Incidental Mutation 'R4080:Pabpc2'
ID 316852
Institutional Source Beutler Lab
Gene Symbol Pabpc2
Ensembl Gene ENSMUSG00000051732
Gene Name poly(A) binding protein, cytoplasmic 2
Synonyms Pabp2
MMRRC Submission 040856-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R4080 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 39906550-39909135 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 39908583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 616 (Q616L)
Ref Sequence ENSEMBL: ENSMUSP00000066639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063219]
AlphaFold Q62029
Predicted Effect possibly damaging
Transcript: ENSMUST00000063219
AA Change: Q616L

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000066639
Gene: ENSMUSG00000051732
AA Change: Q616L

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: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,109,497 (GRCm39) D324E possibly damaging Het
Adam7 T C 14: 68,757,988 (GRCm39) T245A probably benign Het
Adgrf3 G A 5: 30,402,367 (GRCm39) Q554* probably null Het
Aim2 T C 1: 173,287,417 (GRCm39) probably null Het
Arhgef1 G T 7: 24,625,271 (GRCm39) D850Y probably damaging Het
Aspm C A 1: 139,398,493 (GRCm39) Q1024K probably damaging Het
C7 T C 15: 5,019,946 (GRCm39) S734G probably benign Het
Ccdc158 A T 5: 92,771,255 (GRCm39) S987T probably benign Het
Chrna2 C A 14: 66,380,873 (GRCm39) Y47* probably null Het
Chrna2 G T 14: 66,380,866 (GRCm39) G45V probably benign Het
Clec2g C A 6: 128,958,287 (GRCm39) Q117K probably damaging Het
Cntnap5a A G 1: 116,029,304 (GRCm39) S253G probably benign Het
Cttn T A 7: 144,011,461 (GRCm39) D116V probably damaging Het
Cyp2c40 A G 19: 39,790,973 (GRCm39) V286A probably benign Het
Dcbld2 T A 16: 58,285,736 (GRCm39) S632T probably damaging Het
Dscam A T 16: 96,484,972 (GRCm39) N1118K probably benign Het
Eif2a C T 3: 58,447,050 (GRCm39) T92M possibly damaging Het
Frmpd1 T A 4: 45,284,382 (GRCm39) C1068S probably benign Het
Fstl1 G A 16: 37,642,965 (GRCm39) V110I probably benign Het
Gpat2 T C 2: 127,275,542 (GRCm39) I465T probably damaging Het
Gpr137 C T 19: 6,917,791 (GRCm39) probably benign Het
Hgsnat A G 8: 26,436,371 (GRCm39) I561T probably benign Het
Ift74 T A 4: 94,541,149 (GRCm39) probably null Het
Ilf3 A G 9: 21,314,430 (GRCm39) probably null Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc41 C A 4: 115,937,743 (GRCm39) probably null Het
Myh11 C A 16: 14,041,923 (GRCm39) R700L possibly damaging Het
Myo16 A G 8: 10,612,240 (GRCm39) D1295G probably damaging Het
Myo5b A G 18: 74,873,559 (GRCm39) M1488V probably benign Het
Naip6 A T 13: 100,435,815 (GRCm39) Y903N probably damaging Het
Nek6 A G 2: 38,440,649 (GRCm39) H19R probably damaging Het
Nktr A C 9: 121,570,192 (GRCm39) T127P probably damaging Het
Noc4l A T 5: 110,797,738 (GRCm39) D335E probably benign Het
Nsd1 A G 13: 55,449,622 (GRCm39) D1993G probably damaging Het
Or1ad1 G A 11: 50,875,683 (GRCm39) D52N probably damaging Het
Or5h22 A T 16: 58,894,619 (GRCm39) F275I probably damaging Het
Pcdhga4 A T 18: 37,818,832 (GRCm39) D127V probably damaging Het
Phrf1 T C 7: 140,839,633 (GRCm39) probably benign Het
Phtf2 T A 5: 21,018,294 (GRCm39) I16F probably damaging Het
Plekhg3 G T 12: 76,624,755 (GRCm39) R1200L probably benign Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Prorp G T 12: 55,351,398 (GRCm39) V236F possibly damaging Het
Prss12 A G 3: 123,279,134 (GRCm39) N404D probably benign Het
Ptch2 C G 4: 116,968,403 (GRCm39) A926G probably damaging Het
Ptpra T C 2: 30,333,317 (GRCm39) F6L probably damaging Het
Reck T C 4: 43,942,293 (GRCm39) I853T possibly damaging Het
Reep6 G A 10: 80,165,996 (GRCm39) probably benign Het
Rex2 T A 4: 147,143,154 (GRCm39) S547R probably benign Het
Rgs22 C T 15: 36,107,222 (GRCm39) E55K probably damaging Het
