Mutagenetix > Incidental Mutation

Incidental Mutation 'R1763:Ccnt2'

193155

Institutional Source

Beutler Lab

Gene Symbol

Ccnt2

Ensembl Gene

ENSMUSG00000026349

Gene Name

cyclin T2

Synonyms

2900041I18Rik, CycT2

MMRRC Submission

039795-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127701901-127732574 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127727143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 186 (F186L)

Ref Sequence

ENSEMBL: ENSMUSP00000108189 (fasta)

Gene Model

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

AlphaFold

Q7TQK0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027587
AA Change: F186L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027587
Gene: ENSMUSG00000026349
AA Change: F186L

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

possibly damaging
Transcript: ENSMUST00000112570
AA Change: F186L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108189
Gene: ENSMUSG00000026349
AA Change: F186L

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

Meta Mutation Damage Score

0.1382

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

98% (85/87)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,396,529 (GRCm39)	V401A	probably benign	Het
Abca4	G	A	3: 121,904,330 (GRCm39)	V794M	probably benign	Het
Abca4	A	T	3: 121,957,479 (GRCm39)	T772S	probably damaging	Het
Acox3	G	A	5: 35,765,683 (GRCm39)		probably null	Het
Adamts17	A	G	7: 66,797,463 (GRCm39)	N1060S	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Als2	T	C	1: 59,214,150 (GRCm39)	Y1346C	probably benign	Het
Apol10b	A	T	15: 77,469,215 (GRCm39)	F321I	probably benign	Het
Atp5pb	A	G	3: 105,858,905 (GRCm39)		probably null	Het
Bloc1s5	A	G	13: 38,803,060 (GRCm39)		probably benign	Het
Btbd9	T	C	17: 30,553,271 (GRCm39)	N397S	possibly damaging	Het
Cacna1d	A	G	14: 29,821,153 (GRCm39)	V1121A	probably benign	Het
Cad	G	A	5: 31,218,295 (GRCm39)	V460I	probably damaging	Het
Caprin2	A	T	6: 148,744,619 (GRCm39)	D935E	probably damaging	Het
Ccdc150	A	T	1: 54,393,795 (GRCm39)	K686N	probably benign	Het
Cd5l	G	A	3: 87,275,187 (GRCm39)		probably null	Het
Chrna7	A	G	7: 62,749,000 (GRCm39)	V494A	probably benign	Het
Clec2i	T	G	6: 128,872,388 (GRCm39)	Y198*	probably null	Het
Col22a1	A	G	15: 71,879,025 (GRCm39)	V44A	probably damaging	Het
Cspg4	T	A	9: 56,794,263 (GRCm39)	I666N	probably damaging	Het
Cyp3a16	A	T	5: 145,401,841 (GRCm39)		probably null	Het
Dlk1	G	T	12: 109,424,045 (GRCm39)	C102F	probably damaging	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 54,943,572 (GRCm39)		probably benign	Het
Dscc1	T	A	15: 54,947,535 (GRCm39)	H215L	probably damaging	Het
Dus1l	C	G	11: 120,686,497 (GRCm39)	G15R	probably benign	Het
Eps8l1	G	T	7: 4,474,822 (GRCm39)	V268L	probably benign	Het
F2	A	C	2: 91,465,251 (GRCm39)	C104W	probably damaging	Het
F5	C	A	1: 164,020,104 (GRCm39)	Q860K	probably benign	Het
Fmn2	T	C	1: 174,329,832 (GRCm39)	L74P	unknown	Het
Frmd6	G	A	12: 70,940,396 (GRCm39)	R347Q	possibly damaging	Het
Gabbr1	T	G	17: 37,365,659 (GRCm39)	S158A	probably damaging	Het
Galc	T	C	12: 98,200,525 (GRCm39)	N295S	probably damaging	Het
Gm6408	A	T	5: 146,419,132 (GRCm39)	N49I	probably damaging	Het
