Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00470:Pcbp2'

4023

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 #

IGL00470

Quality Score

Status

Chromosome

Chromosomal Location

102378974-102408496 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102399148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 224 (A224V)

Ref Sequence

ENSEMBL: ENSMUSP00000155431 (fasta)

Gene Model

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

AlphaFold

Q61990

Predicted Effect

probably damaging
Transcript: ENSMUST00000077037
AA Change: A321V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076294
Gene: ENSMUSG00000056851
AA Change: A321V

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 damaging
Transcript: ENSMUST00000078404
AA Change: A321V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000077509
Gene: ENSMUSG00000056851
AA Change: A321V

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 damaging
Transcript: ENSMUST00000108838
AA Change: A281V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104466
Gene: ENSMUSG00000056851
AA Change: A281V

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: ENSMUST00000184881

Predicted Effect

probably damaging
Transcript: ENSMUST00000229061
AA Change: A143V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000229102

Predicted Effect

probably damaging
Transcript: ENSMUST00000229184
AA Change: A275V

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230114
AA Change: A320V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

unknown
Transcript: ENSMUST00000229432
AA Change: A139V

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229618
AA Change: A290V

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229918
AA Change: A294V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229802
AA Change: A294V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229854
AA Change: A308V

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000229533

Predicted Effect

probably benign
Transcript: ENSMUST00000229958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230282

Predicted Effect

probably benign
Transcript: ENSMUST00000229746

Predicted Effect

probably benign
Transcript: ENSMUST00000230211

Predicted Effect

probably benign
Transcript: ENSMUST00000229219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229822

Predicted Effect

probably damaging
Transcript: ENSMUST00000231085
AA Change: A224V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000230682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230631

Predicted Effect

probably benign
Transcript: ENSMUST00000230918

Predicted Effect

probably benign
Transcript: ENSMUST00000230539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230997

Predicted Effect

probably benign
Transcript: ENSMUST00000231089

Predicted Effect

probably benign
Transcript: ENSMUST00000230577

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732463B04Rik	G	T	12: 84,090,578 (GRCm39)		probably benign	Het
Abcd1	T	C	X: 72,761,154 (GRCm39)	L173P	probably damaging	Het
Adam18	T	A	8: 25,118,149 (GRCm39)	D41V	probably damaging	Het
Armh4	A	T	14: 50,010,460 (GRCm39)	S416T	probably damaging	Het
Aspa	T	G	11: 73,204,447 (GRCm39)		probably benign	Het
Cacna2d1	T	A	5: 16,451,654 (GRCm39)		probably benign	Het
Cracd	G	A	5: 77,013,903 (GRCm39)		probably benign	Het
Cubn	T	A	2: 13,283,229 (GRCm39)	I3570L	probably benign	Het
Cyp2j13	G	A	4: 95,950,275 (GRCm39)	P242L	probably damaging	Het
Cysrt1	T	C	2: 25,129,513 (GRCm39)		probably benign	Het
Dchs1	A	T	7: 105,407,414 (GRCm39)	L2100H	probably damaging	Het
Ddb1	G	A	19: 10,589,028 (GRCm39)	A229T	possibly damaging	Het
Dst	A	T	1: 34,228,043 (GRCm39)	I1554F	probably damaging	Het
Dvl3	C	T	16: 20,349,689 (GRCm39)	P554L	probably damaging	Het
Fcgbp	C	A	7: 27,774,511 (GRCm39)	C28*	probably null	Het
Gm773	T	C	X: 55,247,373 (GRCm39)	D53G	probably benign	Het
Hhat	A	G	1: 192,399,325 (GRCm39)	Y272H	probably damaging	Het
Inpp5k	T	C	11: 75,536,351 (GRCm39)	S310P	probably benign	Het
Kat2a	G	A	11: 100,596,210 (GRCm39)	R782W	probably damaging	Het
Kcnh5	T	C	12: 74,944,570 (GRCm39)	D893G	probably benign	Het
Lama2	T	C	10: 27,119,738 (GRCm39)	T709A	probably benign	Het
Mcm8	G	A	2: 132,669,457 (GRCm39)	V281I	probably benign	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Nup133	T	G	8: 124,665,822 (GRCm39)	D201A	probably damaging	Het
Oxct2a	A	G	4: 123,217,183 (GRCm39)	L66P	possibly damaging	Het
Phf8-ps	T	A	17: 33,284,837 (GRCm39)	H655L	probably benign	Het
Pla2g4e	G	A	2: 120,015,719 (GRCm39)	S275F	probably benign	Het
Pxk	T	C	14: 8,130,754 (GRCm38)	F118L	probably damaging	Het
Sp2	C	T	11: 96,845,387 (GRCm39)	R578H	probably damaging	Het
Sphkap	A	G	1: 83,255,631 (GRCm39)	M706T	possibly damaging	Het
Tars3	T	C	7: 65,338,656 (GRCm39)	M689T	probably benign	Het
Trrap	T	C	5: 144,754,848 (GRCm39)	V2008A	probably damaging	Het
Txndc2	A	T	17: 65,945,569 (GRCm39)	S203T	probably benign	Het
Txnrd1	T	G	10: 82,711,496 (GRCm39)	D42E	probably damaging	Het
Zswim8	G	A	14: 20,773,249 (GRCm39)	D1746N	probably damaging	Het

Other mutations in Pcbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02966:Pcbp2	APN	15	102,392,684 (GRCm39)	splice site	probably benign
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

2012-04-20