Mutagenetix > Incidental Mutation

Incidental Mutation 'R5386:Pcbp1'

425212

Institutional Source

Beutler Lab

Gene Symbol

Pcbp1

Ensembl Gene

ENSMUSG00000051695

Gene Name

poly(rC) binding protein 1

Synonyms

hnRNP E1, WBP17, [a]CP-1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R5386 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

86524492-86526321 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86525489 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 143 (E143K)

Ref Sequence

ENSEMBL: ENSMUSP00000054863 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053015]

AlphaFold

P60335

Predicted Effect

probably damaging
Transcript: ENSMUST00000053015
AA Change: E143K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000054863
Gene: ENSMUSG00000051695
AA Change: E143K

Domain	Start	End	E-Value	Type
KH	12	80	3.99e-16	SMART
KH	96	167	2.39e-14	SMART
KH	278	348	1.34e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181928

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204047

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204068

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205028

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene is thought to have been generated by retrotransposition of a fully processed PCBP-2 mRNA. This gene and PCBP-2 have paralogues (PCBP3 and PCBP4) which are thought to have arisen as a result of duplication events of entire genes. The protein encoded by this gene appears to be multifunctional. It along with PCBP-2 and hnRNPK corresponds to the major cellular poly(rC)-binding protein. It contains three K-homologous (KH) domains which may be involved in RNA binding. This encoded protein together with PCBP-2 also functions as translational coactivators of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES and promote poliovirus RNA replication by binding to its 5'-terminal cloverleaf structure. It has also been implicated in translational control of the 15-lipoxygenase mRNA, human Papillomavirus type 16 L2 mRNA, and hepatitis A virus RNA. The encoded protein is also suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin mRNA stability. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for a knock-out allele exhibit reduced body weight. Mice homozygous for the allele exhibit embryonic lethality between E3.5 and E8.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 134 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	A	15: 8,194,413	G887R	probably damaging	Het
4931406P16Rik	A	G	7: 34,242,388	F120L	probably damaging	Het
Abcc12	T	G	8: 86,517,489	K1012Q	possibly damaging	Het
Afmid	G	A	11: 117,828,142	G33R	probably benign	Het
Agbl3	G	T	6: 34,799,196	W207C	probably damaging	Het
Ajuba	T	C	14: 54,570,398	Y459C	probably damaging	Het
Ak2	T	C	4: 129,008,172	S213P	probably benign	Het
Alk	T	A	17: 71,875,012	N1339Y	probably damaging	Het
Angpt1	T	C	15: 42,438,365	S416G	probably damaging	Het
Ank2	C	T	3: 126,981,933	V854M	probably benign	Het
Ankrd61	G	T	5: 143,891,664	N122K	possibly damaging	Het
Armc9	T	A	1: 86,198,289	L34Q	probably null	Het
Aspg	T	A	12: 112,123,032	V418E	probably benign	Het
Baz1b	C	T	5: 135,238,059	R1241C	probably damaging	Het
Bclaf1	T	C	10: 20,325,592	V201A	possibly damaging	Het
C1ql3	A	T	2: 13,004,358	D225E	probably damaging	Het
Capn9	A	G	8: 124,605,540	T417A	possibly damaging	Het
Card14	C	T	11: 119,317,289	R62C	probably damaging	Het
Cc2d2a	A	G	5: 43,730,041	N1271S	probably benign	Het
