Mutagenetix > Incidental Mutation

Incidental Mutation 'R7512:Ccnt2'

582127

Institutional Source

Beutler Lab

Gene Symbol

Ccnt2

Ensembl Gene

ENSMUSG00000026349

Gene Name

cyclin T2

Synonyms

2900041I18Rik, CycT2

MMRRC Submission

045585-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7512 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127701901-127732574 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127730031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 303 (S303T)

Ref Sequence

ENSEMBL: ENSMUSP00000027587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027587] [ENSMUST00000112570]

AlphaFold

Q7TQK0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027587
AA Change: S303T

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027587
Gene: ENSMUSG00000026349
AA Change: S303T

Domain	Start	End	E-Value	Type
CYCLIN	42	141	4.27e-14	SMART
CYCLIN	154	242	4.51e0	SMART
low complexity region	531	543	N/A	INTRINSIC
low complexity region	621	653	N/A	INTRINSIC
low complexity region	658	664	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112570
AA Change: S303T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108189
Gene: ENSMUSG00000026349
AA Change: S303T

Domain	Start	End	E-Value	Type
CYCLIN	42	141	4.27e-14	SMART
CYCLIN	154	242	4.51e0	SMART
low complexity region	531	543	N/A	INTRINSIC
low complexity region	621	634	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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 highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin and its kinase partner CDK9 were found to be subunits of the transcription elongation factor p-TEFb. The p-TEFb complex containing this cyclin was reported to interact with, and act as a negative regulator of human immunodeficiency virus type 1 (HIV-1) Tat protein. A pseudogene of this gene is found on chromosome 1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to the 4-cell stage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	T	11: 109,829,275 (GRCm39)	A1395T	probably benign	Het
Ank3	A	G	10: 69,826,691 (GRCm39)	K1787E		Het
Atg2a	C	T	19: 6,310,106 (GRCm39)	A1763V	probably damaging	Het
Bdp1	T	C	13: 100,187,457 (GRCm39)	I1637V	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Camsap3	A	G	8: 3,648,740 (GRCm39)	T20A	probably benign	Het
Cdh3	C	T	8: 107,265,640 (GRCm39)	Q228*	probably null	Het
Col19a1	C	T	1: 24,356,788 (GRCm39)	G632R	probably damaging	Het
Dock2	A	C	11: 34,262,542 (GRCm39)	C938G	possibly damaging	Het
Dync1i1	G	T	6: 5,969,410 (GRCm39)	V412L	possibly damaging	Het
Eif1ad6	G	T	12: 87,668,751 (GRCm39)	E128*	probably null	Het
Entrep2	C	T	7: 64,805,918 (GRCm39)	A52T	probably benign	Het
Fam185a	G	A	5: 21,652,356 (GRCm39)		probably null	Het
Fcho1	A	G	8: 72,169,507 (GRCm39)	L133P	possibly damaging	Het
Galnt12	G	A	4: 47,108,406 (GRCm39)	R181H	possibly damaging	Het
Gen1	A	G	12: 11,310,977 (GRCm39)	V85A	possibly damaging	Het
Gm12185	A	T	11: 48,806,717 (GRCm39)	I158K	probably benign	Het
Gm5624	T	C	14: 44,799,312 (GRCm39)	R82G		Het
Grap2	A	C	15: 80,532,754 (GRCm39)	N307T	probably benign	Het
H6pd	A	G	4: 150,080,405 (GRCm39)	F147L	probably benign	Het
Haspin	A	T	11: 73,027,418 (GRCm39)	I557N	probably damaging	Het
Hectd4	A	T	5: 121,435,172 (GRCm39)	K961N	possibly damaging	Het
Helz2	A	G	2: 180,872,647 (GRCm39)	M2495T	probably benign	Het
Helz2	A	T	2: 180,877,393 (GRCm39)		probably null	Het
Impdh1	T	C	6: 29,207,168 (GRCm39)	I59V	probably benign	Het
Kcnn1	A	T	8: 71,307,293 (GRCm39)	L200Q	possibly damaging	Het
Kif5c	T	A	2: 49,590,977 (GRCm39)	H276Q	probably damaging	Het
Kntc1	T	C	5: 123,929,001 (GRCm39)	L1259P	probably damaging	Het
Krtap4-1	A	T	11: 99,518,859 (GRCm39)	C50*	probably null	Het
Lat2	T	A	5: 134,634,798 (GRCm39)	D114V	probably damaging	Het
Lrrc41	A	G	4: 115,950,191 (GRCm39)	T535A	possibly damaging	Het
Ly75	A	T	2: 60,164,907 (GRCm39)	V757D	probably damaging	Het
Masp1	C	A	16: 23,288,874 (GRCm39)	R642L	probably damaging	Het
Morn3	A	G	5: 123,175,343 (GRCm39)		probably null	Het
Mpl	A	T	4: 118,306,089 (GRCm39)	I384N		Het
Mtmr14	C	T	6: 113,245,652 (GRCm39)	Q409*	probably null	Het
Nek1	T	A	8: 61,583,179 (GRCm39)	D1272E	probably benign	Het
Oit3	T	C	10: 59,274,716 (GRCm39)	Y28C	probably damaging	Het
Or2z8	T	A	8: 72,812,367 (GRCm39)	I281N	probably damaging	Het
Or4x12-ps1	A	G	2: 89,916,040 (GRCm39)	I255T	possibly damaging	Het
Or5ac22	T	A	16: 59,135,390 (GRCm39)	N127Y	probably damaging	Het
Pcdh15	T	C	10: 74,477,214 (GRCm39)	Y186H	possibly damaging	Het
Pcdhgb1	T	A	18: 37,815,418 (GRCm39)	D636E	probably damaging	Het
Pdgfra	A	T	5: 75,355,675 (GRCm39)	R1062*	probably null	Het
Pds5b	T	C	5: 150,711,807 (GRCm39)	F922L	probably damaging	Het
Pip5k1c	G	A	10: 81,150,953 (GRCm39)		probably null	Het
Ppp2r3d	T	C	9: 101,052,532 (GRCm39)	T226A	possibly damaging	Het
Ptprh	G	A	7: 4,574,780 (GRCm39)	T413I	possibly damaging	Het
Rora	C	A	9: 69,281,367 (GRCm39)	D382E	probably benign	Het
Sacs	T	A	14: 61,441,879 (GRCm39)	N1308K	probably benign	Het
Sgce	C	T	6: 4,707,192 (GRCm39)	D218N	possibly damaging	Het
Slc34a3	A	T	2: 25,122,253 (GRCm39)		probably null	Het
Slit1	T	C	19: 41,589,074 (GRCm39)	Y1471C	probably damaging	Het
Smarca2	G	T	19: 26,661,209 (GRCm39)	V935L	possibly damaging	Het
Smchd1	T	C	17: 71,688,364 (GRCm39)	N1298S	possibly damaging	Het
Sort1	T	A	3: 108,233,323 (GRCm39)		probably null	Het
Spata13	T	C	14: 60,989,226 (GRCm39)	L964P	probably damaging	Het
Spata31h1	G	A	10: 82,128,469 (GRCm39)	L1514F	probably benign	Het
Trav7-6	C	A	14: 53,954,552 (GRCm39)	D47E	probably benign	Het
Ubap2l	A	G	3: 89,917,803 (GRCm39)	F864L	unknown	Het
Vmn2r102	C	T	17: 19,914,363 (GRCm39)	P643S	probably damaging	Het
Zfp112	T	A	7: 23,824,604 (GRCm39)	C195S	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het

