Incidental Mutation 'R0383:Pabpc2'
ID31135
Institutional Source Beutler Lab
Gene Symbol Pabpc2
Ensembl Gene ENSMUSG00000051732
Gene Namepoly(A) binding protein, cytoplasmic 2
SynonymsPabp2
MMRRC Submission 038589-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.164) question?
Stock #R0383 (G1)
Quality Score225
Status Not validated
Chromosome18
Chromosomal Location39773497-39776082 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 39775395 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 571 (G571D)
Ref Sequence ENSEMBL: ENSMUSP00000066639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063219]
Predicted Effect probably damaging
Transcript: ENSMUST00000063219
AA Change: G571D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000066639
Gene: ENSMUSG00000051732
AA Change: G571D

DomainStartEndE-ValueType
RRM 12 85 1.64e-19 SMART
RRM 100 171 7.57e-24 SMART
RRM 192 264 5.23e-27 SMART
RRM 295 366 3.53e-24 SMART
low complexity region 398 413 N/A INTRINSIC
low complexity region 490 500 N/A INTRINSIC
PolyA 546 609 1.69e-27 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 88.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,239,539 M537V probably benign Het
5730455P16Rik G T 11: 80,363,941 Y351* probably null Het
A530099J19Rik A G 13: 19,729,147 noncoding transcript Het
Aadac G T 3: 60,035,947 R91L possibly damaging Het
Adgrg1 T A 8: 95,011,742 F621Y probably damaging Het
Ankmy1 G T 1: 92,885,053 D511E probably benign Het
Anks4b A T 7: 120,182,874 D376V probably damaging Het
Aox1 G T 1: 58,061,241 C399F probably benign Het
Arfgef1 C T 1: 10,198,842 probably null Het
Arhgef4 G A 1: 34,810,533 V546M probably damaging Het
Cab39 T A 1: 85,837,299 V98E probably damaging Het
Cacna1b T C 2: 24,761,844 N108D probably damaging Het
Car15 C A 16: 17,836,753 E134* probably null Het
Ccdc80 T G 16: 45,095,369 Y163D probably damaging Het
Col22a1 C T 15: 71,869,004 G513D unknown Het
Col8a1 T C 16: 57,632,442 D66G probably damaging Het
Crot C A 5: 8,968,734 S544I probably damaging Het
Cubn G T 2: 13,430,959 P1062Q probably damaging Het
Dcc A T 18: 71,420,263 V774E probably damaging Het
Dlgap5 T A 14: 47,410,361 M240L probably benign Het
Dlx4 A G 11: 95,145,435 V16A probably benign Het
Dnah17 G T 11: 118,067,547 H2703Q probably benign Het
Duox2 A G 2: 122,291,810 probably null Het
Fn1 C T 1: 71,597,685 V168I probably damaging Het
Fpr-rs4 A T 17: 18,022,097 D122V probably damaging Het
Gas2l2 A T 11: 83,423,097 I463N probably benign Het
Ggta1 G T 2: 35,402,404 P297Q probably damaging Het
Gpatch3 C A 4: 133,578,146 R231S probably damaging Het
Gpc1 T C 1: 92,854,983 Y151H probably damaging Het
Gtf2e2 T C 8: 33,755,945 W119R probably damaging Het
H2-M10.2 T C 17: 36,284,361 I304V probably benign Het
Helq T C 5: 100,779,165 K685R probably benign Het
Hps5 C T 7: 46,769,288 probably null Het
Iars T C 13: 49,732,342 C1186R probably damaging Het
Ift43 T C 12: 86,162,021 V158A possibly damaging Het
Iqca A T 1: 90,142,707 I141N probably damaging Het
Kat6b A G 14: 21,669,081 N1276S probably benign Het
Kif19a A T 11: 114,765,514 M1L possibly damaging Het
Kif1b T G 4: 149,202,512 H1241P probably damaging Het
Kif26a T C 12: 112,178,076 V1588A possibly damaging Het
Klb T A 5: 65,372,499 probably null Het
Krtap26-1 A T 16: 88,647,243 Y163* probably null Het
Lefty1 G T 1: 180,937,634 E256* probably null Het
Lox T C 18: 52,529,199 N44S possibly damaging Het
Marf1 C T 16: 14,142,534 A549T probably damaging Het
Mctp1 A G 13: 76,801,544 Y565C probably damaging Het
Megf6 C T 4: 154,265,326 A961V probably benign Het
Mindy4 A G 6: 55,276,634 K496R probably benign Het
Nalcn A T 14: 123,507,559 H352Q probably benign Het
Ncoa5 T C 2: 165,009,390 I188V possibly damaging Het
Notum G T 11: 120,654,456 H426N probably benign Het
Olfr569 T A 7: 102,887,251 I301F possibly damaging Het
Orm2 A T 4: 63,363,996 D137V probably damaging Het
Pabpc4 A G 4: 123,297,942 N599S probably damaging Het
