Mutagenetix > Incidental Mutation

Incidental Mutation 'R2422:Celf2'

249344

Institutional Source

Beutler Lab

Gene Symbol

Celf2

Ensembl Gene

ENSMUSG00000002107

Gene Name

CUGBP, Elav-like family member 2

Synonyms

Napor-2, ETR-3, B230345P09Rik, Cugbp2

MMRRC Submission

040384-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.445) question?

Stock #

R2422 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6539694-7509563 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 6553889 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 364 (T364I)

Ref Sequence

ENSEMBL: ENSMUSP00000138297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002176] [ENSMUST00000100429] [ENSMUST00000114924] [ENSMUST00000114927] [ENSMUST00000114934] [ENSMUST00000142941] [ENSMUST00000150624] [ENSMUST00000170438] [ENSMUST00000182404] [ENSMUST00000182706] [ENSMUST00000182851] [ENSMUST00000182879] [ENSMUST00000183091] [ENSMUST00000183209] [ENSMUST00000183984]

AlphaFold

Q9Z0H4

Predicted Effect

probably damaging
Transcript: ENSMUST00000002176
AA Change: T360I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002176
Gene: ENSMUSG00000002107
AA Change: T360I

Domain	Start	End	E-Value	Type
RRM	17	95	1.29e-17	SMART
RRM	109	184	4.22e-22	SMART
low complexity region	194	223	N/A	INTRINSIC
low complexity region	252	279	N/A	INTRINSIC
low complexity region	281	293	N/A	INTRINSIC
low complexity region	326	355	N/A	INTRINSIC
low complexity region	379	392	N/A	INTRINSIC
RRM	400	473	3.2e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000100429
AA Change: T360I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097996
Gene: ENSMUSG00000002107
AA Change: T360I

Domain	Start	End	E-Value	Type
RRM	17	95	1.29e-17	SMART
RRM	109	184	4.22e-22	SMART
low complexity region	194	223	N/A	INTRINSIC
low complexity region	252	279	N/A	INTRINSIC
low complexity region	281	293	N/A	INTRINSIC
low complexity region	341	362	N/A	INTRINSIC
low complexity region	385	398	N/A	INTRINSIC
RRM	406	479	3.2e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114924
AA Change: T402I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110574
Gene: ENSMUSG00000002107
AA Change: T402I

Domain	Start	End	E-Value	Type
RRM	59	137	1.29e-17	SMART
RRM	151	226	4.22e-22	SMART
low complexity region	236	265	N/A	INTRINSIC
low complexity region	294	321	N/A	INTRINSIC
low complexity region	323	335	N/A	INTRINSIC
low complexity region	368	397	N/A	INTRINSIC
low complexity region	421	434	N/A	INTRINSIC
RRM	442	515	3.2e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114927
AA Change: T364I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110577
Gene: ENSMUSG00000002107
AA Change: T364I

Domain	Start	End	E-Value	Type
RRM	17	95	1.29e-17	SMART
RRM	109	184	4.22e-22	SMART
low complexity region	194	223	N/A	INTRINSIC
low complexity region	252	279	N/A	INTRINSIC
low complexity region	281	293	N/A	INTRINSIC
low complexity region	341	359	N/A	INTRINSIC
low complexity region	383	396	N/A	INTRINSIC
RRM	404	477	3.2e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114934
AA Change: T402I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110584
Gene: ENSMUSG00000002107
AA Change: T402I

Domain	Start	End	E-Value	Type
RRM	59	137	1.29e-17	SMART
RRM	151	226	4.22e-22	SMART
low complexity region	236	265	N/A	INTRINSIC
low complexity region	294	321	N/A	INTRINSIC
low complexity region	323	335	N/A	INTRINSIC
low complexity region	368	397	N/A	INTRINSIC
low complexity region	421	434	N/A	INTRINSIC
RRM	442	515	3.2e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142941
AA Change: T366I

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000120459
Gene: ENSMUSG00000002107
AA Change: T366I

Domain	Start	End	E-Value	Type
RRM	17	95	1.29e-17	SMART
RRM	109	184	4.22e-22	SMART
low complexity region	194	223	N/A	INTRINSIC
low complexity region	252	279	N/A	INTRINSIC
low complexity region	281	293	N/A	INTRINSIC
low complexity region	341	362	N/A	INTRINSIC
low complexity region	385	398	N/A	INTRINSIC
RRM	406	479	3.2e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000150624
AA Change: T364I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138297
Gene: ENSMUSG00000002107
AA Change: T364I