Rtl6 T C 15: 84,441,202 (GRCm39) T65A possibly damaging Het
Scarb1 G T 5: 125,354,859 (GRCm39) P491Q probably damaging Het
Scfd1 A G 12: 51,478,302 (GRCm39) S505G probably benign Het
Scube1 T G 15: 83,492,948 (GRCm39) Q904P probably damaging Het
Sis T C 3: 72,828,517 (GRCm39) Y1186C probably damaging Het
Spta1 A G 1: 174,041,632 (GRCm39) D1334G probably benign Het
Spty2d1 T C 7: 46,648,329 (GRCm39) E200G probably damaging Het
Stard13 C A 5: 151,016,294 (GRCm39) probably null Het
Sybu T C 15: 44,582,339 (GRCm39) K95R probably damaging Het
Trappc9 T A 15: 72,813,796 (GRCm39) D488V probably damaging Het
Txk G A 5: 72,858,006 (GRCm39) P381S probably damaging Het
Ubr2 A T 17: 47,299,648 (GRCm39) M198K probably benign Het
Unc5a A T 13: 55,152,294 (GRCm39) T786S possibly damaging Het
Unc93b1 G A 19: 3,991,959 (GRCm39) R231Q probably damaging Het
Wfdc1 T A 8: 120,410,532 (GRCm39) probably null Het
Zfp667 T G 7: 6,308,105 (GRCm39) C258G possibly damaging Het
Zfr G A 15: 12,162,319 (GRCm39) R823H probably benign Het
Other mutations in Pabpc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00963:Pabpc2 APN 18 39,908,390 (GRCm39) missense possibly damaging 0.78
IGL01295:Pabpc2 APN 18 39,907,082 (GRCm39) missense probably damaging 1.00
IGL02061:Pabpc2 APN 18 39,908,046 (GRCm39) missense probably benign 0.01
IGL02104:Pabpc2 APN 18 39,907,936 (GRCm39) missense possibly damaging 0.65
IGL02513:Pabpc2 APN 18 39,908,193 (GRCm39) missense probably benign 0.08
R0201:Pabpc2 UTSW 18 39,908,360 (GRCm39) missense probably benign 0.01
R0383:Pabpc2 UTSW 18 39,908,448 (GRCm39) missense probably damaging 0.99
R0616:Pabpc2 UTSW 18 39,906,792 (GRCm39) missense possibly damaging 0.94
R0727:Pabpc2 UTSW 18 39,908,187 (GRCm39) missense probably benign 0.00
R1597:Pabpc2 UTSW 18 39,906,953 (GRCm39) missense probably damaging 1.00
R1722:Pabpc2 UTSW 18 39,908,169 (GRCm39) missense probably benign 0.08
R1818:Pabpc2 UTSW 18 39,907,163 (GRCm39) missense probably damaging 1.00
R2230:Pabpc2 UTSW 18 39,908,123 (GRCm39) missense probably benign 0.00
R3087:Pabpc2 UTSW 18 39,907,319 (GRCm39) missense probably benign 0.02
R4332:Pabpc2 UTSW 18 39,908,393 (GRCm39) missense probably benign 0.05
R4386:Pabpc2 UTSW 18 39,908,238 (GRCm39) missense probably benign 0.00
R4445:Pabpc2 UTSW 18 39,907,253 (GRCm39) missense probably damaging 1.00
R4718:Pabpc2 UTSW 18 39,907,556 (GRCm39) missense probably benign
R4744:Pabpc2 UTSW 18 39,907,881 (GRCm39) missense probably benign 0.07
R4748:Pabpc2 UTSW 18 39,907,322 (GRCm39) nonsense probably null
R5085:Pabpc2 UTSW 18 39,907,635 (GRCm39) missense probably damaging 1.00
R5113:Pabpc2 UTSW 18 39,908,436 (GRCm39) missense probably benign 0.16
R5994:Pabpc2 UTSW 18 39,906,947 (GRCm39) missense probably benign 0.18
R6216:Pabpc2 UTSW 18 39,907,772 (GRCm39) missense probably damaging 1.00
R6239:Pabpc2 UTSW 18 39,906,891 (GRCm39) missense probably damaging 1.00
R6355:Pabpc2 UTSW 18 39,907,445 (GRCm39) missense probably damaging 0.97
R7221:Pabpc2 UTSW 18 39,906,963 (GRCm39) missense possibly damaging 0.52
R7738:Pabpc2 UTSW 18 39,907,319 (GRCm39) missense possibly damaging 0.78
R7767:Pabpc2 UTSW 18 39,907,607 (GRCm39) missense possibly damaging 0.66
R8059:Pabpc2 UTSW 18 39,907,875 (GRCm39) missense probably benign 0.33
R8190:Pabpc2 UTSW 18 39,908,520 (GRCm39) missense probably benign 0.01
R8528:Pabpc2 UTSW 18 39,908,439 (GRCm39) missense probably benign 0.00
R8905:Pabpc2 UTSW 18 39,907,704 (GRCm39) missense probably benign 0.30
R9617:Pabpc2 UTSW 18 39,907,602 (GRCm39) missense probably benign
X0024:Pabpc2 UTSW 18 39,908,450 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGCTGGGTGAAAGGCTATTC -3'
(R):5'- TAAGATACCAGACCTGACATTGGC -3'

Sequencing Primer
(F):5'- GGGTGAAAGGCTATTCCCTCTC -3'
(R):5'- CTGCAAAGTGTGAGTTTCT -3'
Posted On 2015-05-15