Mutagenetix > Incidental Mutation

Incidental Mutation 'R9498:Pcbp2'

717390

Institutional Source

Beutler Lab

Gene Symbol

Pcbp2

Ensembl Gene

ENSMUSG00000056851

Gene Name

poly(rC) binding protein 2

Synonyms

alphaCP-2, Hnrpx

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R9498 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102378974-102408496 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102406941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 357 (G357D)

Ref Sequence

ENSEMBL: ENSMUSP00000076294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023812] [ENSMUST00000077037] [ENSMUST00000078404] [ENSMUST00000108838] [ENSMUST00000169377] [ENSMUST00000171565] [ENSMUST00000229061] [ENSMUST00000229184] [ENSMUST00000229618] [ENSMUST00000229802] [ENSMUST00000229854] [ENSMUST00000229918] [ENSMUST00000230114] [ENSMUST00000231085]

AlphaFold

Q61990

Predicted Effect

probably benign
Transcript: ENSMUST00000023812

SMART Domains

Protein: ENSMUSP00000023812
Gene: ENSMUSG00000023050

Domain	Start	End	E-Value	Type
low complexity region	54	75	N/A	INTRINSIC
Pfam:Pkinase	158	397	3.3e-59	PFAM
Pfam:Pkinase_Tyr	159	397	2.7e-62	PFAM
coiled coil region	447	501	N/A	INTRINSIC
low complexity region	559	577	N/A	INTRINSIC
low complexity region	599	617	N/A	INTRINSIC
low complexity region	640	663	N/A	INTRINSIC
low complexity region	664	678	N/A	INTRINSIC
low complexity region	691	727	N/A	INTRINSIC
low complexity region	751	764	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077037
AA Change: G357D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000076294
Gene: ENSMUSG00000056851
AA Change: G357D

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
AA Change: G357D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000077509
Gene: ENSMUSG00000056851
AA Change: G357D

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: G317D

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104466
Gene: ENSMUSG00000056851
AA Change: G317D

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 benign
Transcript: ENSMUST00000169377

SMART Domains

Protein: ENSMUSP00000133209
Gene: ENSMUSG00000023050

Domain	Start	End	E-Value	Type
low complexity region	54	75	N/A	INTRINSIC
Pfam:Pkinase	159	397	1.2e-58	PFAM
Pfam:Pkinase_Tyr	160	397	3.7e-62	PFAM
coiled coil region	447	501	N/A	INTRINSIC
low complexity region	559	577	N/A	INTRINSIC
low complexity region	599	617	N/A	INTRINSIC
low complexity region	640	663	N/A	INTRINSIC
low complexity region	664	678	N/A	INTRINSIC
low complexity region	691	727	N/A	INTRINSIC
low complexity region	751	764	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171565

SMART Domains

Protein: ENSMUSP00000127629
Gene: ENSMUSG00000023050

Domain	Start	End	E-Value	Type
low complexity region	54	75	N/A	INTRINSIC
Pfam:Pkinase	158	397	3.3e-59	PFAM
Pfam:Pkinase_Tyr	159	397	2.7e-62	PFAM
coiled coil region	447	501	N/A	INTRINSIC
low complexity region	559	577	N/A	INTRINSIC
low complexity region	599	617	N/A	INTRINSIC
low complexity region	640	663	N/A	INTRINSIC
low complexity region	664	678	N/A	INTRINSIC
low complexity region	691	727	N/A	INTRINSIC
low complexity region	751	764	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229061
AA Change: G179D

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000229184
AA Change: G311D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000229618
AA Change: G326D

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000229802
AA Change: G330D

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000229854
AA Change: G344D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000229918
AA Change: G330D

