Incidental Mutation 'R4585:Pabpc6'
ID 344056
Institutional Source Beutler Lab
Gene Symbol Pabpc6
Ensembl Gene ENSMUSG00000046173
Gene Name poly(A) binding protein, cytoplasmic 6
Synonyms 4932702K14Rik
MMRRC Submission 041806-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R4585 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 9885426-9888633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9888002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 183 (L183P)
Ref Sequence ENSEMBL: ENSMUSP00000050792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057190]
AlphaFold Q9D4E6
Predicted Effect probably damaging
Transcript: ENSMUST00000057190
AA Change: L183P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050792
Gene: ENSMUSG00000046173
AA Change: L183P

DomainStartEndE-ValueType
RRM 12 85 1.78e-20 SMART
RRM 100 171 2.54e-25 SMART
RRM 192 264 1.08e-28 SMART
RRM 305 376 7.57e-24 SMART
low complexity region 500 511 N/A INTRINSIC
PolyA 561 624 3.28e-34 SMART
Meta Mutation Damage Score 0.1603 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 99% (90/91)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T C 5: 4,026,151 (GRCm39) S1269P probably benign Het
Akr7a5 G T 4: 139,038,238 (GRCm39) R58L probably benign Het
Art2a A T 7: 101,203,956 (GRCm39) L194* probably null Het
Aurkaip1 C A 4: 155,917,091 (GRCm39) A113D possibly damaging Het
Bsn T C 9: 107,987,662 (GRCm39) probably benign Het
Ccdc175 T G 12: 72,221,953 (GRCm39) D123A possibly damaging Het
Ccdc7b A G 8: 129,837,401 (GRCm39) T131A probably benign Het
Ccnt2 T C 1: 127,730,766 (GRCm39) S548P probably damaging Het
Cep126 T C 9: 8,103,338 (GRCm39) Q224R probably damaging Het
Cic A T 7: 24,972,203 (GRCm39) I645L probably benign Het
Cngb1 C T 8: 96,023,756 (GRCm39) probably null Het
Col13a1 T C 10: 61,723,024 (GRCm39) probably null Het
Corin A T 5: 72,487,042 (GRCm39) V706D probably damaging Het
Crebrf A G 17: 26,981,229 (GRCm39) K535R probably damaging Het
Cuzd1 G A 7: 130,916,529 (GRCm39) P310L probably damaging Het
Cxcr5 T A 9: 44,425,442 (GRCm39) I72F probably benign Het
Dapp1 T C 3: 137,644,932 (GRCm39) Q148R probably benign Het
Dcaf17 T A 2: 70,918,924 (GRCm39) S499R probably benign Het
Defb3 A T 8: 19,345,172 (GRCm39) I43F possibly damaging Het
Dlgap2 G A 8: 14,777,999 (GRCm39) probably null Het
Dnah8 A G 17: 30,970,541 (GRCm39) D2684G probably benign Het
Dnajc10 T G 2: 80,178,122 (GRCm39) F710V probably damaging Het
Ep400 G A 5: 110,901,725 (GRCm39) T464I probably damaging Het
Epc1 G A 18: 6,441,157 (GRCm39) Q14* probably null Het
Eral1 A T 11: 77,969,130 (GRCm39) N123K probably damaging Het
Ercc5 G A 1: 44,198,017 (GRCm39) V145I probably benign Het
Evc A G 5: 37,481,057 (GRCm39) S263P probably damaging Het
Fancc A T 13: 63,495,378 (GRCm39) M182K probably benign Het
Fbxl3 G T 14: 103,320,526 (GRCm39) A355E probably damaging Het
