Mutagenetix > Incidental Mutation

Incidental Mutation 'R0924:Pabpc4'

83064

Institutional Source

Beutler Lab

Gene Symbol

Pabpc4

Ensembl Gene

ENSMUSG00000011257

Gene Name

poly(A) binding protein, cytoplasmic 4

Synonyms

MMRRC Submission

039071-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0924 (G1)

Quality Score

148

Status

Validated

Chromosome

Chromosomal Location

123172722-123192718 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 123188458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 356 (R356C)

Ref Sequence

ENSEMBL: ENSMUSP00000101848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078734] [ENSMUST00000080178] [ENSMUST00000106241] [ENSMUST00000106243] [ENSMUST00000183940]

AlphaFold

Q6PHQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000078734
AA Change: R356C

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000077794
Gene: ENSMUSG00000011257
AA Change: R356C

Domain	Start	End	E-Value	Type
RRM	12	85	1.47e-21	SMART
RRM	100	171	2.91e-25	SMART
RRM	192	264	1.27e-25	SMART
RRM	295	366	2.54e-25	SMART
low complexity region	478	493	N/A	INTRINSIC
low complexity region	503	516	N/A	INTRINSIC
PolyA	534	597	4.49e-41	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080178
AA Change: R356C

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000079070
Gene: ENSMUSG00000011257
AA Change: R356C

Domain	Start	End	E-Value	Type
RRM	12	85	1.47e-21	SMART
RRM	100	171	2.91e-25	SMART
RRM	192	264	1.27e-25	SMART
RRM	295	366	2.54e-25	SMART
low complexity region	523	538	N/A	INTRINSIC
low complexity region	548	561	N/A	INTRINSIC
PolyA	579	642	4.49e-41	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082721

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083844

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106241
AA Change: R356C

PolyPhen 2 Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101848
Gene: ENSMUSG00000011257
AA Change: R356C

Domain	Start	End	E-Value	Type
RRM	12	85	1.47e-21	SMART
RRM	100	171	2.91e-25	SMART
RRM	192	264	1.27e-25	SMART
RRM	295	366	2.54e-25	SMART
low complexity region	507	522	N/A	INTRINSIC
low complexity region	532	545	N/A	INTRINSIC
PolyA	563	626	4.49e-41	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106243
AA Change: R356C

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101850
Gene: ENSMUSG00000011257
AA Change: R356C

Domain	Start	End	E-Value	Type
RRM	12	85	6.2e-24	SMART
RRM	100	171	1.2e-27	SMART
RRM	192	264	5.4e-28	SMART
RRM	295	366	1e-27	SMART
low complexity region	494	509	N/A	INTRINSIC
low complexity region	519	532	N/A	INTRINSIC
PolyA	550	613	2.1e-43	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146156

Predicted Effect

probably benign
Transcript: ENSMUST00000183940

SMART Domains

Protein: ENSMUSP00000139135
Gene: ENSMUSG00000011257

Domain	Start	End	E-Value	Type
RRM	12	85	1.47e-21	SMART
RRM	100	167	7.64e-20	SMART

