Mutagenetix > Incidental Mutation

Incidental Mutation 'R4996:Ccnl2'

385240

Institutional Source

Beutler Lab

Gene Symbol

Ccnl2

Ensembl Gene

ENSMUSG00000029068

Gene Name

cyclin L2

Synonyms

1700010A01Rik, Pcee, 1810019L15Rik, ania-6b, 2010319M22Rik

MMRRC Submission

042590-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.399) question?

Stock #

R4996 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155896946-155909000 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155897981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 141 (D141E)

Ref Sequence

ENSEMBL: ENSMUSP00000030944 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030942] [ENSMUST00000030944] [ENSMUST00000137487] [ENSMUST00000185148]

AlphaFold

Q9JJA7

Predicted Effect

probably benign
Transcript: ENSMUST00000030942

SMART Domains

Protein: ENSMUSP00000030942
Gene: ENSMUSG00000029066

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L20	11	116	2.3e-38	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030944
AA Change: D141E

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030944
Gene: ENSMUSG00000029068
AA Change: D141E

Domain	Start	End	E-Value	Type
low complexity region	1	30	N/A	INTRINSIC
CYCLIN	81	183	8.74e-11	SMART
Cyclin_C	192	315	9.58e-5	SMART
CYCLIN	196	280	1.24e-15	SMART
low complexity region	334	351	N/A	INTRINSIC
low complexity region	376	428	N/A	INTRINSIC
Blast:CYCLIN	429	478	5e-8	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000126346
AA Change: D9E

SMART Domains

Protein: ENSMUSP00000116000
Gene: ENSMUSG00000029068
AA Change: D9E

Domain	Start	End	E-Value	Type
Blast:CYCLIN	2	52	2e-28	BLAST
SCOP:d1vin_1	29	59	9e-4	SMART
SCOP:d1jkw_2	62	87	8e-4	SMART
Blast:CYCLIN	65	87	5e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136370

Predicted Effect

probably benign
Transcript: ENSMUST00000137487

SMART Domains

Protein: ENSMUSP00000139122
Gene: ENSMUSG00000029066

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L20	10	116	1.3e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143503

Predicted Effect

probably benign
Transcript: ENSMUST00000185148

SMART Domains

Protein: ENSMUSP00000139169
Gene: ENSMUSG00000029066

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L20	10	79	1.5e-21	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.5%

