Mutagenetix > Incidental Mutation

Incidental Mutation 'R5031:Cdca2'

391711

Institutional Source

Beutler Lab

Gene Symbol

Cdca2

Ensembl Gene

ENSMUSG00000048922

Gene Name

cell division cycle associated 2

Synonyms

2610311M19Rik

MMRRC Submission

042622-MU

Accession Numbers

Genbank: NM_001110162, NM_175384

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R5031 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

67676331-67715841 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67713153 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 110 (I110F)

Ref Sequence

ENSEMBL: ENSMUSP00000127571 (fasta)

Gene Model

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

AlphaFold

Q14B71

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: I110F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000125212

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132705
AA Change: I110F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115633
Gene: ENSMUSG00000048922
AA Change: I110F

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: I110F

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

SMART Domains

Protein: ENSMUSP00000117847
Gene: ENSMUSG00000048922
AA Change: I110F

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 damaging
Transcript: ENSMUST00000163100
AA Change: I110F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000127571
Gene: ENSMUSG00000048922
AA Change: I110F

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

Meta Mutation Damage Score

0.0699

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 89.9%

Validation Efficiency

100% (52/52)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	G	1: 105,664,514	N136S	probably damaging	Het
Abca13	A	T	11: 9,297,678	N2475I	probably damaging	Het
Acnat2	T	C	4: 49,380,631	K231R	probably damaging	Het
Ank1	C	T	8: 23,099,680	P599L	probably damaging	Het
Arhgef19	A	G	4: 141,250,810	E580G	probably damaging	Het
Atr	A	G	9: 95,865,702	K346E	probably damaging	Het
AU021092	T	C	16: 5,212,604	K309E	probably damaging	Het
Baz2b	T	C	2: 59,912,807	R1607G	probably benign	Het
Cct8	C	T	16: 87,487,538	V254M	probably damaging	Het
Csmd3	A	T	15: 47,659,192	C2694S	probably damaging	Het
Dmkn	A	G	7: 30,764,236	I105V	probably benign	Het
Dock1	A	G	7: 135,152,246	D1584G	probably benign	Het
Epg5	G	A	18: 78,028,948	V2392I	probably benign	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Gsap	G	A	5: 21,242,826	S294N	possibly damaging	Het
Hectd2	A	G	19: 36,599,604	N142D	probably damaging	Het
Hmcn1	A	G	1: 150,588,257	C5091R	probably damaging	Het
Ifitm5	G	A	7: 140,950,104	R36*	probably null	Het
Ints2	G	A	11: 86,256,200	P40L	probably damaging	Het
Irs1	A	T	1: 82,286,967	L1176*	probably null	Het
Klhl29	C	T	12: 5,091,334	R550Q	probably benign	Het
Kyat1	A	G	2: 30,188,090	M134T	probably damaging	Het
Lrrk2	A	T	15: 91,700,619	N384Y	possibly damaging	Het
Magel2	T	C	7: 62,380,104	S919P	unknown	Het
Mettl16	A	T	11: 74,802,999	I279F	probably benign	Het
Mrgpra1	A	T	7: 47,335,237	Y231*	probably null	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Mut	T	C	17: 40,938,827	F231S	possibly damaging	Het
Mvp	A	C	7: 126,993,616	Y374*	probably null	Het
Nabp2	G	A	10: 128,409,628		probably benign	Het
Nos1	C	T	5: 117,879,313	P247L	probably benign	Het
Olfr1015	T	A	2: 85,785,718	L69*	probably null	Het
Olfr1115	C	A	2: 87,252,082	F48L	probably benign	Het
Pik3cb	C	T	9: 99,071,408	D441N	probably damaging	Het
Qrich1	C	T	9: 108,541,736	P464S	possibly damaging	Het
Rab17	A	T	1: 90,960,138		probably null	Het
Rspo3	A	T	10: 29,506,447	L77H	probably damaging	Het
Spn	G	T	7: 127,137,230	T35K	probably benign	Het
Sult1d1	T	A	5: 87,559,844	Y139F	possibly damaging	Het
Tbc1d32	C	A	10: 56,123,531	Q848H	probably damaging	Het
Tcaf3	A	G	6: 42,596,933	V115A	probably benign	Het
Tram1l1	T	A	3: 124,321,644	L151*	probably null	Het
Trappc12	T	A	12: 28,692,513	I682L	possibly damaging	Het
Trav6d-4	A	C	14: 52,753,599	T31P	probably damaging	Het
Trpm8	A	G	1: 88,348,188	T503A	probably benign	Het
Virma	T	A	4: 11,542,116	Y1567*	probably null	Het
Vmn1r228	T	A	17: 20,776,681	K192*	probably null	Het
Zfp521	T	A	18: 13,844,273	T1028S	possibly damaging	Het
Zfp583	T	A	7: 6,317,398	Q205L	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
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
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'- AGCAAGTTACCTGCAGTCCC -3'
(R):5'- GTTCTTAGTTCTCTGTGACAAGTGC -3'

Sequencing Primer
(F):5'- CTGCCAGACAGGGAAAGTAGTCC -3'
(R):5'- TCTGTGACAAGTGCAGACTC -3'

Posted On

2016-06-06