Meta Mutation Damage Score

0.6638

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.7%
20x: 96.2%

Validation Efficiency

97% (69/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Poly(A)-binding proteins (PABPs) bind to the poly(A) tail present at the 3-prime ends of most eukaryotic mRNAs. PABPC4 or IPABP (inducible PABP) was isolated as an activation-induced T-cell mRNA encoding a protein. Activation of T cells increased PABPC4 mRNA levels in T cells approximately 5-fold. PABPC4 contains 4 RNA-binding domains and proline-rich C terminus. PABPC4 is localized primarily to the cytoplasm. It is suggested that PABPC4 might be necessary for regulation of stability of labile mRNA species in activated T cells. PABPC4 was also identified as an antigen, APP1 (activated-platelet protein-1), expressed on thrombin-activated rabbit platelets. PABPC4 may also be involved in the regulation of protein translation in platelets and megakaryocytes or may participate in the binding or stabilization of polyadenylates in platelet dense granules. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	A	T	8: 114,432,028 (GRCm39)		probably null	Het
Ahcyl2	A	C	6: 29,870,627 (GRCm39)		probably null	Het
Ajap1	T	A	4: 153,470,929 (GRCm39)	I293F	probably damaging	Het
Akap10	T	C	11: 61,795,689 (GRCm39)		probably benign	Het
Aldh3b2	T	C	19: 4,029,350 (GRCm39)	V241A	probably benign	Het
Anxa6	A	T	11: 54,885,214 (GRCm39)		probably null	Het
Atpaf1	T	A	4: 115,652,635 (GRCm39)	V12D	probably damaging	Het
Aurkb	C	A	11: 68,936,822 (GRCm39)	Y12*	probably null	Het
Bicdl1	A	G	5: 115,799,587 (GRCm39)		probably benign	Het
Bnc1	A	T	7: 81,628,156 (GRCm39)		probably benign	Het
Bpi	A	G	2: 158,103,346 (GRCm39)	I114V	possibly damaging	Het
Cacna1c	A	T	6: 118,652,857 (GRCm39)	I772N	probably damaging	Het
Cacna2d1	A	G	5: 16,570,860 (GRCm39)	N1045D	possibly damaging	Het
Ccrl2	A	G	9: 110,885,036 (GRCm39)	V154A	probably benign	Het
Celsr3	C	A	9: 108,723,224 (GRCm39)	Q2831K	possibly damaging	Het
Cplane1	T	C	15: 8,280,554 (GRCm39)		probably benign	Het
Cul3	A	T	1: 80,267,835 (GRCm39)	M102K	probably damaging	Het
Cwf19l2	T	C	9: 3,441,047 (GRCm39)		probably benign	Het
Dlg5	G	A	14: 24,185,645 (GRCm39)	P1920L	probably damaging	Het
Dnah2	T	C	11: 69,312,134 (GRCm39)	H4393R	probably damaging	Het
Eif2b3	T	A	4: 116,938,775 (GRCm39)	V408D	possibly damaging	Het
Eml3	T	C	19: 8,910,675 (GRCm39)		probably null	Het
Enpp2	T	C	15: 54,770,355 (GRCm39)		probably benign	Het
Fcgbpl1	A	T	7: 27,839,555 (GRCm39)	Y456F	probably damaging	Het
Gm14178	T	A	11: 99,638,326 (GRCm39)	T18S		Het
H2bc12	G	A	13: 22,220,210 (GRCm39)	D52N	probably damaging	Het
H2-M11	A	G	17: 36,860,106 (GRCm39)	M324V	probably benign	Het
H2-T13	A	T	17: 36,394,824 (GRCm39)	V33E	probably damaging	Het
Hdac10	T	C	15: 89,010,065 (GRCm39)	T298A	probably benign	Het
Hepacam	A	C	9: 37,295,224 (GRCm39)		probably benign	Het
Hmx3	A	T	7: 131,144,813 (GRCm39)	H41L	probably benign	Het
Ifi27l2a	A	G	12: 103,408,639 (GRCm39)	V68A	probably damaging	Het
Itga11	A	G	9: 62,683,956 (GRCm39)	E1079G	probably benign	Het
Krt6a	T	C	15: 101,599,235 (GRCm39)		probably benign	Het
L1td1	A	G	4: 98,625,862 (GRCm39)	N686D	probably damaging	Het
Lrrtm2	G	A	18: 35,346,808 (GRCm39)	R165C	probably damaging	Het
Macf1	G	T	4: 123,279,271 (GRCm39)	A3910E	probably damaging	Het
Muc5ac	A	T	7: 141,361,252 (GRCm39)	Y1521F	possibly damaging	Het
Myo7a	A	T	7: 97,747,463 (GRCm39)	I129N	probably damaging	Het
Ncam1	A	T	9: 49,473,476 (GRCm39)		probably benign	Het
Nckap1	A	T	2: 80,384,593 (GRCm39)	C114S	probably benign	Het
Nf1	T	G	11: 79,344,692 (GRCm39)	W1260G	probably damaging	Het
Or3a1d	T	C	11: 74,237,624 (GRCm39)	Y262C	probably damaging	Het
Or6b2b	A	G	1: 92,419,127 (GRCm39)	S117P	possibly damaging	Het
Or6c76b	A	T	10: 129,692,515 (GRCm39)	I43F	probably damaging	Het
Oxtr	A	T	6: 112,466,598 (GRCm39)		probably null	Het
Pcbp2	T	A	15: 102,398,197 (GRCm39)	D182E	probably damaging	Het
Pgm2	A	T	5: 64,269,490 (GRCm39)	I526F	possibly damaging	Het
Rab43	A	T	6: 87,769,752 (GRCm39)	Y151*	probably null	Het
Rbm19	A	G	5: 120,264,269 (GRCm39)	E343G	probably benign	Het
Rel	A	T	11: 23,692,439 (GRCm39)	D531E	probably benign	Het
Rfx4	T	A	10: 84,704,291 (GRCm39)	V262E	probably damaging	Het
Rnf31	T	C	14: 55,830,459 (GRCm39)		probably benign	Het
Robo3	T	A	9: 37,340,778 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,672,178 (GRCm39)	L1431P	probably damaging	Het
Sema3d	A	C	5: 12,513,183 (GRCm39)	D51A	possibly damaging	Het
Sema6a	A	G	18: 47,381,559 (GRCm39)	L996P	probably damaging	Het
Sh2d4a	T	A	8: 68,787,775 (GRCm39)	F294I	probably damaging	Het
Sorl1	T	A	9: 41,919,470 (GRCm39)		probably benign	Het
Sox1ot	G	T	8: 12,480,455 (GRCm39)		noncoding transcript	Het
Spsb3	A	T	17: 25,110,358 (GRCm39)	N395I	probably damaging	Het
Sptan1	A	G	2: 29,906,040 (GRCm39)	N1662S	probably damaging	Het
Srd5a2	G	T	17: 74,331,516 (GRCm39)	N160K	probably damaging	Het
Sting1	A	G	18: 35,868,154 (GRCm39)		probably null	Het
Tmem132d	G	A	5: 128,061,503 (GRCm39)		probably benign	Het
Unc80	A	T	1: 66,549,800 (GRCm39)	Q686L	possibly damaging	Het
Vmn2r93	A	G	17: 18,524,443 (GRCm39)	T146A	probably benign	Het
Wdr19	A	G	5: 65,413,782 (GRCm39)		probably benign	Het
Zfp646	C	T	7: 127,482,982 (GRCm39)	Q1500*	probably null	Het
Zfp683	T	C	4: 133,783,138 (GRCm39)	Y201H	probably benign	Het

