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

127774164-127808061 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127799406 bp (GRCm38)

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
Abca4	G	A	3: 122,110,681	V794M	probably benign	Het
Abca4	A	T	3: 122,163,830	T772S	probably damaging	Het
Acox3	G	A	5: 35,608,339		probably null	Het
Adamts17	A	G	7: 67,147,715	N1060S	probably damaging	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Als2	T	C	1: 59,174,991	Y1346C	probably benign	Het
Apol10b	A	T	15: 77,585,015	F321I	probably benign	Het
Atp5f1	A	G	3: 105,951,589		probably null	Het
Bloc1s5	A	G	13: 38,619,084		probably benign	Het
Btbd9	T	C	17: 30,334,297	N397S	possibly damaging	Het
Cacna1d	A	G	14: 30,099,196	V1121A	probably benign	Het
Cad	G	A	5: 31,060,951	V460I	probably damaging	Het
Caprin2	A	T	6: 148,843,121	D935E	probably damaging	Het
Ccdc150	A	T	1: 54,354,636	K686N	probably benign	Het
Cd5l	G	A	3: 87,367,880		probably null	Het
Chrna7	A	G	7: 63,099,252	V494A	probably benign	Het
Clec2i	T	G	6: 128,895,425	Y198*	probably null	Het
Col22a1	A	G	15: 72,007,176	V44A	probably damaging	Het
Cspg4	T	A	9: 56,886,979	I666N	probably damaging	Het
Cyp3a16	A	T	5: 145,465,031		probably null	Het
Dlk1	G	T	12: 109,458,119	C102F	probably damaging	Het
Dscc1	T	A	15: 55,084,139	H215L	probably damaging	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 55,080,176		probably benign	Het
Dus1l	C	G	11: 120,795,671	G15R	probably benign	Het
Eps8l1	G	T	7: 4,471,823	V268L	probably benign	Het
F2	A	C	2: 91,634,906	C104W	probably damaging	Het
F5	C	A	1: 164,192,535	Q860K	probably benign	Het
Fmn2	T	C	1: 174,502,266	L74P	unknown	Het
Frmd6	G	A	12: 70,893,622	R347Q	possibly damaging	Het
Gabbr1	T	G	17: 37,054,767	S158A	probably damaging	Het
Galc	T	C	12: 98,234,266	N295S	probably damaging	Het
Gm436	A	G	4: 144,669,959	V401A	probably benign	Het
Gm6408	A	T	5: 146,482,322	N49I	probably damaging	Het
Grm1	T	A	10: 11,079,866	T225S	possibly damaging	Het
Grm8	C	T	6: 27,285,867	V849I	possibly damaging	Het
Hmcn2	A	G	2: 31,314,590	D59G	probably damaging	Het
Iars	G	A	13: 49,723,077		probably null	Het
Ifi27	C	T	12: 103,437,682	A127V	possibly damaging	Het
Ikbip	A	G	10: 91,096,481	N329S	probably damaging	Het
Ikbke	T	C	1: 131,265,877	T479A	probably benign	Het
Krt12	T	A	11: 99,416,060	N472I	probably damaging	Het
Lmnb2	A	T	10: 80,907,191	L193Q	probably damaging	Het
Lrriq4	T	C	3: 30,650,252	V128A	probably benign	Het
Map4k4	C	A	1: 40,000,757		probably benign	Het
Mtmr7	T	C	8: 40,551,811	T575A	probably benign	Het
Myh13	G	A	11: 67,334,576	A256T	probably benign	Het
Napepld	A	G	5: 21,683,410	Y14H	probably benign	Het
Npr1	T	C	3: 90,459,337	T552A	probably damaging	Het
Nudt15	A	G	14: 73,521,647	F127S	probably benign	Het
Nwd2	T	A	5: 63,808,271	S1733T	probably benign	Het
Olfr1189	A	G	2: 88,592,436	I211V	probably benign	Het
Olfr1257	G	A	2: 89,881,129	G101E	probably damaging	Het
Olfr1348	T	G	7: 6,501,441	I262L	probably benign	Het
Olfr907	A	G	9: 38,499,038	Y123C	probably damaging	Het
Olfr96	T	C	17: 37,225,430	F102L	probably benign	Het
Paqr7	A	T	4: 134,507,098	I89F	probably benign	Het
Pidd1	C	A	7: 141,439,630	V706L	probably benign	Het
Polr3c	A	T	3: 96,713,595	I469N	probably damaging	Het
Ppip5k1	A	G	2: 121,348,547	Y233H	probably damaging	Het
Psmc3	A	G	2: 91,055,995	T166A	possibly damaging	Het
Ptchd3	A	T	11: 121,842,542	I753L	probably benign	Het
Rad21	T	C	15: 51,978,170	K50R	probably damaging	Het
Rad54b	A	G	4: 11,604,989	E479G	possibly damaging	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Rgs20	C	T	1: 4,910,640	R154Q	probably damaging	Het
Sbf1	T	C	15: 89,294,425	D1449G	probably damaging	Het
Sema4g	C	T	19: 45,001,605	R708*	probably null	Het
Sept9	T	C	11: 117,290,428	I18T	probably benign	Het
Serpinb6b	A	G	13: 32,978,058	E280G	probably damaging	Het
Slamf6	T	C	1: 171,942,587		probably benign	Het
Slc6a21	G	A	7: 45,287,734	W554*	probably null	Het
Slco1a4	A	C	6: 141,812,731	I518R	probably benign	Het
Stab1	T	A	14: 31,168,416	Q26L	probably benign	Het
Stox1	A	G	10: 62,667,965	F104L	probably damaging	Het
Suco	T	C	1: 161,834,949	K638E	possibly damaging	Het
Synpo	T	C	18: 60,602,784	K458E	probably damaging	Het
Szt2	A	T	4: 118,372,368	W2820R	unknown	Het
Tmtc1	C	A	6: 148,294,618	G499W	probably damaging	Het
Tonsl	A	C	15: 76,638,066	S242R	probably damaging	Het
Trpc4	G	T	3: 54,194,822	S47I	possibly damaging	Het
Zfp106	G	A	2: 120,520,428	R1581C	probably benign	Het
Zfp27	A	G	7: 29,895,376	L388P	possibly damaging	Het

