Mutagenetix > Incidental Mutation

Incidental Mutation 'R4679:Cdca2'

349951

Institutional Source

Beutler Lab

Gene Symbol

Cdca2

Ensembl Gene

ENSMUSG00000048922

Gene Name

cell division cycle associated 2

Synonyms

2610311M19Rik

MMRRC Submission

041932-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R4679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67913780-67953290 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67952415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 14 (K14E)

Ref Sequence

ENSEMBL: ENSMUSP00000116384 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000124045
AA Change: K14E

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000125212

Predicted Effect

probably benign
Transcript: ENSMUST00000132705
AA Change: K14E

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115633
Gene: ENSMUSG00000048922
AA Change: K14E

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: K14E

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000117847
Gene: ENSMUSG00000048922
AA Change: K14E

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: ENSMUST00000163100
AA Change: K14E

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000127571
Gene: ENSMUSG00000048922
AA Change: K14E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155312

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

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

Meta Mutation Damage Score

0.0691

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

98% (112/114)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	T	A	1: 130,670,140 (GRCm39)	S121T	possibly damaging	Het
Abcb9	A	G	5: 124,216,867 (GRCm39)	V450A	probably benign	Het
Abcg1	A	T	17: 31,333,235 (GRCm39)	R659S	probably benign	Het
Acad9	A	T	3: 36,142,989 (GRCm39)	N508I	possibly damaging	Het
Acrbp	T	A	6: 125,037,881 (GRCm39)	C393S	probably damaging	Het
Adcy7	T	C	8: 89,044,565 (GRCm39)	V486A	probably benign	Het
Adgrf1	G	T	17: 43,621,384 (GRCm39)	L540F	probably damaging	Het
Ap5m1	T	C	14: 49,316,285 (GRCm39)	I285T	probably benign	Het
Arhgap27	G	T	11: 103,251,775 (GRCm39)		probably benign	Het
Armc5	A	T	7: 127,839,276 (GRCm39)	E198V	possibly damaging	Het
Atp8b5	A	T	4: 43,365,955 (GRCm39)	K742M	probably benign	Het
Atp9a	T	G	2: 168,503,884 (GRCm39)	T603P	possibly damaging	Het
Bsn	A	G	9: 107,987,329 (GRCm39)	S2808P	unknown	Het
C9orf72	C	T	4: 35,226,033 (GRCm39)		probably benign	Het
Catsper4	T	C	4: 133,953,916 (GRCm39)	N81S	probably damaging	Het
Ccl17	C	G	8: 95,537,128 (GRCm39)	T10S	probably benign	Het
Cdc123	A	T	2: 5,849,703 (GRCm39)	V6D	probably damaging	Het
Cdh3	C	A	8: 107,266,488 (GRCm39)	T302K	probably damaging	Het
Cdh9	A	G	15: 16,851,045 (GRCm39)	M605V	probably benign	Het
Cdk4	A	G	10: 126,900,780 (GRCm39)	E144G	possibly damaging	Het
Clasp1	C	T	1: 118,471,001 (GRCm39)	A879V	probably damaging	Het
Cldn8	G	A	16: 88,359,296 (GRCm39)	H210Y	probably benign	Het
Cntn5	T	C	9: 9,970,536 (GRCm39)	D518G	probably benign	Het
Cog1	C	T	11: 113,543,116 (GRCm39)	A208V	probably damaging	Het
Col4a2	T	A	8: 11,481,337 (GRCm39)	H836Q	possibly damaging	Het
Copb1	T	C	7: 113,848,211 (GRCm39)	D108G	probably damaging	Het
Csmd3	A	T	15: 48,024,479 (GRCm39)	Y600*	probably null	Het
Cyb5r1	T	A	1: 134,335,571 (GRCm39)	H164Q	probably benign	Het
Dkc1	A	G	X: 74,144,598 (GRCm39)	I215V	probably benign	Het
Enpep	A	G	3: 129,097,362 (GRCm39)		probably null	Het
Fam110d	A	G	4: 133,978,747 (GRCm39)	S244P	probably damaging	Het
Fbln7	A	G	2: 128,736,806 (GRCm39)	Y311C	probably damaging	Het
Fign	A	C	2: 63,809,605 (GRCm39)	L555R	probably damaging	Het