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 cyclin family. Through its interaction with several proteins, such as RNA polymerase II, splicing factors, and cyclin-dependent kinases, this protein functions as a regulator of the pre-mRNA splicing process, as well as in inducing apoptosis by modulating the expression of apoptotic and antiapoptotic proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Actl11	A	G	9: 107,808,934 (GRCm39)	I1086V	possibly damaging	Het
Adgrv1	T	C	13: 81,726,853 (GRCm39)	S500G	probably benign	Het
Ahcyl1	A	T	3: 107,575,603 (GRCm39)	V394E	probably damaging	Het
Alg9	T	C	9: 50,720,005 (GRCm39)	F494L	probably damaging	Het
Ankrd55	C	A	13: 112,492,622 (GRCm39)	D264E	possibly damaging	Het
Asb14	A	G	14: 26,634,073 (GRCm39)	N426S	possibly damaging	Het
Atm	A	T	9: 53,435,807 (GRCm39)	F168I	probably benign	Het
Atp13a4	A	T	16: 29,290,822 (GRCm39)	I209N	probably damaging	Het
BB014433	A	T	8: 15,092,166 (GRCm39)	L229Q	probably benign	Het
Calml3	T	C	13: 3,854,142 (GRCm39)	D21G	probably damaging	Het
Capn10	A	G	1: 92,872,858 (GRCm39)	N528S	probably damaging	Het
Cd163	A	G	6: 124,296,106 (GRCm39)	I817V	probably benign	Het
Cgnl1	CTTGCCCAGGTT	CTT	9: 71,632,108 (GRCm39)		probably benign	Het
Cln6	T	A	9: 62,757,937 (GRCm39)	I232N	probably damaging	Het
Col22a1	A	C	15: 71,879,010 (GRCm39)	V49G	probably damaging	Het
Csmd1	A	T	8: 15,960,452 (GRCm39)	M3321K	probably damaging	Het
Cyp2u1	T	A	3: 131,091,933 (GRCm39)	M196L	probably benign	Het
Dlec1	T	G	9: 118,975,118 (GRCm39)	L1566R	probably damaging	Het
Dnajc3	A	G	14: 119,209,839 (GRCm39)	T305A	probably benign	Het
Drp2	G	A	X: 133,342,065 (GRCm39)	R567H	probably damaging	Homo
Efhd1	G	T	1: 87,192,280 (GRCm39)	G37W	possibly damaging	Het
Exph5	G	C	9: 53,286,910 (GRCm39)	E1330D	possibly damaging	Het
Fbln2	A	T	6: 91,242,992 (GRCm39)	Y913F	probably benign	Het
Fmnl1	G	A	11: 103,073,482 (GRCm39)	S167N	possibly damaging	Het
Frs3	A	G	17: 48,012,635 (GRCm39)	E114G	probably damaging	Het
Gmpr2	T	C	14: 55,914,252 (GRCm39)	I169T	probably damaging	Het
Gria2	A	G	3: 80,614,448 (GRCm39)	S531P	probably damaging	Het
Hace1	G	A	10: 45,526,046 (GRCm39)	A296T	probably benign	Het
Ift70a1	C	T	2: 75,810,266 (GRCm39)	G606S	probably benign	Het
Inhbb	A	C	1: 119,348,548 (GRCm39)	L90R	probably damaging	Het
Insr	C	T	8: 3,242,665 (GRCm39)	R18Q	probably null	Het
Kdm6b	G	T	11: 69,296,557 (GRCm39)	P570Q	probably damaging	Het
Lama3	T	C	18: 12,651,800 (GRCm39)	V1803A	probably benign	Het
Lpin3	T	A	2: 160,747,207 (GRCm39)	L811Q	probably damaging	Het
Lrrc8e	C	T	8: 4,285,166 (GRCm39)	L464F	probably damaging	Het
Micall2	A	G	5: 139,696,344 (GRCm39)	S729P	probably benign	Het
Naca	C	T	10: 127,878,298 (GRCm39)		probably benign	Het
Nav1	A	T	1: 135,393,709 (GRCm39)	S1010T	probably damaging	Het
Nefm	T	C	14: 68,358,570 (GRCm39)		probably benign	Het
Nlrp9c	A	T	7: 26,085,172 (GRCm39)	F136I	possibly damaging	Het
Nup210	A	T	6: 91,030,418 (GRCm39)	F137Y	probably benign	Het
Or1o3	A	G	17: 37,573,758 (GRCm39)	S266P	probably benign	Het
Or3a1c	A	G	11: 74,046,157 (GRCm39)	H59R	probably damaging	Het
Or8k32	T	C	2: 86,368,615 (GRCm39)	I215V	probably benign	Het
Otog	C	A	7: 45,948,030 (GRCm39)	H2344N	possibly damaging	Het
Otog	C	A	7: 45,954,934 (GRCm39)	C517*	probably null	Het
Pcdhac1	C	T	18: 37,225,580 (GRCm39)	Q798*	probably null	Het
Pdhx	T	C	2: 102,860,657 (GRCm39)	D330G	probably damaging	Het
Peg10	ACATCAGGATCC	ACATCAGGATCCCCATCAGGATCC	6: 4,756,454 (GRCm39)		probably benign	Het
Pgr	C	A	9: 8,900,914 (GRCm39)	P149Q	probably damaging	Het
Plaat1	G	A	16: 29,036,456 (GRCm39)	W31*	probably null	Het
Ppm1h	A	T	10: 122,777,245 (GRCm39)	I504F	probably damaging	Het
Ppp6r3	A	G	19: 3,523,833 (GRCm39)	S556P	probably damaging	Het
Ranbp9	G	A	13: 43,578,570 (GRCm39)	Q168*	probably null	Het
Relb	A	T	7: 19,349,528 (GRCm39)	L259Q	probably benign	Het
Rfx5	G	A	3: 94,863,126 (GRCm39)	V73I	probably benign	Het
Rgcc	T	C	14: 79,527,716 (GRCm39)	D125G	possibly damaging	Het
Rmnd5b	A	G	11: 51,518,735 (GRCm39)	V86A	probably damaging	Het
Slc15a5	G	A	6: 138,020,583 (GRCm39)	T250M	probably damaging	Het
Slc7a2	A	T	8: 41,365,599 (GRCm39)	K477*	probably null	Het
Slx9	A	T	10: 77,351,367 (GRCm39)	W14R	probably null	Het
Smc2	T	A	4: 52,461,042 (GRCm39)		probably null	Het
Sox5	A	T	6: 143,974,070 (GRCm39)	L226*	probably null	Het
Sp140l2	G	T	1: 85,224,815 (GRCm39)	A240E	probably benign	Het
Syne2	A	G	12: 75,990,724 (GRCm39)	E1903G	possibly damaging	Het
Tenm3	A	T	8: 48,688,861 (GRCm39)	I2226N	probably damaging	Het
Tmtc3	A	T	10: 100,283,086 (GRCm39)	I823N	probably damaging	Het
Top6bl	T	A	19: 4,676,112 (GRCm39)	K673N	probably benign	Het
Tor3a	T	C	1: 156,483,342 (GRCm39)	Y360C	probably damaging	Het
Trpc3	T	C	3: 36,716,967 (GRCm39)	E357G	probably benign	Het
Tubgcp6	A	T	15: 88,987,693 (GRCm39)	N1093K	possibly damaging	Het
Vmn1r64	T	A	7: 5,887,052 (GRCm39)	T164S	probably benign	Het
Vmn2r40	T	A	7: 8,911,166 (GRCm39)	Q709L	probably damaging	Het
Vmn2r81	A	T	10: 79,129,247 (GRCm39)	I713L	probably benign	Het
Washc5	T	C	15: 59,205,484 (GRCm39)	T686A	probably benign	Het
Wipf1	GCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCC	2: 73,270,418 (GRCm39)		probably benign	Het

Other mutations in Ccnl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:Ccnl2	APN	4	155,905,337 (GRCm39)	missense	probably damaging	1.00
IGL01936:Ccnl2	APN	4	155,904,856 (GRCm39)	missense	probably damaging	1.00
IGL02029:Ccnl2	APN	4	155,906,319 (GRCm39)	missense	probably benign	0.05
IGL03244:Ccnl2	APN	4	155,905,479 (GRCm39)	missense	probably benign	0.20
R2069:Ccnl2	UTSW	4	155,896,938 (GRCm39)	splice site	probably null
R7206:Ccnl2	UTSW	4	155,905,431 (GRCm39)	missense	possibly damaging	0.66
R8304:Ccnl2	UTSW	4	155,897,679 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- TAGAGGCCTGTCTGTCTCTG -3'
(R):5'- GAGCTGATGTGGTCATACAGG -3'

Sequencing Primer
(F):5'- GAGGCCTGTCTGTCTCTGTATCTTC -3'
(R):5'- GGTCATACAGGAATTGTTTCAGCAG -3'

Posted On

2016-05-10