Domain	Start	End	E-Value	Type
RRM	17	95	1.29e-17	SMART
RRM	109	184	4.22e-22	SMART
low complexity region	194	223	N/A	INTRINSIC
low complexity region	252	279	N/A	INTRINSIC
low complexity region	281	293	N/A	INTRINSIC
low complexity region	341	359	N/A	INTRINSIC
low complexity region	383	396	N/A	INTRINSIC
RRM	404	477	3.2e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000170438
AA Change: T402I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130829
Gene: ENSMUSG00000002107
AA Change: T402I

Domain	Start	End	E-Value	Type
RRM	59	137	1.29e-17	SMART
RRM	151	226	4.22e-22	SMART
low complexity region	236	265	N/A	INTRINSIC
low complexity region	294	321	N/A	INTRINSIC
low complexity region	323	335	N/A	INTRINSIC
RRM	384	467	4.92e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182355

Predicted Effect

silent
Transcript: ENSMUST00000182404

SMART Domains

Protein: ENSMUSP00000138769
Gene: ENSMUSG00000002107

Domain	Start	End	E-Value	Type
RRM	22	97	4.22e-22	SMART
low complexity region	107	136	N/A	INTRINSIC
low complexity region	165	192	N/A	INTRINSIC
low complexity region	194	206	N/A	INTRINSIC
low complexity region	254	272	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000182706
AA Change: T396I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138764
Gene: ENSMUSG00000002107
AA Change: T396I

Domain	Start	End	E-Value	Type
RRM	53	131	1.29e-17	SMART
RRM	145	220	4.22e-22	SMART
low complexity region	230	259	N/A	INTRINSIC
low complexity region	288	315	N/A	INTRINSIC
low complexity region	317	329	N/A	INTRINSIC
low complexity region	362	391	N/A	INTRINSIC
low complexity region	415	428	N/A	INTRINSIC
RRM	436	509	3.2e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000182851
AA Change: T384I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138363
Gene: ENSMUSG00000002107
AA Change: T384I

Domain	Start	End	E-Value	Type
RRM	41	119	1.29e-17	SMART
RRM	133	208	4.22e-22	SMART
low complexity region	218	247	N/A	INTRINSIC
low complexity region	276	303	N/A	INTRINSIC
low complexity region	305	317	N/A	INTRINSIC
low complexity region	350	379	N/A	INTRINSIC
low complexity region	403	416	N/A	INTRINSIC
RRM	424	497	3.2e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000182879
AA Change: T364I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138359
Gene: ENSMUSG00000002107
AA Change: T364I

Domain	Start	End	E-Value	Type
RRM	17	95	1.29e-17	SMART
RRM	109	184	4.22e-22	SMART
low complexity region	194	223	N/A	INTRINSIC
low complexity region	252	279	N/A	INTRINSIC
low complexity region	281	293	N/A	INTRINSIC
RRM	346	429	4.92e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000183091
AA Change: T384I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138795
Gene: ENSMUSG00000002107
AA Change: T384I

Domain	Start	End	E-Value	Type
RRM	41	119	1.29e-17	SMART
RRM	133	208	4.22e-22	SMART
low complexity region	218	247	N/A	INTRINSIC
low complexity region	276	303	N/A	INTRINSIC
low complexity region	305	317	N/A	INTRINSIC
RRM	366	449	4.92e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000183209
AA Change: T396I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138355
Gene: ENSMUSG00000002107
AA Change: T396I

Domain	Start	End	E-Value	Type
RRM	53	131	1.29e-17	SMART
RRM	145	220	4.22e-22	SMART
low complexity region	230	259	N/A	INTRINSIC
low complexity region	288	315	N/A	INTRINSIC
low complexity region	317	329	N/A	INTRINSIC
RRM	378	461	4.92e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183984

SMART Domains

Protein: ENSMUSP00000138974
Gene: ENSMUSG00000002107

Domain	Start	End	E-Value	Type
low complexity region	2	54	N/A	INTRINSIC
RRM	104	182	1.29e-17	SMART
RRM	196	271	4.22e-22	SMART
low complexity region	281	310	N/A	INTRINSIC
low complexity region	339	366	N/A	INTRINSIC
low complexity region	368	380	N/A	INTRINSIC

