Mutagenetix > Incidental Mutation

Incidental Mutation 'R6050:Pcbp4'

483505

Institutional Source

Beutler Lab

Gene Symbol

Pcbp4

Ensembl Gene

ENSMUSG00000023495

Gene Name

poly(rC) binding protein 4

Synonyms

AlphaCP-4, 1200003L19Rik

MMRRC Submission

044218-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R6050 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106330490-106341211 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106339422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 45 (V45A)

Ref Sequence

ENSEMBL: ENSMUSP00000139771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024260] [ENSMUST00000164834] [ENSMUST00000185507] [ENSMUST00000185779] [ENSMUST00000185874] [ENSMUST00000190428] [ENSMUST00000188396] [ENSMUST00000214252] [ENSMUST00000213156] [ENSMUST00000215656] [ENSMUST00000216379] [ENSMUST00000190430] [ENSMUST00000189099]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024260
AA Change: V224A

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000024260
Gene: ENSMUSG00000023495
AA Change: V224A

Domain	Start	End	E-Value	Type
KH	16	84	4.15e-14	SMART
KH	100	171	1.47e-14	SMART
KH	240	310	3.24e-16	SMART
low complexity region	327	349	N/A	INTRINSIC
low complexity region	364	381	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164834

SMART Domains

Protein: ENSMUSP00000129055
Gene: ENSMUSG00000091735

Domain	Start	End	E-Value	Type
Pfam:7tm_1	31	286	1.1e-16	PFAM
low complexity region	294	311	N/A	INTRINSIC
low complexity region	319	330	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185507
AA Change: V118A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140660
Gene: ENSMUSG00000023495
AA Change: V118A

Domain	Start	End	E-Value	Type
KH	2	65	2.4e-10	SMART
low complexity region	117	131	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185779

SMART Domains

Protein: ENSMUSP00000140629
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
KH	16	84	2.6e-16	SMART
KH	100	171	9.3e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185854

Predicted Effect

probably benign
Transcript: ENSMUST00000185874

SMART Domains

Protein: ENSMUSP00000141057
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
KH	16	84	2.6e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185996

Predicted Effect

probably benign
Transcript: ENSMUST00000190428
AA Change: V84A

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000139587
Gene: ENSMUSG00000023495
AA Change: V84A

Domain	Start	End	E-Value	Type
PDB:2JZX\|A	1	33	1e-8	PDB
Blast:KH	30	80	3e-26	BLAST
KH	100	167	2e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188396
AA Change: V45A

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139771
Gene: ENSMUSG00000023495
AA Change: V45A

Domain	Start	End	E-Value	Type
Blast:KH	1	41	2e-19	BLAST
KH	61	122	1.7e-7	SMART
low complexity region	139	161	N/A	INTRINSIC
low complexity region	176	193	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188448

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190799

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189882

Predicted Effect

probably benign
Transcript: ENSMUST00000214252
AA Change: V181A

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000213752
AA Change: V60A

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000213156
AA Change: V117A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000213201
AA Change: V107A

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000215656

Predicted Effect

probably benign
Transcript: ENSMUST00000216379

Predicted Effect

probably benign
Transcript: ENSMUST00000190430

SMART Domains

Protein: ENSMUSP00000140485
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
KH	16	84	2.6e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000189099

SMART Domains

Protein: ENSMUSP00000139991
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
Pfam:KH_1	33	77	1.3e-9	PFAM
Pfam:KH_3	36	77	3.4e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217405

