Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01641:Pcbp2'

93159

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 #

IGL01641

Quality Score

Status

Chromosome

Chromosomal Location

102378974-102408496 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102382575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 27 (S27G)

Ref Sequence

ENSEMBL: ENSMUSP00000155789 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077037] [ENSMUST00000078404] [ENSMUST00000108838] [ENSMUST00000229102] [ENSMUST00000229184] [ENSMUST00000229222] [ENSMUST00000229802] [ENSMUST00000230114] [ENSMUST00000229618] [ENSMUST00000229958] [ENSMUST00000229275] [ENSMUST00000229854] [ENSMUST00000229918] [ENSMUST00000230539] [ENSMUST00000230211] [ENSMUST00000229746] [ENSMUST00000230577] [ENSMUST00000231089] [ENSMUST00000230728] [ENSMUST00000230918] [ENSMUST00000231085]

AlphaFold

Q61990

Predicted Effect

probably damaging
Transcript: ENSMUST00000077037
AA Change: S27G

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

SMART Domains

Protein: ENSMUSP00000076294
Gene: ENSMUSG00000056851
AA Change: S27G

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: S27G

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

SMART Domains

Protein: ENSMUSP00000077509
Gene: ENSMUSG00000056851
AA Change: S27G

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: S27G

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

SMART Domains

Protein: ENSMUSP00000104466
Gene: ENSMUSG00000056851
AA Change: S27G

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

probably benign
Transcript: ENSMUST00000229102
AA Change: S27G

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000229184
AA Change: S27G

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000229219

Predicted Effect

probably benign
Transcript: ENSMUST00000229222
AA Change: S27G

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000229802
AA Change: S27G

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230114
AA Change: S27G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000229618
AA Change: S27G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229958
AA Change: S27G

PolyPhen 2 Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000229275
AA Change: S27G

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229854
AA Change: S27G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229918
AA Change: S27G

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000230539

Predicted Effect

probably benign
Transcript: ENSMUST00000230211

Predicted Effect

probably benign
Transcript: ENSMUST00000229746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230129

Predicted Effect

probably benign
Transcript: ENSMUST00000229533

Predicted Effect

probably benign
Transcript: ENSMUST00000230577

Predicted Effect

probably benign
Transcript: ENSMUST00000231089
AA Change: S27G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000230728
AA Change: S27G

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000230918

Predicted Effect

probably benign
Transcript: ENSMUST00000230682

Predicted Effect

probably benign
Transcript: ENSMUST00000231085

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora1	A	G	1: 134,161,852 (GRCm39)	L81P	probably damaging	Het
Agl	C	A	3: 116,578,104 (GRCm39)	E537*	probably null	Het
Bpifb4	A	G	2: 153,784,601 (GRCm39)	Y103C	possibly damaging	Het
Cobl	T	A	11: 12,259,641 (GRCm39)	K375*	probably null	Het
Crisp4	C	A	1: 18,194,514 (GRCm39)	A160S	possibly damaging	Het
Foxs1	T	C	2: 152,774,232 (GRCm39)	T274A	probably benign	Het
Gm8220	A	T	14: 44,525,628 (GRCm39)	H14L	probably benign	Het
Irak3	T	C	10: 120,012,252 (GRCm39)	I171V	probably benign	Het
Itih2	A	G	2: 10,115,250 (GRCm39)	I374T	probably benign	Het
Or4c10b	G	A	2: 89,711,952 (GRCm39)	A261T	probably benign	Het
Pcbp3	T	A	10: 76,603,691 (GRCm39)		probably benign	Het
Pik3c2a	A	T	7: 115,950,000 (GRCm39)		probably benign	Het
Prickle1	A	T	15: 93,398,453 (GRCm39)	F792I	probably benign	Het
Ube2u	A	G	4: 100,338,854 (GRCm39)	I40V	probably benign	Het
Vmn2r1	A	G	3: 64,011,924 (GRCm39)	E595G	probably benign	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
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

2013-12-09