Meta Mutation Damage Score

0.0772

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	A	1: 37,613,475	V1084L	probably benign	Het
4933409G03Rik	A	T	2: 68,591,520	N47I	probably benign	Het
Actr5	T	C	2: 158,636,081	F457S	probably damaging	Het
Adamts3	A	G	5: 89,683,175	S1007P	probably damaging	Het
Adck2	C	T	6: 39,583,998	A440V	possibly damaging	Het
Birc6	T	A	17: 74,660,614	L301Q	probably damaging	Het
Ccdc18	A	C	5: 108,228,588	E1298D	probably damaging	Het
Ccdc77	A	G	6: 120,339,159	C186R	probably benign	Het
Cdk12	T	G	11: 98,219,074	S640R	probably benign	Het
Cdv3	T	C	9: 103,365,118		probably benign	Het
Cmtr2	C	A	8: 110,222,781	S574R	probably benign	Het
Col14a1	T	C	15: 55,449,922	L56P	unknown	Het
Dctn1	C	T	6: 83,199,800	L1241F	possibly damaging	Het
Depdc5	T	C	5: 32,991,035	F1505S	probably damaging	Het
Dhcr24	G	T	4: 106,561,094		probably benign	Het
Dnajc21	A	G	15: 10,461,935	S127P	probably benign	Het
Entpd7	A	T	19: 43,728,088	Y507F	possibly damaging	Het
Fbp1	T	C	13: 62,871,306	K24E	probably benign	Het
Galr1	A	T	18: 82,405,923	N76K	probably damaging	Het
Glrb	A	G	3: 80,860,235	I226T	probably damaging	Het
Gm17421	T	A	12: 113,369,487		noncoding transcript	Het
Gm4950	T	A	18: 51,865,784	Q33L	probably benign	Het
Gm5415	C	T	1: 32,545,861	A323T	possibly damaging	Het
Gm6583	A	T	5: 112,355,118	V240D	probably damaging	Het
Gnat2	A	T	3: 108,095,539	M88L	probably damaging	Het
Gpr183	A	G	14: 121,954,177	Y311H	probably damaging	Het
H2-M10.5	A	G	17: 36,774,999	I308V	probably benign	Het
Hipk3	C	T	2: 104,471,485	G121R	probably benign	Het
Hjurp	A	G	1: 88,266,561		probably benign	Het
Homez	C	A	14: 54,857,574	V226F	probably benign	Het
Inf2	C	A	12: 112,610,824	A1034D	unknown	Het
Kcnc4	G	T	3: 107,445,547	P572T	probably benign	Het
Kmt2d	T	C	15: 98,862,266	E1037G	unknown	Het
Krt78	T	C	15: 101,947,264	E704G	probably damaging	Het
Lama1	A	T	17: 67,750,553	M541L	probably benign	Het
Lmbrd2	C	T	15: 9,194,765	T618M	possibly damaging	Het
Ly6g6e	G	A	17: 35,078,146	R121Q	probably benign	Het
Mettl22	T	C	16: 8,487,361	F293L	probably damaging	Het
Mib1	T	C	18: 10,751,906	S263P	probably damaging	Het
Ndufaf1	T	C	2: 119,655,737	E298G	probably damaging	Het
Nek1	T	C	8: 61,019,901	V152A	probably damaging	Het
Nlrp4d	T	A	7: 10,362,945	D876V	probably benign	Het
Olfr178	T	C	16: 58,889,965	E85G	probably benign	Het
Olfr235	A	T	19: 12,268,919	T230S	probably damaging	Het
Olfr740	T	C	14: 50,453,436	L128P	probably damaging	Het
Olfr975	A	G	9: 39,950,528	L81P	possibly damaging	Het
Pcdha11	G	T	18: 37,007,272	L651F	probably damaging	Het
Plekhg1	G	A	10: 3,958,048	M988I	probably benign	Het
Plxnb1	G	A	9: 109,108,438	R1169H	probably benign	Het
Ppp4r3a	A	G	12: 101,042,653		probably benign	Het
Pum2	A	T	12: 8,748,931	Q930L	possibly damaging	Het
Rbp4	T	C	19: 38,124,344	E67G	probably damaging	Het
Rgs9	C	A	11: 109,225,777		probably null	Het
Sipa1	A	T	19: 5,652,112	D923E	possibly damaging	Het
Smc1a	A	G	X: 152,047,975		probably benign	Het
Snx33	C	A	9: 56,918,538	M546I	probably benign	Het
Spag17	T	A	3: 100,027,619	W714R	probably benign	Het
Spata2	C	T	2: 167,484,206	R231Q	probably damaging	Het
Stard9	C	T	2: 120,700,284	R2341C	probably benign	Het
Tas2r116	A	T	6: 132,855,594	I53F	possibly damaging	Het
Tlk1	T	C	2: 70,770,005	E110G	probably damaging	Het
Tmem102	T	A	11: 69,804,537	E203V	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,562		probably benign	Het
Ttc23l	G	A	15: 10,537,566	S206L	probably benign	Het
Tyw5	A	G	1: 57,396,748	I82T	possibly damaging	Het
Uba6	A	G	5: 86,132,616		probably null	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc13c	T	C	9: 73,931,547	Y674C	probably damaging	Het
Vmn2r105	T	A	17: 20,227,835	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,086,532	Y605H	probably benign	Het
Wdr77	A	T	3: 105,960,021	K62*	probably null	Het
Zfhx4	C	A	3: 5,390,405	A1153E	probably benign	Het
Zfp266	C	A	9: 20,499,262	V540L	possibly damaging	Het
Zfp638	C	A	6: 83,966,439		probably benign	Het
Zfp644	A	G	5: 106,637,244	M479T	possibly damaging	Het
Zfp951	G	A	5: 104,815,277	T141I	probably benign	Het

