Mutagenetix > Incidental Mutation

Incidental Mutation 'R2211:Pcbp4'

239385

Institutional Source

Beutler Lab

Gene Symbol

Pcbp4

Ensembl Gene

ENSMUSG00000023495

Gene Name

poly(rC) binding protein 4

Synonyms

1200003L19Rik, AlphaCP-4

MMRRC Submission

040213-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R2211 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106453291-106464012 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106460734 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 74 (H74Q)

Ref Sequence

ENSEMBL: ENSMUSP00000024260 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024260
AA Change: H74Q

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000024260
Gene: ENSMUSG00000023495
AA Change: H74Q

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 benign
Transcript: ENSMUST00000185779
AA Change: H74Q

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000140629
Gene: ENSMUSG00000023495
AA Change: H74Q

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 benign
Transcript: ENSMUST00000185874
AA Change: H74Q

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000141057
Gene: ENSMUSG00000023495
AA Change: H74Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185996

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186519

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

noncoding transcript
Transcript: ENSMUST00000188448

Predicted Effect

probably benign
Transcript: ENSMUST00000189099
AA Change: H25Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139991
Gene: ENSMUSG00000023495
AA Change: H25Q

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

probably benign
Transcript: ENSMUST00000190430
AA Change: H74Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000140485
Gene: ENSMUSG00000023495
AA Change: H74Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190799

Predicted Effect

probably benign
Transcript: ENSMUST00000216379
AA Change: H74Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000214252
AA Change: H74Q

