Mutagenetix > Incidental Mutation

Incidental Mutation 'R1957:Pabpc4'

217896

Institutional Source

Beutler Lab

Gene Symbol

Pabpc4

Ensembl Gene

ENSMUSG00000011257

Gene Name

poly(A) binding protein, cytoplasmic 4

Synonyms

MMRRC Submission

039971-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1957 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123172722-123192718 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123180658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 127 (S127T)

Ref Sequence

ENSEMBL: ENSMUSP00000101850 (fasta)

Gene Model

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

AlphaFold

Q6PHQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000078734
AA Change: S127T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077794
Gene: ENSMUSG00000011257
AA Change: S127T

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 damaging
Transcript: ENSMUST00000080178
AA Change: S127T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079070
Gene: ENSMUSG00000011257
AA Change: S127T

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

probably damaging
Transcript: ENSMUST00000106241
AA Change: S127T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101848
Gene: ENSMUSG00000011257
AA Change: S127T

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 damaging
Transcript: ENSMUST00000106243
AA Change: S127T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101850
Gene: ENSMUSG00000011257
AA Change: S127T

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: ENSMUST00000156807

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183940
AA Change: S127T

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139135
Gene: ENSMUSG00000011257
AA Change: S127T

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

Meta Mutation Damage Score

0.5826

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

97% (117/121)

