Mutagenetix > Incidental Mutation

Incidental Mutation 'R4729:Pcbp4'

358688

Institutional Source

Beutler Lab

Gene Symbol

Pcbp4

Ensembl Gene

ENSMUSG00000023495

Gene Name

poly(rC) binding protein 4

Synonyms

AlphaCP-4, 1200003L19Rik

MMRRC Submission

041603-MU

Accession Numbers

Essential gene?

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

Stock #

R4729 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106330490-106341211 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106337929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 73 (F73S)

Ref Sequence

ENSEMBL: ENSMUSP00000024260 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000024260
AA Change: F73S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000024260
Gene: ENSMUSG00000023495
AA Change: F73S

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

SMART Domains

Protein: ENSMUSP00000140660
Gene: ENSMUSG00000023495

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000185779
AA Change: F73S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140629
Gene: ENSMUSG00000023495
AA Change: F73S

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: ENSMUST00000185831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185854

Predicted Effect

probably damaging
Transcript: ENSMUST00000185874
AA Change: F73S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141057
Gene: ENSMUSG00000023495
AA Change: F73S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189099
AA Change: F24S

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139991
Gene: ENSMUSG00000023495
AA Change: F24S

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

possibly damaging
Transcript: ENSMUST00000190430
AA Change: F73S

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140485
Gene: ENSMUSG00000023495
AA Change: F73S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190799

