Mutagenetix > Incidental Mutation

Incidental Mutation 'R6747:Pcbp4'

543570

Institutional Source

Beutler Lab

Gene Symbol

Pcbp4

Ensembl Gene

ENSMUSG00000023495

Gene Name

poly(rC) binding protein 4

Synonyms

AlphaCP-4, 1200003L19Rik

MMRRC Submission

044864-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

R6747 (G1)

Quality Score

178.009

Status

Validated

Chromosome

Chromosomal Location

106330490-106341211 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 106337847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024260] [ENSMUST00000185779] [ENSMUST00000185874] [ENSMUST00000190430] [ENSMUST00000214252] [ENSMUST00000215656] [ENSMUST00000216379]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000024260

SMART Domains

Protein: ENSMUSP00000024260
Gene: ENSMUSG00000023495

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 null
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

probably null
Transcript: ENSMUST00000185874

SMART Domains

Protein: ENSMUSP00000141057
Gene: ENSMUSG00000023495

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

Predicted Effect

probably null
Transcript: ENSMUST00000190430

SMART Domains

Protein: ENSMUSP00000140485
Gene: ENSMUSG00000023495

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

Predicted Effect

probably null
Transcript: ENSMUST00000214252

Predicted Effect

probably benign
Transcript: ENSMUST00000215656

Predicted Effect

probably null
Transcript: ENSMUST00000216379

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

97% (68/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	T	3: 121,919,962 (GRCm39)		probably null	Het
Acyp1	C	T	12: 85,325,679 (GRCm39)	V107I	probably null	Het
Aftph	T	C	11: 20,676,144 (GRCm39)		probably null	Het
Agtpbp1	A	T	13: 59,692,167 (GRCm39)		probably null	Het
Arhgap15	C	A	2: 44,006,689 (GRCm39)	P269T	probably damaging	Het
Arhgap30	T	C	1: 171,235,297 (GRCm39)	V557A	probably damaging	Het
Asb3	T	A	11: 31,031,493 (GRCm39)	M410K	probably benign	Het
B4galnt2	T	C	11: 95,759,460 (GRCm39)		probably null	Het
Birc2	A	G	9: 7,860,262 (GRCm39)		probably null	Het
Cav2	A	T	6: 17,286,950 (GRCm39)	N69Y	probably damaging	Het
Cc2d2b	G	A	19: 40,784,111 (GRCm39)	C826Y	probably benign	Het
Cenpf	T	A	1: 189,385,051 (GRCm39)	T2410S	probably benign	Het
Chchd1	A	G	14: 20,753,448 (GRCm39)	D24G	probably benign	Het
Cmip	G	A	8: 118,163,618 (GRCm39)	G450S	probably benign	Het
Col11a1	C	T	3: 114,006,099 (GRCm39)	Q534*	probably null	Het
Col3a1	G	T	1: 45,377,782 (GRCm39)		probably benign	Het
Cox4i1	T	C	8: 121,399,969 (GRCm39)	I31T	possibly damaging	Het
Cstf3	G	T	2: 104,477,112 (GRCm39)	V168F	probably damaging	Het
Dapk1	T	C	13: 60,873,154 (GRCm39)	I352T	probably benign	Het
Ddx52	T	C	11: 83,846,128 (GRCm39)	V456A	probably damaging	Het
Dmxl2	A	T	9: 54,323,372 (GRCm39)	H1337Q	probably damaging	Het
Dnah7a	T	C	1: 53,675,221 (GRCm39)	T369A	probably benign	Het
Dppa1	T	A	11: 46,516,422 (GRCm39)	I8F	unknown	Het
Ebf1	G	T	11: 44,774,641 (GRCm39)	V213F	probably damaging	Het
Foxb2	C	A	19: 16,850,197 (GRCm39)	E270*	probably null	Het