Pak1ip1 T C 13: 41,012,604 V335A probably benign Het
Pcdhb11 A C 18: 37,423,393 D592A probably damaging Het
Pmch C A 10: 88,091,258 T41K possibly damaging Het
Polb G T 8: 22,639,995 S187* probably null Het
Pter G T 2: 13,000,942 G309* probably null Het
Ptprg T C 14: 12,219,024 V406A possibly damaging Het
Ranbp3l A T 15: 9,063,104 E467V possibly damaging Het
Rif1 T A 2: 52,085,141 M354K probably damaging Het
Ripk4 C T 16: 97,748,112 C248Y probably damaging Het
Slc6a15 T C 10: 103,418,053 W617R probably damaging Het
Smyd5 C T 6: 85,440,173 Q178* probably null Het
St18 T A 1: 6,803,024 F328I probably damaging Het
Supt20 T A 3: 54,703,149 L124* probably null Het
Tarbp1 T A 8: 126,447,484 H861L probably benign Het
Tars A G 15: 11,390,325 M356T probably benign Het
Tbc1d10a A G 11: 4,212,819 T221A probably damaging Het
Tead3 A G 17: 28,334,698 probably null Het
Tprg A G 16: 25,422,235 T254A probably damaging Het
Trank1 C A 9: 111,391,477 N2427K probably benign Het
Ttc30b A G 2: 75,938,242 Y56H probably damaging Het
Tufm T C 7: 126,489,864 S380P probably damaging Het
Tyrobp C T 7: 30,414,617 R68C probably damaging Het
Ubl4b T C 3: 107,554,827 E39G possibly damaging Het
Uggt2 A T 14: 119,049,451 F661I probably damaging Het
Upf3b A G X: 37,104,467 I144T probably benign Het
Usp54 A T 14: 20,561,252 D1165E probably benign Het
Vmn2r81 C T 10: 79,293,447 T724I possibly damaging Het
Vsig1 A G X: 140,936,313 I247M possibly damaging Het
Zfp110 C A 7: 12,849,260 L612I probably benign Het
Zfp318 C A 17: 46,413,296 T2075K probably damaging Het
Zfp37 A G 4: 62,191,885 M1T probably null Het
Zfp605 T A 5: 110,128,854 C613S probably damaging Het
Zfp729a G A 13: 67,621,673 P146S possibly damaging Het
Zfp85 T C 13: 67,748,672 N427S probably benign Het
Other mutations in Pabpc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00963:Pabpc2 APN 18 39775337 missense possibly damaging 0.78
IGL01295:Pabpc2 APN 18 39774029 missense probably damaging 1.00
IGL02061:Pabpc2 APN 18 39774993 missense probably benign 0.01
IGL02104:Pabpc2 APN 18 39774883 missense possibly damaging 0.65
IGL02513:Pabpc2 APN 18 39775140 missense probably benign 0.08
R0201:Pabpc2 UTSW 18 39775307 missense probably benign 0.01
R0616:Pabpc2 UTSW 18 39773739 missense possibly damaging 0.94
R0727:Pabpc2 UTSW 18 39775134 missense probably benign 0.00
R1597:Pabpc2 UTSW 18 39773900 missense probably damaging 1.00
R1722:Pabpc2 UTSW 18 39775116 missense probably benign 0.08
R1818:Pabpc2 UTSW 18 39774110 missense probably damaging 1.00
R2230:Pabpc2 UTSW 18 39775070 missense probably benign 0.00
R3087:Pabpc2 UTSW 18 39774266 missense probably benign 0.02
R4080:Pabpc2 UTSW 18 39775530 missense possibly damaging 0.86
R4332:Pabpc2 UTSW 18 39775340 missense probably benign 0.05
R4386:Pabpc2 UTSW 18 39775185 missense probably benign 0.00
R4445:Pabpc2 UTSW 18 39774200 missense probably damaging 1.00
R4718:Pabpc2 UTSW 18 39774503 missense probably benign
R4744:Pabpc2 UTSW 18 39774828 missense probably benign 0.07
R4748:Pabpc2 UTSW 18 39774269 nonsense probably null
R5085:Pabpc2 UTSW 18 39774582 missense probably damaging 1.00
R5113:Pabpc2 UTSW 18 39775383 missense probably benign 0.16
R5994:Pabpc2 UTSW 18 39773894 missense probably benign 0.18
R6216:Pabpc2 UTSW 18 39774719 missense probably damaging 1.00
R6239:Pabpc2 UTSW 18 39773838 missense probably damaging 1.00
R6355:Pabpc2 UTSW 18 39774392 missense probably damaging 0.97
R7221:Pabpc2 UTSW 18 39773910 missense possibly damaging 0.52
R7738:Pabpc2 UTSW 18 39774266 missense possibly damaging 0.78
R7767:Pabpc2 UTSW 18 39774554 missense possibly damaging 0.66
R8059:Pabpc2 UTSW 18 39774822 missense probably benign 0.33
X0024:Pabpc2 UTSW 18 39775397 nonsense probably null
Predicted Primers PCR Primer
(F):5'- CAGCACAGATAACAGGTCAGCGTC -3'
(R):5'- CCAGAGGTACTGCCAACAGCTTTC -3'

Sequencing Primer
(F):5'- CTCGATTCCACAGTACAAGTATG -3'
(R):5'- AACAGCTTTCTGGGCAGC -3'
Posted On2013-04-24