Mutagenetix > Incidental Mutation

Incidental Mutation 'R2037:Ccnt2'

224713

Institutional Source

Beutler Lab

Gene Symbol

Ccnt2

Ensembl Gene

ENSMUSG00000026349

Gene Name

cyclin T2

Synonyms

2900041I18Rik, CycT2

MMRRC Submission

040044-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2037 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127701901-127732574 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127731136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 671 (Y671C)

Ref Sequence

ENSEMBL: ENSMUSP00000027587 (fasta)

Gene Model

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

AlphaFold

Q7TQK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000027587
AA Change: Y671C

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

SMART Domains

Protein: ENSMUSP00000027587
Gene: ENSMUSG00000026349
AA Change: Y671C

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

silent
Transcript: ENSMUST00000112570

SMART Domains

Protein: ENSMUSP00000108189
Gene: ENSMUSG00000026349

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153359

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,980,810 (GRCm39)		probably null	Het
AI987944	T	C	7: 41,023,815 (GRCm39)	Y391C	probably benign	Het
Ankfn1	A	T	11: 89,346,946 (GRCm39)	S296T	probably benign	Het
Apob	A	G	12: 8,057,488 (GRCm39)	D1957G	probably benign	Het
Baz1a	G	T	12: 54,976,431 (GRCm39)	P415Q	probably damaging	Het
Brca2	T	A	5: 150,464,134 (GRCm39)	H1299Q	probably benign	Het
C7	G	T	15: 5,063,720 (GRCm39)	S227*	probably null	Het
Catsperb	A	T	12: 101,474,221 (GRCm39)	R306S	probably damaging	Het
Cbx3	T	A	6: 51,448,793 (GRCm39)		probably null	Het
Crocc	A	G	4: 140,774,253 (GRCm39)		probably null	Het
Ctr9	G	A	7: 110,646,014 (GRCm39)	V669I	probably benign	Het
Dck	T	G	5: 88,920,576 (GRCm39)	Y99D	probably damaging	Het
Ddx52	T	A	11: 83,835,432 (GRCm39)	D119E	probably benign	Het
Dnah10	A	T	5: 124,823,768 (GRCm39)	K596N	probably benign	Het
Dnah7a	A	T	1: 53,621,741 (GRCm39)	V1128E	probably benign	Het
Dph1	A	T	11: 75,076,679 (GRCm39)		probably null	Het
Enah	G	A	1: 181,749,537 (GRCm39)	P415L	probably damaging	Het
Enthd1	A	G	15: 80,444,550 (GRCm39)	S2P	possibly damaging	Het
Erc1	A	C	6: 119,699,216 (GRCm39)	V802G	possibly damaging	Het
F8	ATCTCTCTC	ATCTCTC	X: 74,366,604 (GRCm39)		probably null	Het
Fam169a	C	A	13: 97,243,600 (GRCm39)	A210E	probably benign	Het
Fcmr	A	G	1: 130,806,070 (GRCm39)	D342G	possibly damaging	Het
Fgfr4	T	G	13: 55,315,702 (GRCm39)	V743G	possibly damaging	Het
Fsip2	A	G	2: 82,808,856 (GRCm39)	D1725G	probably damaging	Het
Heatr5b	A	T	17: 79,136,934 (GRCm39)	C195*	probably null	Het
Herc2	G	A	7: 55,855,709 (GRCm39)	A3882T	probably damaging	Het
Il20	T	A	1: 130,836,115 (GRCm39)	N143Y	probably damaging	Het
Inpp5b	A	G	4: 124,692,092 (GRCm39)	S892G	probably damaging	Het
Ipo13	A	T	4: 117,761,858 (GRCm39)	Y447*	probably null	Het
