Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02966:Pcbp2'

365616

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcbp2

Ensembl Gene

ENSMUSG00000056851

Gene Name

poly(rC) binding protein 2

Synonyms

alphaCP-2, Hnrpx

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

IGL02966

Quality Score

Status

Chromosome

Chromosomal Location

102378974-102408496 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 102392684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155548 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077037] [ENSMUST00000078404] [ENSMUST00000108838] [ENSMUST00000229061] [ENSMUST00000229102] [ENSMUST00000229222] [ENSMUST00000229958] [ENSMUST00000229918] [ENSMUST00000229746] [ENSMUST00000230114] [ENSMUST00000229618] [ENSMUST00000229184] [ENSMUST00000229802] [ENSMUST00000229854] [ENSMUST00000231089] [ENSMUST00000231085] [ENSMUST00000230211] [ENSMUST00000230577] [ENSMUST00000230918] [ENSMUST00000230539] [ENSMUST00000230728]

AlphaFold

Q61990

Predicted Effect

probably benign
Transcript: ENSMUST00000077037

SMART Domains

Protein: ENSMUSP00000076294
Gene: ENSMUSG00000056851

Domain	Start	End	E-Value	Type
KH	12	80	5.96e-15	SMART
KH	96	167	2.48e-12	SMART
KH	283	353	5.19e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000078404

SMART Domains

Protein: ENSMUSP00000077509
Gene: ENSMUSG00000056851

Domain	Start	End	E-Value	Type
KH	12	80	5.96e-15	SMART
KH	96	167	2.48e-12	SMART
KH	270	340	5.19e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108838

SMART Domains

Protein: ENSMUSP00000104466
Gene: ENSMUSG00000056851

Domain	Start	End	E-Value	Type
KH	12	80	5.96e-15	SMART
KH	96	167	2.48e-12	SMART
KH	252	322	5.19e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181328

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184881

Predicted Effect

probably benign
Transcript: ENSMUST00000229061

Predicted Effect

probably benign
Transcript: ENSMUST00000229102

Predicted Effect

probably benign
Transcript: ENSMUST00000229432

Predicted Effect

probably benign
Transcript: ENSMUST00000229222

Predicted Effect

probably benign
Transcript: ENSMUST00000229958

Predicted Effect

probably benign
Transcript: ENSMUST00000229533

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230129

Predicted Effect

probably benign
Transcript: ENSMUST00000229918

Predicted Effect

probably benign
Transcript: ENSMUST00000229746

Predicted Effect

probably benign
Transcript: ENSMUST00000229219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229822

Predicted Effect

probably benign
Transcript: ENSMUST00000230114

Predicted Effect

probably benign
Transcript: ENSMUST00000229618

Predicted Effect

probably benign
Transcript: ENSMUST00000229184

Predicted Effect

probably benign
Transcript: ENSMUST00000229802

Predicted Effect

probably benign
Transcript: ENSMUST00000229854

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230997

Predicted Effect

probably benign
Transcript: ENSMUST00000231089

Predicted Effect

probably benign
Transcript: ENSMUST00000231085

Predicted Effect

probably benign
Transcript: ENSMUST00000230211

Predicted Effect

probably benign
Transcript: ENSMUST00000230577

Predicted Effect

probably benign
Transcript: ENSMUST00000230918

Predicted Effect

probably benign
Transcript: ENSMUST00000230682

Predicted Effect

probably benign
Transcript: ENSMUST00000230539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230282

