Incidental Mutation 'R6368:Pnldc1'
ID 512820
Institutional Source Beutler Lab
Gene Symbol Pnldc1
Ensembl Gene ENSMUSG00000073460
Gene Name poly(A)-specific ribonuclease (PARN)-like domain containing 1
Synonyms LOC240023
MMRRC Submission 044518-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R6368 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 13107616-13129117 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13124751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 90 (N90K)
Ref Sequence ENSEMBL: ENSMUSP00000129377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163394]
AlphaFold B2RXZ1
Predicted Effect probably damaging
Transcript: ENSMUST00000163394
AA Change: N90K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129377
Gene: ENSMUSG00000073460
AA Change: N90K

DomainStartEndE-ValueType
Pfam:CAF1 3 373 1e-75 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik C A 9: 55,897,416 (GRCm39) E272D possibly damaging Het
Abi2 A G 1: 60,492,810 (GRCm39) T158A possibly damaging Het
Acacb T C 5: 114,354,884 (GRCm39) S1221P probably damaging Het
Agbl1 A G 7: 76,069,578 (GRCm39) D370G probably benign Het
Apeh A G 9: 107,964,442 (GRCm39) I487T probably damaging Het
Arid1b C A 17: 5,382,808 (GRCm39) N1297K possibly damaging Het
Ascc3 G A 10: 50,576,081 (GRCm39) G779S probably damaging Het
Atp7b A C 8: 22,510,771 (GRCm39) probably null Het
Bsn C T 9: 107,988,513 (GRCm39) probably benign Het
Caps2 C T 10: 112,030,873 (GRCm39) Q268* probably null Het
Cnfn C T 7: 25,067,386 (GRCm39) probably null Het
Cr2 A G 1: 194,850,780 (GRCm39) S229P probably damaging Het
Cubn T C 2: 13,435,806 (GRCm39) Y1050C probably damaging Het
Cubn T C 2: 13,480,934 (GRCm39) E307G probably damaging Het
Cyb5r3 A C 15: 83,044,325 (GRCm39) Y182D possibly damaging Het
Dclre1a A T 19: 56,535,223 (GRCm39) H120Q probably benign Het
Ddx6 T C 9: 44,547,073 (GRCm39) I457T probably damaging Het
E2f1 A T 2: 154,406,396 (GRCm39) H93Q possibly damaging Het
Fam186a T C 15: 99,841,198 (GRCm39) K1682R possibly damaging Het
Farsb A G 1: 78,443,602 (GRCm39) probably null Het
Flii A T 11: 60,611,962 (GRCm39) L347Q probably damaging Het
Galntl6 T G 8: 59,364,475 (GRCm39) T12P probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm21680 T C 5: 26,174,034 (GRCm39) N190S probably damaging Het
Ifit1bl2 T C 19: 34,596,525 (GRCm39) S364G probably benign Het
Kdm2a A G 19: 4,400,345 (GRCm39) I234T probably damaging Het
Kdm5b T C 1: 134,526,945 (GRCm39) C356R probably damaging Het
Kel A T 6: 41,665,785 (GRCm39) C174* probably null Het
Krt16 T A 11: 100,137,502 (GRCm39) D401V probably damaging Het
Ltb4r1 A C 14: 56,005,200 (GRCm39) I168L probably benign Het
Luzp1 T A 4: 136,269,091 (GRCm39) M438K probably benign Het
Mtf1 C T 4: 124,718,145 (GRCm39) T281M probably damaging Het
Myo9a T A 9: 59,832,231 (GRCm39) S2587T probably benign Het
Or13a21 G T 7: 139,999,580 (GRCm39) Y35* probably null Het
Or1ad1 T A 11: 50,875,613 (GRCm39) F28L probably benign Het
