Mutagenetix > Incidental Mutation

Incidental Mutation 'R8948:Cdkn3'

681477

Institutional Source

Beutler Lab

Gene Symbol

Cdkn3

Ensembl Gene

ENSMUSG00000037628

Gene Name

cyclin dependent kinase inhibitor 3

Synonyms

2410006H10Rik, KAP

MMRRC Submission

068786-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8948 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46997912-47008987 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 47004780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 114 (P114L)

Ref Sequence

ENSEMBL: ENSMUSP00000154120 (fasta)

Gene Model

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

AlphaFold

Q810P3

Predicted Effect

probably damaging
Transcript: ENSMUST00000067426
AA Change: P114L

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

SMART Domains

Protein: ENSMUSP00000070575
Gene: ENSMUSG00000037628
AA Change: P114L

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 damaging
Transcript: ENSMUST00000227149
AA Change: P114L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228106
AA Change: P114L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	C	16: 8,418,805 (GRCm39)	I102T	possibly damaging	Het
Abca9	T	C	11: 110,054,206 (GRCm39)		probably null	Het
Ago3	T	C	4: 126,244,115 (GRCm39)		probably null	Het
Akap1	G	T	11: 88,735,099 (GRCm39)	A75E	probably damaging	Het
Atad2b	C	A	12: 5,041,012 (GRCm39)	A227E	possibly damaging	Het
Bmpr1a	G	T	14: 34,163,148 (GRCm39)	H81N	possibly damaging	Het
Camkv	C	T	9: 107,824,296 (GRCm39)	T236I	probably damaging	Het
Ccdc30	T	C	4: 119,181,358 (GRCm39)	E601G	probably benign	Het
Ccin	G	A	4: 43,984,064 (GRCm39)	R157H	probably damaging	Het
Col6a2	C	T	10: 76,446,527 (GRCm39)	G352D	probably damaging	Het
Csf2rb	A	T	15: 78,232,520 (GRCm39)	D609V	probably benign	Het
Ctc1	T	G	11: 68,917,175 (GRCm39)	Y110*	probably null	Het
D630023F18Rik	T	A	1: 65,147,899 (GRCm39)	N218I	probably damaging	Het
Dchs1	A	T	7: 105,408,212 (GRCm39)	H1873Q	probably benign	Het
Dnah1	T	C	14: 31,012,396 (GRCm39)	D1901G	probably damaging	Het
Eddm3b	T	A	14: 51,354,110 (GRCm39)	S33T	probably damaging	Het
Efcc1	A	G	6: 87,728,768 (GRCm39)	T408A	probably benign	Het
Epas1	A	G	17: 87,134,920 (GRCm39)	T518A	probably benign	Het
Ergic2	A	T	6: 148,104,005 (GRCm39)	M84K	probably damaging	Het
Ergic3	T	C	2: 155,853,160 (GRCm39)	V201A	probably benign	Het
Espn	C	A	4: 152,223,278 (GRCm39)	W258L	probably damaging	Het
Gm45337	A	G	7: 141,697,817 (GRCm39)	S156P	unknown	Het
Hmcn2	T	C	2: 31,244,741 (GRCm39)	Y733H	probably damaging	Het
Itga2	C	T	13: 115,009,866 (GRCm39)	G363D	probably damaging	Het
Kcnk5	T	C	14: 20,192,046 (GRCm39)	R372G	probably benign	Het
Khdc4	G	T	3: 88,617,219 (GRCm39)	S506I	probably damaging	Het
Kif11	T	A	19: 37,386,602 (GRCm39)	D387E	probably damaging	Het
Lrrn2	A	C	1: 132,866,104 (GRCm39)	I390L	probably benign	Het
Map2	G	T	1: 66,419,684 (GRCm39)	R5L	probably damaging	Het
Muc16	C	T	9: 18,558,529 (GRCm39)	R2588K	unknown	Het
Or3a10	A	G	11: 73,935,782 (GRCm39)	F106S	possibly damaging	Het
Or5b99	A	T	19: 12,976,445 (GRCm39)	I32F	probably damaging	Het
Or7g29	A	G	9: 19,286,262 (GRCm39)	I305T	probably benign	Het
Osbpl8	T	C	10: 111,103,530 (GRCm39)	I178T	probably damaging	Het
Pak2	A	T	16: 31,852,729 (GRCm39)		probably benign	Het
Perp	A	T	10: 18,729,326 (GRCm39)	I86F	possibly damaging	Het
Plpp1	A	T	13: 112,993,511 (GRCm39)	I149F	probably damaging	Het
Polr1f	T	A	12: 33,483,526 (GRCm39)	Y93N	probably damaging	Het
Preb	A	G	5: 31,115,671 (GRCm39)	S220P	probably damaging	Het
Prrt4	T	C	6: 29,177,665 (GRCm39)	T35A	probably damaging	Het
Ror2	T	A	13: 53,286,032 (GRCm39)	I73F	possibly damaging	Het
Rpl36-ps4	A	G	17: 88,228,574 (GRCm39)	T40A	probably damaging	Het
Rsbn1	A	T	3: 103,868,830 (GRCm39)	H623L	possibly damaging	Het
Sap30	C	A	8: 57,940,456 (GRCm39)	A49S	possibly damaging	Het
Sf3b3	T	C	8: 111,550,075 (GRCm39)	T648A	probably benign	Het
Sh3pxd2a	T	C	19: 47,361,882 (GRCm39)	R83G	probably damaging	Het
Slc35e1	A	T	8: 73,246,042 (GRCm39)	I130N	probably damaging	Het
Smchd1	C	T	17: 71,743,767 (GRCm39)	R466Q	probably damaging	Het
Smgc	C	T	15: 91,722,565 (GRCm39)		probably benign	Het
Stk32b	A	T	5: 37,612,341 (GRCm39)	N348K	possibly damaging	Het
Sult2a1	A	G	7: 13,530,342 (GRCm39)	F266L	probably damaging	Het
Sult2a2	A	T	7: 13,467,484 (GRCm39)	M1L	probably damaging	Het
Telo2	A	G	17: 25,332,085 (GRCm39)	V161A	probably benign	Het
Tmed11	C	T	5: 108,925,293 (GRCm39)	R173H	probably damaging	Het
Trappc6a	G	A	7: 19,249,923 (GRCm39)		probably benign	Het
Vmn2r5	A	T	3: 64,398,522 (GRCm39)	V819D	probably damaging	Het
Vmn2r74	A	G	7: 85,606,569 (GRCm39)	I259T	probably damaging	Het
Vps13a	A	G	19: 16,723,340 (GRCm39)	I286T	probably damaging	Het
Vsig10l	A	T	7: 43,117,623 (GRCm39)	I739F	possibly damaging	Het
Zfyve1	A	C	12: 83,594,802 (GRCm39)	V730G	probably benign	Het
Zfyve9	A	T	4: 108,499,288 (GRCm39)	D1284E	possibly damaging	Het
Zmym4	C	T	4: 126,758,060 (GRCm39)	R1498H	probably damaging	Het
Znhit2	A	T	19: 6,111,803 (GRCm39)	R183*	probably null	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
R8314:Cdkn3	UTSW	14	47,007,330 (GRCm39)	synonymous	silent

Predicted Primers

PCR Primer
(F):5'- CTGTTTTATGCACGCGTCTG -3'
(R):5'- CCTTGAAGTGTGGAAGCAGG -3'

Sequencing Primer
(F):5'- ACGCGTCTGTGTGTGTC -3'
(R):5'- CAGGAAGTTCATGAGTGCTTCC -3'

Posted On

2021-08-31