Predicted Effect

probably benign
Transcript: ENSMUST00000230728

Coding Region Coverage

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 appears to be multifunctional. Along with PCBP-1 and hnRNPK, it is one of the major cellular poly(rC)-binding proteins. The encoded protein contains three K-homologous (KH) domains which may be involved in RNA binding. Together with PCBP-1, this protein also functions as a translational coactivator of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES, promoting 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. This multiexon structural mRNA is thought to be retrotransposed to generate PCBP-1, an intronless gene with functions similar to that of PCBP2. This gene and PCBP-1 have paralogous genes (PCBP3 and PCBP4) which are thought to have arisen as a result of duplication events of entire genes. Thsi gene also has two processed pseudogenes (PCBP2P1 and PCBP2P2). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for a knock-out allele exhibit decreased body weight, impaired erythroblast maturation and lowered mean platelet counts. Mice homozygous for this allele die between E12.5 and E15.5 with hemorrhage and edema. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595M18Rik	A	T	X: 80,463,317 (GRCm39)	Y797N	possibly damaging	Het
Actbl2	G	A	13: 111,392,106 (GRCm39)	G147E	probably damaging	Het
Adam18	A	T	8: 25,101,165 (GRCm39)		probably benign	Het
Ahcyl2	G	A	6: 29,880,556 (GRCm39)	V175I	probably benign	Het
Alox12	T	A	11: 70,140,911 (GRCm39)	T375S	probably damaging	Het
Batf2	C	A	19: 6,221,819 (GRCm39)	Q210K	probably damaging	Het
Bicd1	T	C	6: 149,385,494 (GRCm39)	S76P	probably damaging	Het
Bphl	A	T	13: 34,247,980 (GRCm39)	H251L	probably damaging	Het
C130074G19Rik	C	A	1: 184,614,943 (GRCm39)	E82D	probably damaging	Het
Calu	A	T	6: 29,356,584 (GRCm39)	K39*	probably null	Het
Capns1	T	C	7: 29,891,618 (GRCm39)	D142G	probably damaging	Het
Ccr8	T	C	9: 119,923,206 (GRCm39)	V107A	probably damaging	Het
Cep170b	G	A	12: 112,702,878 (GRCm39)	G447D	possibly damaging	Het
Chat	C	T	14: 32,170,903 (GRCm39)	V199M	probably damaging	Het
Cntnap1	G	T	11: 101,075,575 (GRCm39)	V918L	probably damaging	Het
Cyp27a1	A	G	1: 74,771,249 (GRCm39)	T145A	probably benign	Het
Dgkq	T	A	5: 108,804,287 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,369,948 (GRCm39)	I4458V	probably benign	Het
Enpp1	T	A	10: 24,536,172 (GRCm39)	E409D	probably damaging	Het
Fam78b	G	T	1: 166,906,457 (GRCm39)	L205F	probably damaging	Het
Foxr2	C	A	X: 151,913,677 (GRCm39)	R183S	probably damaging	Het
Ganc	T	C	2: 120,264,129 (GRCm39)	S361P	probably damaging	Het
Gfra4	C	A	2: 130,884,560 (GRCm39)	A15S	possibly damaging	Het
Gm8011	A	T	14: 42,287,957 (GRCm39)	D145V	unknown	Het
Gnb4	A	G	3: 32,639,372 (GRCm39)	V307A	probably benign	Het
Hdac4	A	T	1: 91,982,667 (GRCm39)	V17E	possibly damaging	Het
Herc6	G	A	6: 57,560,318 (GRCm39)		probably null	Het
Hivep3	A	G	4: 119,989,383 (GRCm39)	T1945A	probably benign	Het
Ica1l	A	T	1: 60,049,298 (GRCm39)	N218K	probably damaging	Het
Kmt2b	A	T	7: 30,274,887 (GRCm39)	L1939Q	probably benign	Het
Lrrc40	G	A	3: 157,747,302 (GRCm39)		probably benign	Het
Marchf8	C	T	6: 116,380,499 (GRCm39)	R117C	probably damaging	Het
Megf6	T	C	4: 154,338,234 (GRCm39)	S327P	probably damaging	Het
Mocos	T	G	18: 24,809,668 (GRCm39)	C424G	probably damaging	Het
Mrpl50	A	G	4: 49,521,014 (GRCm39)	W14R	probably benign	Het
Mysm1	A	T	4: 94,863,523 (GRCm39)	D23E	probably benign	Het
Naa35	T	A	13: 59,734,085 (GRCm39)	D34E	probably benign	Het
Nid1	A	G	13: 13,656,806 (GRCm39)	I646V	probably benign	Het
Nupr1	T	C	7: 126,224,073 (GRCm39)		probably benign	Het
Or2aj6	G	T	16: 19,443,051 (GRCm39)	H266Q	probably damaging	Het
Or5b24	A	T	19: 12,912,164 (GRCm39)	I21F	probably benign	Het
Or8b12b	T	G	9: 37,684,882 (GRCm39)	L309R	probably benign	Het
Pde8b	T	C	13: 95,232,156 (GRCm39)	Q158R	probably damaging	Het
Pdzd8	T	C	19: 59,289,291 (GRCm39)	Y703C	probably damaging	Het
Plxnb3	T	C	X: 72,808,889 (GRCm39)	S885P	probably benign	Het
Poc1b	T	A	10: 98,980,176 (GRCm39)	C136S	probably damaging	Het
Pole2	T	C	12: 69,256,649 (GRCm39)	D292G	probably damaging	Het
Prpf39	T	C	12: 65,089,553 (GRCm39)	V97A	probably benign	Het
Rbbp8	T	A	18: 11,838,869 (GRCm39)	H183Q	possibly damaging	Het
Scn2a	C	T	2: 65,532,188 (GRCm39)	T600M	possibly damaging	Het
Spata32	T	C	11: 103,099,629 (GRCm39)	Q292R	possibly damaging	Het
Sugp1	T	C	8: 70,523,758 (GRCm39)		probably benign	Het
Sult3a1	A	C	10: 33,753,269 (GRCm39)		probably benign	Het
Tpm3-rs7	C	T	14: 113,552,810 (GRCm39)	Q235*	probably null	Het
Trbv2	A	T	6: 41,024,685 (GRCm39)	T34S	possibly damaging	Het
Tssk6	A	G	8: 70,355,535 (GRCm39)	Y193C	probably benign	Het
Ttn	T	C	2: 76,538,802 (GRCm39)	K34676R	possibly damaging	Het
Ugt3a1	T	C	15: 9,370,154 (GRCm39)	Y433H	probably damaging	Het
Wdhd1	T	C	14: 47,479,101 (GRCm39)	K1072E	possibly damaging	Het