Gclc	A	T	9: 77,695,527 (GRCm39)	R450W	probably damaging	Het
Grin2d	T	C	7: 45,511,692 (GRCm39)	E251G	probably damaging	Het
Hal	A	T	10: 93,336,539 (GRCm39)	N423Y	probably damaging	Het
Krtap4-8	T	A	11: 99,670,917 (GRCm39)	I185F	unknown	Het
Lrp3	T	A	7: 34,910,862 (GRCm39)	Q61L	probably benign	Het
Met	A	C	6: 17,571,466 (GRCm39)	Q1296H	probably damaging	Het
Mphosph9	T	A	5: 124,435,762 (GRCm39)	N557I	possibly damaging	Het
Mrpl46	C	A	7: 78,432,729 (GRCm39)	W16C	probably benign	Het
Myh13	G	A	11: 67,241,245 (GRCm39)	R874Q	probably damaging	Het
Nelfb	G	A	2: 25,093,393 (GRCm39)	T453I	probably benign	Het
Nos2	A	G	11: 78,843,780 (GRCm39)	D909G	probably damaging	Het
Nr5a2	T	C	1: 136,810,082 (GRCm39)	E431G	possibly damaging	Het
Nsmce2	A	G	15: 59,463,573 (GRCm39)	D149G	probably benign	Het
Or52b1	C	T	7: 104,979,234 (GRCm39)	R55H	probably benign	Het
Or5ac21	T	C	16: 59,124,004 (GRCm39)	F164L	probably benign	Het
Peg10	A	G	6: 4,757,137 (GRCm39)		probably benign	Het
Pms2	C	T	5: 143,862,237 (GRCm39)	P154L	probably benign	Het
Pou6f2	A	C	13: 18,303,772 (GRCm39)	L112R	probably benign	Het
Pramel30	T	C	4: 144,059,548 (GRCm39)	W420R	probably benign	Het
Prdm6	A	T	18: 53,598,118 (GRCm39)		probably benign	Het
Prob1	G	A	18: 35,788,207 (GRCm39)	R12W	probably damaging	Het
Rif1	T	A	2: 51,968,275 (GRCm39)		probably null	Het
Rpl9-ps6	A	G	19: 32,443,543 (GRCm39)	S137P	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Sec23ip	A	G	7: 128,354,573 (GRCm39)		silent	Het
Slc38a9	T	C	13: 112,826,714 (GRCm39)	C151R	probably benign	Het
Slc39a8	T	C	3: 135,554,941 (GRCm39)		probably null	Het
Slc6a18	C	A	13: 73,826,110 (GRCm39)		probably benign	Het
Snw1	T	C	12: 87,511,480 (GRCm39)	D57G	probably damaging	Het
Sox6	C	G	7: 115,140,966 (GRCm39)	R505P	probably damaging	Het
Speg	T	C	1: 75,387,039 (GRCm39)		probably null	Het
Spire2	C	T	8: 124,083,585 (GRCm39)	R190C	probably damaging	Het
Stard9	A	C	2: 120,528,864 (GRCm39)	H1707P	possibly damaging	Het
Tenm3	G	T	8: 48,796,278 (GRCm39)	T237K	probably damaging	Het
Themis2	T	A	4: 132,523,573 (GRCm39)	E31V	possibly damaging	Het
Trim56	T	G	5: 137,143,375 (GRCm39)	Q47P	probably damaging	Het
Trim58	T	C	11: 58,542,090 (GRCm39)	I350T	probably benign	Het
Ttll7	C	T	3: 146,649,811 (GRCm39)	P639S	probably benign	Het
Ubxn6	A	G	17: 56,377,650 (GRCm39)		probably null	Het
Vmn2r114	A	T	17: 23,528,850 (GRCm39)	F417L	probably benign	Het
Vmn2r29	T	A	7: 7,234,421 (GRCm39)	M822L	probably benign	Het
Vps9d1	T	C	8: 123,980,746 (GRCm39)	D27G	probably damaging	Het
Wdr3	C	T	3: 100,046,040 (GRCm39)	R931Q	probably damaging	Het
Whamm	G	A	7: 81,228,050 (GRCm39)		probably null	Het
Zcchc24	T	C	14: 25,757,457 (GRCm39)	H142R	probably damaging	Het
Zfp292	T	C	4: 34,806,894 (GRCm39)	K2050R	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
R6050:Pcbp4	UTSW	9	106,339,422 (GRCm39)	missense	probably benign	0.41
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'- ACTGTAAAGCGAATCCGGG -3'
(R):5'- GTCAGGTTTCTCACAGGCAG -3'

Sequencing Primer
(F):5'- CCCTGATGCTGAGGGTAGG -3'
(R):5'- GTTTCTCACAGGCAGCCACC -3'

Posted On

2019-03-08