Mutagenetix > Incidental Mutation

Incidental Mutation 'R8969:Pcbp2'

682967

Institutional Source

Beutler Lab

Gene Symbol

Pcbp2

Ensembl Gene

ENSMUSG00000056851

Gene Name

poly(rC) binding protein 2

Synonyms

alphaCP-2, Hnrpx

MMRRC Submission

068803-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R8969 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102378974-102408496 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 102399214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 343 (L343R)

Ref Sequence

ENSEMBL: ENSMUSP00000076294 (fasta)

Gene Model

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

AlphaFold

Q61990

Predicted Effect

probably damaging
Transcript: ENSMUST00000077037
AA Change: L343R

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

SMART Domains

Protein: ENSMUSP00000076294
Gene: ENSMUSG00000056851
AA Change: L343R

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: L343R

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

SMART Domains

Protein: ENSMUSP00000077509
Gene: ENSMUSG00000056851
AA Change: L343R

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: L303R

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

SMART Domains

Protein: ENSMUSP00000104466
Gene: ENSMUSG00000056851
AA Change: L303R

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

probably damaging
Transcript: ENSMUST00000229061
AA Change: L165R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229102

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229184
AA Change: L297R

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000229219

Predicted Effect

probably benign
Transcript: ENSMUST00000229533

Predicted Effect

probably damaging
Transcript: ENSMUST00000229618
AA Change: L312R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229746

Predicted Effect

probably damaging
Transcript: ENSMUST00000229802
AA Change: L316R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229854
AA Change: L330R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229918
AA Change: L316R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229958

Predicted Effect

probably damaging
Transcript: ENSMUST00000230114
AA Change: L342R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000230211

Predicted Effect

probably benign
Transcript: ENSMUST00000230539

Predicted Effect

probably benign
Transcript: ENSMUST00000230577

Predicted Effect

probably benign
Transcript: ENSMUST00000230682

Predicted Effect

probably benign
Transcript: ENSMUST00000230728

Predicted Effect

probably benign
Transcript: ENSMUST00000230918

Predicted Effect

probably damaging
Transcript: ENSMUST00000231085
AA Change: L246R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000231089