Grm1	T	A	10: 10,955,610 (GRCm39)	T225S	possibly damaging	Het
Grm8	C	T	6: 27,285,866 (GRCm39)	V849I	possibly damaging	Het
Hmcn2	A	G	2: 31,204,602 (GRCm39)	D59G	probably damaging	Het
Iars1	G	A	13: 49,876,553 (GRCm39)		probably null	Het
Ifi27l2a	C	T	12: 103,403,941 (GRCm39)	A127V	possibly damaging	Het
Ikbip	A	G	10: 90,932,343 (GRCm39)	N329S	probably damaging	Het
Ikbke	T	C	1: 131,193,614 (GRCm39)	T479A	probably benign	Het
Krt12	T	A	11: 99,306,886 (GRCm39)	N472I	probably damaging	Het
Lmnb2	A	T	10: 80,743,025 (GRCm39)	L193Q	probably damaging	Het
Lrriq4	T	C	3: 30,704,401 (GRCm39)	V128A	probably benign	Het
Map4k4	C	A	1: 40,039,917 (GRCm39)		probably benign	Het
Mtmr7	T	C	8: 41,004,852 (GRCm39)	T575A	probably benign	Het
Myh13	G	A	11: 67,225,402 (GRCm39)	A256T	probably benign	Het
Napepld	A	G	5: 21,888,408 (GRCm39)	Y14H	probably benign	Het
Npr1	T	C	3: 90,366,644 (GRCm39)	T552A	probably damaging	Het
Nudt15	A	G	14: 73,759,087 (GRCm39)	F127S	probably benign	Het
Nwd2	T	A	5: 63,965,614 (GRCm39)	S1733T	probably benign	Het
Or11a4	T	C	17: 37,536,321 (GRCm39)	F102L	probably benign	Het
Or4c102	A	G	2: 88,422,780 (GRCm39)	I211V	probably benign	Het
Or4c10b	G	A	2: 89,711,473 (GRCm39)	G101E	probably damaging	Het
Or6z1	T	G	7: 6,504,440 (GRCm39)	I262L	probably benign	Het
Or8b44	A	G	9: 38,410,334 (GRCm39)	Y123C	probably damaging	Het
Paqr7	A	T	4: 134,234,409 (GRCm39)	I89F	probably benign	Het
Pidd1	C	A	7: 141,019,543 (GRCm39)	V706L	probably benign	Het
Polr3c	A	T	3: 96,620,911 (GRCm39)	I469N	probably damaging	Het
Ppip5k1	A	G	2: 121,179,028 (GRCm39)	Y233H	probably damaging	Het
Psmc3	A	G	2: 90,886,340 (GRCm39)	T166A	possibly damaging	Het
Ptchd3	A	T	11: 121,733,368 (GRCm39)	I753L	probably benign	Het
Rad21	T	C	15: 51,841,566 (GRCm39)	K50R	probably damaging	Het
Rad54b	A	G	4: 11,604,989 (GRCm39)	E479G	possibly damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rgs20	C	T	1: 4,980,863 (GRCm39)	R154Q	probably damaging	Het
Sbf1	T	C	15: 89,178,628 (GRCm39)	D1449G	probably damaging	Het
Sema4g	C	T	19: 44,990,044 (GRCm39)	R708*	probably null	Het
Septin9	T	C	11: 117,181,254 (GRCm39)	I18T	probably benign	Het
Serpinb6b	A	G	13: 33,162,041 (GRCm39)	E280G	probably damaging	Het
Slamf6	T	C	1: 171,770,154 (GRCm39)		probably benign	Het
Slc6a21	G	A	7: 44,937,158 (GRCm39)	W554*	probably null	Het
Slco1a4	A	C	6: 141,758,457 (GRCm39)	I518R	probably benign	Het
Stab1	T	A	14: 30,890,373 (GRCm39)	Q26L	probably benign	Het
Stox1	A	G	10: 62,503,744 (GRCm39)	F104L	probably damaging	Het
Suco	T	C	1: 161,662,518 (GRCm39)	K638E	possibly damaging	Het
Synpo	T	C	18: 60,735,856 (GRCm39)	K458E	probably damaging	Het
Szt2	A	T	4: 118,229,565 (GRCm39)	W2820R	unknown	Het
Tmtc1	C	A	6: 148,196,116 (GRCm39)	G499W	probably damaging	Het
Tonsl	A	C	15: 76,522,266 (GRCm39)	S242R	probably damaging	Het
Trpc4	G	T	3: 54,102,243 (GRCm39)	S47I	possibly damaging	Het
Zfp106	G	A	2: 120,350,909 (GRCm39)	R1581C	probably benign	Het
Zfp27	A	G	7: 29,594,801 (GRCm39)	L388P	possibly damaging	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
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'- CGGGAACTGTTCATTAAGCC -3'
(R):5'- GTATACACAGAAGGTTCTAGCATCC -3'

Posted On

2014-05-23