Glra3 C A 8: 56,542,028 (GRCm39) T257K probably damaging Het
Gm12789 A G 4: 101,847,159 (GRCm39) Y148C possibly damaging Het
Gm14393 C A 2: 174,904,497 (GRCm39) probably benign Het
Gm19965 T A 1: 116,749,508 (GRCm39) N396K probably benign Het
Gm27013 A T 6: 130,498,003 (GRCm39) noncoding transcript Het
Gmcl1 A G 6: 86,699,605 (GRCm39) S141P probably damaging Het
Gsdmd T A 15: 75,737,600 (GRCm39) probably null Het
Gtf2a1 C T 12: 91,529,700 (GRCm39) V338I possibly damaging Het
H2ac15 T C 13: 21,937,882 (GRCm39) N39S possibly damaging Het
Hap1 G A 11: 100,245,550 (GRCm39) T138M probably benign Het
Ints2 G T 11: 86,140,101 (GRCm39) R244S probably damaging Het
Itgb4 T C 11: 115,884,151 (GRCm39) V945A probably damaging Het
Itih2 C T 2: 10,115,211 (GRCm39) S387N probably benign Het
Klra2 T A 6: 131,207,120 (GRCm39) D163V probably benign Het
Lctl T C 9: 64,038,882 (GRCm39) S324P probably damaging Het
Lrrc24 C A 15: 76,607,889 (GRCm39) R43L probably damaging Het
Mogs G T 6: 83,095,619 (GRCm39) R812L possibly damaging Het
Mroh5 T A 15: 73,661,120 (GRCm39) T467S probably benign Het
Mtap G A 4: 89,090,511 (GRCm39) V194I probably benign Het
Myoz1 A G 14: 20,700,663 (GRCm39) W185R probably damaging Het
Nufip2 T C 11: 77,632,554 (GRCm39) V690A unknown Het
Obox1 A T 7: 15,290,152 (GRCm39) N165I possibly damaging Het
Or1j1 C T 2: 36,702,537 (GRCm39) C189Y probably damaging Het
Or4b1d T A 2: 89,968,558 (GRCm39) E308D probably benign Het
Or4c113 T G 2: 88,885,498 (GRCm39) I91L possibly damaging Het
Or6c35 A G 10: 129,169,142 (GRCm39) T131A probably benign Het
Pcdh15 C T 10: 74,460,116 (GRCm39) R1355W probably damaging Het
Pcdhgb8 C A 18: 37,895,413 (GRCm39) A161E probably benign Het
Pex1 A G 5: 3,683,885 (GRCm39) Y1127C probably damaging Het
Phc2 A T 4: 128,637,303 (GRCm39) H563L probably damaging Het
Plekha2 C A 8: 25,533,685 (GRCm39) E291* probably null Het
Qser1 C A 2: 104,617,138 (GRCm39) V1225L probably benign Het
Ralgapa2 A T 2: 146,156,944 (GRCm39) D1882E probably damaging Het
Rgs17 T C 10: 5,792,596 (GRCm39) D70G probably benign Het
Runx1t1 A T 4: 13,889,864 (GRCm39) T598S unknown Het
Scn2a T A 2: 65,573,395 (GRCm39) probably null Het
Serpinb10 T A 1: 107,474,779 (GRCm39) C314S probably benign Het
Setbp1 A C 18: 79,130,164 (GRCm39) S23A probably benign Het
Sh3pxd2b A G 11: 32,346,479 (GRCm39) D116G possibly damaging Het
Slc4a1 G T 11: 102,252,245 (GRCm39) probably benign Het
Snx19 T C 9: 30,351,491 (GRCm39) L155P probably damaging Het
Sox2 A G 3: 34,705,193 (GRCm39) N210S probably benign Het
Spag6 T C 2: 18,736,958 (GRCm39) probably null Het
Speer4b A T 5: 27,703,036 (GRCm39) L154Q probably null Het
Strn3 T A 12: 51,696,953 (GRCm39) E259D probably benign Het
Tenm1 G A X: 41,626,856 (GRCm39) Q1931* probably null Het
Trp53bp1 C G 2: 121,038,432 (GRCm39) G1469R probably damaging Het
