Mutagenetix > Incidental Mutation

Incidental Mutation 'R3176:Cdkn3'

476019

Institutional Source

Beutler Lab

Gene Symbol

Cdkn3

Ensembl Gene

ENSMUSG00000037628

Gene Name

cyclin dependent kinase inhibitor 3

Synonyms

2410006H10Rik, KAP

MMRRC Submission

040614-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3176 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46997912-47008987 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 47008934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015903] [ENSMUST00000067426] [ENSMUST00000146629] [ENSMUST00000227149] [ENSMUST00000228106]

AlphaFold

Q810P3

Predicted Effect

probably benign
Transcript: ENSMUST00000015903

SMART Domains

Protein: ENSMUSP00000015903
Gene: ENSMUSG00000015759

Domain	Start	End	E-Value	Type
Pfam:Cornichon	1	136	3e-50	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000067426
AA Change: V209A

SMART Domains

Protein: ENSMUSP00000070575
Gene: ENSMUSG00000037628
AA Change: V209A

Domain	Start	End	E-Value	Type
PTPc_DSPc	7	197	2.8e-3	SMART
low complexity region	199	210	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146629

SMART Domains

Protein: ENSMUSP00000116885
Gene: ENSMUSG00000015759

Domain	Start	End	E-Value	Type
Pfam:Cornichon	1	60	7.7e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226621

Predicted Effect

probably benign
Transcript: ENSMUST00000227149

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227583

Predicted Effect

probably benign
Transcript: ENSMUST00000228106

Meta Mutation Damage Score

0.0700

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (28/28)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the dual specificity protein phosphatase family. It was identified as a cyclin-dependent kinase inhibitor, and has been shown to interact with, and dephosphorylate CDK2 kinase, thus prevent the activation of CDK2 kinase. This gene was reported to be deleted, mutated, or overexpressed in several kinds of cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 87,233,495 (GRCm39)	R1269H	probably damaging	Het
Ace	A	G	11: 105,867,528 (GRCm39)	E164G	probably null	Het
Als2	A	T	1: 59,209,167 (GRCm39)	V1464E	possibly damaging	Het
Atox1	A	G	11: 55,341,379 (GRCm39)	L52P	possibly damaging	Het
Btnl10	A	G	11: 58,813,216 (GRCm39)	K282E	probably benign	Het
Ces2a	A	G	8: 105,466,010 (GRCm39)		probably benign	Het
Col16a1	A	G	4: 129,951,792 (GRCm39)	K72E	probably damaging	Het
Col6a5	G	A	9: 105,788,306 (GRCm39)	R1565*	probably null	Het
Col6a6	T	C	9: 105,663,429 (GRCm39)	H36R	probably benign	Het
Cyp4b1	T	C	4: 115,483,047 (GRCm39)	N415D	possibly damaging	Het
Dcp1a	A	G	14: 30,227,499 (GRCm39)		probably benign	Het
Dennd4a	G	T	9: 64,796,275 (GRCm39)	R767L	probably damaging	Het
Dhcr24	T	C	4: 106,418,436 (GRCm39)	F25L	probably benign	Het
Dhrs3	A	G	4: 144,650,510 (GRCm39)	T219A	probably benign	Het
Dhx58	A	G	11: 100,587,805 (GRCm39)	F584S	probably damaging	Het
Dmbt1	A	G	7: 130,689,801 (GRCm39)	T715A	probably benign	Het
Dtx3l	A	G	16: 35,752,543 (GRCm39)	S688P	probably benign	Het
Eogt	T	A	6: 97,108,355 (GRCm39)	I229F	probably benign	Het
Ern2	T	C	7: 121,780,187 (GRCm39)	T164A	possibly damaging	Het
Fam133b	A	T	5: 3,608,522 (GRCm39)	N84I	probably damaging	Het
Fbxl21	T	A	13: 56,684,935 (GRCm39)	Y346*	probably null	Het
Fcgbp	C	A	7: 27,791,086 (GRCm39)	H782Q	probably damaging	Het
Gm5592	A	G	7: 40,937,804 (GRCm39)	E362G	probably benign	Het
Gpatch2l	A	G	12: 86,291,089 (GRCm39)	T91A	possibly damaging	Het
Hao2	T	C	3: 98,787,644 (GRCm39)		probably benign	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Itgad	C	A	7: 127,790,153 (GRCm39)	H651N	possibly damaging	Het
Itgav	A	G	2: 83,606,886 (GRCm39)	D409G	probably damaging	Het
Kcnt2	A	G	1: 140,537,377 (GRCm39)	N1119S	probably benign	Het
Kif15	T	C	9: 122,816,905 (GRCm39)		probably benign	Het
Klhl32	T	C	4: 24,682,063 (GRCm39)	I207V	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lhfpl5	T	C	17: 28,798,920 (GRCm39)	I143T	possibly damaging	Het
Lrrk1	T	C	7: 65,955,269 (GRCm39)	K431E	possibly damaging	Het
Mag	C	T	7: 30,601,073 (GRCm39)		probably null	Het
Maml3	A	T	3: 51,764,351 (GRCm39)	N204K	possibly damaging	Het
Mmut	A	G	17: 41,269,763 (GRCm39)		probably null	Het
Mrpl19	T	C	6: 81,941,047 (GRCm39)	S115G	probably damaging	Het
Mthfd1l	G	C	10: 4,098,025 (GRCm39)	G954A	probably damaging	Het
Myo19	A	G	11: 84,783,001 (GRCm39)	I172V	probably benign	Het
Naca	T	C	10: 127,876,530 (GRCm39)		probably benign	Het
Nbeal2	G	A	9: 110,465,955 (GRCm39)		probably benign	Het
Nfatc2	T	C	2: 168,348,914 (GRCm39)	N638D	possibly damaging	Het
Or52r1c	C	A	7: 102,734,957 (GRCm39)	D72E	probably damaging	Het
Or8b49	T	A	9: 38,505,939 (GRCm39)	C141S	probably damaging	Het
Or9s27	A	G	1: 92,516,535 (GRCm39)	N161S	probably benign	Het
Padi6	A	G	4: 140,462,700 (GRCm39)	L307P	probably damaging	Het
Pafah1b1	G	A	11: 74,581,058 (GRCm39)	S57F	probably damaging	Het
Prcd	A	G	11: 116,550,637 (GRCm39)	E103G	possibly damaging	Het
Prkx	A	T	X: 76,814,881 (GRCm39)	F260I	probably damaging	Het
Rad54l2	A	G	9: 106,631,142 (GRCm39)		probably null	Het
Rb1cc1	T	A	1: 6,319,590 (GRCm39)	M1003K	probably benign	Het
Scap	A	T	9: 110,203,093 (GRCm39)	M256L	probably benign	Het
Sema4c	C	T	1: 36,588,960 (GRCm39)	R722H	possibly damaging	Het
Septin4	T	C	11: 87,458,070 (GRCm39)	V148A	possibly damaging	Het
Sgk1	C	T	10: 21,872,500 (GRCm39)	R171W	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Spata7	A	G	12: 98,603,857 (GRCm39)	N75D	possibly damaging	Het
Tmem120b	T	A	5: 123,252,167 (GRCm39)	I146N	probably damaging	Het
Ttc23l	A	G	15: 10,547,318 (GRCm39)	F99L	possibly damaging	Het
Ube3a	T	A	7: 58,926,267 (GRCm39)	C348*	probably null	Het
Ubr4	T	A	4: 139,149,166 (GRCm39)	D1777E	probably benign	Het
Unc79	C	A	12: 103,079,476 (GRCm39)	D1880E	probably damaging	Het
Usp36	C	T	11: 118,167,585 (GRCm39)		probably null	Het
Zswim9	T	C	7: 13,011,196 (GRCm39)	T51A	possibly damaging	Het

