Mutagenetix > Incidental Mutation

Incidental Mutation 'R5653:Pcbp2'

501226

Institutional Source

Beutler Lab

Gene Symbol

Pcbp2

Ensembl Gene

ENSMUSG00000056851

Gene Name

poly(rC) binding protein 2

Synonyms

alphaCP-2, Hnrpx

MMRRC Submission

043299-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R5653 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102378974-102408496 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102395524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 141 (A141V)

Ref Sequence

ENSEMBL: ENSMUSP00000155431 (fasta)

Gene Model

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

AlphaFold

Q61990

Predicted Effect

probably damaging
Transcript: ENSMUST00000077037
AA Change: A225V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076294
Gene: ENSMUSG00000056851
AA Change: A225V

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: A225V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000077509
Gene: ENSMUSG00000056851
AA Change: A225V

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

possibly damaging
Transcript: ENSMUST00000108838
AA Change: A198V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104466
Gene: ENSMUSG00000056851
AA Change: A198V

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 damaging
Transcript: ENSMUST00000229061
AA Change: A61V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229102

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229958
AA Change: A229V

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

unknown
Transcript: ENSMUST00000229533
AA Change: A142V

Predicted Effect

probably benign
Transcript: ENSMUST00000229918
AA Change: A198V

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000229746
AA Change: A156V

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229854
AA Change: A225V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000229802
AA Change: A198V

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230114
AA Change: A225V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

unknown
Transcript: ENSMUST00000229432
AA Change: A56V

Predicted Effect

probably damaging
Transcript: ENSMUST00000229618
AA Change: A194V

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230129

Predicted Effect

probably benign
Transcript: ENSMUST00000229219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229822

Predicted Effect

probably benign
Transcript: ENSMUST00000229184

Predicted Effect

probably benign
Transcript: ENSMUST00000229222

Predicted Effect

probably benign
Transcript: ENSMUST00000231089
AA Change: A194V

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000230211
AA Change: A160V

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230577
AA Change: A198V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000230918
AA Change: A163V

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231085
AA Change: A141V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230728
AA Change: A229V

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230282

Predicted Effect

probably benign
Transcript: ENSMUST00000230539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230997

