Mutagenetix > Incidental Mutation

Incidental Mutation 'R0526:Ccnt2'

48887

Institutional Source

Beutler Lab

Gene Symbol

Ccnt2

Ensembl Gene

ENSMUSG00000026349

Gene Name

cyclin T2

Synonyms

2900041I18Rik, CycT2

MMRRC Submission

038719-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0526 (G1)

Quality Score

192

Status

Not validated

Chromosome

Chromosomal Location

127701901-127732574 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 127727182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 199 (C199G)

Ref Sequence

ENSEMBL: ENSMUSP00000108189 (fasta)

Gene Model

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

AlphaFold

Q7TQK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000027587
AA Change: C199G

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

SMART Domains

Protein: ENSMUSP00000027587
Gene: ENSMUSG00000026349
AA Change: C199G

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: C199G

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

SMART Domains

Protein: ENSMUSP00000108189
Gene: ENSMUSG00000026349
AA Change: C199G

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: ENSMUST00000126850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153359

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	T	4: 137,182,535 (GRCm39)	N230I	possibly damaging	Het
4933427D14Rik	G	T	11: 72,060,609 (GRCm39)	Q687K	probably damaging	Het
Actrt2	A	G	4: 154,751,869 (GRCm39)	L89P	probably damaging	Het
Adamts1	A	C	16: 85,599,260 (GRCm39)	S113R	probably benign	Het
Agxt2	G	T	15: 10,373,948 (GRCm39)	C118F	probably damaging	Het
Akap8	G	A	17: 32,536,266 (GRCm39)	T49I	probably benign	Het
Alk	A	T	17: 72,176,748 (GRCm39)	W1519R	probably damaging	Het
Atf7ip	T	A	6: 136,536,803 (GRCm39)	F12Y	probably damaging	Het
Atp13a5	A	G	16: 29,167,558 (GRCm39)	C131R	probably damaging	Het
Atp8b4	A	G	2: 126,269,283 (GRCm39)	L168P	probably damaging	Het
Blm	G	T	7: 80,155,641 (GRCm39)	S346*	probably null	Het
Cd151	A	T	7: 141,050,504 (GRCm39)	H219L	probably damaging	Het
Cd200r2	A	T	16: 44,735,410 (GRCm39)	R248S	probably damaging	Het
Cdh3	A	G	8: 107,282,078 (GRCm39)	D822G	possibly damaging	Het
Clec4b1	T	C	6: 123,046,729 (GRCm39)		probably null	Het
Cluh	C	A	11: 74,556,812 (GRCm39)	L951I	probably benign	Het
Cog7	A	T	7: 121,562,494 (GRCm39)		probably null	Het
Col25a1	C	A	3: 130,270,043 (GRCm39)	P197Q	probably damaging	Het
Csde1	T	A	3: 102,963,742 (GRCm39)	S636R	possibly damaging	Het
Ect2l	C	A	10: 18,075,688 (GRCm39)	C66F	possibly damaging	Het
Elac2	T	C	11: 64,890,262 (GRCm39)	M671T	probably benign	Het
Evi5	T	C	5: 107,969,614 (GRCm39)	N143S	probably benign	Het
Ext2	A	G	2: 93,636,430 (GRCm39)	V228A	probably damaging	Het
Fbxo38	A	G	18: 62,639,051 (GRCm39)	Y1084H	probably damaging	Het
Fcgr4	T	A	1: 170,856,760 (GRCm39)	L209Q	probably damaging	Het
