Incidental Mutation 'R7767:Pabpc2'
ID598342
Institutional Source Beutler Lab
Gene Symbol Pabpc2
Ensembl Gene ENSMUSG00000051732
Gene Namepoly(A) binding protein, cytoplasmic 2
SynonymsPabp2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.164) question?
Stock #R7767 (G1)
Quality Score225.009
Status Not validated
Chromosome18
Chromosomal Location39773497-39776082 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 39774554 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 291 (Y291H)
Ref Sequence ENSEMBL: ENSMUSP00000066639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063219]
Predicted Effect possibly damaging
Transcript: ENSMUST00000063219
AA Change: Y291H

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000066639
Gene: ENSMUSG00000051732
AA Change: Y291H

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik G T 3: 36,920,287 probably null Het
Aox4 C A 1: 58,235,207 S384Y probably damaging Het
Arhgef15 T C 11: 68,953,847 E308G probably damaging Het
Asb15 A G 6: 24,559,282 D142G probably benign Het
Atg13 A G 2: 91,679,366 S394P probably damaging Het
Atp10a G C 7: 58,658,849 W132S probably damaging Het
BC003331 A G 1: 150,372,037 V387A probably benign Het
Bod1l T A 5: 41,816,756 N2405I probably benign Het
Capsl C T 15: 9,462,684 R137C probably damaging Het
Cd109 T A 9: 78,710,159 M1313K probably damaging Het
Chst13 G A 6: 90,309,584 A132V possibly damaging Het
Cobl T C 11: 12,412,117 probably benign Het
Coq9 A T 8: 94,850,586 E193V probably benign Het
Cpd T A 11: 76,813,559 I410F probably benign Het
Cyth3 T G 5: 143,707,474 V351G probably damaging Het
Dcdc2c T C 12: 28,470,257 K607E Het
Dcp1a T C 14: 30,479,818 probably null Het
Dennd3 A G 15: 73,522,230 I35V probably benign Het
Dlgap4 C T 2: 156,746,053 R606W probably damaging Het
Dnhd1 A G 7: 105,694,610 I1720M probably benign Het
Erbin A G 13: 103,859,399 L265P probably damaging Het
Ern1 T C 11: 106,400,308 D847G probably damaging Het
Esyt3 T G 9: 99,324,971 S342R probably benign Het
Exoc2 A T 13: 30,876,769 I584K probably benign Het
Fam240a T C 9: 110,915,022 R50G probably damaging Het
Glis3 A T 19: 28,263,960 M858K probably benign Het
Gls2 C T 10: 128,195,129 R86C unknown Het
Gm10972 C A 3: 94,643,594 Y25* probably null Het
H2-T10 A T 17: 36,117,730 M350K probably benign Het
Has1 A T 17: 17,850,530 V43D probably damaging Het
Herc2 T A 7: 56,228,527 S4609R probably benign Het
Hmgcs2 A C 3: 98,291,266 T162P probably damaging Het
Hspg2 G T 4: 137,511,866 C368F probably damaging Het
Ighv11-1 A G 12: 113,982,102 S44P probably damaging Het
Inppl1 A G 7: 101,824,338 V1035A probably benign Het
Kmt2a C T 9: 44,818,998 V3341I unknown Het
Lrp1b T C 2: 40,801,505 N3434S Het
Lrriq1 G C 10: 103,215,954 S312R probably damaging Het
Map1a G A 2: 121,302,036 S1111N probably damaging Het
Myo15 T C 11: 60,502,096 V1029A Het
Nol11 T C 11: 107,179,082 H314R possibly damaging Het
Nphs1 A T 7: 30,463,308 D404V probably damaging Het
Olfr550 A T 7: 102,571,764 probably benign Het
Pcdh15 G A 10: 74,486,256 A1020T probably benign Het
Pla2g4f A C 2: 120,305,009 S395A possibly damaging Het
Ppp1r18 A G 17: 35,867,284 Q17R probably damaging Het
Prokr2 A T 2: 132,374,076 V155D probably damaging Het
Pwwp2a T G 11: 43,705,869 C620W probably damaging Het
Rabepk T C 2: 34,785,593 D175G probably damaging Het
Rad54l T C 4: 116,099,669 Y485C probably damaging Het
Rasef A G 4: 73,734,534 S577P probably damaging Het
Rgma C A 7: 73,418,004 L446I unknown Het
Rnf212b T C 14: 54,842,368 S182P probably damaging Het
Rnf6 C A 5: 146,211,176 R344I probably damaging Het
Rnf6 T A 5: 146,211,177 R344* probably null Het
Sgo1 A G 17: 53,679,611 I184T possibly damaging Het
Sgpl1 A T 10: 61,117,723 I78N possibly damaging Het
Snx13 T A 12: 35,107,484 Y510N probably damaging Het
Sptbn2 G A 19: 4,734,143 E638K possibly damaging Het
Sspo A G 6: 48,451,382 T349A probably damaging Het
Sv2c C T 13: 95,989,715 S343N probably damaging Het
Syne1 C A 10: 5,333,560 V1502F possibly damaging Het
Syne1 T A 10: 5,333,632 I1478F possibly damaging Het
Tmem121 C T 12: 113,188,372 A70V probably damaging Het
Tmem215 A G 4: 40,474,042 I40V possibly damaging Het
Trim25 A G 11: 89,009,117 probably null Het
Trio A G 15: 27,889,418 V534A unknown Het
Tyr T A 7: 87,493,010 E114V probably benign Het
Ush2a A T 1: 188,553,260 T1998S probably benign Het
Usp40 G T 1: 87,982,178 A518E probably benign Het
Usp48 T A 4: 137,604,645 probably null Het
Vash1 T A 12: 86,686,993 F152L probably damaging Het
Vsig10l C A 7: 43,463,717 P31Q probably damaging Het
Xab2 C T 8: 3,619,018 E43K probably benign Het
Zfp423 G A 8: 87,780,884 S944F probably damaging Het
Zp2 A T 7: 120,137,169 D350E probably benign Het
Zscan4e T G 7: 11,307,534 Q165P probably damaging 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
R0383:Pabpc2 UTSW 18 39775395 missense probably damaging 0.99
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
R8059:Pabpc2 UTSW 18 39774822 missense probably benign 0.33
X0024:Pabpc2 UTSW 18 39775397 nonsense probably null
Predicted Primers PCR Primer
(F):5'- AAAGGATTCGGGTTCGTCAGC -3'
(R):5'- ACATAAAGTGGTTTCGTGGCC -3'

Sequencing Primer
(F):5'- CGTCAGCTTTGAAAGGCATG -3'
(R):5'- GGTTTCGTGGCCACAATTC -3'
Posted On2019-11-26