Other mutations in Ccnt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00807:Ccnt2	APN	1	127797891	splice site	probably benign
IGL01370:Ccnt2	APN	1	127803513	missense	possibly damaging	0.49
IGL02055:Ccnt2	APN	1	127791710	missense	possibly damaging	0.46
IGL02169:Ccnt2	APN	1	127774389	splice site	probably benign
R0526:Ccnt2	UTSW	1	127799445	missense	probably damaging	1.00
R0538:Ccnt2	UTSW	1	127803165	missense	probably damaging	0.98
R0744:Ccnt2	UTSW	1	127802394	missense	probably benign	0.42
R0833:Ccnt2	UTSW	1	127802394	missense	probably benign	0.42
R0836:Ccnt2	UTSW	1	127802394	missense	probably benign	0.42
R2037:Ccnt2	UTSW	1	127803399	missense	probably damaging	1.00
R2159:Ccnt2	UTSW	1	127775154	missense	probably benign	0.00
R4585:Ccnt2	UTSW	1	127803029	missense	probably damaging	0.99
R5342:Ccnt2	UTSW	1	127791733	splice site	silent
R5527:Ccnt2	UTSW	1	127802664	missense	probably benign	0.00
R5698:Ccnt2	UTSW	1	127803228	missense	probably benign	0.00
R6606:Ccnt2	UTSW	1	127803241	missense	probably benign	0.00
R6821:Ccnt2	UTSW	1	127803335	missense	probably damaging	0.99
R6979:Ccnt2	UTSW	1	127775136	missense	probably damaging	0.97
R7512:Ccnt2	UTSW	1	127802294	missense	possibly damaging	0.85
R8743:Ccnt2	UTSW	1	127774283	missense	probably damaging	1.00
R9334:Ccnt2	UTSW	1	127795309	missense	probably damaging	0.99
R9722:Ccnt2	UTSW	1	127802188	missense	probably damaging	1.00
X0019:Ccnt2	UTSW	1	127775140	missense	probably damaging	1.00
X0027:Ccnt2	UTSW	1	127774288	missense	probably damaging	0.98
Z1177:Ccnt2	UTSW	1	127803058	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