Incidental Mutation 'R1722:Pabpc2'
ID 191580
Institutional Source Beutler Lab
Gene Symbol Pabpc2
Ensembl Gene ENSMUSG00000051732
Gene Name poly(A) binding protein, cytoplasmic 2
Synonyms Pabp2
MMRRC Submission 039754-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R1722 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 39906550-39909135 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 39908169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 478 (I478S)
Ref Sequence ENSEMBL: ENSMUSP00000066639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063219]
AlphaFold Q62029
Predicted Effect probably benign
Transcript: ENSMUST00000063219
AA Change: I478S

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000066639
Gene: ENSMUSG00000051732
AA Change: I478S

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: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik A T 2: 103,824,273 (GRCm39) probably null Het
Adss1 A T 12: 112,602,915 (GRCm39) I346F possibly damaging Het
Ahnak T A 19: 8,988,019 (GRCm39) L3101H probably damaging Het
Aldh3b3 A G 19: 4,014,871 (GRCm39) I123V possibly damaging Het
Angptl1 C T 1: 156,684,655 (GRCm39) P275S possibly damaging Het
Apoa5 C T 9: 46,181,847 (GRCm39) Q308* probably null Het
Arhgef12 T C 9: 42,932,013 (GRCm39) *106W probably null Het
Atp2c1 A G 9: 105,316,599 (GRCm39) Y485H probably benign Het
Atp6v1b1 C T 6: 83,720,074 (GRCm39) T3I possibly damaging Het
Btbd7 A T 12: 102,778,913 (GRCm39) I451N possibly damaging Het
Clasp1 T G 1: 118,518,194 (GRCm39) L1080R probably damaging Het
Clec4f A G 6: 83,623,915 (GRCm39) V408A probably benign Het
Clint1 T A 11: 45,797,233 (GRCm39) M438K possibly damaging Het
Cuzd1 A T 7: 130,913,373 (GRCm39) Y415N probably damaging Het
Ddias A G 7: 92,509,250 (GRCm39) F222L possibly damaging Het
Efcab7 A T 4: 99,757,815 (GRCm39) T321S probably benign Het
Elp3 A T 14: 65,788,846 (GRCm39) D393E probably benign Het
Fbn2 T C 18: 58,181,124 (GRCm39) probably null Het
Fcgr3 T C 1: 170,881,688 (GRCm39) R146G possibly damaging Het
Fkrp G A 7: 16,544,719 (GRCm39) A381V probably benign Het
Gatad2b T G 3: 90,262,986 (GRCm39) I476S probably damaging Het
Gm1527 C T 3: 28,975,783 (GRCm39) H557Y probably benign Het
Gm2431 A T 7: 141,811,599 (GRCm39) C102S unknown Het
Hoxd13 A G 2: 74,500,389 (GRCm39) N310S probably benign Het
Il9 T A 13: 56,627,208 (GRCm39) T135S probably benign Het
Ints4 A C 7: 97,162,786 (GRCm39) N476T probably benign Het
Kcnq4 A C 4: 120,559,624 (GRCm39) D525E probably benign Het
Kncn A T 4: 115,743,096 (GRCm39) Y57F probably damaging Het
Lpl TGG TG 8: 69,349,254 (GRCm39) probably null Het
Lrrfip2 A G 9: 111,028,829 (GRCm39) T351A probably damaging Het
Madd T C 2: 90,997,982 (GRCm39) E682G probably benign Het
Marchf7 A C 2: 60,064,526 (GRCm39) R267S probably damaging Het
Mmp16 T A 4: 18,051,767 (GRCm39) L252Q probably damaging Het
Mri1 A T 8: 84,980,554 (GRCm39) V296D possibly damaging Het
Myo3a A G 2: 22,404,638 (GRCm39) T665A probably benign Het
N4bp2 T C 5: 65,964,225 (GRCm39) V758A probably benign Het
Nbea T C 3: 55,573,116 (GRCm39) D2489G probably damaging Het
Neb T C 2: 52,146,757 (GRCm39) T2836A probably damaging Het
Nedd4l T A 18: 65,291,010 (GRCm39) V203E probably damaging Het
Nkpd1 C A 7: 19,257,846 (GRCm39) Q392K possibly damaging Het
Nploc4 G T 11: 120,273,395 (GRCm39) A576E probably benign Het
Nxph1 T A 6: 9,247,516 (GRCm39) N162K probably damaging Het
Or3a1 T C 11: 74,225,271 (GRCm39) Y262C probably damaging Het
Or7c70 T A 10: 78,682,805 (GRCm39) T315S probably benign Het
Pde7b G T 10: 20,311,990 (GRCm39) H190Q probably damaging Het
Plekha2 A T 8: 25,532,976 (GRCm39) S332T probably benign Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rasl11a A T 5: 146,782,052 (GRCm39) H9L probably benign Het
Rer1 A T 4: 155,159,458 (GRCm39) F177I probably damaging Het
Rinl T C 7: 28,491,669 (GRCm39) L74P probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Rttn T C 18: 88,991,655 (GRCm39) V78A probably benign Het
Skint5 A T 4: 113,703,508 (GRCm39) probably null Het
Tenm2 A C 11: 35,898,930 (GRCm39) Y2743D probably damaging Het
Tmem101 T C 11: 102,045,519 (GRCm39) Y110C probably damaging Het
Trim9 T C 12: 70,295,148 (GRCm39) N658S probably benign Het
Ucp1 A T 8: 84,017,317 (GRCm39) T36S probably benign Het
Vmn2r43 A G 7: 8,258,067 (GRCm39) I382T probably damaging Het
Zfp142 C T 1: 74,608,935 (GRCm39) R1620Q probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably damaging 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
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
R4080:Pabpc2 UTSW 18 39,908,583 (GRCm39) missense possibly damaging 0.86
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'- GCTGCCCTAGCCAAATTGCTCAAC -3'
(R):5'- AACATGCCCGTGATCTTACCAGCC -3'

Sequencing Primer
(F):5'- ACCAAGGCCAAGTGCTCG -3'
(R):5'- GTGATCTTACCAGCCAGAGTC -3'
Posted On 2014-05-14