Fkbp7	A	T	2: 76,502,032 (GRCm39)		probably benign	Het
Fmn2	T	C	1: 174,330,728 (GRCm39)	S373P	unknown	Het
Frmd4b	C	T	6: 97,272,627 (GRCm39)	D868N	possibly damaging	Het
Garin3	T	A	11: 46,295,640 (GRCm39)	M4K	possibly damaging	Het
Gfpt2	A	G	11: 49,714,564 (GRCm39)	N321S	probably benign	Het
Glmn	G	T	5: 107,708,941 (GRCm39)	T372K	probably damaging	Het
Gm26602	C	T	10: 79,746,808 (GRCm39)		probably benign	Het
Gm6797	A	G	X: 8,505,933 (GRCm39)		noncoding transcript	Het
Gpat3	T	A	5: 101,041,322 (GRCm39)	F383L	probably damaging	Het
H2-M11	C	T	17: 36,859,042 (GRCm39)	T194I	possibly damaging	Het
Hcn1	C	T	13: 117,793,551 (GRCm39)	H268Y	probably benign	Het
Hectd4	G	T	5: 121,463,314 (GRCm39)	C2345F	possibly damaging	Het
Htt	A	G	5: 34,977,424 (GRCm39)	D770G	probably benign	Het
Ints3	T	C	3: 90,315,817 (GRCm39)	T316A	possibly damaging	Het
Ipo9	A	G	1: 135,321,907 (GRCm39)	F608L	probably benign	Het
Irak1	A	C	X: 73,065,995 (GRCm39)		probably benign	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Lag3	T	A	6: 124,881,508 (GRCm39)	Q488L	possibly damaging	Het
Large2	A	T	2: 92,197,903 (GRCm39)	L266Q	probably benign	Het
Lrp3	T	G	7: 34,903,365 (GRCm39)	D327A	probably damaging	Het
Mamstr	C	A	7: 45,294,116 (GRCm39)		probably benign	Het
Mettl14	G	A	3: 123,163,063 (GRCm39)		probably benign	Het
Miga1	A	G	3: 152,028,112 (GRCm39)	V139A	probably damaging	Het
Mthfd2l	A	C	5: 91,096,770 (GRCm39)	R130S	probably benign	Het
Myo1b	A	G	1: 51,797,132 (GRCm39)	I970T	possibly damaging	Het
Nat10	C	A	2: 103,562,515 (GRCm39)	W607L	probably damaging	Het
Nop56	A	G	2: 130,120,193 (GRCm39)	T183A	probably benign	Het
Or10h1	A	G	17: 33,418,367 (GRCm39)	H115R	probably benign	Het
Or2d4	A	T	7: 106,544,152 (GRCm39)	S19T	probably benign	Het
Or4c10	A	G	2: 89,761,008 (GRCm39)	Y285C	possibly damaging	Het
Or4d1	T	A	11: 87,805,136 (GRCm39)	M199L	probably benign	Het
Or52j3	A	G	7: 102,836,309 (GRCm39)	Y167C	probably benign	Het
Or5ae2	T	A	7: 84,506,112 (GRCm39)	Y178*	probably null	Het
Pcdhb12	T	C	18: 37,570,002 (GRCm39)	F383L	probably damaging	Het
Pde4dip	C	A	3: 97,602,321 (GRCm39)	D2252Y	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Plscr2	T	G	9: 92,169,823 (GRCm39)	L91R	probably benign	Het
Plxnc1	T	A	10: 94,630,306 (GRCm39)	Y1531F	probably damaging	Het
Ptprq	A	T	10: 107,521,043 (GRCm39)	F710I	probably benign	Het
Rad51ap2	A	G	12: 11,506,552 (GRCm39)	E158G	probably damaging	Het
Rasip1	T	A	7: 45,277,247 (GRCm39)	H18Q	possibly damaging	Het
Rcsd1	T	A	1: 165,483,493 (GRCm39)	N166I	probably damaging	Het
Ripor1	T	A	8: 106,344,417 (GRCm39)	I517K	possibly damaging	Het
Ryr2	T	A	13: 11,839,255 (GRCm39)	H506L	probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Septin14	T	C	5: 129,770,090 (GRCm39)	D202G	possibly damaging	Het
Siglec1	A	T	2: 130,915,331 (GRCm39)	L1420Q	possibly damaging	Het
Slc22a29	T	A	19: 8,138,948 (GRCm39)	I505F	possibly damaging	Het
Sorcs1	T	A	19: 50,171,107 (GRCm39)	Y927F	probably benign	Het
Spats2	T	G	15: 99,078,603 (GRCm39)	M191R	possibly damaging	Het
Sycp1	C	T	3: 102,829,778 (GRCm39)		probably null	Het
T2	A	G	17: 8,609,848 (GRCm39)	E99G	possibly damaging	Het
Taf3	G	A	2: 10,053,375 (GRCm39)		probably benign	Het
Tnfsf10	A	T	3: 27,389,728 (GRCm39)	N263I	probably damaging	Het
Treml2	A	T	17: 48,615,203 (GRCm39)	R229S	probably benign	Het
Trmt13	T	C	3: 116,383,404 (GRCm39)	K125E	probably damaging	Het
Ttc9	G	T	12: 81,678,375 (GRCm39)	C66F	probably damaging	Het
Vmn2r63	C	T	7: 42,577,544 (GRCm39)	M331I	probably benign	Het
Zfp353-ps	T	C	8: 42,535,251 (GRCm39)		noncoding transcript	Het
Zfp932	A	T	5: 110,157,760 (GRCm39)	H486L	probably damaging	Het

