Incidental Mutation 'R4574:Pnldc1'
ID 342357
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 041797-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R4574 (G1)
Quality Score 213
Status Validated
Chromosome 17
Chromosomal Location 13107616-13129117 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13111669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 346 (H346R)
Ref Sequence ENSEMBL: ENSMUSP00000129377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163394]
AlphaFold B2RXZ1
Predicted Effect probably benign
Transcript: ENSMUST00000163394
AA Change: H346R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000129377
Gene: ENSMUSG00000073460
AA Change: H346R

DomainStartEndE-ValueType
Pfam:CAF1 3 373 1e-75 PFAM
Meta Mutation Damage Score 0.0797 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (63/65)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b A C 5: 121,638,856 (GRCm39) S730A probably benign Het
Adamts9 G A 6: 92,856,940 (GRCm39) R319* probably null Het
Anapc1 G T 2: 128,469,115 (GRCm39) S1575R probably damaging Het
Appbp2 A T 11: 85,100,764 (GRCm39) probably null Het
Bcas2 C T 3: 103,081,666 (GRCm39) P90S probably benign Het
Carmil3 GGACGA GGA 14: 55,736,933 (GRCm39) probably benign Het
Cd101 T C 3: 100,920,469 (GRCm39) N477D probably benign Het
Cdk12 A G 11: 98,111,814 (GRCm39) probably benign Het
Clcn4 T C 7: 7,290,804 (GRCm39) E634G probably benign Het
Cltb C T 13: 54,746,574 (GRCm39) R64H probably damaging Het
Cpt1b G T 15: 89,308,247 (GRCm39) probably null Het
Ctf2 T G 7: 127,318,556 (GRCm39) T148P possibly damaging Het
Ddx23 G A 15: 98,545,505 (GRCm39) T601I probably damaging Het
Dlx6 G T 6: 6,865,305 (GRCm39) probably benign Het
Dmrtb1 A T 4: 107,534,265 (GRCm39) N183K possibly damaging Het
Dnah11 A G 12: 117,975,990 (GRCm39) probably null Het
Dnah5 C T 15: 28,367,909 (GRCm39) P2765S probably benign Het
Dnah6 T A 6: 73,063,164 (GRCm39) N2698I probably damaging Het
Fpr-rs6 T A 17: 20,403,359 (GRCm39) M1L probably damaging Het
Gm4841 T C 18: 60,402,998 (GRCm39) N365S probably benign Het
Gsdmc2 C T 15: 63,699,872 (GRCm39) probably null Het
Irx5 G A 8: 93,084,890 (GRCm39) V27I probably damaging Het
Kmt2e T A 5: 23,697,405 (GRCm39) V101D possibly damaging Het
Maip1 A C 1: 57,452,404 (GRCm39) K219Q possibly damaging Het
Mpp7 G T 18: 7,353,228 (GRCm39) R493S probably benign Het
Ms4a14 T C 19: 11,281,335 (GRCm39) T408A probably benign Het
Mthfr A G 4: 148,127,998 (GRCm39) N117S possibly damaging Het
Mtres1 T A 10: 43,409,006 (GRCm39) S46C probably damaging Het
Myo5c A G 9: 75,176,893 (GRCm39) I613V probably benign Het
Neurl1b A G 17: 26,650,860 (GRCm39) Q44R probably benign Het
Nup54 T A 5: 92,573,641 (GRCm39) N187I probably benign Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or5ak22 C A 2: 85,230,370 (GRCm39) C169F probably damaging Het
Pate2 C A 9: 35,596,969 (GRCm39) probably benign Het
Pccb T C 9: 100,867,252 (GRCm39) S445G probably damaging Het
Pex3 G A 10: 13,411,315 (GRCm39) Q188* probably null Het
Pikfyve T A 1: 65,231,351 (GRCm39) W74R probably damaging Het
Plcl2 T C 17: 50,914,874 (GRCm39) S628P probably damaging Het
Pom121l2 T A 13: 22,168,572 (GRCm39) C948S probably benign Het
Pspc1 A T 14: 56,999,404 (GRCm39) M284K possibly damaging Het
Ralgapa2 A G 2: 146,277,919 (GRCm39) L414S probably damaging Het
Rgs13 T A 1: 144,016,583 (GRCm39) K53N probably damaging Het
Rorc T C 3: 94,296,291 (GRCm39) S163P probably benign Het
Rpl3l A C 17: 24,952,984 (GRCm39) T315P possibly damaging Het
Rsph3b A G 17: 7,172,438 (GRCm39) V487A probably benign Het
Rusc2 A G 4: 43,416,080 (GRCm39) E462G probably damaging Het
Sez6l T C 5: 112,576,344 (GRCm39) T838A probably damaging Het
Slc22a14 A G 9: 119,008,561 (GRCm39) Y236H probably damaging Het
Sspo G A 6: 48,442,457 (GRCm39) R1984H probably damaging Het
Steap3 G T 1: 120,169,186 (GRCm39) D370E probably benign Het
Sumf1 A G 6: 108,085,393 (GRCm39) probably benign Het
Telo2 T C 17: 25,320,647 (GRCm39) E754G probably damaging Het
Tjp1 A G 7: 64,972,353 (GRCm39) F604L probably damaging Het
Trpm7 A T 2: 126,639,131 (GRCm39) D1734E probably benign Het
Tsfm A C 10: 126,864,242 (GRCm39) Y158D probably damaging Het
Ubtf T C 11: 102,197,591 (GRCm39) probably benign Het
Upk3a G T 15: 84,904,752 (GRCm39) V167F possibly damaging Het
Vmn2r19 C T 6: 123,292,939 (GRCm39) S327L probably benign Het
Vps13c T A 9: 67,858,965 (GRCm39) I2805N probably damaging Het
Zfp592 A G 7: 80,673,534 (GRCm39) D166G possibly 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
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
R6368:Pnldc1 UTSW 17 13,124,751 (GRCm39) missense probably damaging 1.00
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'- TGAGAGAAAGCAGGTTCCTGTG -3'
(R):5'- CGGGGTCCATGCTTAGATAATC -3'

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