Mutagenetix > Incidental Mutation

Incidental Mutation 'R8314:Cdkn3'

656487

Institutional Source

Beutler Lab

Gene Symbol

Cdkn3

Ensembl Gene

ENSMUSG00000037628

Gene Name

cyclin dependent kinase inhibitor 3

Synonyms

2410006H10Rik, KAP

MMRRC Submission

067719-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8314 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46997912-47008987 bp(+) (GRCm39)

Type of Mutation

synonymous

DNA Base Change (assembly)

A to T at 47007330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000070575 (fasta)

Gene Model

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

AlphaFold

Q810P3

Predicted Effect

silent
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (67/67)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	A	9: 122,777,993 (GRCm39)	T84S	probably benign	Het
4930533K18Rik	A	G	10: 70,711,106 (GRCm39)	T76A	noncoding transcript	Het
Adgrl1	C	T	8: 84,665,018 (GRCm39)	T1235I	probably damaging	Het
Ak4	C	T	4: 101,320,782 (GRCm39)	T197M	possibly damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Alox12e	T	C	11: 70,206,998 (GRCm39)	M603V	possibly damaging	Het
Ap3d1	A	T	10: 80,559,373 (GRCm39)	I267N	possibly damaging	Het
Arhgef2	T	A	3: 88,528,600 (GRCm39)	I12N	probably benign	Het
Asnsd1	A	T	1: 53,385,814 (GRCm39)	M520K	probably damaging	Het
B3galt5	T	C	16: 96,116,649 (GRCm39)	L94P	probably damaging	Het
Birc2	T	C	9: 7,872,942 (GRCm39)		probably benign	Het
Cd177	T	C	7: 24,450,013 (GRCm39)	S541G	probably benign	Het
Cdh8	T	C	8: 99,898,011 (GRCm39)	D434G	probably damaging	Het
Ciita	A	T	16: 10,328,852 (GRCm39)	R379W	probably damaging	Het
Cntrl	T	A	2: 35,065,155 (GRCm39)	M2153K	probably benign	Het
Csmd1	A	T	8: 16,208,258 (GRCm39)	D1232E	probably benign	Het
Cyp4a30b	A	C	4: 115,315,535 (GRCm39)	H252P	probably benign	Het
Dad1	G	A	14: 54,491,269 (GRCm39)	R11W	probably damaging	Het
Ddit3	A	G	10: 127,131,590 (GRCm39)		probably null	Het
Dusp22	G	A	13: 30,892,914 (GRCm39)		probably benign	Het
Dzank1	A	G	2: 144,344,878 (GRCm39)	L293P	probably damaging	Het
Edf1	A	G	2: 25,447,977 (GRCm39)	D5G	probably damaging	Het
Entrep3	T	C	3: 89,095,453 (GRCm39)		probably null	Het
Ep400	T	A	5: 110,903,619 (GRCm39)	M327L	unknown	Het
Fam135a	A	T	1: 24,061,002 (GRCm39)	H1341Q	possibly damaging	Het
Fbxl3	C	T	14: 103,326,876 (GRCm39)	V169I	probably benign	Het
Gm4787	A	G	12: 81,425,909 (GRCm39)	L83P	probably damaging	Het
Habp4	A	G	13: 64,332,565 (GRCm39)	E392G	probably damaging	Het
Hspg2	C	A	4: 137,266,986 (GRCm39)	P1997Q	probably benign	Het
Ints9	T	C	14: 65,266,479 (GRCm39)	S444P	probably damaging	Het
Kif18b	G	A	11: 102,803,900 (GRCm39)	S420L	probably benign	Het
Klhl17	T	A	4: 156,318,470 (GRCm39)	M51L	probably benign	Het
Kmt2b	C	T	7: 30,278,347 (GRCm39)	E1555K	probably damaging	Het
Malrd1	T	A	2: 15,757,643 (GRCm39)	D972E	unknown	Het
Mapk8ip3	A	T	17: 25,120,748 (GRCm39)	S805R	probably benign	Het
Mmp13	G	A	9: 7,272,931 (GRCm39)	C97Y	probably damaging	Het
Moxd1	T	A	10: 24,128,438 (GRCm39)	N163K	possibly damaging	Het
Nbea	T	C	3: 55,916,672 (GRCm39)	I863V	probably damaging	Het
Nectin4	A	G	1: 171,212,295 (GRCm39)	T298A	probably benign	Het
Net1	T	C	13: 3,962,672 (GRCm39)		probably benign	Het
Ntn1	T	C	11: 68,276,450 (GRCm39)	D166G	probably damaging	Het
Opa3	C	A	7: 18,978,940 (GRCm39)	A135E	possibly damaging	Het
Or1e31	T	G	11: 73,690,568 (GRCm39)	N5T	noncoding transcript	Het
Or4c3d	T	C	2: 89,882,441 (GRCm39)	T76A	probably benign	Het
Or51v14	T	C	7: 103,261,254 (GRCm39)	Q102R	probably damaging	Het
Or5w14	A	G	2: 87,541,546 (GRCm39)	F235L	probably benign	Het
Or8g30	A	G	9: 39,230,601 (GRCm39)	F103S	probably damaging	Het
Osbpl5	T	C	7: 143,248,833 (GRCm39)	I608V	probably benign	Het
Phc1	A	C	6: 122,297,937 (GRCm39)	S782R	unknown	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pip5k1b	T	A	19: 24,332,563 (GRCm39)	T374S	probably benign	Het
Prkaa1	A	G	15: 5,208,354 (GRCm39)	S541G	probably damaging	Het
Ptpn20	A	G	14: 33,344,504 (GRCm39)	N143D	possibly damaging	Het
Rabep1	A	G	11: 70,784,486 (GRCm39)	D207G	possibly damaging	Het
Rbbp8	G	A	18: 11,853,682 (GRCm39)	M296I	probably benign	Het
Recql4	C	A	15: 76,594,380 (GRCm39)	R46L	probably damaging	Het
Scgb2b18	T	C	7: 32,872,582 (GRCm39)	I74M	probably benign	Het
Shc4	A	G	2: 125,497,536 (GRCm39)	I391T	possibly damaging	Het
Slc38a4	A	G	15: 96,908,190 (GRCm39)	F184L	probably benign	Het
Slc7a6	A	G	8: 106,895,590 (GRCm39)		probably benign	Het
Smim13	G	T	13: 41,426,110 (GRCm39)	G49*	probably null	Het
Tbc1d19	A	G	5: 54,054,389 (GRCm39)	D459G	probably damaging	Het
Tnpo1	T	C	13: 99,021,133 (GRCm39)	N82S	possibly damaging	Het
Tpp2	G	A	1: 43,973,387 (GRCm39)	V47I	probably benign	Het
Umodl1	G	T	17: 31,203,806 (GRCm39)	A540S	probably damaging	Het
Vmn2r83	G	A	10: 79,317,313 (GRCm39)	V519I	possibly damaging	Het
Zfp641	T	C	15: 98,188,464 (GRCm39)	I139V	probably damaging	Het
Zfyve21	A	T	12: 111,789,715 (GRCm39)	I60F	probably benign	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
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
R8948:Cdkn3	UTSW	14	47,004,780 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGCCTCAGTCTTTTATCTTTCAG -3'
(R):5'- GACAGAGGCTGAACAATCGC -3'

Sequencing Primer
(F):5'- TTCAGTCCGTGTGCTCAC -3'
(R):5'- CAGAGGCTGAACAATCGCAGATC -3'

Posted On

2020-12-01