Other mutations in Cdkn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
E0374:Cdkn3	UTSW	14	47,004,630 (GRCm39)	splice site	probably null
R0033:Cdkn3	UTSW	14	47,006,329 (GRCm39)	nonsense	probably null
R0033:Cdkn3	UTSW	14	47,006,329 (GRCm39)	nonsense	probably null
R0445:Cdkn3	UTSW	14	47,004,857 (GRCm39)	critical splice donor site	probably null
R1912:Cdkn3	UTSW	14	47,007,291 (GRCm39)	critical splice acceptor site	probably null
R3276:Cdkn3	UTSW	14	47,008,934 (GRCm39)	unclassified	probably benign
R4941:Cdkn3	UTSW	14	47,007,320 (GRCm39)	missense	possibly damaging	0.90
R5344:Cdkn3	UTSW	14	47,004,807 (GRCm39)	missense	possibly damaging	0.94
R5964:Cdkn3	UTSW	14	47,004,674 (GRCm39)	missense	probably null	1.00
R6039:Cdkn3	UTSW	14	47,007,373 (GRCm39)	missense	probably damaging	1.00
R6039:Cdkn3	UTSW	14	47,007,373 (GRCm39)	missense	probably damaging	1.00
R7073:Cdkn3	UTSW	14	47,004,647 (GRCm39)	missense	possibly damaging	0.79
R7234:Cdkn3	UTSW	14	47,008,918 (GRCm39)	missense	unknown
R8083:Cdkn3	UTSW	14	47,000,058 (GRCm39)	missense	probably benign	0.06
R8314:Cdkn3	UTSW	14	47,007,330 (GRCm39)	synonymous	silent
R8948:Cdkn3	UTSW	14	47,004,780 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-05-11