Ttc8 C A 12: 98,948,789 (GRCm39) Q492K probably benign Het
Ttn T C 2: 76,798,747 (GRCm39) H509R probably benign Het
Utrn T A 10: 12,564,050 (GRCm39) H1270L probably benign Het
Vopp1 G A 6: 57,731,533 (GRCm39) P153S probably damaging Het
Wdfy4 T A 14: 32,809,912 (GRCm39) I1770F possibly damaging Het
Zfp14 G T 7: 29,738,341 (GRCm39) Q215K probably damaging Het
Zfp473 A T 7: 44,382,376 (GRCm39) Y651* probably null Het
Zfp735 G T 11: 73,580,550 (GRCm39) E16D possibly damaging Het
Other mutations in Pabpc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00591:Pabpc6 APN 17 9,887,427 (GRCm39) missense possibly damaging 0.80
IGL00984:Pabpc6 APN 17 9,887,618 (GRCm39) missense probably damaging 1.00
IGL01123:Pabpc6 APN 17 9,887,076 (GRCm39) missense probably benign 0.01
IGL01301:Pabpc6 APN 17 9,886,899 (GRCm39) missense probably benign
IGL02347:Pabpc6 APN 17 9,887,993 (GRCm39) missense probably benign 0.03
ANU18:Pabpc6 UTSW 17 9,886,899 (GRCm39) missense probably benign
R0022:Pabpc6 UTSW 17 9,888,145 (GRCm39) missense probably benign 0.19
R0022:Pabpc6 UTSW 17 9,888,145 (GRCm39) missense probably benign 0.19
R1593:Pabpc6 UTSW 17 9,886,742 (GRCm39) missense probably damaging 0.98
R1695:Pabpc6 UTSW 17 9,887,003 (GRCm39) missense probably benign 0.01
R3897:Pabpc6 UTSW 17 9,888,056 (GRCm39) missense probably benign 0.38
R3903:Pabpc6 UTSW 17 9,888,083 (GRCm39) missense probably benign 0.16
R5009:Pabpc6 UTSW 17 9,887,489 (GRCm39) missense probably damaging 1.00
R5112:Pabpc6 UTSW 17 9,888,540 (GRCm39) missense probably damaging 1.00
R5769:Pabpc6 UTSW 17 9,886,772 (GRCm39) nonsense probably null
R6174:Pabpc6 UTSW 17 9,887,084 (GRCm39) missense probably benign
R6488:Pabpc6 UTSW 17 9,888,528 (GRCm39) missense probably damaging 1.00
R7140:Pabpc6 UTSW 17 9,887,357 (GRCm39) missense possibly damaging 0.46
R7586:Pabpc6 UTSW 17 9,887,611 (GRCm39) missense probably damaging 1.00
R8001:Pabpc6 UTSW 17 9,888,302 (GRCm39) missense probably damaging 1.00
R8129:Pabpc6 UTSW 17 9,887,427 (GRCm39) missense possibly damaging 0.80
R8211:Pabpc6 UTSW 17 9,888,386 (GRCm39) missense probably damaging 1.00
R8393:Pabpc6 UTSW 17 9,887,435 (GRCm39) missense probably damaging 1.00
R8792:Pabpc6 UTSW 17 9,888,332 (GRCm39) missense probably damaging 1.00
R9036:Pabpc6 UTSW 17 9,888,281 (GRCm39) missense probably damaging 1.00
R9147:Pabpc6 UTSW 17 9,886,937 (GRCm39) missense probably benign
R9148:Pabpc6 UTSW 17 9,886,937 (GRCm39) missense probably benign
R9255:Pabpc6 UTSW 17 9,886,769 (GRCm39) missense probably damaging 1.00
R9799:Pabpc6 UTSW 17 9,888,114 (GRCm39) missense probably damaging 1.00
RF038:Pabpc6 UTSW 17 9,887,044 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- TGCCTTTCAAAGCTTACGAATCC -3'
(R):5'- AGATCCATTGACAGTAAAACGCTG -3'

Sequencing Primer
(F):5'- AGCTTACGAATCCGAATCCTTTGG -3'
(R):5'- TGGTAACATCCTTTCCTGTAAGG -3'
Posted On 2015-09-24