Predicted Effect

probably benign
Transcript: ENSMUST00000230682

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	T	C	5: 36,040,756 (GRCm39)	L663P	probably damaging	Het
Atp10d	A	T	5: 72,421,410 (GRCm39)	Q682L	probably benign	Het
Atp8b1	A	G	18: 64,678,268 (GRCm39)	V876A	probably damaging	Het
Bard1	A	T	1: 71,070,588 (GRCm39)	V632E	probably benign	Het
Baz1b	A	T	5: 135,237,951 (GRCm39)	E209V	probably benign	Het
Bmp1	T	A	14: 70,727,534 (GRCm39)	Y683F	probably benign	Het
Cacnb1	A	T	11: 97,900,105 (GRCm39)		probably null	Het
Capza2	G	A	6: 17,654,112 (GRCm39)	A55T	probably damaging	Het
Cc2d2a	A	G	5: 43,879,804 (GRCm39)	N1127S	possibly damaging	Het
Ccdc13	A	G	9: 121,627,853 (GRCm39)	*255R	probably null	Het
Ddias	G	T	7: 92,507,937 (GRCm39)	N659K	probably damaging	Het
Ddr1	C	T	17: 35,997,400 (GRCm39)	A531T	probably benign	Het
Dnah9	T	C	11: 65,740,806 (GRCm39)	T4127A	probably damaging	Het
Dnajc10	T	A	2: 80,179,712 (GRCm39)	Y749N	probably damaging	Het
Dnm1l	A	G	16: 16,137,353 (GRCm39)	L422P	probably damaging	Het
Edil3	A	T	13: 89,279,931 (GRCm39)	N203I	probably damaging	Het
Egfr	C	T	11: 16,861,617 (GRCm39)	A1132V	probably benign	Het
Entpd7	C	T	19: 43,679,596 (GRCm39)	R50*	probably null	Het
Fat2	T	C	11: 55,201,142 (GRCm39)	D644G	probably damaging	Het
Fhip1a	A	T	3: 85,629,808 (GRCm39)	L40Q	probably damaging	Het
Galnt11	T	A	5: 25,453,856 (GRCm39)	D27E	probably damaging	Het
Gm10801	T	A	2: 98,494,396 (GRCm39)	F158I	probably damaging	Het
Gm37240	A	G	3: 84,405,102 (GRCm39)	F234L	probably damaging	Het
Gtf2ird1	A	T	5: 134,439,821 (GRCm39)	F136L	probably damaging	Het
Hspa1l	T	C	17: 35,196,396 (GRCm39)	V145A	probably damaging	Het
Ice2	A	G	9: 69,335,662 (GRCm39)	T882A	probably benign	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kat6b	A	G	14: 21,719,440 (GRCm39)	N1264S	probably benign	Het
Kcnq4	C	A	4: 120,559,608 (GRCm39)	V531L	probably benign	Het
Kif9	A	T	9: 110,353,999 (GRCm39)	K790N	probably damaging	Het
Lipe	T	A	7: 25,097,833 (GRCm39)	I37L	probably benign	Het
Lrrc43	A	G	5: 123,637,643 (GRCm39)	D270G	probably damaging	Het
Mon2	A	G	10: 122,861,999 (GRCm39)	Y782H	probably damaging	Het
Mrpl52	T	C	14: 54,664,686 (GRCm39)	S49P	probably damaging	Het
Or2ak5	G	A	11: 58,611,077 (GRCm39)	H266Y	probably damaging	Het
Or2h15	T	A	17: 38,442,075 (GRCm39)	T3S	possibly damaging	Het
Or5k14	A	G	16: 58,692,847 (GRCm39)	L222P	probably damaging	Het
Or5p56	A	T	7: 107,589,592 (GRCm39)	T7S	probably benign	Het
Pcsk9	T	A	4: 106,316,113 (GRCm39)	Y110F	probably damaging	Het
Plxna4	A	G	6: 32,494,551 (GRCm39)	S22P	possibly damaging	Het
Polq	T	A	16: 36,860,896 (GRCm39)	L506Q	probably damaging	Het
Prkn	C	T	17: 11,456,536 (GRCm39)	A119V	probably damaging	Het
Prx	C	T	7: 27,217,029 (GRCm39)	P510L	probably damaging	Het
Ptpre	T	C	7: 135,255,672 (GRCm39)	F54L	probably damaging	Het
Rspry1	T	G	8: 95,363,239 (GRCm39)		probably null	Het
Tnfrsf11b	A	T	15: 54,123,262 (GRCm39)	L113Q	probably damaging	Het
Tnk1	C	T	11: 69,744,411 (GRCm39)	G411S	probably damaging	Het
Tor3a	A	G	1: 156,484,080 (GRCm39)	L290S	probably damaging	Het
Tril	T	C	6: 53,794,970 (GRCm39)	T751A	probably benign	Het
Tubgcp6	C	T	15: 88,992,815 (GRCm39)	V547I	possibly damaging	Het
Txnrd3	T	C	6: 89,631,067 (GRCm39)	L121P	probably benign	Het
Vmn1r210	T	A	13: 23,011,378 (GRCm39)	R303*	probably null	Het
Vmn2r38	T	C	7: 9,100,764 (GRCm39)	M1V	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTTGGGGCTCAAAGAAGGC -3'
(R):5'- AGGGGTTTCACATTCAAAGGC -3'

Sequencing Primer
(F):5'- AGAAGGCCAGCTCAGTTCTGAC -3'
(R):5'- GGGGTTTCACATTCAAAGGCTAACAC -3'

Posted On

2017-12-01