Incidental Mutation 'R5622:Pabpc4'
ID 441617
Institutional Source Beutler Lab
Gene Symbol Pabpc4
Ensembl Gene ENSMUSG00000011257
Gene Name poly(A) binding protein, cytoplasmic 4
Synonyms
MMRRC Submission 043161-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5622 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 123172722-123192718 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 123185524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078734] [ENSMUST00000078734] [ENSMUST00000078734] [ENSMUST00000078734] [ENSMUST00000080178] [ENSMUST00000080178] [ENSMUST00000106241] [ENSMUST00000106241] [ENSMUST00000106241] [ENSMUST00000106241] [ENSMUST00000106243] [ENSMUST00000106243] [ENSMUST00000106243] [ENSMUST00000106243] [ENSMUST00000183940] [ENSMUST00000183940]
AlphaFold Q6PHQ9
Predicted Effect probably null
Transcript: ENSMUST00000078734
SMART Domains Protein: ENSMUSP00000077794
Gene: ENSMUSG00000011257

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 null
Transcript: ENSMUST00000078734
SMART Domains Protein: ENSMUSP00000077794
Gene: ENSMUSG00000011257

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 null
Transcript: ENSMUST00000078734
SMART Domains Protein: ENSMUSP00000077794
Gene: ENSMUSG00000011257

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 null
Transcript: ENSMUST00000078734
SMART Domains Protein: ENSMUSP00000077794
Gene: ENSMUSG00000011257

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 null
Transcript: ENSMUST00000080178
SMART Domains Protein: ENSMUSP00000079070
Gene: ENSMUSG00000011257

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 null
Transcript: ENSMUST00000080178
SMART Domains Protein: ENSMUSP00000079070
Gene: ENSMUSG00000011257

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 noncoding transcript
Transcript: ENSMUST00000082721
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083844
Predicted Effect probably null
Transcript: ENSMUST00000106241
SMART Domains Protein: ENSMUSP00000101848
Gene: ENSMUSG00000011257

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 null
Transcript: ENSMUST00000106241
SMART Domains Protein: ENSMUSP00000101848
Gene: ENSMUSG00000011257

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 null
Transcript: ENSMUST00000106241
SMART Domains Protein: ENSMUSP00000101848
Gene: ENSMUSG00000011257

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 null
Transcript: ENSMUST00000106241
SMART Domains Protein: ENSMUSP00000101848
Gene: ENSMUSG00000011257

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 null
Transcript: ENSMUST00000106243
SMART Domains Protein: ENSMUSP00000101850
Gene: ENSMUSG00000011257

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 null
Transcript: ENSMUST00000106243
SMART Domains Protein: ENSMUSP00000101850
Gene: ENSMUSG00000011257

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 null
Transcript: ENSMUST00000106243
SMART Domains Protein: ENSMUSP00000101850
Gene: ENSMUSG00000011257

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 null
Transcript: ENSMUST00000106243
SMART Domains Protein: ENSMUSP00000101850
Gene: ENSMUSG00000011257

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 noncoding transcript
Transcript: ENSMUST00000124991
Predicted Effect probably benign
Transcript: ENSMUST00000183940
SMART Domains Protein: ENSMUSP00000139135
Gene: ENSMUSG00000011257

DomainStartEndE-ValueType
RRM 12 85 1.47e-21 SMART
RRM 100 167 7.64e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183940
SMART Domains Protein: ENSMUSP00000139135
Gene: ENSMUSG00000011257