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217405

Predicted Effect

probably benign
Transcript: ENSMUST00000213156

Predicted Effect

probably benign
Transcript: ENSMUST00000215656

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

probably benign
Transcript: ENSMUST00000213752

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	T	C	8: 3,387,680	S268P	possibly damaging	Het
Adam18	A	G	8: 24,628,155	S34P	probably damaging	Het
Adam23	T	A	1: 63,573,129		probably benign	Het
Adcy10	A	T	1: 165,518,212	I277F	probably damaging	Het
Arfgef3	A	T	10: 18,592,245	S1736T	possibly damaging	Het
Arhgap21	A	T	2: 20,881,640	M242K	possibly damaging	Het
Astn1	A	G	1: 158,657,306	R4G	probably benign	Het
AU041133	G	A	10: 82,150,921	C135Y	probably damaging	Het
Cdc42bpb	A	G	12: 111,301,854	V53A	probably benign	Het
Cdh23	T	C	10: 60,466,004	D428G	possibly damaging	Het
Cebpa	T	C	7: 35,120,466	S350P	probably damaging	Het
Cftr	A	G	6: 18,214,280	M152V	probably null	Het
Cpa4	A	G	6: 30,583,650	N255S	possibly damaging	Het
Ddx51	T	A	5: 110,655,768	D343E	probably damaging	Het
Dnah7a	T	C	1: 53,479,773	I2942V	probably benign	Het
Dnajc1	G	T	2: 18,392,475	A9E	probably damaging	Het
Dpysl5	G	A	5: 30,791,597	D399N	probably damaging	Het
Edem3	A	G	1: 151,804,702	D526G	possibly damaging	Het
Emc10	G	A	7: 44,493,192	R109W	probably damaging	Het
Etaa1	G	A	11: 17,952,686	Q84*	probably null	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam149a	G	A	8: 45,341,009	T674I	probably damaging	Het
Fam98a	A	G	17: 75,538,945		probably null	Het
Fat4	A	G	3: 38,891,527	N1523S	possibly damaging	Het
Fbxw10	A	G	11: 62,867,535	T529A	probably damaging	Het
Gzf1	C	T	2: 148,684,950	A447V	probably damaging	Het
Hap1	G	A	11: 100,354,724	T138M	probably benign	Het
Hic1	T	A	11: 75,169,384	R46W	possibly damaging	Het
Id4	T	A	13: 48,261,802	L102Q	probably damaging	Het
Il3ra	T	C	14: 14,355,029	C271R	probably benign	Het
Ints4	T	C	7: 97,509,750	I443T	possibly damaging	Het
Lmln	A	G	16: 33,109,778	E535G	probably benign	Het
Lrrtm4	A	G	6: 80,022,640	H345R	probably benign	Het
Ltbp3	T	C	19: 5,753,962	I834T	possibly damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Mpp5	A	T	12: 78,797,248	K75N	possibly damaging	Het
Ms4a18	C	A	19: 10,997,305	V341L	probably benign	Het
Nbr1	T	C	11: 101,567,264		probably null	Het
Nf1	T	C	11: 79,444,064	M914T	probably benign	Het
Notch3	T	A	17: 32,147,978	H861L	probably benign	Het
Nupl1	A	G	14: 60,232,640	F341L	probably damaging	Het
Ogfod2	C	A	5: 124,112,780		probably null	Het
Oit3	T	C	10: 59,428,070	D414G	probably damaging	Het
Olfr1079	T	C	2: 86,538,513	Y132C	probably damaging	Het
Olfr1497	T	A	19: 13,795,369	M81L	probably benign	Het
Olfr787	A	T	10: 129,462,940	K88M	probably damaging	Het
Olfr804	A	G	10: 129,705,451	H191R	probably benign	Het
Pip5k1b	A	T	19: 24,378,850	D241E	probably damaging	Het
Plcb2	T	C	2: 118,723,534	D102G	probably benign	Het
Plekha5	G	A	6: 140,525,861	E4K	possibly damaging	Het
Ppargc1a	A	C	5: 51,474,259	S343A	possibly damaging	Het
Ppwd1	G	A	13: 104,207,142	S585L	probably benign	Het
Rarg	T	C	15: 102,239,524	N284S	probably benign	Het
Rnpepl1	C	T	1: 92,916,380	L278F	probably damaging	Het
Rp1	A	C	1: 4,348,139	S917A	probably damaging	Het
Rsf1	ATGGCG	ATGGCGAGGGTGGCG	7: 97,579,904		probably benign	Het
Rsph3b	T	C	17: 6,941,740	S189G	probably benign	Het
Sec31b	A	T	19: 44,523,150	L604Q	probably damaging	Het
Sema6b	T	A	17: 56,124,741	I641F	probably benign	Het
Slc35f5	A	T	1: 125,579,264	I309F	possibly damaging	Het
Smarca4	A	G	9: 21,686,029	E1360G	probably damaging	Het
Spata31d1c	T	C	13: 65,035,939	S432P	probably benign	Het
Spsb3	T	C	17: 24,890,937		probably null	Het
Sptbn4	T	C	7: 27,367,609	D1960G	probably damaging	Het
Srgap1	A	G	10: 121,853,740	V345A	possibly damaging	Het
Tiam2	C	A	17: 3,414,918	C307*	probably null	Het
Trim43b	T	A	9: 89,085,249	T444S	possibly damaging	Het
Trmt13	A	G	3: 116,594,754	I11T	probably benign	Het
Ylpm1	A	T	12: 85,044,378	R1073*	probably null	Het
Zfp524	T	C	7: 5,017,919	S149P	probably damaging	Het
Zfp777	T	C	6: 48,043,885	I312V	possibly damaging	Het

Other mutations in Pcbp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01361:Pcbp4	APN	9	106463249	splice site	probably null
IGL01484:Pcbp4	APN	9	106460649	critical splice acceptor site	probably null
R1688:Pcbp4	UTSW	9	106461334	missense	probably damaging	1.00
R3894:Pcbp4	UTSW	9	106461371	missense	possibly damaging	0.82
R4729:Pcbp4	UTSW	9	106460730	missense	probably damaging	1.00
R4884:Pcbp4	UTSW	9	106462102	missense	probably benign	0.03
R5007:Pcbp4	UTSW	9	106462093	missense	probably damaging	1.00
R5112:Pcbp4	UTSW	9	106460718	missense	probably damaging	1.00
R6050:Pcbp4	UTSW	9	106462223	missense	probably benign	0.41
R6747:Pcbp4	UTSW	9	106460648	splice site	probably null
R8381:Pcbp4	UTSW	9	106461289	missense	probably damaging	1.00
R8717:Pcbp4	UTSW	9	106460003	critical splice acceptor site	probably null
R9590:Pcbp4	UTSW	9	106463201	missense	possibly damaging	0.94
X0027:Pcbp4	UTSW	9	106462583	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCCAGAAGAATGGCAGTTTC -3'
(R):5'- TCCCTCAAGAACTTTCCTGAAGAG -3'

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

Posted On

2014-10-15