Incidental Mutation 'R2567:Pabpc4'
ID 254537
Institutional Source Beutler Lab
Gene Symbol Pabpc4
Ensembl Gene ENSMUSG00000011257
Gene Name poly(A) binding protein, cytoplasmic 4
Synonyms
MMRRC Submission 040426-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2567 (G1)
Quality Score 141
Status Not validated
Chromosome 4
Chromosomal Location 123172722-123192718 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 123191744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 589 (L589Q)
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: L573Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077794
Gene: ENSMUSG00000011257
AA Change: L573Q

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: L618Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079070
Gene: ENSMUSG00000011257
AA Change: L618Q

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: ENSMUST00000083844
Predicted Effect probably damaging
Transcript: ENSMUST00000106241
AA Change: L602Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101848
Gene: ENSMUSG00000011257
AA Change: L602Q

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: L589Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101850
Gene: ENSMUSG00000011257
AA Change: L589Q

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 noncoding transcript
Transcript: ENSMUST00000146156
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A G 3: 59,836,475 (GRCm39) probably benign Het
Aebp1 A G 11: 5,820,251 (GRCm39) D409G probably benign Het
Akap10 A G 11: 61,784,175 (GRCm39) probably benign Het
Akap6 G T 12: 52,985,156 (GRCm39) S863I probably damaging Het
Ap1s3 T C 1: 79,602,921 (GRCm39) K29E possibly damaging Het
Atm T A 9: 53,368,770 (GRCm39) I2341L possibly damaging Het
Atp12a A T 14: 56,624,384 (GRCm39) D944V probably damaging Het
Baz2b A T 2: 59,744,255 (GRCm39) S1417T possibly damaging Het
Cacna1a T A 8: 85,276,354 (GRCm39) M613K probably damaging Het
Ccdc191 A C 16: 43,764,330 (GRCm39) probably null Het
Cd209d T A 8: 3,926,327 (GRCm39) N96I probably damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cdk4 T G 10: 126,900,145 (GRCm39) V14G probably benign Het
Chrna10 C A 7: 101,761,276 (GRCm39) M438I probably benign Het
Clec10a T C 11: 70,060,358 (GRCm39) probably null Het
Cog3 A G 14: 75,991,730 (GRCm39) V40A probably benign Het
Creb3l3 T C 10: 80,921,883 (GRCm39) H315R probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cubn A G 2: 13,283,167 (GRCm39) probably null Het
Cygb T C 11: 116,540,692 (GRCm39) D98G probably damaging Het
Dmbx1 T C 4: 115,777,489 (GRCm39) K120E probably damaging Het
Dnah3 T A 7: 119,551,920 (GRCm39) I2800F possibly damaging Het
Dntt G T 19: 41,029,775 (GRCm39) R245L possibly damaging Het
Dock1 T G 7: 134,747,213 (GRCm39) V1508G probably damaging Het
Enpp4 A C 17: 44,412,736 (GRCm39) I266R probably damaging Het
Fhl4 T C 10: 84,934,644 (GRCm39) I46V possibly damaging Het
Fn1 G A 1: 71,636,895 (GRCm39) Q1995* probably null Het
Foxl3 A G 5: 138,805,940 (GRCm39) S36G probably null Het
Foxo1 T A 3: 52,176,755 (GRCm39) L178H probably damaging Het
Galnt18 C T 7: 111,153,823 (GRCm39) R267H probably damaging Het
Gm1110 T C 9: 26,831,992 (GRCm39) D53G probably benign Het
Gm7104 A T 12: 88,252,242 (GRCm39) noncoding transcript Het
H2-M11 C T 17: 36,859,042 (GRCm39) T194I possibly damaging Het
Haus6 C A 4: 86,504,122 (GRCm39) E501* probably null Het
Ifna5 T C 4: 88,754,147 (GRCm39) V129A probably benign Het
Kdelr3 A G 15: 79,407,032 (GRCm39) I38V probably benign Het
Lamb1 A G 12: 31,319,054 (GRCm39) probably null Het
Larp7-ps T C 4: 92,079,560 (GRCm39) E87G probably benign Het
Mgat4c T A 10: 102,214,123 (GRCm39) F35L probably benign Het
Mmab A T 5: 114,571,378 (GRCm39) M166K probably benign Het
Mrpl2 A G 17: 46,958,427 (GRCm39) T70A probably benign Het
Naa11 C T 5: 97,539,618 (GRCm39) G180D probably benign Het
Npy6r T C 18: 44,408,888 (GRCm39) V103A possibly damaging Het
Nup188 A T 2: 30,231,794 (GRCm39) R1463W possibly damaging Het
Nusap1 T A 2: 119,474,311 (GRCm39) S336R possibly damaging Het
Or8b12c T A 9: 37,715,509 (GRCm39) F101I probably damaging Het
Pcdh12 T A 18: 38,415,149 (GRCm39) N659Y probably damaging Het
Perm1 T C 4: 156,301,575 (GRCm39) S40P probably damaging Het
Phldb1 T C 9: 44,637,322 (GRCm39) T114A probably damaging Het
Pirt C T 11: 66,816,985 (GRCm39) L99F probably damaging Het
Plxdc2 A G 2: 16,716,995 (GRCm39) R360G probably benign Het
Rhpn2 G A 7: 35,080,957 (GRCm39) probably null Het
Rpusd2 T A 2: 118,867,556 (GRCm39) I268N probably damaging Het
Sds G T 5: 120,619,646 (GRCm39) W185L probably damaging Het
Serpinb5 A G 1: 106,802,876 (GRCm39) K137R probably benign Het
Sh3pxd2a A G 19: 47,413,008 (GRCm39) V25A possibly damaging Het
Slc1a2 C T 2: 102,597,355 (GRCm39) T454I probably damaging Het
Slc25a40 T C 5: 8,480,459 (GRCm39) C70R probably damaging Het
Smoc1 G A 12: 81,214,364 (GRCm39) E260K probably damaging Het
Sparcl1 A T 5: 104,232,954 (GRCm39) F616I probably damaging Het
Ssc5d A T 7: 4,939,334 (GRCm39) D590V probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpm2 C T 10: 77,777,008 (GRCm39) V430M probably damaging Het
Ttn T C 2: 76,574,672 (GRCm39) D25407G probably damaging Het
Vmn2r68 T C 7: 84,883,803 (GRCm39) I101V probably benign Het
Xrcc4 A T 13: 90,210,261 (GRCm39) M61K probably damaging Het
Zfp648 A G 1: 154,080,695 (GRCm39) T285A 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
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'- GCAGATGCTGGGTAAGTTCG -3'
(R):5'- GCCTGGAACATATGGTAAGGC -3'

Sequencing Primer
(F):5'- AAGTTCGCCTGCTTGCAGAAG -3'
(R):5'- CTGGAACATATGGTAAGGCCCTATC -3'
Posted On 2014-12-04