Itprid1	A	G	6: 55,874,860 (GRCm39)	N270S	probably benign	Het
Kbtbd12	A	T	6: 88,594,779 (GRCm39)	N350K	probably benign	Het
Kiz	T	C	2: 146,811,880 (GRCm39)	F663S	probably damaging	Het
Matn2	A	G	15: 34,433,263 (GRCm39)	D870G	probably benign	Het
Methig1	C	T	15: 100,251,467 (GRCm39)	A126V	probably benign	Het
Mme	A	G	3: 63,235,681 (GRCm39)	D209G	probably null	Het
Mroh4	A	G	15: 74,481,610 (GRCm39)	F811L	possibly damaging	Het
Myo9b	G	T	8: 71,743,510 (GRCm39)	K190N	probably damaging	Het
Ncf1	T	C	5: 134,258,406 (GRCm39)	I6V	probably damaging	Het
Nmt2	T	C	2: 3,310,618 (GRCm39)	F121L	probably damaging	Het
Nol10	A	G	12: 17,411,152 (GRCm39)	D183G	probably benign	Het
Nsun7	T	C	5: 66,418,429 (GRCm39)	V53A	probably benign	Het
Or10u4	T	C	10: 129,802,009 (GRCm39)	I187V	probably benign	Het
Or8j3	T	C	2: 86,028,176 (GRCm39)	S307G	probably benign	Het
Or8k22	T	C	2: 86,162,774 (GRCm39)	N309D	probably benign	Het
Pappa2	A	T	1: 158,784,214 (GRCm39)	Y265*	probably null	Het
Pigg	G	A	5: 108,486,518 (GRCm39)	A724T	probably damaging	Het
Pik3r4	C	T	9: 105,527,534 (GRCm39)	R296C	probably benign	Het
Pkhd1l1	A	G	15: 44,431,617 (GRCm39)		probably null	Het
Pld4	A	G	12: 112,734,992 (GRCm39)	D483G	probably damaging	Het
Ppip5k1	C	T	2: 121,173,674 (GRCm39)	R399H	probably damaging	Het
Qrfpr	A	T	3: 36,236,806 (GRCm39)	H198Q	probably damaging	Het
Rasgrf2	A	T	13: 92,050,748 (GRCm39)	D883E	probably damaging	Het
Retnlg	T	C	16: 48,694,615 (GRCm39)	C88R	probably damaging	Het
Sin3a	C	T	9: 57,004,109 (GRCm39)	T287I	probably benign	Het
Slc44a1	GCC	GCCCCC	4: 53,563,243 (GRCm39)		probably benign	Het
Sppl2c	G	C	11: 104,077,307 (GRCm39)	V36L	probably benign	Het
Srp72	T	A	5: 77,124,338 (GRCm39)	I68N	probably damaging	Het
Srrm3	T	A	5: 135,883,231 (GRCm39)	S195R	probably damaging	Het
Srrm4	T	A	5: 116,605,887 (GRCm39)		probably benign	Het
Ssb	A	G	2: 69,699,163 (GRCm39)	S199G	probably benign	Het
Sult2a6	T	A	7: 13,988,634 (GRCm39)	Y42F	probably damaging	Het
Syne2	A	G	12: 76,072,343 (GRCm39)	T120A	probably benign	Het
Tas1r1	A	G	4: 152,112,627 (GRCm39)	F809L	probably damaging	Het
Tead3	A	G	17: 28,555,544 (GRCm39)	S117P	probably damaging	Het
Tefm	C	T	11: 80,031,056 (GRCm39)	R60H	probably damaging	Het
Tmem104	G	A	11: 115,092,221 (GRCm39)	R110H	possibly damaging	Het
Tnxb	G	A	17: 34,918,179 (GRCm39)	G2364D	probably damaging	Het
Vmn1r211	T	A	13: 23,036,134 (GRCm39)	I178F	probably damaging	Het
Vmn1r6	A	T	6: 56,980,109 (GRCm39)	Y235F	probably damaging	Het
Xrcc5	C	A	1: 72,385,529 (GRCm39)	T540K	probably benign	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
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
R7512:Ccnt2	UTSW	1	127,730,031 (GRCm39)	missense	possibly damaging	0.85
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'- CTCCAGTGCAAGGAAGAAGCTG -3'
(R):5'- GGGCGTTTTCCATTCCAAC -3'

Sequencing Primer
(F):5'- CAGTGCAAGGAAGAAGCTGCATAG -3'
(R):5'- GGCAAGGAAAAGTTGACCTAAAC -3'

Posted On

2014-08-25