Mutagenetix > Incidental Mutation

Incidental Mutation 'R0445:Cdkn3'

39335

Institutional Source

Beutler Lab

Gene Symbol

Cdkn3

Ensembl Gene

ENSMUSG00000037628

Gene Name

cyclin dependent kinase inhibitor 3

Synonyms

2410006H10Rik, KAP

MMRRC Submission

038646-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0445 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

46997912-47008987 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 47004857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000070575 (fasta)

Gene Model

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

AlphaFold

Q810P3

Predicted Effect

probably null
Transcript: ENSMUST00000067426

SMART Domains

Protein: ENSMUSP00000070575
Gene: ENSMUSG00000037628

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226621

Predicted Effect

probably benign
Transcript: ENSMUST00000227149
AA Change: Y140H

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000228106
AA Change: Y140H

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.9499

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

100% (77/77)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	C	17: 48,400,542 (GRCm39)		probably null	Het
A2m	C	T	6: 121,634,914 (GRCm39)	T687I	probably damaging	Het
Acsbg1	A	G	9: 54,523,179 (GRCm39)	S483P	probably damaging	Het
Adam22	T	A	5: 8,230,591 (GRCm39)		probably benign	Het
Aggf1	A	G	13: 95,490,509 (GRCm39)	V595A	possibly damaging	Het
Aplf	A	T	6: 87,640,734 (GRCm39)	L71I	probably damaging	Het
Arid3c	G	T	4: 41,725,172 (GRCm39)	P292T	probably benign	Het
Bltp1	T	C	3: 37,054,214 (GRCm39)	V3111A	probably damaging	Het
Brms1l	T	A	12: 55,908,191 (GRCm39)	Y213*	probably null	Het
C87436	T	A	6: 86,426,832 (GRCm39)	S332T	possibly damaging	Het
Cad	G	A	5: 31,230,053 (GRCm39)	A1454T	probably benign	Het
Cnot1	A	G	8: 96,486,836 (GRCm39)	C624R	probably damaging	Het
Cntnap5c	A	T	17: 58,411,738 (GRCm39)	I541F	probably benign	Het
Dennd1b	A	G	1: 139,095,503 (GRCm39)		probably benign	Het
Dscam	A	T	16: 96,573,703 (GRCm39)	I753N	probably damaging	Het
Eef2	C	CN	10: 81,014,604 (GRCm39)		probably null	Het
Epg5	T	A	18: 78,057,399 (GRCm39)	V1826D	possibly damaging	Het
Epha8	T	C	4: 136,659,711 (GRCm39)	Y755C	probably damaging	Het
Esco1	A	T	18: 10,574,989 (GRCm39)	N694K	probably damaging	Het
Fermt3	T	C	19: 6,980,667 (GRCm39)	H300R	probably benign	Het
Galnt5	C	A	2: 57,888,962 (GRCm39)	F187L	probably benign	Het
Gm17067	A	G	7: 42,358,046 (GRCm39)	I152T	probably benign	Het
Gnb3	T	C	6: 124,814,218 (GRCm39)	D154G	possibly damaging	Het
Gpr155	G	A	2: 73,200,488 (GRCm39)		probably benign	Het
Hdac3	A	G	18: 38,076,777 (GRCm39)	I240T	probably damaging	Het
Ifitm1	A	T	7: 140,548,354 (GRCm39)		probably null	Het
Kif1b	A	T	4: 149,272,466 (GRCm39)	L1455Q	probably benign	Het
Krt1	A	C	15: 101,756,056 (GRCm39)	L388R	probably damaging	Het
Lrp1	T	A	10: 127,426,505 (GRCm39)	K635*	probably null	Het
Map3k2	A	G	18: 32,350,263 (GRCm39)	Y371C	probably damaging	Het
Mcu	T	C	10: 59,292,467 (GRCm39)		probably benign	Het
Mkrn1	C	T	6: 39,381,788 (GRCm39)	V167I	probably benign	Het
Mrpl9	T	A	3: 94,352,198 (GRCm39)		probably benign	Het
Naip2	T	C	13: 100,298,395 (GRCm39)	Y547C	possibly damaging	Het
Nup88	G	A	11: 70,838,555 (GRCm39)	T487I	probably benign	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Obscn	C	T	11: 58,890,161 (GRCm39)	R7457H	unknown	Het
Or13c25	G	A	4: 52,910,849 (GRCm39)	T315M	probably benign	Het
Or2y13	T	A	11: 49,414,784 (GRCm39)	V78E	probably damaging	Het
Paf1	T	C	7: 28,095,113 (GRCm39)	S118P	probably damaging	Het
Parp4	T	A	14: 56,840,205 (GRCm39)		probably null	Het
Pcdh15	A	T	10: 74,178,381 (GRCm39)	Y157F	probably damaging	Het
Pex10	G	A	4: 155,153,531 (GRCm39)		probably null	Het
Phrf1	C	T	7: 140,827,244 (GRCm39)		probably benign	Het
Polr3a	G	T	14: 24,504,989 (GRCm39)	D1090E	probably benign	Het
Ppfia4	A	C	1: 134,255,027 (GRCm39)	L276R	probably benign	Het
Rdh16f1	T	C	10: 127,626,736 (GRCm39)	L263S	probably benign	Het
Ryr3	T	C	2: 112,696,399 (GRCm39)	D967G	probably benign	Het
Shc1	G	T	3: 89,333,844 (GRCm39)	A226S	probably damaging	Het
Slc4a1	A	G	11: 102,245,192 (GRCm39)	V585A	probably benign	Het
Stk38l	T	A	6: 146,677,184 (GRCm39)	S461T	probably benign	Het
Tbkbp1	A	T	11: 97,040,295 (GRCm39)	S40T	probably damaging	Het
Tet1	A	G	10: 62,715,720 (GRCm39)	M25T	probably benign	Het
Themis	A	G	10: 28,658,007 (GRCm39)	R192G	probably damaging	Het
Tmem144	T	C	3: 79,732,661 (GRCm39)	T206A	probably benign	Het
Tmem74b	G	A	2: 151,548,879 (GRCm39)	R202H	probably damaging	Het
Trpm1	T	C	7: 63,894,590 (GRCm39)		probably benign	Het
Vars1	A	G	17: 35,230,785 (GRCm39)	H557R	probably benign	Het
Zbtb12	C	A	17: 35,115,277 (GRCm39)	A354E	possibly damaging	Het
Zfp143	A	T	7: 109,660,324 (GRCm39)		probably benign	Het
Zftraf1	T	C	15: 76,532,457 (GRCm39)	H217R	probably 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
R1912:Cdkn3	UTSW	14	47,007,291 (GRCm39)	critical splice acceptor site	probably null
R3176:Cdkn3	UTSW	14	47,008,934 (GRCm39)	unclassified	probably benign
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

PCR Primer
(F):5'- AGTCCCAAACCTTCTGGACCTCTAC -3'
(R):5'- TTCCTTGCTACTGAAAAGGCTGAGATG -3'

Sequencing Primer
(F):5'- TTCTGGACCTCTACCAACAATATGG -3'
(R):5'- GGAGAAATGTCTCTACTCTAAACAC -3'

Posted On

2013-05-23