Other mutations in Pcbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Pcbp2	APN	15	102,399,148 (GRCm39)	missense	probably damaging	1.00
IGL01530:Pcbp2	APN	15	102,392,601 (GRCm39)	missense	probably benign	0.03
IGL01641:Pcbp2	APN	15	102,382,575 (GRCm39)	missense	probably damaging	1.00
Plastic	UTSW	15	102,399,214 (GRCm39)	missense	probably damaging	1.00
R0116:Pcbp2	UTSW	15	102,382,670 (GRCm39)	splice site	probably benign
R0924:Pcbp2	UTSW	15	102,398,197 (GRCm39)	missense	probably damaging	1.00
R4227:Pcbp2	UTSW	15	102,387,066 (GRCm39)	missense	probably benign	0.38
R5333:Pcbp2	UTSW	15	102,394,456 (GRCm39)	missense	possibly damaging	0.82
R5653:Pcbp2	UTSW	15	102,395,524 (GRCm39)	missense	probably damaging	1.00
R5814:Pcbp2	UTSW	15	102,391,597 (GRCm39)	missense	probably damaging	0.99
R6731:Pcbp2	UTSW	15	102,397,225 (GRCm39)	missense	probably damaging	0.99
R7120:Pcbp2	UTSW	15	102,383,113 (GRCm39)	missense	possibly damaging	0.94
R7320:Pcbp2	UTSW	15	102,381,782 (GRCm39)	missense	probably damaging	1.00
R8025:Pcbp2	UTSW	15	102,396,711 (GRCm39)	missense	probably benign	0.04
R8831:Pcbp2	UTSW	15	102,394,453 (GRCm39)	missense	probably benign	0.02
R8969:Pcbp2	UTSW	15	102,399,214 (GRCm39)	missense	probably damaging	1.00
R9231:Pcbp2	UTSW	15	102,394,477 (GRCm39)	critical splice donor site	probably null
R9498:Pcbp2	UTSW	15	102,406,941 (GRCm39)	missense	probably benign	0.00
R9571:Pcbp2	UTSW	15	102,383,113 (GRCm39)	missense	possibly damaging	0.94
R9623:Pcbp2	UTSW	15	102,392,628 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18