Other mutations in Celf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00925:Celf2	APN	2	6721577	missense	probably benign	0.00
IGL01974:Celf2	APN	2	6604031	missense	probably damaging	1.00
IGL02159:Celf2	APN	2	6604177	nonsense	probably null
LCD18:Celf2	UTSW	2	6779076	intron	probably benign
R0113:Celf2	UTSW	2	6624714	missense	probably damaging	1.00
R0511:Celf2	UTSW	2	6604176	missense	probably damaging	1.00
R0711:Celf2	UTSW	2	6721415	critical splice donor site	probably null
R1755:Celf2	UTSW	2	6884958	start codon destroyed	probably benign	0.01
R1802:Celf2	UTSW	2	6549933	missense	probably damaging	1.00
R1898:Celf2	UTSW	2	6604164	missense	probably damaging	1.00
R1912:Celf2	UTSW	2	6615753	missense	probably damaging	1.00
R2848:Celf2	UTSW	2	6604125	missense	probably damaging	0.96
R2849:Celf2	UTSW	2	6604125	missense	probably damaging	0.96
R3708:Celf2	UTSW	2	6624678	missense	probably damaging	1.00
R4295:Celf2	UTSW	2	6604064	missense	probably benign	0.10
R4601:Celf2	UTSW	2	6586020	missense	possibly damaging	0.87
R4602:Celf2	UTSW	2	6586020	missense	possibly damaging	0.87
R4610:Celf2	UTSW	2	6586020	missense	possibly damaging	0.87
R4611:Celf2	UTSW	2	6586020	missense	possibly damaging	0.87
R4667:Celf2	UTSW	2	6721528	missense	probably benign	0.44
R4668:Celf2	UTSW	2	6721528	missense	probably benign	0.44
R4669:Celf2	UTSW	2	6721528	missense	probably benign	0.44
R4790:Celf2	UTSW	2	6549903	missense	probably damaging	1.00
R5022:Celf2	UTSW	2	6607847	intron	probably benign
R5369:Celf2	UTSW	2	7081081	intron	probably benign
R5540:Celf2	UTSW	2	6553932	missense	probably benign	0.43
R5805:Celf2	UTSW	2	6553787	missense	probably damaging	1.00
R5913:Celf2	UTSW	2	7081158	start codon destroyed	probably null	0.02
R6330:Celf2	UTSW	2	6884955	missense	probably benign	0.05
R7505:Celf2	UTSW	2	6624700	missense	probably damaging	1.00
R7662:Celf2	UTSW	2	6553917	missense	probably damaging	1.00
R8316:Celf2	UTSW	2	6547103	missense	probably benign	0.03
R8437:Celf2	UTSW	2	6547145	missense	probably damaging	1.00
R8860:Celf2	UTSW	2	6560657	critical splice donor site	probably null
R9170:Celf2	UTSW	2	6549835	missense	possibly damaging	0.75
R9373:Celf2	UTSW	2	6547104	missense	probably benign	0.24
R9374:Celf2	UTSW	2	6586075	missense	possibly damaging	0.95
R9382:Celf2	UTSW	2	6721593	missense	probably damaging	1.00
R9623:Celf2	UTSW	2	6615711	missense	probably damaging	1.00
R9626:Celf2	UTSW	2	6586024	missense	probably benign	0.33
R9718:Celf2	UTSW	2	6721538	missense	probably damaging	1.00
X0018:Celf2	UTSW	2	6553913	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTCAAATCACCATCTTTCAGGC -3'
(R):5'- GTGTGAGCTGCATGCACTTG -3'

Sequencing Primer
(F):5'- CCATCTTTCAGGCATGGTCTAAAGG -3'
(R):5'- GCATGCACTTGCTGTTGTAC -3'

Posted On

2014-11-12