Other mutations in Ccnt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00807:Ccnt2	APN	1	127,725,628 (GRCm39)	splice site	probably benign
IGL01370:Ccnt2	APN	1	127,731,250 (GRCm39)	missense	possibly damaging	0.49
IGL02055:Ccnt2	APN	1	127,719,447 (GRCm39)	missense	possibly damaging	0.46
IGL02169:Ccnt2	APN	1	127,702,126 (GRCm39)	splice site	probably benign
R0526:Ccnt2	UTSW	1	127,727,182 (GRCm39)	missense	probably damaging	1.00
R0538:Ccnt2	UTSW	1	127,730,902 (GRCm39)	missense	probably damaging	0.98
R0744:Ccnt2	UTSW	1	127,730,131 (GRCm39)	missense	probably benign	0.42
R0833:Ccnt2	UTSW	1	127,730,131 (GRCm39)	missense	probably benign	0.42
R0836:Ccnt2	UTSW	1	127,730,131 (GRCm39)	missense	probably benign	0.42
R1763:Ccnt2	UTSW	1	127,727,143 (GRCm39)	missense	possibly damaging	0.94
R2037:Ccnt2	UTSW	1	127,731,136 (GRCm39)	missense	probably damaging	1.00
R2159:Ccnt2	UTSW	1	127,702,891 (GRCm39)	missense	probably benign	0.00
R4585:Ccnt2	UTSW	1	127,730,766 (GRCm39)	missense	probably damaging	0.99
R5342:Ccnt2	UTSW	1	127,719,470 (GRCm39)	splice site	silent
R5527:Ccnt2	UTSW	1	127,730,401 (GRCm39)	missense	probably benign	0.00
R5698:Ccnt2	UTSW	1	127,730,965 (GRCm39)	missense	probably benign	0.00
R6606:Ccnt2	UTSW	1	127,730,978 (GRCm39)	missense	probably benign	0.00
R6821:Ccnt2	UTSW	1	127,731,072 (GRCm39)	missense	probably damaging	0.99
R6979:Ccnt2	UTSW	1	127,702,873 (GRCm39)	missense	probably damaging	0.97
R8743:Ccnt2	UTSW	1	127,702,020 (GRCm39)	missense	probably damaging	1.00
R9334:Ccnt2	UTSW	1	127,723,046 (GRCm39)	missense	probably damaging	0.99
R9722:Ccnt2	UTSW	1	127,729,925 (GRCm39)	missense	probably damaging	1.00
X0019:Ccnt2	UTSW	1	127,702,877 (GRCm39)	missense	probably damaging	1.00
X0027:Ccnt2	UTSW	1	127,702,025 (GRCm39)	missense	probably damaging	0.98
Z1177:Ccnt2	UTSW	1	127,730,795 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCATAGAACTTGGAATTCAGG -3'
(R):5'- GTCCTGGCTGAATCTGGATG -3'

Sequencing Primer
(F):5'- GGTAGATTTGTTTCCATGAACTTCC -3'
(R):5'- AATCTGGATGCTGGGGCCAC -3'

Posted On

2019-10-17