Mutagenetix > Incidental Mutation

Incidental Mutation 'R5304:Pabpc4'

404413

Institutional Source

Beutler Lab

Gene Symbol

Pabpc4

Ensembl Gene

ENSMUSG00000011257

Gene Name

poly(A) binding protein, cytoplasmic 4

Synonyms

MMRRC Submission

042887-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5304 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123172722-123192718 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 123184100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 204 (D204E)

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: D204E

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000077794
Gene: ENSMUSG00000011257
AA Change: D204E

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

probably benign
Transcript: ENSMUST00000080178
AA Change: D204E

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000079070
Gene: ENSMUSG00000011257
AA Change: D204E

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

probably benign
Transcript: ENSMUST00000106241
AA Change: D204E

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101848
Gene: ENSMUSG00000011257
AA Change: D204E

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

probably benign
Transcript: ENSMUST00000106243
AA Change: D204E

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101850
Gene: ENSMUSG00000011257
AA Change: D204E

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: ENSMUST00000156807

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

0.0632

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (87/88)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	C	T	11: 7,014,198 (GRCm39)	A200V	probably benign	Het
Adgrv1	T	C	13: 81,726,372 (GRCm39)	D551G	possibly damaging	Het
Aldh3a2	A	G	11: 61,144,538 (GRCm39)	V340A	probably damaging	Het
Amy1	C	A	3: 113,352,013 (GRCm39)	C393F	probably damaging	Het
Ankrd16	T	C	2: 11,794,545 (GRCm39)	V310A	probably benign	Het
Arhgef15	T	C	11: 68,838,063 (GRCm39)	S686G	probably null	Het
Arid4b	T	A	13: 14,361,514 (GRCm39)	N659K	probably benign	Het
Asz1	C	T	6: 18,076,619 (GRCm39)	R191Q	probably benign	Het
Atp2a3	A	G	11: 72,879,383 (GRCm39)	I947V	probably damaging	Het
AW011738	G	A	4: 156,287,969 (GRCm39)		probably benign	Het
Bfsp1	G	T	2: 143,669,211 (GRCm39)	T456K	probably benign	Het
Cdc25c	T	C	18: 34,883,864 (GRCm39)	T40A	possibly damaging	Het
Cdh20	G	A	1: 110,036,569 (GRCm39)	C583Y	probably damaging	Het
Ceacam23	A	C	7: 17,636,617 (GRCm39)	E231D	probably benign	Het
Cfap54	A	T	10: 92,656,968 (GRCm39)	L3028Q	probably damaging	Het
Chd1	A	G	17: 15,975,213 (GRCm39)	S1088G	probably benign	Het
Chd1	A	T	17: 15,990,530 (GRCm39)	H1694L	possibly damaging	Het
Cstf3	G	T	2: 104,493,735 (GRCm39)	E580*	probably null	Het
Dip2a	A	T	10: 76,130,357 (GRCm39)	M622K	possibly damaging	Het
Dlgap1	A	T	17: 71,122,202 (GRCm39)	H877L	probably damaging	Het
Egfr	G	T	11: 16,834,260 (GRCm39)	M122I	probably benign	Het
Etfbkmt	T	A	6: 149,048,704 (GRCm39)	D114E	probably damaging	Het
Eva1c	T	C	16: 90,666,551 (GRCm39)	L158P	probably damaging	Het
Exo1	G	A	1: 175,720,542 (GRCm39)	V287M	probably damaging	Het
Fam171a1	T	C	2: 3,226,654 (GRCm39)	Y471H	probably damaging	Het
Fermt1	T	A	2: 132,783,986 (GRCm39)	T8S	probably benign	Het
Fgfr2	G	T	7: 129,769,504 (GRCm39)	P630T	probably damaging	Het
Fmo5	G	A	3: 97,558,938 (GRCm39)	G466E	probably damaging	Het
Hcn4	A	G	9: 58,751,215 (GRCm39)	I280M	probably benign	Het
Ifi208	A	C	1: 173,511,174 (GRCm39)	K443T	probably benign	Het