Meta Mutation Damage Score

0.8555

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (77/77)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,227,944 (GRCm39)	N662K	probably benign	Het
Acp7	G	A	7: 28,307,382 (GRCm39)	R492W	probably damaging	Het
Adam33	C	T	2: 130,894,994 (GRCm39)	G688D	probably damaging	Het
Ak3	T	G	19: 29,025,094 (GRCm39)	M46L	probably benign	Het
Aldh1l1	A	G	6: 90,547,790 (GRCm39)	T417A	probably benign	Het
Ambp	C	T	4: 63,072,328 (GRCm39)		probably benign	Het
Arhgef11	T	C	3: 87,632,949 (GRCm39)	S687P	probably damaging	Het
Ash1l	T	C	3: 88,873,598 (GRCm39)	M127T	possibly damaging	Het
Atg9b	C	T	5: 24,592,832 (GRCm39)	A524T	probably benign	Het
Btbd10	A	T	7: 112,925,162 (GRCm39)	S277T	probably damaging	Het
Ccdc167	T	C	17: 29,924,553 (GRCm39)	D16G	probably damaging	Het
Cdh12	A	G	15: 21,492,739 (GRCm39)	T253A	probably damaging	Het
Cfap206	A	T	4: 34,692,522 (GRCm39)	D501E	probably benign	Het
Chrnb2	A	G	3: 89,664,532 (GRCm39)	F461L	probably damaging	Het
Clic1	T	C	17: 35,274,386 (GRCm39)		probably null	Het
Cmah	A	G	13: 24,606,636 (GRCm39)	Y89C	probably damaging	Het
Crkl	A	G	16: 17,286,918 (GRCm39)	E158G	probably damaging	Het
Cyp3a59	A	T	5: 146,049,630 (GRCm39)	E486V	probably benign	Het
D16Ertd472e	T	G	16: 78,344,682 (GRCm39)	Y142S	probably damaging	Het
Decr2	T	A	17: 26,306,355 (GRCm39)	M94L	probably benign	Het
Dspp	A	T	5: 104,325,640 (GRCm39)	S668C	unknown	Het
Dync2h1	T	C	9: 7,130,723 (GRCm39)	R1708G	probably damaging	Het
Eno3	T	A	11: 70,551,691 (GRCm39)	I217N	possibly damaging	Het
Fcho2	A	T	13: 98,891,604 (GRCm39)	L386*	probably null	Het
Gm5114	C	A	7: 39,058,732 (GRCm39)	V296F	probably damaging	Het
Hc	A	G	2: 34,909,475 (GRCm39)		probably null	Het
Helz2	A	G	2: 180,879,581 (GRCm39)	V679A	probably benign	Het
Ifnar2	T	C	16: 91,201,060 (GRCm39)	F434L	probably benign	Het
Isl1	A	G	13: 116,439,857 (GRCm39)	S164P	possibly damaging	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Kat2b	T	A	17: 53,967,116 (GRCm39)	Y621*	probably null	Het
Kif2b	T	C	11: 91,468,019 (GRCm39)	H88R	probably benign	Het
Kit	G	A	5: 75,799,722 (GRCm39)	V485I		Het
Klhl36	T	C	8: 120,596,887 (GRCm39)	L196P	probably damaging	Het
Klk1b27	T	A	7: 43,703,932 (GRCm39)	I25K	probably damaging	Het
Kmt2c	T	A	5: 25,519,387 (GRCm39)	Q2241L	possibly damaging	Het
Krt10	T	A	11: 99,278,434 (GRCm39)	N242Y	probably damaging	Het
Krt36	T	A	11: 99,993,129 (GRCm39)	I449F	probably damaging	Het
Med27	G	T	2: 29,236,875 (GRCm39)	V7F	possibly damaging	Het
Mettl25b	G	A	3: 87,837,282 (GRCm39)		probably benign	Het
Mxd1	C	T	6: 86,628,466 (GRCm39)	V145M	probably benign	Het
Mylip	T	A	13: 45,544,820 (GRCm39)	F81L	probably damaging	Het
Nceh1	T	A	3: 27,276,885 (GRCm39)	F69L	probably null	Het
Ndufs3	A	T	2: 90,732,773 (GRCm39)	N104K	probably damaging	Het
Nfxl1	A	C	5: 72,716,473 (GRCm39)	V46G	unknown	Het
Or51a39	T	C	7: 102,363,558 (GRCm39)	T21A	probably benign	Het
Or51f1e	T	G	7: 102,747,251 (GRCm39)	I101S	probably damaging	Het
Or5as1	T	A	2: 86,980,928 (GRCm39)	M26L	probably benign	Het
Or5m10b	A	G	2: 85,699,832 (GRCm39)	N299D	probably benign	Het
Palld	T	A	8: 62,137,883 (GRCm39)	H624L	probably damaging	Het
Pclo	T	A	5: 14,572,208 (GRCm39)	I531N	unknown	Het
Phip	T	C	9: 82,809,017 (GRCm39)		probably benign	Het
Phldb2	A	T	16: 45,592,496 (GRCm39)		probably null	Het
Ppp2r5e	G	T	12: 75,500,492 (GRCm39)	T467N	possibly damaging	Het
Ptcd3	T	C	6: 71,880,431 (GRCm39)	I97M	probably benign	Het
Ptpn21	T	A	12: 98,655,284 (GRCm39)	Q561L	probably benign	Het
Rnf38	A	T	4: 44,149,079 (GRCm39)	H121Q	possibly damaging	Het
Sec1	A	G	7: 45,328,897 (GRCm39)	F50S	possibly damaging	Het
Sec62	A	G	3: 30,873,024 (GRCm39)	E369G	unknown	Het
Serpinb2	A	T	1: 107,452,390 (GRCm39)	I323F	probably damaging	Het
Sh3rf1	A	C	8: 61,837,860 (GRCm39)	T802P	probably benign	Het
Srd5a3	A	G	5: 76,301,493 (GRCm39)	R241G	probably benign	Het
Suox	T	C	10: 128,507,542 (GRCm39)	N162S	probably benign	Het
Tenm2	C	T	11: 35,942,688 (GRCm39)	C1327Y	probably damaging	Het
Terf2ip	A	G	8: 112,738,370 (GRCm39)	D86G	probably damaging	Het
Tmc1	G	A	19: 20,793,593 (GRCm39)	R523C	probably damaging	Het
Tmprss11e	T	A	5: 86,861,758 (GRCm39)	I263L	possibly damaging	Het
Tmtc4	T	C	14: 123,179,224 (GRCm39)		probably benign	Het
Tnfrsf22	T	A	7: 143,192,173 (GRCm39)	N171I	unknown	Het
Trpm3	A	G	19: 22,903,308 (GRCm39)	S1035G	probably damaging	Het
U2af1	C	T	17: 31,867,854 (GRCm39)	V72M	possibly damaging	Het
Uimc1	A	G	13: 55,233,447 (GRCm39)	C70R	possibly damaging	Het
Vmn2r83	A	G	10: 79,313,853 (GRCm39)	T154A	probably benign	Het
Xrn2	T	C	2: 146,871,304 (GRCm39)	I302T	probably damaging	Het
Zbtb6	A	G	2: 37,318,677 (GRCm39)	L417P	probably damaging	Het
Zdhhc14	C	T	17: 5,775,555 (GRCm39)	S269L	probably benign	Het
Zfp735	T	A	11: 73,602,699 (GRCm39)	F548I	possibly damaging	Het
Zfp809	T	C	9: 22,137,130 (GRCm39)		probably null	Het
Zranb3	A	T	1: 127,888,588 (GRCm39)	D832E	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
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
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'- TCGCTGTGCAACTCTTAATTTG -3'
(R):5'- CTGTCCTATTCAGCACAGGC -3'

Sequencing Primer
(F):5'- GCTGTGCAACTCTTAATTTGTTTTTG -3'
(R):5'- TGTCCTATTCAGCACAGGCATATAC -3'

Posted On

2021-10-11