Ccpg1	G	A	9: 73,013,044	S647N	probably benign	Het
Cdv3	T	C	9: 103,355,230	K133R	possibly damaging	Het
Cep128	A	C	12: 90,999,571	S1087R	probably benign	Het
Cep70	T	A	9: 99,281,075	L325Q	probably damaging	Het
Chit1	T	G	1: 134,149,454	F332V	probably damaging	Het
Chodl	C	A	16: 78,946,697	T219K	probably damaging	Het
Cntn4	T	C	6: 106,181,804	L10P	possibly damaging	Het
Copg1	G	T	6: 87,890,207	M87I	possibly damaging	Het
Cyp3a59	A	G	5: 146,085,768	Y28C	probably benign	Het
Dchs1	A	C	7: 105,758,029	V2119G	probably damaging	Het
Dedd	T	C	1: 171,338,383	L23P	probably damaging	Het
Dmxl2	A	G	9: 54,378,757	S2715P	probably benign	Het
Dnah9	T	C	11: 66,029,356	N2237S	probably damaging	Het
Drosha	A	G	15: 12,842,121	I337V	probably benign	Het
Duox2	A	G	2: 122,295,136	V330A	probably benign	Het
Dusp11	T	C	6: 85,947,605	*322W	probably null	Het
Dusp8	T	A	7: 142,089,993	Q61L	possibly damaging	Het
Ears2	G	C	7: 122,044,377	T426S	probably benign	Het
Elmo1	T	C	13: 20,600,210	Y646H	probably benign	Het
Eps15	T	A	4: 109,321,225	I220K	possibly damaging	Het
Faap100	T	A	11: 120,377,632	E105V	possibly damaging	Het
Fam171a2	C	A	11: 102,437,867	V689L	possibly damaging	Het
Fam213b	T	A	4: 154,899,005	M1L	probably benign	Het
Fam91a1	G	A	15: 58,448,394	S645N	probably benign	Het
Fancg	G	A	4: 43,007,076	Q234*	probably null	Het
Gid4	T	A	11: 60,432,442		probably null	Het
Gm14085	C	A	2: 122,522,778	L480I	probably benign	Het
Gm7361	A	C	5: 26,258,905	T53P	probably benign	Het
Golgb1	T	A	16: 36,912,315	C641*	probably null	Het
Gon4l	T	A	3: 88,858,496	M409K	probably benign	Het
Gpatch8	A	T	11: 102,508,227		probably null	Het
Gpr156	T	A	16: 37,948,309	V64E	possibly damaging	Het
Grid2	T	A	6: 63,931,105	I243K	probably damaging	Het
Gucy2g	G	A	19: 55,215,116	A750V	probably damaging	Het
Hdac5	T	C	11: 102,202,141	E590G	possibly damaging	Het
Herc3	T	A	6: 58,874,278	M504K	probably damaging	Het
Hif1a	A	G	12: 73,944,093	E713G	probably benign	Het
Hmx3	A	G	7: 131,544,304	D247G	probably damaging	Het
Hoxd11	G	T	2: 74,682,819	E143*	probably null	Het
Ifitm3	T	C	7: 141,010,641	N2S	probably benign	Het
Il17f	T	C	1: 20,777,957	Q99R	probably benign	Het
Itga6	T	A	2: 71,841,150	S341R	probably damaging	Het
Itgam	A	G	7: 128,107,980	N661S	probably benign	Het
Jag1	A	T	2: 137,095,544	H303Q	possibly damaging	Het
Kcnh8	T	A	17: 52,725,995	N103K	probably benign	Het
Kdm6b	T	C	11: 69,400,810		probably benign	Het
Keg1	A	C	19: 12,714,538	N63T	probably damaging	Het
Klf12	T	A	14: 99,900,159	H317L	probably damaging	Het
Lrp1	A	T	10: 127,592,114	V530E	probably damaging	Het
Mrgpra6	A	G	7: 47,188,881	C190R	probably damaging	Het
Myo1a	G	T	10: 127,705,897	E102*	probably null	Het
Napa	A	T	7: 16,116,472	E265D	probably benign	Het
Ncam1	A	C	9: 49,564,874	V305G	probably damaging	Het
Nek8	T	C	11: 78,170,437		probably null	Het
Olfr1115	C	T	2: 87,252,483	P182L	probably benign	Het
Olfr1242	G	T	2: 89,494,137	Y58*	probably null	Het
Olfr1275	T	C	2: 111,231,194	T200A	probably benign	Het
Olfr191	T	A	16: 59,085,890	M198L	probably benign	Het
Olfr243	T	C	7: 103,717,355	F254L	probably benign	Het
Olfr251	A	T	9: 38,377,985	I29F	probably benign	Het
Olfr739	T	A	14: 50,425,389	V290E	possibly damaging	Het
Olfr971	A	G	9: 39,839,830	Y132C	possibly damaging	Het
Olfr987	T	C	2: 85,331,635	T88A	probably benign	Het
Pabpc4	A	G	4: 123,294,997	Q417R	probably benign	Het
Panx3	A	T	9: 37,669,024	M11K	probably damaging	Het
Pdcd7	G	A	9: 65,358,692	W477*	probably null	Het
