Mutagenetix > Incidental Mutation

Incidental Mutation 'R3894:Pcbp4'

310454

Institutional Source

Beutler Lab

Gene Symbol

Pcbp4

Ensembl Gene

ENSMUSG00000023495

Gene Name

poly(rC) binding protein 4

Synonyms

AlphaCP-4, 1200003L19Rik

Accession Numbers

Essential gene?

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

Stock #

R3894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106330490-106341211 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106338570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 59 (Q59L)

Ref Sequence

ENSEMBL: ENSMUSP00000140660 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024260
AA Change: Q165L

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

SMART Domains

Protein: ENSMUSP00000024260
Gene: ENSMUSG00000023495
AA Change: Q165L

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

possibly damaging
Transcript: ENSMUST00000185507
AA Change: Q59L

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140660
Gene: ENSMUSG00000023495
AA Change: Q59L

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: Q165L

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

SMART Domains

Protein: ENSMUSP00000140629
Gene: ENSMUSG00000023495
AA Change: Q165L

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

SMART Domains

Protein: ENSMUSP00000141057
Gene: ENSMUSG00000023495

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190428
AA Change: Q25L

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

SMART Domains

Protein: ENSMUSP00000139587
Gene: ENSMUSG00000023495
AA Change: Q25L

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

noncoding transcript
Transcript: ENSMUST00000189882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188448

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185996

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190799

Predicted Effect

probably benign
Transcript: ENSMUST00000215656
AA Change: Q126L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000213156
AA Change: Q58L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

unknown
Transcript: ENSMUST00000213201
AA Change: Q48L

Predicted Effect

unknown
Transcript: ENSMUST00000213752
AA Change: Q1L

Predicted Effect

probably benign
Transcript: ENSMUST00000214252

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: 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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000216379

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1s1	A	G	7: 44,503,363 (GRCm39)	D180G	probably damaging	Het
Aldh1a7	A	T	19: 20,673,762 (GRCm39)	Y457*	probably null	Het
Alpk3	C	T	7: 80,728,138 (GRCm39)	P423S	possibly damaging	Het
Aox1	A	T	1: 58,373,837 (GRCm39)		probably null	Het
Crebbp	T	C	16: 3,913,966 (GRCm39)	T1316A	probably benign	Het
Cul3	C	A	1: 80,261,407 (GRCm39)	V273F	probably damaging	Het
Dnah1	G	T	14: 31,028,985 (GRCm39)	R582S	probably benign	Het
Fbxl2	T	C	9: 113,832,261 (GRCm39)	N51S	probably damaging	Het
Gapvd1	T	C	2: 34,618,488 (GRCm39)	D295G	probably benign	Het
Gdf7	A	G	12: 8,348,845 (GRCm39)	S151P	unknown	Het
Gm10277	T	C	11: 77,676,827 (GRCm39)		probably benign	Het
Hdac4	T	C	1: 91,898,690 (GRCm39)	E688G	possibly damaging	Het
Htr1d	A	G	4: 136,170,548 (GRCm39)	E259G	probably benign	Het
Ifi204	T	C	1: 173,576,774 (GRCm39)	H609R	possibly damaging	Het
Ift80	T	C	3: 68,825,332 (GRCm39)	D541G	probably damaging	Het
Il18r1	A	T	1: 40,514,034 (GRCm39)	H80L	possibly damaging	Het
Lrp4	G	A	2: 91,304,294 (GRCm39)	G158S	probably damaging	Het
Mesd	T	A	7: 83,546,993 (GRCm39)	L152H	probably damaging	Het
Mmut	G	A	17: 41,266,030 (GRCm39)	C531Y	probably damaging	Het
Morf4l1	A	T	9: 89,976,501 (GRCm39)	F276I	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myo15a	A	G	11: 60,395,145 (GRCm39)	T2480A	probably benign	Het
Or2a52	A	T	6: 43,144,192 (GRCm39)	I67F	probably benign	Het
Or2y15	G	A	11: 49,350,766 (GRCm39)	G87R	possibly damaging	Het
Or4f47	T	C	2: 111,972,359 (GRCm39)	I23T	probably benign	Het
Or4g17	C	A	2: 111,209,982 (GRCm39)	F212L	probably benign	Het
Or5k16	A	G	16: 58,736,702 (GRCm39)	F101L	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Ovgp1	A	G	3: 105,893,912 (GRCm39)		probably benign	Het
Prg4	G	C	1: 150,330,510 (GRCm39)		probably benign	Het
Rad50	T	A	11: 53,569,697 (GRCm39)	I905L	probably benign	Het
Rp1l1	T	C	14: 64,266,756 (GRCm39)	S781P	probably benign	Het
Rps3	C	T	7: 99,129,103 (GRCm39)	R173H	probably benign	Het
Rtn3	T	A	19: 7,412,450 (GRCm39)	T86S	probably damaging	Het
Sdha	A	T	13: 74,482,510 (GRCm39)	S268T	probably benign	Het
Sgo2b	A	T	8: 64,381,767 (GRCm39)	V355E	possibly damaging	Het
Sh3glb2	T	C	2: 30,245,300 (GRCm39)	T60A	probably damaging	Het
Slc26a3	A	C	12: 31,514,719 (GRCm39)	Y513S	probably damaging	Het
Slc35b2	T	C	17: 45,877,368 (GRCm39)	V165A	probably benign	Het
Slco3a1	A	G	7: 73,934,361 (GRCm39)	W604R	probably damaging	Het
Tet2	A	G	3: 133,175,238 (GRCm39)	S1370P	possibly damaging	Het
Tmtc4	A	T	14: 123,158,731 (GRCm39)		probably null	Het
Tsga13	A	G	6: 30,889,198 (GRCm39)	V18A	probably benign	Het
Ugt2a3	T	C	5: 87,477,449 (GRCm39)	T317A	probably benign	Het
Zcchc4	A	T	5: 52,941,442 (GRCm39)	D79V	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
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
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

Posted On

2015-04-17