Other mutations in Cdca2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01115:Cdca2	APN	14	67,952,146 (GRCm39)	missense	probably damaging	0.99
IGL01413:Cdca2	APN	14	67,915,343 (GRCm39)	missense	probably damaging	0.98
IGL01962:Cdca2	APN	14	67,943,172 (GRCm39)	missense	probably damaging	0.99
IGL01982:Cdca2	APN	14	67,915,168 (GRCm39)	missense	probably damaging	0.98
IGL02198:Cdca2	APN	14	67,932,445 (GRCm39)	missense	probably benign	0.00
IGL02208:Cdca2	APN	14	67,950,589 (GRCm39)	missense	probably damaging	0.99
IGL02883:Cdca2	APN	14	67,944,946 (GRCm39)	missense	probably damaging	1.00
IGL03069:Cdca2	APN	14	67,952,385 (GRCm39)	splice site	probably benign
F5493:Cdca2	UTSW	14	67,915,141 (GRCm39)	missense	probably damaging	0.99
IGL03046:Cdca2	UTSW	14	67,937,471 (GRCm39)	intron	probably benign
R0254:Cdca2	UTSW	14	67,914,627 (GRCm39)	missense	probably damaging	0.99
R0350:Cdca2	UTSW	14	67,950,568 (GRCm39)	missense	probably benign	0.02
R0368:Cdca2	UTSW	14	67,937,796 (GRCm39)	missense	possibly damaging	0.89
R0398:Cdca2	UTSW	14	67,935,411 (GRCm39)	missense	probably damaging	0.98
R0790:Cdca2	UTSW	14	67,917,740 (GRCm39)	missense	probably benign
R1104:Cdca2	UTSW	14	67,931,131 (GRCm39)	missense	probably damaging	0.99
R1474:Cdca2	UTSW	14	67,952,355 (GRCm39)	intron	probably benign
R1658:Cdca2	UTSW	14	67,915,148 (GRCm39)	missense	possibly damaging	0.93
R1782:Cdca2	UTSW	14	67,915,260 (GRCm39)	missense	probably benign	0.22
R2150:Cdca2	UTSW	14	67,952,258 (GRCm39)	missense	probably damaging	1.00
R2154:Cdca2	UTSW	14	67,914,425 (GRCm39)	missense	probably damaging	0.99
R2155:Cdca2	UTSW	14	67,952,287 (GRCm39)	missense	probably damaging	1.00
R2862:Cdca2	UTSW	14	67,935,539 (GRCm39)	missense	probably damaging	1.00
R3156:Cdca2	UTSW	14	67,935,612 (GRCm39)	missense	possibly damaging	0.91
R3840:Cdca2	UTSW	14	67,917,720 (GRCm39)	nonsense	probably null
R4043:Cdca2	UTSW	14	67,941,455 (GRCm39)	missense	probably benign	0.11
R4293:Cdca2	UTSW	14	67,952,299 (GRCm39)	missense	probably benign	0.06
R4777:Cdca2	UTSW	14	67,950,589 (GRCm39)	missense	probably damaging	0.99
R4829:Cdca2	UTSW	14	67,931,202 (GRCm39)	critical splice acceptor site	probably null