Or4f58 A T 2: 111,851,896 (GRCm39) I101N probably damaging Het
Or7e169 T C 9: 19,757,705 (GRCm39) D70G probably damaging Het
Pcm1 T A 8: 41,746,581 (GRCm39) F1221Y probably benign Het
Prickle2 A T 6: 92,397,218 (GRCm39) L169Q probably damaging Het
Ralgps2 A T 1: 156,712,144 (GRCm39) L147I probably damaging Het
Rfx3 A T 19: 27,746,009 (GRCm39) L674Q possibly damaging Het
Rpl3 C A 15: 79,966,745 (GRCm39) L14F probably damaging Het
Rrbp1 C T 2: 143,831,475 (GRCm39) G231R probably damaging Het
Sema3d C T 5: 12,620,980 (GRCm39) L529F probably damaging Het
Slain1 A T 14: 103,894,391 (GRCm39) T193S probably benign Het
Slc2a6 G T 2: 26,914,599 (GRCm39) Q256K possibly damaging Het
Slk A G 19: 47,608,622 (GRCm39) E525G possibly damaging Het
Spsb4 G T 9: 96,826,698 (GRCm39) Q252K probably benign Het
Taf1b A G 12: 24,608,256 (GRCm39) T552A possibly damaging Het
Tmprss15 T C 16: 78,802,945 (GRCm39) probably null Het
Tph2 T C 10: 115,015,231 (GRCm39) H177R probably damaging Het
Ttll1 A G 15: 83,373,818 (GRCm39) S332P probably damaging Het
Twf2 T G 9: 106,090,032 (GRCm39) N128K probably benign Het
Vegfc T A 8: 54,634,265 (GRCm39) C315S probably damaging Het
Vmn2r111 T A 17: 22,790,889 (GRCm39) K136N probably benign Het
Wnk2 T C 13: 49,214,814 (GRCm39) E496G probably damaging Het
Zfp148 C A 16: 33,317,568 (GRCm39) Q705K probably damaging Het
Zw10 C T 9: 48,984,535 (GRCm39) A539V probably damaging Het
Other mutations in Pnldc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Pnldc1 APN 17 13,124,645 (GRCm39) splice site probably benign
IGL01599:Pnldc1 APN 17 13,125,415 (GRCm39) missense probably benign 0.18
IGL02109:Pnldc1 APN 17 13,124,425 (GRCm39) missense probably benign 0.01
R0022:Pnldc1 UTSW 17 13,109,006 (GRCm39) missense probably damaging 1.00
R0423:Pnldc1 UTSW 17 13,108,963 (GRCm39) missense possibly damaging 0.51
R1921:Pnldc1 UTSW 17 13,107,815 (GRCm39) missense possibly damaging 0.94
R1978:Pnldc1 UTSW 17 13,125,392 (GRCm39) missense possibly damaging 0.88
R2403:Pnldc1 UTSW 17 13,118,777 (GRCm39) missense probably damaging 1.00
R4027:Pnldc1 UTSW 17 13,109,666 (GRCm39) missense probably benign 0.01
R4574:Pnldc1 UTSW 17 13,111,669 (GRCm39) missense probably benign 0.01
R5148:Pnldc1 UTSW 17 13,111,676 (GRCm39) missense probably benign 0.00
R5381:Pnldc1 UTSW 17 13,109,283 (GRCm39) missense probably benign 0.07
R5973:Pnldc1 UTSW 17 13,113,260 (GRCm39) missense probably benign 0.07
R6073:Pnldc1 UTSW 17 13,109,250 (GRCm39) missense probably null 0.05
R6551:Pnldc1 UTSW 17 13,124,456 (GRCm39) missense probably damaging 0.98
R7909:Pnldc1 UTSW 17 13,122,098 (GRCm39) missense probably benign 0.04
R8088:Pnldc1 UTSW 17 13,116,189 (GRCm39) missense probably damaging 1.00
R8724:Pnldc1 UTSW 17 13,111,703 (GRCm39) missense probably damaging 0.96
R8728:Pnldc1 UTSW 17 13,116,165 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACACCTTGGCCTCGTGTAG -3'
(R):5'- TTGACTTTGCACCCCAAGG -3'

Sequencing Primer
(F):5'- CTCGTGTAGGGAGGGAGC -3'
(R):5'- AAGGGCAGTATGACTCCCTG -3'
Posted On 2018-04-27