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	C	T	15: 102,247,068 (GRCm39)		probably benign	Het
Aadacl4fm5	G	A	4: 144,504,389 (GRCm39)	T254I	possibly damaging	Het
Abce1	A	G	8: 80,412,578 (GRCm39)	I583T	probably benign	Het
Abtb3	T	C	10: 85,469,563 (GRCm39)	L828P	probably damaging	Het
Adcy1	A	T	11: 7,111,945 (GRCm39)	T937S	probably benign	Het
Adgra2	A	G	8: 27,601,196 (GRCm39)	I279V	possibly damaging	Het
Adgrl4	A	T	3: 151,216,416 (GRCm39)	N533I	possibly damaging	Het
Adipor1	T	C	1: 134,350,771 (GRCm39)	S7P	probably benign	Het
Amelx	A	T	X: 167,965,153 (GRCm39)		probably null	Het
Anks1b	A	T	10: 89,885,792 (GRCm39)	T163S	probably damaging	Het
Apc	A	G	18: 34,450,388 (GRCm39)	E2394G	probably damaging	Het
Arhgef39	C	T	4: 43,499,309 (GRCm39)	G56E	probably damaging	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
Arsj	A	G	3: 126,232,670 (GRCm39)	N472S	probably benign	Het
Atg2b	T	C	12: 105,635,677 (GRCm39)	Y197C	probably damaging	Het
B3gat1	A	T	9: 26,667,248 (GRCm39)	D160V	possibly damaging	Het
Bmp7	T	C	2: 172,781,714 (GRCm39)	E50G	probably damaging	Het
Bms1	T	C	6: 118,369,939 (GRCm39)	E869G	probably damaging	Het
Brd4	G	A	17: 32,440,340 (GRCm39)	P332L	possibly damaging	Het
C130074G19Rik	T	C	1: 184,615,095 (GRCm39)	T32A	probably benign	Het
C1rl	A	T	6: 124,486,021 (GRCm39)	Y464F	probably damaging	Het
Ccdc150	T	A	1: 54,303,068 (GRCm39)	M193K	probably benign	Het
Ccdc7a	A	G	8: 129,706,616 (GRCm39)	S338P	probably damaging	Het
Cenpu	T	C	8: 47,025,872 (GRCm39)		probably benign	Het
Cep170	A	C	1: 176,597,013 (GRCm39)	V448G	probably benign	Het
Col27a1	G	T	4: 63,196,031 (GRCm39)	A879S	probably benign	Het
Crtac1	C	T	19: 42,276,383 (GRCm39)	S515N	possibly damaging	Het
Cstad	G	A	2: 30,498,293 (GRCm39)	V43M	unknown	Het
Daam1	T	C	12: 72,029,529 (GRCm39)		probably null	Het
Dnmt1	C	T	9: 20,838,442 (GRCm39)	R207H	probably benign	Het
Dsg3	A	G	18: 20,655,162 (GRCm39)	N153S	probably damaging	Het
Dzip3	C	A	16: 48,747,956 (GRCm39)	L1151F	probably damaging	Het
Eml5	A	T	12: 98,826,220 (GRCm39)	H644Q	probably damaging	Het
Emsy	A	G	7: 98,297,027 (GRCm39)	L52P	probably damaging	Het
Eno1	T	A	4: 150,331,232 (GRCm39)		probably null	Het
Epha3	T	A	16: 63,593,315 (GRCm39)	T258S	probably benign	Het
Ern1	T	C	11: 106,317,723 (GRCm39)	T134A	probably damaging	Het
Fam151b	G	T	13: 92,614,410 (GRCm39)	T26K	probably damaging	Het
Fam151b	T	A	13: 92,614,411 (GRCm39)	T26S	probably damaging	Het
Fat1	T	C	8: 45,493,719 (GRCm39)	V3955A	probably damaging	Het
Fbn1	T	C	2: 125,209,574 (GRCm39)	N930S	possibly damaging	Het
Fgr	A	G	4: 132,725,673 (GRCm39)	M361V	probably benign	Het
Fmo4	G	A	1: 162,631,259 (GRCm39)	T236I	probably benign	Het
Fndc7	G	A	3: 108,790,825 (GRCm39)	T67I	probably damaging	Het
Fxr2	A	G	11: 69,534,766 (GRCm39)	T216A	probably benign	Het
Gdf10	G	A	14: 33,654,710 (GRCm39)	A406T	probably benign	Het
Gm42669	A	T	5: 107,656,738 (GRCm39)	E355D	possibly damaging	Het
Gm5174	A	T	10: 86,492,617 (GRCm39)		noncoding transcript	Het
Gm5431	A	T	11: 48,779,224 (GRCm39)	L844*	probably null	Het
Gm6489	T	C	1: 31,326,452 (GRCm39)		noncoding transcript	Het
Gna11	A	G	10: 81,366,678 (GRCm39)	V344A	probably damaging	Het
Gtpbp3	A	G	8: 71,943,099 (GRCm39)	E170G	probably damaging	Het
H2az1	A	C	3: 137,571,275 (GRCm39)		probably benign	Het
Heatr1	A	G	13: 12,411,419 (GRCm39)	N87D	probably damaging	Het
Iars2	T	C	1: 185,027,868 (GRCm39)	K687E	possibly damaging	Het
Ica1	T	C	6: 8,749,736 (GRCm39)	D71G	possibly damaging	Het
Ifnlr1	T	C	4: 135,413,881 (GRCm39)	L10P	probably damaging	Het
Il1r1	T	A	1: 40,352,300 (GRCm39)	L490*	probably null	Het
Ip6k3	A	T	17: 27,370,142 (GRCm39)	L92Q	probably benign	Het