DomainStartEndE-ValueType
RRM 12 85 1.47e-21 SMART
RRM 100 167 7.64e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156807
Meta Mutation Damage Score 0.9590 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.2%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,546,642 (GRCm39) S320T probably benign Het
Alg8 T A 7: 97,036,006 (GRCm39) probably benign Het
Anp32b G A 4: 46,469,930 (GRCm39) E202K unknown Het
Apcdd1 A G 18: 63,069,973 (GRCm39) probably null Het
Apobec2 A G 17: 48,730,444 (GRCm39) V74A possibly damaging Het
Arid3c A T 4: 41,729,959 (GRCm39) C79S probably benign Het
Atp1a2 A T 1: 172,118,994 (GRCm39) probably benign Het
B2m A T 2: 121,981,471 (GRCm39) N62I probably damaging Het
Borcs5 T C 6: 134,663,086 (GRCm39) probably null Het
Ccn1 A G 3: 145,355,075 (GRCm39) L60P probably damaging Het
Cdk11b A G 4: 155,714,674 (GRCm39) K127E probably damaging Het
Cep170 T C 1: 176,563,433 (GRCm39) H726R possibly damaging Het
Col5a2 A C 1: 45,466,219 (GRCm39) S190A probably benign Het
Cryba4 T C 5: 112,398,990 (GRCm39) D5G probably damaging Het
Cyp2a5 T G 7: 26,535,299 (GRCm39) V87G probably damaging Het
Dcaf8 A G 1: 172,013,965 (GRCm39) probably benign Het
Dchs1 A G 7: 105,404,500 (GRCm39) S2681P probably benign Het
Ddx20 A G 3: 105,586,327 (GRCm39) S673P probably damaging Het
Deptor T A 15: 55,044,428 (GRCm39) I198N probably damaging Het
Ebf2 T C 14: 67,628,007 (GRCm39) I334T possibly damaging Het
F5 A G 1: 164,020,134 (GRCm39) R870G probably benign Het
Flg2 A C 3: 93,109,871 (GRCm39) H633P unknown Het
Gm11938 T A 11: 99,494,119 (GRCm39) probably null Het
Gm6370 A G 5: 146,430,708 (GRCm39) T298A probably benign Het
H60b C A 10: 22,159,441 (GRCm39) probably benign Het
Hsbp1 A G 8: 120,071,324 (GRCm39) T4A possibly damaging Het
Hsd3b3 A T 3: 98,649,524 (GRCm39) D266E possibly damaging Het
Ift172 T C 5: 31,440,426 (GRCm39) Y287C probably damaging Het
Il20rb T A 9: 100,368,371 (GRCm39) Q4L probably benign Het
Krt5 T C 15: 101,617,470 (GRCm39) D421G probably damaging Het
Lonp1 G C 17: 56,927,263 (GRCm39) A330G probably benign Het
Me3 A G 7: 89,445,871 (GRCm39) D196G probably damaging Het
Mfsd12 T A 10: 81,199,461 (GRCm39) V451E probably null Het
Mib1 A G 18: 10,794,503 (GRCm39) N663S possibly damaging Het
Mtus2 A T 5: 148,015,244 (GRCm39) N679I probably benign Het
Myt1 A G 2: 181,438,915 (GRCm39) T146A probably benign Het
Neb T A 2: 52,160,281 (GRCm39) H2244L probably damaging Het
Or51l4 T C 7: 103,404,376 (GRCm39) T139A probably damaging Het
Or5b21 A C 19: 12,839,663 (GRCm39) I175L probably benign Het
Or5p81 C T 7: 108,267,289 (GRCm39) T222I probably benign Het
Padi1 C A 4: 140,552,266 (GRCm39) V393L probably damaging Het
Pax2 A T 19: 44,806,905 (GRCm39) D300V probably damaging Het
Pcgf2 T C 11: 97,581,078 (GRCm39) E71G probably damaging Het
Pi4kb A G 3: 94,906,172 (GRCm39) Q573R possibly damaging Het
Pitpna T A 11: 75,511,153 (GRCm39) M242K possibly damaging Het
Pkd1 A G 17: 24,793,014 (GRCm39) E1567G possibly damaging Het
Plcb2 A T 2: 118,545,210 (GRCm39) S630R probably damaging Het
Prrt2 A T 7: 126,618,937 (GRCm39) V176D probably benign Het
Prss1l A C 6: 41,373,084 (GRCm39) N119H probably damaging Het
Prss42 T C 9: 110,628,490 (GRCm39) probably null Het
Rhoq A G 17: 87,304,459 (GRCm39) R197G probably benign Het
Rin2 A T 2: 145,702,299 (GRCm39) T332S probably benign Het
Rnps1-ps C T 6: 7,982,605 (GRCm39) noncoding transcript Het
Rp1 A T 1: 4,418,060 (GRCm39) N1017K possibly damaging Het
Setbp1 T A 18: 78,900,700 (GRCm39) Y989F probably damaging Het
Slc11a1 G A 1: 74,420,065 (GRCm39) G191D probably damaging Het
Slc35f5 G A 1: 125,517,693 (GRCm39) R497Q probably damaging Het
Slf1 T C 13: 77,198,090 (GRCm39) K728R probably benign Het
Tiparp T G 3: 65,454,946 (GRCm39) S364A probably benign Het
Tph1 G A 7: 46,296,969 (GRCm39) Q409* probably null Het
Trp73 A T 4: 154,145,049 (GRCm39) I526N possibly damaging Het
Ttc9c G A 19: 8,793,332 (GRCm39) R103* probably null Het
Vmn2r75 T A 7: 85,797,702 (GRCm39) I704F probably benign Het
Wdr76 A G 2: 121,348,216 (GRCm39) R63G probably damaging Het
Zc3h3 T A 15: 75,648,928 (GRCm39) S735C probably damaging Het
Zfp383 G A 7: 29,611,615 (GRCm39) V32M probably damaging Het
Zfp810 T A 9: 22,190,392 (GRCm39) Y172F probably benign 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
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'- AGCAGAAGATGTGTCTGGGC -3'
(R):5'- TAAGATACCACAGGCACGTC -3'

Sequencing Primer
(F):5'- AAGATGTGTCTGGGCCAGTAACTC -3'
(R):5'- GATACCACAGGCACGTCAAACATTC -3'
Posted On 2016-11-08