Pi4k2a	G	A	19: 42,090,515	S5N	probably damaging	Het
Plag1	T	A	4: 3,904,075	Q372L	probably benign	Het
Plce1	C	A	19: 38,760,091	N1755K	probably damaging	Het
Pld4	G	T	12: 112,763,988	E102*	probably null	Het
Pnlip	A	G	19: 58,679,607	N345S	probably benign	Het
Ppm1e	A	T	11: 87,358,551	L118Q	possibly damaging	Het
Prkra	T	G	2: 76,639,278	T146P	probably damaging	Het
Prpf8	A	G	11: 75,495,799	D1038G	probably damaging	Het
Prss51	T	A	14: 64,097,094	V108E	probably damaging	Het
Ptch1	A	G	13: 63,545,043	Y181H	probably damaging	Het
Reln	A	G	5: 22,039,529	V817A	probably benign	Het
Rictor	C	A	15: 6,789,504	Q1403K	probably benign	Het
Rims1	T	A	1: 22,412,245	I882F	probably damaging	Het
Rnf19a	A	G	15: 36,242,039	V618A	probably benign	Het
Ryr1	A	T	7: 29,117,416	I65N	probably damaging	Het
S1pr2	T	C	9: 20,967,594	T313A	probably benign	Het
Serpine2	A	T	1: 79,821,287	Y83*	probably null	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384		probably benign	Het
Sgip1	T	C	4: 102,915,059	V215A	probably benign	Het
Sgsm3	T	C	15: 81,007,999	V256A	probably benign	Het
Shroom4	T	A	X: 6,585,469	C894*	probably null	Het
Slc14a2	T	A	18: 78,185,840	D306V	possibly damaging	Het
Slc4a10	A	T	2: 62,290,058	E843V	probably damaging	Het
Smyd4	T	A	11: 75,390,156	C152S	probably damaging	Het
Snx10	T	C	6: 51,575,972	Y32H	probably damaging	Het
Sorl1	T	C	9: 42,057,284	T558A	possibly damaging	Het
Spata31d1b	G	A	13: 59,719,052	C1338Y	possibly damaging	Het
Sppl2c	T	A	11: 104,187,301	I309K	possibly damaging	Het
Stard9	A	G	2: 120,700,630	E2456G	probably damaging	Het
Stx1b	A	T	7: 127,815,403	D16E	probably benign	Het
Tecpr2	T	C	12: 110,915,453	V152A	probably damaging	Het
Tedc1	T	C	12: 113,156,682	V47A	probably benign	Het
Tep1	A	T	14: 50,868,317	L82Q	probably damaging	Het
Tgm4	A	G	9: 123,056,494	Y367C	probably damaging	Het
Tle1	C	T	4: 72,141,844	V258M	probably damaging	Het
Tm9sf1	C	T	14: 55,642,844	G32D	possibly damaging	Het
Tmco2	A	G	4: 121,105,984	L106P	probably damaging	Het
Tmem131	A	T	1: 36,872,558	C103S	possibly damaging	Het
Tmprss7	T	A	16: 45,669,528	I444F	possibly damaging	Het
Trank1	T	C	9: 111,362,402	V493A	probably benign	Het
Trim80	A	T	11: 115,448,017	T558S	probably benign	Het
Trmt6	C	A	2: 132,808,783	A302S	probably benign	Het
Ttc17	A	T	2: 94,303,640	W1067R	probably damaging	Het
Tulp4	T	A	17: 6,236,293	V1532D	probably damaging	Het
Ubqlnl	T	G	7: 104,149,217	I358L	probably benign	Het
Ulk3	T	A	9: 57,590,740	I108N	possibly damaging	Het
Vps13b	A	T	15: 35,640,528		probably null	Het
Vwa3a	A	G	7: 120,790,142	K68E	possibly damaging	Het
Zfp746	G	T	6: 48,064,176	H538N	possibly damaging	Het

Other mutations in Pcbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01417:Pcbp1	APN	6	86525854	missense	probably damaging	0.96
R2968:Pcbp1	UTSW	6	86525489	missense	probably damaging	1.00
R3148:Pcbp1	UTSW	6	86525489	missense	probably damaging	1.00
R4522:Pcbp1	UTSW	6	86525050	missense	probably benign	0.01
R5119:Pcbp1	UTSW	6	86524915	missense	probably damaging	1.00
R5225:Pcbp1	UTSW	6	86525227	missense	probably damaging	0.96
R5698:Pcbp1	UTSW	6	86525152	missense	possibly damaging	0.93
R7135:Pcbp1	UTSW	6	86525506	missense	possibly damaging	0.80
R7329:Pcbp1	UTSW	6	86525116	missense	probably benign	0.01
R9573:Pcbp1	UTSW	6	86525695	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- TTGAATCGAGTAGGCGTCTAGAGG -3'
(R):5'- TCCATGACCAACAGTACGGC -3'

Sequencing Primer
(F):5'- TAGGCGTCTAGAGGTGGTCCC -3'
(R):5'- AACAGTACGGCGGCCAG -3'

Posted On

2016-08-04