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185996

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188448

Predicted Effect

probably damaging
Transcript: ENSMUST00000214252
AA Change: F73S

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000213156

Predicted Effect

probably benign
Transcript: ENSMUST00000215656

Predicted Effect

probably benign
Transcript: ENSMUST00000188396

SMART Domains

Protein: ENSMUSP00000139771
Gene: ENSMUSG00000023495

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

probably benign
Transcript: ENSMUST00000213752

Predicted Effect

probably benign
Transcript: ENSMUST00000190428

SMART Domains

Protein: ENSMUSP00000139587
Gene: ENSMUSG00000023495

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: ENSMUST00000213201

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216379
AA Change: F73S

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217405

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,667,187 (GRCm39)	L220H	unknown	Het
Amt	T	A	9: 108,177,851 (GRCm39)	L272Q	probably damaging	Het
Ank2	G	C	3: 126,770,545 (GRCm39)	Y894*	probably null	Het
Ankzf1	T	A	1: 75,170,908 (GRCm39)	F105I	probably damaging	Het
Aox4	C	A	1: 58,298,236 (GRCm39)	Y1067*	probably null	Het
BC034090	T	A	1: 155,100,836 (GRCm39)	Q476L	probably damaging	Het
Bhmt	G	T	13: 93,763,871 (GRCm39)	R57S	probably damaging	Het
Cacna1c	A	T	6: 118,633,136 (GRCm39)	F964L	probably damaging	Het
Celsr3	A	C	9: 108,724,851 (GRCm39)	S396R	probably benign	Het
Cpne4	C	A	9: 104,799,755 (GRCm39)	Q191K	probably damaging	Het
Csnk1g2	T	C	10: 80,475,038 (GRCm39)	Y352H	probably benign	Het
D630003M21Rik	A	G	2: 158,058,623 (GRCm39)	S426P	probably damaging	Het
Dennd10	T	A	19: 60,823,309 (GRCm39)	F315I	probably benign	Het
Dido1	G	T	2: 180,329,443 (GRCm39)	N326K	probably benign	Het
E2f2	T	A	4: 135,911,760 (GRCm39)	I257N	probably damaging	Het
Elfn1	T	G	5: 139,959,413 (GRCm39)	F806V	probably damaging	Het
Eml6	T	A	11: 29,783,204 (GRCm39)	Y559F	probably damaging	Het
Erich6	A	G	3: 58,543,480 (GRCm39)		probably null	Het
Fam78a	T	C	2: 31,972,617 (GRCm39)	N101S	probably damaging	Het
Fam83h	A	G	15: 75,874,185 (GRCm39)	S1051P	probably benign	Het
Galns	C	T	8: 123,330,195 (GRCm39)	G112D	probably damaging	Het
Gm9923	A	G	10: 72,145,524 (GRCm39)	K125R	probably damaging	Het
Hectd3	G	A	4: 116,854,415 (GRCm39)	V326M	probably damaging	Het
Iars2	A	G	1: 185,048,248 (GRCm39)	S495P	possibly damaging	Het
Ice1	T	C	13: 70,754,503 (GRCm39)	R528G	probably damaging	Het
Igkv12-38	T	A	6: 69,920,368 (GRCm39)	Y50F	possibly damaging	Het
Inpp5j	T	C	11: 3,445,025 (GRCm39)	S883G	probably damaging	Het
Irf8	T	C	8: 121,480,178 (GRCm39)	S139P	probably damaging	Het
Itpr2	A	G	6: 146,274,671 (GRCm39)	F837S	probably damaging	Het
Kcnq4	G	T	4: 120,570,271 (GRCm39)	D357E	possibly damaging	Het
Klhl1	A	G	14: 96,517,584 (GRCm39)	L364P	probably damaging	Het
Krt7	A	G	15: 101,318,439 (GRCm39)	I309V	probably benign	Het
Krt76	G	T	15: 101,797,516 (GRCm39)	A281D	probably damaging	Het
Lancl2	T	C	6: 57,714,697 (GRCm39)	F430L	probably damaging	Het
Llgl2	T	C	11: 115,739,125 (GRCm39)	V332A	probably damaging	Het
Lrrc26	A	T	2: 25,180,076 (GRCm39)	T26S	probably benign	Het
Lrrk1	T	A	7: 65,912,041 (GRCm39)	M1840L	probably benign	Het
Lyst	G	A	13: 13,812,486 (GRCm39)	C966Y	probably damaging	Het
Mad1l1	T	A	5: 140,247,266 (GRCm39)	S354C	possibly damaging	Het
Mbtps1	C	T	8: 120,252,159 (GRCm39)	G577D	probably damaging	Het
Mycbp2	C	T	14: 103,426,027 (GRCm39)	R2366H	probably damaging	Het
Myo18a	T	G	11: 77,668,511 (GRCm39)		probably null	Het
Naip5	G	A	13: 100,358,639 (GRCm39)	R866C	possibly damaging	Het
Nav2	T	A	7: 49,102,567 (GRCm39)	V455E	probably benign	Het
Neb	A	G	2: 52,153,674 (GRCm39)	I2417T	possibly damaging	Het
Nme5	C	T	18: 34,702,890 (GRCm39)	A133T	probably benign	Het
Nradd	T	C	9: 110,450,979 (GRCm39)	D51G	possibly damaging	Het
Pard3b	A	G	1: 62,250,843 (GRCm39)	R591G	probably damaging	Het
Pcdhb11	C	T	18: 37,555,419 (GRCm39)	Q250*	probably null	Het
Pde1c	T	A	6: 56,049,194 (GRCm39)	K766N	probably damaging	Het
Phf21b	G	A	15: 84,738,942 (GRCm39)	Q40*	probably null	Het
Prr14	A	G	7: 127,073,868 (GRCm39)	D244G	probably benign	Het
Rab11fip5	C	T	6: 85,351,249 (GRCm39)	A88T	probably damaging	Het
Rad54l2	A	T	9: 106,593,317 (GRCm39)	S428T	probably benign	Het
Rdh9	A	G	10: 127,612,621 (GRCm39)	I90V	probably benign	Het
Rhag	G	T	17: 41,139,292 (GRCm39)	G76C	probably damaging	Het
Riok3	T	A	18: 12,261,984 (GRCm39)	V6E	possibly damaging	Het
Rnf7l	A	T	10: 63,257,244 (GRCm39)	V92E	probably damaging	Het
Scn10a	A	G	9: 119,500,592 (GRCm39)	I229T	probably damaging	Het
Slco1a1	G	T	6: 141,854,695 (GRCm39)	T652K	probably benign	Het
Slit1	T	A	19: 41,635,459 (GRCm39)	I345F	probably damaging	Het
Snrnp200	A	T	2: 127,074,857 (GRCm39)	I1477F	probably damaging	Het
Snx31	G	A	15: 36,523,698 (GRCm39)	T328I	possibly damaging	Het
Strn	A	G	17: 78,965,390 (GRCm39)	F634S	probably damaging	Het
Tmem101	C	T	11: 102,047,155 (GRCm39)	G6R	probably benign	Het
Tmem199	C	G	11: 78,399,506 (GRCm39)	G131R	probably benign	Het
Trim66	A	G	7: 109,055,267 (GRCm39)		probably null	Het
Ttn	G	T	2: 76,681,929 (GRCm39)		probably benign	Het
Upk3bl	T	C	5: 136,086,247 (GRCm39)	L61P	probably benign	Het
Vmn2r108	A	G	17: 20,692,632 (GRCm39)	Y75H	probably damaging	Het
Vmn2r91	T	A	17: 18,327,906 (GRCm39)	I500K	probably damaging	Het
Vps18	C	T	2: 119,124,272 (GRCm39)	R400C	probably damaging	Het
Zeb1	C	T	18: 5,767,286 (GRCm39)	P599L	probably damaging	Het
Zfhx4	G	T	3: 5,464,557 (GRCm39)	A1572S	probably damaging	Het
Zfp677	T	A	17: 21,617,680 (GRCm39)	C246S	possibly damaging	Het
Zfp719	T	A	7: 43,239,834 (GRCm39)	I474N	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
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
R6050:Pcbp4	UTSW	9	106,339,422 (GRCm39)	missense	probably benign	0.41
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'- TGAATGCCCAGAAGAATGGC -3'
(R):5'- TCAAGAACTTTCCTGAAGAGGG -3'

Sequencing Primer
(F):5'- CCCAGAAGAATGGCAGTTTCTAGTC -3'
(R):5'- CTTTCCTGAAGAGGGAGAAGG -3'

Posted On

2015-11-11