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000230114
AA Change: G356D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000231085
AA Change: G260D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aadacl3	A	G	4: 144,182,989 (GRCm39)	Y160H	probably damaging	Het
Abca17	T	C	17: 24,484,480 (GRCm39)	Y1594C	probably damaging	Het
Abca8a	T	C	11: 109,977,374 (GRCm39)	I128M	probably damaging	Het
Abhd12b	A	G	12: 70,210,237 (GRCm39)	I138V	probably benign	Het
Adcy8	G	A	15: 64,792,045 (GRCm39)	L304F	possibly damaging	Het
Alb	T	C	5: 90,617,362 (GRCm39)	F354L	probably damaging	Het
Ampd3	T	A	7: 110,409,053 (GRCm39)	S688R	probably damaging	Het
Aoc1l3	AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC	AGGCCCAGCC	6: 48,964,952 (GRCm39)		probably benign	Het
Areg	T	G	5: 91,294,553 (GRCm39)	L237R	probably damaging	Het
Arhgef11	A	G	3: 87,640,484 (GRCm39)	S1243G	probably benign	Het
B3glct	A	G	5: 149,673,894 (GRCm39)		probably null	Het
Casp7	T	A	19: 56,424,767 (GRCm39)	L162Q	probably damaging	Het
Cdh20	A	G	1: 109,976,635 (GRCm39)	N100S	probably benign	Het
Cdh22	G	T	2: 164,954,490 (GRCm39)	T677N	probably damaging	Het
Cmtm5	T	A	14: 55,174,205 (GRCm39)	S31T	probably benign	Het
Col6a3	T	A	1: 90,713,650 (GRCm39)	R2295*	probably null	Het
Cpa6	T	C	1: 10,479,546 (GRCm39)	N229S	possibly damaging	Het
Dagla	G	T	19: 10,232,218 (GRCm39)	Y489*	probably null	Het
Dnah7b	A	G	1: 46,253,564 (GRCm39)	K1823R	probably benign	Het
Dnah9	T	C	11: 65,739,199 (GRCm39)	N4180D	probably damaging	Het
Dsg3	A	C	18: 20,658,278 (GRCm39)	E296D	probably damaging	Het
Ednra	A	T	8: 78,446,934 (GRCm39)	L48Q	probably benign	Het
Esco2	T	C	14: 66,068,752 (GRCm39)	D186G	probably benign	Het
Foxj2	A	G	6: 122,819,792 (GRCm39)	D560G	probably damaging	Het
Frmd3	G	A	4: 74,038,055 (GRCm39)	M105I	probably benign	Het
Gria4	A	T	9: 4,503,560 (GRCm39)		probably null	Het
Hrob	T	C	11: 102,150,167 (GRCm39)	S410P	probably benign	Het
Ifi204	T	C	1: 173,583,537 (GRCm39)	E227G	possibly damaging	Het
Lgalsl	T	A	11: 20,779,439 (GRCm39)	I69F	possibly damaging	Het
Myo15b	A	G	11: 115,770,784 (GRCm39)	T1588A		Het
Myo9a	A	G	9: 59,734,466 (GRCm39)	S683G	probably damaging	Het
Ncam2	T	C	16: 81,309,887 (GRCm39)	I459T	probably benign	Het
Nedd4l	T	C	18: 65,294,723 (GRCm39)		probably null	Het
Nfic	T	C	10: 81,256,502 (GRCm39)	E54G	probably damaging	Het
Nrxn1	T	C	17: 90,897,397 (GRCm39)	T920A	probably damaging	Het
Obsl1	C	T	1: 75,467,484 (GRCm39)	C1430Y	probably damaging	Het
Or8k17	A	G	2: 86,066,838 (GRCm39)	F107L	probably damaging	Het
Pcdhb1	A	G	18: 37,398,516 (GRCm39)	S156G	probably damaging	Het
Pcdhb15	A	T	18: 37,606,890 (GRCm39)	R41*	probably null	Het
Pde1b	A	T	15: 103,435,489 (GRCm39)	D448V	probably benign	Het
Pex7	G	A	10: 19,762,859 (GRCm39)	R227*	probably null	Het
Pkp1	T	A	1: 135,817,820 (GRCm39)	Y105F	probably benign	Het
Plbd1	T	C	6: 136,589,244 (GRCm39)	T529A	possibly damaging	Het
Plxnc1	C	G	10: 94,649,004 (GRCm39)	Q1258H	possibly damaging	Het
Prr36	T	A	8: 4,263,291 (GRCm39)	T792S	unknown	Het
Rasgrf1	A	T	9: 89,826,921 (GRCm39)	T177S	probably benign	Het
Rbm14	A	G	19: 4,853,495 (GRCm39)	S296P	probably benign	Het
Rfx8	T	C	1: 39,724,674 (GRCm39)	Y229C	probably damaging	Het
Rgs3	A	T	4: 62,575,412 (GRCm39)	S600C	probably damaging	Het
Slc29a4	T	A	5: 142,704,233 (GRCm39)	S296T	probably benign	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Srsf6	A	G	2: 162,774,009 (GRCm39)	E68G	probably benign	Het
Syt13	A	T	2: 92,781,749 (GRCm39)	N317Y	possibly damaging	Het
Tars2	A	T	3: 95,647,553 (GRCm39)	L701Q	probably damaging	Het
Tbc1d16	A	T	11: 119,048,681 (GRCm39)	V324E	probably damaging	Het
Tbc1d21	A	G	9: 58,273,924 (GRCm39)	L84P	probably damaging	Het
Trappc6b	A	G	12: 59,097,127 (GRCm39)	M65T	possibly damaging	Het
Tubb1	A	G	2: 174,299,403 (GRCm39)	N362D	probably benign	Het
Tubgcp5	C	T	7: 55,463,233 (GRCm39)	T475M	possibly damaging	Het
Ugt2b37	T	C	5: 87,402,244 (GRCm39)	K129R	probably benign	Het
Vmn2r55	A	G	7: 12,404,812 (GRCm39)	V197A	probably damaging	Het
Wfdc3	G	A	2: 164,584,997 (GRCm39)	L4F	possibly damaging	Het
Zfp141	T	A	7: 42,125,770 (GRCm39)	Q234L	probably benign	Het
Zfp850	T	C	7: 27,689,275 (GRCm39)	K311R	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
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
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'- GTGAAGAGACAGTGTCACCAAC -3'
(R):5'- TCTCAGCGTAACTGCTGAAC -3'

Sequencing Primer
(F):5'- CAGTGTCACCAACTTAACATCATTTG -3'
(R):5'- CTGAACAGAGAAAGGAATTAAAACAC -3'

Posted On

2022-07-18