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. This gene is induced by the p53 tumor suppressor, and the encoded protein can suppress cell proliferation by inducing apoptosis and cell cycle arrest in G(2)-M. This gene's protein is found in the cytoplasm, yet it lacks the nuclear localization signals found in other subfamily members. Multiple alternatively spliced transcript variants have been described, but the full-length nature for only some has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous or heterozygous for a knock-out allele are reduced in body weight and prone to lung adenocarcinoma, B cell derived lymphoma and lung tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Ahdc1	A	G	4: 132,793,202 (GRCm39)	D1481G	possibly damaging	Het
Ak9	A	G	10: 41,265,108 (GRCm39)	E955G	possibly damaging	Het
Aox3	T	C	1: 58,219,814 (GRCm39)	F1138S	possibly damaging	Het
Bbs2	T	A	8: 94,819,160 (GRCm39)	N70Y	probably damaging	Het
BC048679	T	C	7: 81,145,339 (GRCm39)	I70V	possibly damaging	Het
Catspere2	G	A	1: 177,931,490 (GRCm39)	A470T	unknown	Het
Ccdc141	G	T	2: 76,842,075 (GRCm39)	A1452E	probably benign	Het
Celsr1	T	C	15: 85,814,812 (GRCm39)	D1883G	probably benign	Het
Clhc1	A	G	11: 29,511,397 (GRCm39)	I280M	possibly damaging	Het
Cmtr1	G	T	17: 29,901,108 (GRCm39)	K678N	probably damaging	Het
Daam2	T	C	17: 49,793,530 (GRCm39)	D329G	possibly damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Duox1	C	T	2: 122,149,956 (GRCm39)	P116S	probably benign	Het
Fcf1	G	A	12: 85,029,017 (GRCm39)	C154Y	probably damaging	Het
Frem2	T	C	3: 53,560,433 (GRCm39)	N1358S	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Gtf3c3	T	C	1: 54,445,229 (GRCm39)	I608M	probably benign	Het
Gzf1	G	A	2: 148,526,158 (GRCm39)	D210N	possibly damaging	Het
Ift140	C	T	17: 25,309,979 (GRCm39)	R1129C	probably damaging	Het
Lias	A	G	5: 65,551,315 (GRCm39)	I83V	possibly damaging	Het
Mlh3	T	C	12: 85,287,620 (GRCm39)	T1342A	possibly damaging	Het
Mn1	A	G	5: 111,567,263 (GRCm39)	Y411C	probably damaging	Het
Mrps21	C	T	3: 95,770,200 (GRCm39)	R43H	probably benign	Het
Ncam2	C	T	16: 81,240,054 (GRCm39)	Q172*	probably null	Het
Notch3	T	C	17: 32,362,501 (GRCm39)	T1375A	probably benign	Het
Oga	A	C	19: 45,753,919 (GRCm39)	S652A	possibly damaging	Het
Ovol3	T	A	7: 29,933,819 (GRCm39)	Y101F	probably benign	Het
Plec	T	C	15: 76,072,458 (GRCm39)	E709G	probably damaging	Het
Prcc	G	A	3: 87,777,191 (GRCm39)	T261I	probably damaging	Het
Psg25	A	G	7: 18,260,403 (GRCm39)	V165A	probably benign	Het
Rfk	C	T	19: 17,376,896 (GRCm39)	P133S	probably benign	Het
Scaf8	C	T	17: 3,218,383 (GRCm39)	T251M	unknown	Het
Sec14l2	T	C	11: 4,061,477 (GRCm39)	D67G	probably benign	Het
Smtnl1	A	G	2: 84,641,797 (GRCm39)	I441T	probably damaging	Het
Tbce	C	T	13: 14,173,019 (GRCm39)	V471I	possibly damaging	Het
Tnip1	G	A	11: 54,808,703 (GRCm39)	R495C	probably damaging	Het
Trbv19	A	G	6: 41,155,944 (GRCm39)	K105R	probably benign	Het
Ttc5	T	A	14: 51,010,744 (GRCm39)	N229I	probably damaging	Het
Ush2a	T	C	1: 188,689,521 (GRCm39)	F5028L	probably benign	Het
Vmn2r24	T	C	6: 123,792,691 (GRCm39)	S673P	probably damaging	Het
Zfp780b	A	T	7: 27,663,727 (GRCm39)	I276N	probably damaging	Het

Other mutations in Pcbp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01361:Pcbp4	APN	9	106,340,448 (GRCm39)	splice site	probably null
IGL01484:Pcbp4	APN	9	106,337,848 (GRCm39)	critical splice acceptor site	probably null
R1688:Pcbp4	UTSW	9	106,338,533 (GRCm39)	missense	probably damaging	1.00
R2211:Pcbp4	UTSW	9	106,337,933 (GRCm39)	missense	probably benign	0.28
R3894:Pcbp4	UTSW	9	106,338,570 (GRCm39)	missense	possibly damaging	0.82
R4729:Pcbp4	UTSW	9	106,337,929 (GRCm39)	missense	probably damaging	1.00
R4884:Pcbp4	UTSW	9	106,339,301 (GRCm39)	missense	probably benign	0.03
R5007:Pcbp4	UTSW	9	106,339,292 (GRCm39)	missense	probably damaging	1.00
R5112:Pcbp4	UTSW	9	106,337,917 (GRCm39)	missense	probably damaging	1.00
R6747:Pcbp4	UTSW	9	106,337,847 (GRCm39)	splice site	probably null
R8381:Pcbp4	UTSW	9	106,338,488 (GRCm39)	missense	probably damaging	1.00
R8717:Pcbp4	UTSW	9	106,337,202 (GRCm39)	critical splice acceptor site	probably null
R9590:Pcbp4	UTSW	9	106,340,400 (GRCm39)	missense	possibly damaging	0.94
X0027:Pcbp4	UTSW	9	106,339,782 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGATCTGACTGGACTGTCCTG -3'
(R):5'- CAGAAACTCCTGTGAGCTGG -3'

Sequencing Primer
(F):5'- ACTGTCCTGACGTGTCACAGTG -3'
(R):5'- AAACTCCTGTGAGCTGGTCTGTG -3'

Posted On

2017-07-14