R4843:Cdca2	UTSW	14	67,914,425 (GRCm39)	missense	probably damaging	1.00
R5031:Cdca2	UTSW	14	67,950,602 (GRCm39)	missense	probably damaging	1.00
R5181:Cdca2	UTSW	14	67,917,614 (GRCm39)	missense	probably damaging	0.98
R5331:Cdca2	UTSW	14	67,914,920 (GRCm39)	missense	possibly damaging	0.91
R5490:Cdca2	UTSW	14	67,917,733 (GRCm39)	missense	possibly damaging	0.91
R5695:Cdca2	UTSW	14	67,943,078 (GRCm39)	critical splice donor site	probably null
R6246:Cdca2	UTSW	14	67,915,277 (GRCm39)	nonsense	probably null
R6866:Cdca2	UTSW	14	67,931,115 (GRCm39)	missense	possibly damaging	0.92
R6928:Cdca2	UTSW	14	67,943,193 (GRCm39)	missense	probably damaging	0.98
R6955:Cdca2	UTSW	14	67,952,453 (GRCm39)	start codon destroyed	probably null	0.53
R6986:Cdca2	UTSW	14	67,932,446 (GRCm39)	missense	probably benign	0.27
R7080:Cdca2	UTSW	14	67,935,551 (GRCm39)	missense	probably damaging	0.99
R7092:Cdca2	UTSW	14	67,944,800 (GRCm39)	critical splice donor site	probably null
R7292:Cdca2	UTSW	14	67,915,326 (GRCm39)	nonsense	probably null
R7308:Cdca2	UTSW	14	67,932,440 (GRCm39)	missense	probably benign
R7310:Cdca2	UTSW	14	67,950,673 (GRCm39)	missense	probably damaging	1.00
R7877:Cdca2	UTSW	14	67,914,665 (GRCm39)	missense	probably benign
R8012:Cdca2	UTSW	14	67,914,821 (GRCm39)	missense	probably benign	0.23
R8080:Cdca2	UTSW	14	67,915,004 (GRCm39)	nonsense	probably null
R8772:Cdca2	UTSW	14	67,935,529 (GRCm39)	missense	probably damaging	0.98
R9123:Cdca2	UTSW	14	67,917,762 (GRCm39)	missense	probably benign	0.03
R9125:Cdca2	UTSW	14	67,917,762 (GRCm39)	missense	probably benign	0.03
R9252:Cdca2	UTSW	14	67,914,831 (GRCm39)	missense	possibly damaging	0.93
R9328:Cdca2	UTSW	14	67,931,131 (GRCm39)	missense	probably damaging	0.99
R9406:Cdca2	UTSW	14	67,937,772 (GRCm39)	missense	unknown
R9667:Cdca2	UTSW	14	67,915,003 (GRCm39)	missense	probably benign	0.01
R9678:Cdca2	UTSW	14	67,937,778 (GRCm39)	missense	unknown
Z1088:Cdca2	UTSW	14	67,937,747 (GRCm39)	missense	probably benign	0.12
Z1177:Cdca2	UTSW	14	67,917,693 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGGTGAAGTCCAAAGGTG -3'
(R):5'- GCCGTTTCTTTAATCAGAACGCC -3'

Sequencing Primer
(F):5'- AGATTAGGAGTCGCATCTGCTAC -3'
(R):5'- GTTTCTTTAATCAGAACGCCCCAGC -3'

Posted On

2015-10-08