Irs3	A	G	5: 137,643,003 (GRCm39)	F145S	probably benign	Het
Kirrel1	T	A	3: 86,996,902 (GRCm39)	H300L	probably benign	Het
Krit1	A	G	5: 3,869,326 (GRCm39)	Q340R	probably damaging	Het
Lipo5	T	C	19: 33,445,149 (GRCm39)	D140G	unknown	Het
Lrrtm4	A	T	6: 79,999,683 (GRCm39)	Q365L	probably benign	Het
Lrwd1	G	T	5: 136,160,004 (GRCm39)	T353K	possibly damaging	Het
Lsm14a	A	T	7: 34,053,154 (GRCm39)	S240R	possibly damaging	Het
Map3k5	A	G	10: 19,983,984 (GRCm39)	I870V	probably benign	Het
Matcap2	A	T	9: 22,335,528 (GRCm39)	T49S	probably benign	Het
Mmp17	A	T	5: 129,671,678 (GRCm39)	E76V	probably null	Het
Mphosph10	A	G	7: 64,038,732 (GRCm39)	F272L	probably damaging	Het
Mtcl2	G	A	2: 156,865,737 (GRCm39)	Q1127*	probably null	Het
Myh10	A	G	11: 68,655,071 (GRCm39)	K380R	probably damaging	Het
Myo3b	C	T	2: 70,257,232 (GRCm39)	P1282L	probably damaging	Het
Nemp2	T	C	1: 52,682,238 (GRCm39)		probably benign	Het
Ola1	T	C	2: 73,029,778 (GRCm39)	I114V	probably damaging	Het
Or4c3d	T	A	2: 89,882,257 (GRCm39)	H137L	probably benign	Het
Or8k28	T	A	2: 86,285,779 (GRCm39)	T279S	probably damaging	Het
Pigr	A	T	1: 130,777,230 (GRCm39)	M679L	probably benign	Het
Pik3c2b	A	T	1: 132,998,146 (GRCm39)	M341L	possibly damaging	Het
Plin4	T	A	17: 56,413,132 (GRCm39)	T498S	probably benign	Het
Ppp2r5e	A	G	12: 75,562,459 (GRCm39)	S15P	possibly damaging	Het
Prdm13	T	C	4: 21,678,984 (GRCm39)	Y502C	probably damaging	Het
Ptprk	T	C	10: 28,468,050 (GRCm39)		probably null	Het
Rapgef6	T	C	11: 54,548,200 (GRCm39)	S505P	probably benign	Het
Rgmb	G	T	17: 16,040,990 (GRCm39)	S199*	probably null	Het
Rgsl1	T	C	1: 153,703,238 (GRCm39)	T173A	probably damaging	Het
Rhobtb1	G	T	10: 69,105,742 (GRCm39)	K102N	probably damaging	Het
Ripor2	A	T	13: 24,858,649 (GRCm39)	D147V	probably damaging	Het
Rsad2	A	T	12: 26,500,681 (GRCm39)	V202E	probably damaging	Het
Slc1a6	A	G	10: 78,629,141 (GRCm39)	N186S	probably damaging	Het
Sorbs3	G	A	14: 70,422,345 (GRCm39)	R622*	probably null	Het
Spag9	C	A	11: 93,959,838 (GRCm39)	D342E	probably damaging	Het
Srgap3	T	C	6: 112,743,900 (GRCm39)	Y446C	probably damaging	Het
Thsd7b	C	T	1: 129,605,980 (GRCm39)	R574*	probably null	Het
Tmem74	A	T	15: 43,730,217 (GRCm39)	Y275*	probably null	Het
Topors	A	T	4: 40,262,541 (GRCm39)	S248T	possibly damaging	Het
Trpm1	A	T	7: 63,858,694 (GRCm39)	Y239F	probably benign	Het
Ttn	T	A	2: 76,548,527 (GRCm39)	Y30179F	possibly damaging	Het
Ugt2b34	A	T	5: 87,040,724 (GRCm39)	F399L	probably damaging	Het
Ush2a	A	T	1: 188,088,995 (GRCm39)	I317F	probably damaging	Het
Usp1	T	C	4: 98,822,855 (GRCm39)	V723A	probably benign	Het
Usp34	T	G	11: 23,293,616 (GRCm39)	L237V	probably damaging	Het
Vgf	A	T	5: 137,061,140 (GRCm39)	D434V	probably damaging	Het
Vmn1r179	A	G	7: 23,628,100 (GRCm39)	N97S	probably benign	Het
Vps13a	A	G	19: 16,687,751 (GRCm39)	L899P	possibly damaging	Het
Vps33b	A	T	7: 79,924,001 (GRCm39)	I41F	probably damaging	Het
Zap70	A	T	1: 36,817,299 (GRCm39)	H210L	probably damaging	Het
Zc3h8	T	C	2: 128,770,835 (GRCm39)	D300G	probably benign	Het
Zfp958	C	A	8: 4,676,196 (GRCm39)	H55N	possibly damaging	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
R0924:Pabpc4	UTSW	4	123,188,458 (GRCm39)	missense	possibly damaging	0.56
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
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'- AATCTGCATTCCTTTGGGCC -3'
(R):5'- AAGGCCTGGACTCAATATCCAC -3'

Sequencing Primer
(F):5'- CCCCGGAAATCGTGTTCTG -3'
(R):5'- AAGAGGGCGTCAGATCTCCTTAC -3'

Posted On

2016-07-22