Other mutations in Pabpc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Pabpc4	APN	4	123,180,497 (GRCm39)	missense	probably damaging	1.00
IGL00970:Pabpc4	APN	4	123,180,608 (GRCm39)	missense	probably damaging	1.00
IGL03093:Pabpc4	APN	4	123,180,502 (GRCm39)	missense	probably damaging	0.96
R0383:Pabpc4	UTSW	4	123,191,735 (GRCm39)	missense	probably damaging	1.00
R1076:Pabpc4	UTSW	4	123,186,701 (GRCm39)	missense	possibly damaging	0.74
R1381:Pabpc4	UTSW	4	123,182,852 (GRCm39)	missense	probably damaging	1.00
R1908:Pabpc4	UTSW	4	123,182,861 (GRCm39)	missense	possibly damaging	0.68
R1957:Pabpc4	UTSW	4	123,180,658 (GRCm39)	missense	probably damaging	1.00
R2324:Pabpc4	UTSW	4	123,191,571 (GRCm39)	splice site	probably benign
R2567:Pabpc4	UTSW	4	123,191,744 (GRCm39)	missense	probably damaging	1.00
R3768:Pabpc4	UTSW	4	123,188,405 (GRCm39)	missense	probably damaging	1.00
R4350:Pabpc4	UTSW	4	123,184,060 (GRCm39)	missense	probably damaging	1.00
R4352:Pabpc4	UTSW	4	123,184,060 (GRCm39)	missense	probably damaging	1.00
R4353:Pabpc4	UTSW	4	123,184,060 (GRCm39)	missense	probably damaging	1.00
R5304:Pabpc4	UTSW	4	123,184,100 (GRCm39)	missense	probably benign	0.43
R5386:Pabpc4	UTSW	4	123,188,790 (GRCm39)	missense	probably benign	0.15
R5622:Pabpc4	UTSW	4	123,185,524 (GRCm39)	critical splice acceptor site	probably null
R6853:Pabpc4	UTSW	4	123,188,536 (GRCm39)	missense	possibly damaging	0.60
R7558:Pabpc4	UTSW	4	123,188,413 (GRCm39)	missense	possibly damaging	0.94
R7602:Pabpc4	UTSW	4	123,186,685 (GRCm39)	missense	possibly damaging	0.59
R7631:Pabpc4	UTSW	4	123,182,763 (GRCm39)	missense	probably damaging	0.96
R7714:Pabpc4	UTSW	4	123,189,102 (GRCm39)	missense	probably benign
R7935:Pabpc4	UTSW	4	123,191,837 (GRCm39)	missense	probably benign	0.13
R7951:Pabpc4	UTSW	4	123,177,532 (GRCm39)	missense	probably damaging	0.99
R8074:Pabpc4	UTSW	4	123,180,508 (GRCm39)	missense	probably benign
R8353:Pabpc4	UTSW	4	123,189,846 (GRCm39)	missense	probably benign	0.01
R9562:Pabpc4	UTSW	4	123,180,653 (GRCm39)	missense	probably damaging	1.00
R9565:Pabpc4	UTSW	4	123,180,653 (GRCm39)	missense	probably damaging	1.00
R9672:Pabpc4	UTSW	4	123,184,133 (GRCm39)	critical splice donor site	probably null
Z1176:Pabpc4	UTSW	4	123,189,067 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGTAACTGCCTCCCAATGACATCC -3'
(R):5'- AGTCCCCGAAATGCCTCTACTCAG -3'

Sequencing Primer
(F):5'- ATGACATCCCAGTCATTGACTTG -3'
(R):5'- TAGCAGACCCACCTGCG -3'

Posted On

2013-11-08