	Q139*	probably null	Het
Armh1	C	A	4: 117,215,556	E244*	probably null	Het
BC052040	T	C	2: 115,776,930	Y255H	possibly damaging	Het
Ccdc130	C	T	8: 84,260,648	E99K	probably damaging	Het
Cd1d1	A	T	3: 86,997,573	H219Q	probably benign	Het
Cog4	T	A	8: 110,853,696	L133I	possibly damaging	Het
Csf1	T	C	3: 107,748,606	M370V	probably benign	Het
Ddi2	G	A	4: 141,685,523	T26M	probably benign	Het
Dhcr7	A	G	7: 143,837,770	D32G	probably damaging	Het
Exd1	T	C	2: 119,523,566	N337S	possibly damaging	Het
Flii	T	C	11: 60,721,857	D227G	probably damaging	Het
Gm11639	T	C	11: 104,690,880	V16A	probably benign	Het
Hsf1	A	G	15: 76,500,479	T485A	probably benign	Het
Igfn1	G	A	1: 135,956,767	R2614*	probably null	Het
Iqch	T	C	9: 63,500,876	T630A	probably benign	Het
Itgal	T	A	7: 127,322,081	D770E	probably damaging	Het
Mroh1	T	A	15: 76,432,249	V759E	probably damaging	Het
Mrps17	A	G	5: 129,718,145		probably benign	Het
Mtpap	A	G	18: 4,396,195	S496G	possibly damaging	Het
Nkd1	T	A	8: 88,585,216	Y39*	probably null	Het
Nmd3	A	G	3: 69,743,574	Y359C	probably damaging	Het
Nr1h3	G	A	2: 91,191,825	L153F	possibly damaging	Het
Nuf2	T	A	1: 169,513,543		probably null	Het
Olfr1218	T	A	2: 89,055,356	K23N	probably benign	Het
Olfr1272	T	C	2: 90,282,582		probably null	Het
Olfr870	A	T	9: 20,170,736	Y278*	probably null	Het
Pnn	T	C	12: 59,067,117		probably null	Het
Ppm1j	A	G	3: 104,783,371	D230G	probably benign	Het
Ppp1r15a	A	T	7: 45,523,018	L650Q	probably damaging	Het
Prss37	T	C	6: 40,514,959	E229G	probably damaging	Het
Rbm19	T	C	5: 120,128,307	V465A	possibly damaging	Het
Rubcnl	G	T	14: 75,040,891	V372F	probably damaging	Het
Sema6a	G	T	18: 47,270,718	D595E	probably benign	Het
Slc35c1	A	G	2: 92,459,032	F43S	probably damaging	Het
Slc39a5	C	T	10: 128,396,750		probably null	Het
Slco4c1	A	G	1: 96,828,849	F583L	probably benign	Het
Sox9	A	G	11: 112,784,876	Y297C	probably damaging	Het
Taf1b	A	G	12: 24,514,885	D167G	possibly damaging	Het
Trpm6	T	C	19: 18,883,957		probably null	Het
Uba6	A	C	5: 86,144,378	V402G	possibly damaging	Het
Usp43	T	C	11: 67,876,498	Y682C	probably damaging	Het
Vmn1r195	A	G	13: 22,279,233	D291G	probably damaging	Het
Xpr1	A	T	1: 155,330,468	F156Y	probably damaging	Het
Zfp318	T	A	17: 46,413,198	H2042Q	probably benign	Het
Zfp937	T	A	2: 150,239,302	D417E	possibly 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
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
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
R8012:Cdca2	UTSW	14	67677372	missense	probably benign	0.23
R8080:Cdca2	UTSW	14	67677555	nonsense	probably null
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'- AACTATTTCGCCTGCTAGGGCAC -3'
(R):5'- AAGCCCCAGCTTCTGACCATTG -3'

Sequencing Primer
(F):5'- TGCCCAGCCAGTAGTTATG -3'
(R):5'- TGACCATTGCCATGTTCCG -3'

Posted On

2013-04-24