Fgd3	C	T	13: 49,450,000 (GRCm39)	S83N	probably benign	Het
Gigyf2	T	A	1: 87,349,215 (GRCm39)	M664K	probably benign	Het
Il27ra	A	T	8: 84,766,128 (GRCm39)	S219T	probably benign	Het
Itprid2	A	G	2: 79,487,690 (GRCm39)	D591G	probably benign	Het
Kif15	T	C	9: 122,826,862 (GRCm39)	V800A	probably damaging	Het
Lmo7	T	A	14: 102,137,996 (GRCm39)	D666E	probably damaging	Het
Lrp5	T	C	19: 3,678,295 (GRCm39)	D520G	probably damaging	Het
Lrriq3	T	A	3: 154,893,934 (GRCm39)	M545K	probably benign	Het
Lsm5	T	A	6: 56,680,310 (GRCm39)	D44V	probably damaging	Het
Man1c1	G	T	4: 134,296,379 (GRCm39)	Y430*	probably null	Het
Map4	T	A	9: 109,866,346 (GRCm39)		probably null	Het
Megf6	A	G	4: 154,343,398 (GRCm39)	K561R	probably benign	Het
Myo1e	T	C	9: 70,229,680 (GRCm39)	Y173H	probably damaging	Het
Myo6	T	A	9: 80,190,823 (GRCm39)	S791R	possibly damaging	Het
Nol11	C	A	11: 107,075,597 (GRCm39)	E144*	probably null	Het
Ntng2	C	T	2: 29,087,074 (GRCm39)	R416Q	probably damaging	Het
Nxpe3	T	A	16: 55,686,880 (GRCm39)	I43F	possibly damaging	Het
Or4g17	T	A	2: 111,209,837 (GRCm39)	V164E	possibly damaging	Het
Or5t5	A	T	2: 86,616,691 (GRCm39)	T206S	possibly damaging	Het
Pkd1l2	T	C	8: 117,808,999 (GRCm39)	I64V	probably damaging	Het
Prf1	G	A	10: 61,136,033 (GRCm39)	R103H	probably benign	Het
Rest	A	G	5: 77,428,874 (GRCm39)	D431G	probably damaging	Het
Serpina10	A	T	12: 103,583,127 (GRCm39)	L439Q	probably damaging	Het
Sgk3	T	G	1: 9,951,804 (GRCm39)	V176G	probably damaging	Het
Slc19a3	A	G	1: 83,000,454 (GRCm39)	S188P	probably damaging	Het
Sorbs1	A	G	19: 40,338,392 (GRCm39)	I336T	probably damaging	Het
Strip1	C	T	3: 107,527,355 (GRCm39)		probably null	Het
Syt4	T	C	18: 31,576,799 (GRCm39)	E185G	possibly damaging	Het
Tcaf3	T	A	6: 42,566,738 (GRCm39)	I784F	probably damaging	Het
Tgfbr3l	G	T	8: 4,299,439 (GRCm39)	R74L	possibly damaging	Het
Thoc7	A	G	14: 13,949,282 (GRCm38)	M194T	probably benign	Het
Thsd7b	T	C	1: 129,879,129 (GRCm39)	Y989H	probably damaging	Het
Tmem156	C	T	5: 65,233,161 (GRCm39)	V134I	probably benign	Het
Tnks	A	T	8: 35,320,457 (GRCm39)	V738E	probably benign	Het
Trpm6	A	T	19: 18,770,240 (GRCm39)	I342F	probably damaging	Het
Vmn2r69	A	T	7: 85,060,711 (GRCm39)	V291D	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 112,207,172 (GRCm39)		probably benign	Het
Wnk1	T	C	6: 119,928,953 (GRCm39)	T1292A	probably damaging	Het
Yes1	T	A	5: 32,812,584 (GRCm39)	C285S	probably benign	Het
Zbed6	T	C	1: 133,586,472 (GRCm39)	I288M	probably damaging	Het
Zbtb49	T	C	5: 38,371,263 (GRCm39)	N206S	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
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
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'- CCCTGCTCTGAGCCTTGAACTATG -3'
(R):5'- CAGAATTGTCCACTGCTCCAGTCG -3'

Sequencing Primer
(F):5'- atataCTACTGAGGAGTGAAATGAGG -3'
(R):5'- CCAGTCGGGCAGAGTATACAC -3'

Posted On

2013-06-12