Mutagenetix > Incidental Mutation

Incidental Mutation 'R2159:Ccnt2'

235022

Institutional Source

Beutler Lab

Gene Symbol

Ccnt2

Ensembl Gene

ENSMUSG00000026349

Gene Name

cyclin T2

Synonyms

2900041I18Rik, CycT2

MMRRC Submission

040162-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2159 (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 127702891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 71 (H71R)

Ref Sequence

ENSEMBL: ENSMUSP00000108189 (fasta)

Gene Model

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

AlphaFold

Q7TQK0

Predicted Effect

probably benign
Transcript: ENSMUST00000027587
AA Change: H71R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000027587
Gene: ENSMUSG00000026349
AA Change: H71R

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 benign
Transcript: ENSMUST00000112570
AA Change: H71R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000108189
Gene: ENSMUSG00000026349
AA Change: H71R

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: ENSMUST00000125760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188163

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	G	A	12: 81,607,241 (GRCm39)	P174S	probably benign	Het
Aida	C	T	1: 183,103,234 (GRCm39)	P185S	probably benign	Het
Alg11	T	G	8: 22,555,861 (GRCm39)	I374R	probably benign	Het
Ano9	T	C	7: 140,688,030 (GRCm39)	I229V	probably benign	Het
Apob	A	T	12: 8,060,081 (GRCm39)	L2821F	probably benign	Het
Atp10b	C	T	11: 43,042,680 (GRCm39)	T80I	possibly damaging	Het
BC024139	T	C	15: 76,005,688 (GRCm39)	H478R	probably damaging	Het
Btbd1	A	T	7: 81,450,804 (GRCm39)	D325E	possibly damaging	Het
Camk2a	G	A	18: 61,090,257 (GRCm39)	C199Y	probably damaging	Het
Casp3	A	G	8: 47,087,323 (GRCm39)	D90G	probably damaging	Het
Cdk2ap1	G	A	5: 124,486,667 (GRCm39)	R65*	probably null	Het
Cebpb	G	T	2: 167,531,173 (GRCm39)	A78S	probably benign	Het
Col5a3	A	G	9: 20,682,606 (GRCm39)	F1613L	unknown	Het
Cpd	T	C	11: 76,688,467 (GRCm39)	D935G	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cwc27	A	G	13: 104,940,837 (GRCm39)	I174T	probably damaging	Het
Cyp21a1	C	A	17: 35,021,378 (GRCm39)	R331L	probably benign	Het
Dnah5	A	G	15: 28,252,691 (GRCm39)	T795A	probably benign	Het
Eif2ak2	A	G	17: 79,181,447 (GRCm39)	V100A	possibly damaging	Het
Foxa3	A	G	7: 18,748,109 (GRCm39)	V339A	probably benign	Het
Gp2	T	C	7: 119,051,507 (GRCm39)	D236G	probably benign	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Gzmd	T	A	14: 56,368,153 (GRCm39)	H102L	probably damaging	Het
Klk1b1	A	T	7: 43,619,857 (GRCm39)	I139F	probably damaging	Het
Lcmt2	G	A	2: 120,969,766 (GRCm39)	P439L	probably damaging	Het
Loxl4	C	T	19: 42,588,446 (GRCm39)	A570T	probably damaging	Het
Mga	T	A	2: 119,750,124 (GRCm39)	H674Q	probably damaging	Het
Mybpc3	A	T	2: 90,955,715 (GRCm39)	K583M	probably damaging	Het
Ncoa6	G	T	2: 155,249,633 (GRCm39)	P1224T	probably damaging	Het
Nostrin	A	G	2: 69,011,266 (GRCm39)		probably null	Het
Or13e8	T	C	4: 43,697,110 (GRCm39)	H21R	probably benign	Het
Or4c3	A	T	2: 89,851,882 (GRCm39)	V176E	probably damaging	Het
Oxsr1	A	C	9: 119,133,880 (GRCm39)	D58E	possibly damaging	Het
Parm1	A	G	5: 91,760,923 (GRCm39)	Y265C	probably damaging	Het
Phf10	C	T	17: 15,172,926 (GRCm39)	E304K	probably damaging	Het
Prmt5	T	C	14: 54,752,795 (GRCm39)	T139A	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptp4a3	A	G	15: 73,623,865 (GRCm39)	T32A	probably benign	Het
Pwwp2b	A	T	7: 138,834,844 (GRCm39)	D95V	possibly damaging	Het
Rad51ap2	T	C	12: 11,507,752 (GRCm39)	L558S	possibly damaging	Het
Rapgef4	A	G	2: 72,005,225 (GRCm39)	D80G	probably damaging	Het
Sec24a	T	G	11: 51,603,177 (GRCm39)	H757P	probably damaging	Het
Sema4d	T	C	13: 51,874,571 (GRCm39)	N129D	probably damaging	Het
Serpini1	A	G	3: 75,531,251 (GRCm39)	T323A	probably benign	Het
Setd1a	G	A	7: 127,384,661 (GRCm39)	R504H	possibly damaging	Het
Sftpb	T	C	6: 72,286,770 (GRCm39)	C226R	probably damaging	Het
Sp8	T	C	12: 118,812,441 (GRCm39)	S99P	possibly damaging	Het
Srgap3	A	G	6: 112,748,339 (GRCm39)	F438L	probably damaging	Het
Stim2	T	C	5: 54,267,156 (GRCm39)	Y365H	probably damaging	Het
Stk36	A	G	1: 74,673,896 (GRCm39)	Q1263R	probably benign	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Troap	G	T	15: 98,975,467 (GRCm39)	A184S	probably damaging	Het
Ttn	G	A	2: 76,729,671 (GRCm39)		probably benign	Het
Vmn2r108	C	A	17: 20,689,363 (GRCm39)	A531S	probably benign	Het
Vmn2r12	T	A	5: 109,239,340 (GRCm39)	I408F	probably benign	Het
Vmn2r8	T	A	5: 108,950,169 (GRCm39)	E226V	probably benign	Het
Vmo1	A	G	11: 70,404,608 (GRCm39)	F131S	probably benign	Het
Vwf	T	C	6: 125,603,304 (GRCm39)	F885L	probably damaging	Het
Wdpcp	A	T	11: 21,807,476 (GRCm39)	M618L	probably benign	Het
Wdr90	T	C	17: 26,070,715 (GRCm39)	E1072G	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
R2037:Ccnt2	UTSW	1	127,731,136 (GRCm39)	missense	probably damaging	1.00
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'- CTCTCCCTACGTAGCGTATTAG -3'
(R):5'- ACGAGGCAAAACGTTTATTGC -3'

Sequencing Primer
(F):5'- ATTTGGCATCCAGACTGATTTC -3'
(R):5'- CGAGGCAAAACGTTTATTGCATAAC -3'

Posted On

2014-10-01