Itgbl1	T	A	14: 124,204,090 (GRCm39)	F394I	probably damaging	Het
Kat6b	T	C	14: 21,678,947 (GRCm39)	Y437H	probably damaging	Het
Kcnh5	G	C	12: 74,944,358 (GRCm39)	Q964E	probably benign	Het
Krt27	A	T	11: 99,237,309 (GRCm39)		probably null	Het
Mki67	A	T	7: 135,300,128 (GRCm39)	D1635E	probably benign	Het
Mmp23	G	T	4: 155,736,509 (GRCm39)	H177Q	possibly damaging	Het
Myef2l	G	T	3: 10,154,346 (GRCm39)	V372F	probably benign	Het
Mylk2	C	A	2: 152,759,527 (GRCm39)	Q406K	possibly damaging	Het
Myo1g	A	G	11: 6,462,159 (GRCm39)		probably null	Het
Myrf	T	C	19: 10,197,160 (GRCm39)	T261A	probably benign	Het
Nmt2	C	T	2: 3,326,419 (GRCm39)	P486L	possibly damaging	Het
Oard1	T	A	17: 48,722,304 (GRCm39)	L100*	probably null	Het
Oca2	T	C	7: 55,971,246 (GRCm39)	I391T	possibly damaging	Het
Or51v14	T	A	7: 103,260,618 (GRCm39)	*314L	probably null	Het
Or5k17	T	A	16: 58,746,530 (GRCm39)	M135L	probably benign	Het
Or5p64	A	C	7: 107,854,403 (GRCm39)	L314*	probably null	Het
Or6c68	A	T	10: 129,157,740 (GRCm39)	I83F	possibly damaging	Het
Or8b39	T	A	9: 37,996,419 (GRCm39)	C96S	probably damaging	Het
Or9k2b	C	A	10: 130,015,847 (GRCm39)	A301S	possibly damaging	Het
Pcdhb1	A	G	18: 37,398,760 (GRCm39)	D237G	probably damaging	Het
Pdcd6ip	T	C	9: 113,537,090 (GRCm39)	Y29C	probably damaging	Het
Phf3	C	A	1: 30,870,601 (GRCm39)	R95L	probably damaging	Het
Pkd1l2	A	T	8: 117,757,421 (GRCm39)	V1539D	probably damaging	Het
Plxna1	A	T	6: 89,308,273 (GRCm39)	D1271E	probably damaging	Het
Ppp3r2	A	G	4: 49,681,726 (GRCm39)	F75L	probably damaging	Het
Pth2r	C	A	1: 65,411,514 (GRCm39)	D350E	probably damaging	Het
Rabgap1	T	C	2: 37,373,774 (GRCm39)	F262S	possibly damaging	Het
Rbbp6	T	C	7: 122,589,511 (GRCm39)	S438P	probably benign	Het
Rexo1	G	A	10: 80,379,200 (GRCm39)	R1038C	probably damaging	Het
Rnf10	A	G	5: 115,398,381 (GRCm39)		probably benign	Het
Scyl1	C	A	19: 5,810,132 (GRCm39)	A565S	probably benign	Het
Septin4	A	G	11: 87,481,193 (GRCm39)	T378A	probably benign	Het
Sh3yl1	A	G	12: 30,992,787 (GRCm39)		probably null	Het
Slc1a7	G	T	4: 107,825,782 (GRCm39)	D14Y	probably benign	Het
Slc32a1	T	C	2: 158,455,963 (GRCm39)	V206A	probably damaging	Het
Smyd5	G	A	6: 85,415,121 (GRCm39)	R43Q	probably benign	Het
Snrnp200	G	A	2: 127,058,095 (GRCm39)	A286T	possibly damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Srebf2	T	A	15: 82,079,155 (GRCm39)	H794Q	probably benign	Het
Ssbp2	T	C	13: 91,812,303 (GRCm39)		probably benign	Het
Sspo	G	A	6: 48,455,207 (GRCm39)	G3023D	probably damaging	Het
St6galnac5	T	A	3: 152,552,120 (GRCm39)	Q149L	probably benign	Het
Stab2	A	G	10: 86,697,334 (GRCm39)	Y1985H	probably benign	Het
Suz12	A	G	11: 79,889,926 (GRCm39)	M146V	probably benign	Het
Tac2	A	G	10: 127,564,349 (GRCm39)		probably null	Het
Thbd	T	C	2: 148,248,899 (GRCm39)	E323G	probably damaging	Het
Tnfrsf26	T	A	7: 143,171,660 (GRCm39)	T98S	probably damaging	Het
Trim15	T	C	17: 37,173,215 (GRCm39)		probably benign	Het
Trpt1	T	C	19: 6,975,561 (GRCm39)	V105A	possibly damaging	Het
Vcam1	T	C	3: 115,919,606 (GRCm39)	Y226C	probably damaging	Het
Vmn1r175	A	G	7: 23,507,808 (GRCm39)	V273A	probably benign	Het
Vmn2r109	A	G	17: 20,784,969 (GRCm39)	V17A	probably benign	Het
Vmn2r84	G	A	10: 130,226,677 (GRCm39)	A387V	probably benign	Het
Wdfy4	A	T	14: 32,693,641 (GRCm39)	L2728Q	probably damaging	Het
Zfp934	T	A	13: 62,666,108 (GRCm39)	T178S	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
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'- ACACCATGAACTTCGACGTG -3'
(R):5'- GCAATCCCCAGGACTGAAAG -3'

Sequencing Primer
(F):5'- CACCATGAACTTCGACGTGATGAAG -3'
(R):5'- ATTGTCTCAAATTCTAAGGCACCC -3'

Posted On

2014-08-01