Incidental Mutation 'R7951:Pabpc4'
ID 649549
Institutional Source Beutler Lab
Gene Symbol Pabpc4
Ensembl Gene ENSMUSG00000011257
Gene Name poly(A) binding protein, cytoplasmic 4
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7951 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 123172722-123192718 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 123177532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 42 (V42G)
Ref Sequence ENSEMBL: ENSMUSP00000079070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078734] [ENSMUST00000080178] [ENSMUST00000106241] [ENSMUST00000106243] [ENSMUST00000183940]
AlphaFold Q6PHQ9
Predicted Effect probably damaging
Transcript: ENSMUST00000078734
AA Change: V42G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000077794
Gene: ENSMUSG00000011257
AA Change: V42G

DomainStartEndE-ValueType
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: V42G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000079070
Gene: ENSMUSG00000011257
AA Change: V42G

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000106241
AA Change: V42G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101848
Gene: ENSMUSG00000011257
AA Change: V42G

DomainStartEndE-ValueType
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: V42G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101850
Gene: ENSMUSG00000011257
AA Change: V42G

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000183940
AA Change: V42G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139135
Gene: ENSMUSG00000011257
AA Change: V42G

DomainStartEndE-ValueType
RRM 12 85 1.47e-21 SMART
RRM 100 167 7.64e-20 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 G A 17: 85,004,957 (GRCm39) G575S probably damaging Het
Acacb G T 5: 114,326,401 (GRCm39) A256S probably damaging Het
Adamts20 T C 15: 94,238,947 (GRCm39) D757G probably damaging Het
Adgra3 A G 5: 50,121,126 (GRCm39) V834A probably damaging Het
Adgrv1 A G 13: 81,711,689 (GRCm39) S1096P probably damaging Het
Bmal2 T G 6: 146,714,732 (GRCm39) L135R probably damaging Het
Cct4 T C 11: 22,940,868 (GRCm39) S39P probably benign Het
Cep97 T C 16: 55,725,820 (GRCm39) N689S probably benign Het
Col11a1 T A 3: 113,888,864 (GRCm39) D302E unknown Het
D5Ertd579e C T 5: 36,772,517 (GRCm39) S626N probably benign Het
Dido1 A T 2: 180,312,674 (GRCm39) C1074S probably benign Het
Dnah17 C T 11: 118,009,592 (GRCm39) R660H possibly damaging Het
Dnhd1 A T 7: 105,327,211 (GRCm39) D720V probably damaging Het
Dst T C 1: 34,240,267 (GRCm39) M1872T probably benign Het
Enpp2 T C 15: 54,783,089 (GRCm39) I13M probably benign Het
Fcho1 A G 8: 72,164,920 (GRCm39) F454L probably benign Het
Gad2 A G 2: 22,513,499 (GRCm39) K43R probably damaging Het
Galnt3 C T 2: 65,928,186 (GRCm39) E237K probably benign Het
Hey1 A G 3: 8,729,932 (GRCm39) L175P possibly damaging Het
Jade1 G A 3: 41,546,190 (GRCm39) V72M probably damaging Het
Klhl28 G A 12: 65,003,875 (GRCm39) R213W probably damaging Het
Kprp C T 3: 92,731,637 (GRCm39) R471H unknown Het
Lmtk3 A T 7: 45,435,030 (GRCm39) M27L probably benign Het
Lrp1 A T 10: 127,374,933 (GRCm39) Y4508* probably null Het
Lypd5 T C 7: 24,051,060 (GRCm39) V57A probably damaging Het
Mapk9 T G 11: 49,754,422 (GRCm39) S58R probably damaging Het
Mycbp2 T C 14: 103,452,898 (GRCm39) K1661R probably damaging Het
Myl2 C T 5: 122,244,750 (GRCm39) A140V probably benign Het
Nadk G T 4: 155,661,524 (GRCm39) D17Y probably benign Het
Nckap1l T C 15: 103,381,542 (GRCm39) Y428H probably damaging Het
Nt5c1a T C 4: 123,105,978 (GRCm39) F144S probably benign Het
Ofcc1 C T 13: 40,433,781 (GRCm39) R108Q probably benign Het
Or4c100 A T 2: 88,356,148 (GRCm39) T74S probably damaging Het
Or5d14 A T 2: 87,880,601 (GRCm39) Y122* probably null Het
Or5d40 G T 2: 88,015,616 (GRCm39) V132F probably damaging Het
Prrc2a A T 17: 35,379,477 (GRCm39) N311K unknown Het
Rcbtb2 A T 14: 73,403,992 (GRCm39) R197* probably null Het
Rfc4 A G 16: 22,934,135 (GRCm39) I222T probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,119 (GRCm39) probably benign Het
Rufy1 T C 11: 50,321,736 (GRCm39) D66G probably benign Het
Rxfp1 A T 3: 79,559,682 (GRCm39) C380S probably damaging Het
Scn5a A G 9: 119,358,145 (GRCm39) C699R probably damaging Het
Syngap1 G T 17: 27,185,942 (GRCm39) A1291S possibly damaging Het
Tab1 C A 15: 80,043,058 (GRCm39) N417K probably damaging Het
Tenm3 A G 8: 48,763,738 (GRCm39) V772A possibly damaging Het
Tmem25 T A 9: 44,706,790 (GRCm39) K285I probably damaging Het
Tnks2 A G 19: 36,839,555 (GRCm39) N51D Het
Trpm7 G A 2: 126,655,188 (GRCm39) T1250I possibly damaging Het
Trpv4 T C 5: 114,760,871 (GRCm39) D820G probably benign Het
Tsg101 T A 7: 46,540,891 (GRCm39) I289L probably benign Het
Tubgcp2 C A 7: 139,587,893 (GRCm39) R244L possibly damaging Het
Vmn1r173 C A 7: 23,402,680 (GRCm39) T305K unknown Het
Vmn1r53 A T 6: 90,201,132 (GRCm39) I64K possibly damaging Het
Zfp444 T C 7: 6,191,185 (GRCm39) V122A probably benign Het
Zfp599 A G 9: 22,160,764 (GRCm39) L467P probably damaging Het
Zic1 T C 9: 91,244,654 (GRCm39) E335G probably damaging Het
Other mutations in Pabpc4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TCCTGCAGTAGGCCTTGTTAG -3'
(R):5'- CACATGCCTGGCTCATTTTG -3'

Sequencing Primer
(F):5'- CAGTAGGCCTTGTTAGAAGTCCTC -3'
(R):5'- GCTTCTCAGGCAACATGCTG -3'
Posted On 2020-09-15