Incidental Mutation 'R3087:Pabpc2'
ID 262878
Institutional Source Beutler Lab
Gene Symbol Pabpc2
Ensembl Gene ENSMUSG00000051732
Gene Name poly(A) binding protein, cytoplasmic 2
Synonyms Pabp2
MMRRC Submission 040576-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R3087 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 39906550-39909135 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39907319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 195 (I195V)
Ref Sequence ENSEMBL: ENSMUSP00000066639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063219]
AlphaFold Q62029
Predicted Effect probably benign
Transcript: ENSMUST00000063219
AA Change: I195V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000066639
Gene: ENSMUSG00000051732
AA Change: I195V

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
Meta Mutation Damage Score 0.0713 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 97% (29/30)
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aknad1 C T 3: 108,664,179 (GRCm39) Q381* probably null Het
Arhgef39 C T 4: 43,497,581 (GRCm39) probably null Het
Cblif A T 19: 11,737,737 (GRCm39) K383* probably null Het
Ccdc85a G T 11: 28,342,857 (GRCm39) C113* probably null Het
Cdc16 T C 8: 13,809,004 (GRCm39) Y19H probably damaging Het
Ces2e T A 8: 105,657,347 (GRCm39) M289K probably benign Het
Cyp2u1 G A 3: 131,096,676 (GRCm39) A34V probably benign Het
Dkk2 A C 3: 131,791,900 (GRCm39) N36T probably damaging Het
Fam222a A G 5: 114,750,015 (GRCm39) S404G probably damaging Het
Fbll1 A T 11: 35,689,017 (GRCm39) V82E probably damaging Het
Flt3 A G 5: 147,284,856 (GRCm39) S754P probably benign Het
Fmo5 T C 3: 97,549,011 (GRCm39) W220R probably damaging Het
Gm7275 A G 16: 47,894,098 (GRCm39) noncoding transcript Het
Gmeb2 G T 2: 180,897,433 (GRCm39) probably benign Het
Ifi44l T C 3: 151,468,494 (GRCm39) H12R unknown Het
Itsn2 T C 12: 4,716,303 (GRCm39) Y1021H probably damaging Het
Map4 T C 9: 109,882,257 (GRCm39) S374P possibly damaging Het
Map4k4 A T 1: 40,060,242 (GRCm39) probably null Het
Mast4 G T 13: 102,990,434 (GRCm39) probably benign Het
Mdfic T A 6: 15,799,668 (GRCm39) L265H probably damaging Het
Pramel25 A G 4: 143,520,416 (GRCm39) D56G probably benign Het
Prdm1 T C 10: 44,322,823 (GRCm39) Y224C probably damaging Het
Spidr T C 16: 15,786,483 (GRCm39) Y420C probably damaging Het
Tlr6 A T 5: 65,111,668 (GRCm39) M413K probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn1r11 A C 6: 57,114,691 (GRCm39) K81N possibly damaging Het
Vmn2r107 G A 17: 20,580,607 (GRCm39) E515K probably benign Het
Vstm4 T C 14: 32,614,592 (GRCm39) V178A possibly 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
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
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'- ATGAGAATGGCTCCAAGGGC -3'
(R):5'- GCGCTCGACCAACATAAATG -3'

Sequencing Primer
(F):5'- TCCAAGGGCCACGGATTTGTAC -3'
(R):5'- GCTCGACCAACATAAATGTGTTTTCC -3'
Posted On 2015-02-05