Incidental Mutation 'R4476:Parn'
ID 330573
Institutional Source Beutler Lab
Gene Symbol Parn
Ensembl Gene ENSMUSG00000022685
Gene Name poly(A)-specific ribonuclease (deadenylation nuclease)
Synonyms DAN, 1200003I18Rik
MMRRC Submission 041733-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R4476 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 13355828-13486035 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13482549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 100 (S100P)
Ref Sequence ENSEMBL: ENSMUSP00000055969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058884] [ENSMUST00000229042] [ENSMUST00000231003]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000058884
AA Change: S100P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000055969
Gene: ENSMUSG00000022685
AA Change: S100P

DomainStartEndE-ValueType
Pfam:CAF1 3 383 2.7e-86 PFAM
Pfam:R3H 172 236 2.8e-13 PFAM
Pfam:RNA_bind 430 508 2.2e-37 PFAM
low complexity region 564 578 N/A INTRINSIC
low complexity region 591 606 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229526
Predicted Effect probably benign
Transcript: ENSMUST00000231003
AA Change: S100P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0754 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 98% (41/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a 3'-exoribonuclease, with similarity to the RNase D family of 3'-exonucleases. It prefers poly(A) as the substrate, hence, efficiently degrades poly(A) tails of mRNAs. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs. This protein is also involved in silencing of certain maternal mRNAs during oocyte maturation and early embryonic development, as well as in nonsense-mediated decay (NMD) of mRNAs that contain premature stop codons. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 T C 14: 54,882,787 (GRCm39) R275G probably damaging Het
Actc1 T C 2: 113,879,707 (GRCm39) T251A probably benign Het
Alpk1 T C 3: 127,473,667 (GRCm39) T779A probably damaging Het
Arsb C T 13: 93,944,103 (GRCm39) R265C probably damaging Het
Cntn6 A G 6: 104,749,522 (GRCm39) E319G probably damaging Het
Cracr2a T A 6: 127,606,782 (GRCm39) N275K probably benign Het
Crispld1 G T 1: 17,817,734 (GRCm39) W212C probably damaging Het
Exosc10 G A 4: 148,649,781 (GRCm39) D404N probably damaging Het
Gfpt2 T C 11: 49,715,169 (GRCm39) V388A probably benign Het
Gm14401 C T 2: 176,778,570 (GRCm39) R219* probably null Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Itgb1bp1 T C 12: 21,320,957 (GRCm39) E178G probably benign Het
Kidins220 C T 12: 25,061,000 (GRCm39) S826L probably damaging Het
Krt90 T C 15: 101,465,718 (GRCm39) D301G probably damaging Het
Me3 T A 7: 89,389,068 (GRCm39) V124E probably damaging Het
Nedd4 C T 9: 72,578,521 (GRCm39) R78* probably null Het
Neto1 A T 18: 86,422,798 (GRCm39) D85V probably damaging Het
Or12k8 G A 2: 36,975,073 (GRCm39) S229L probably damaging Het
Or13a24 T C 7: 140,154,842 (GRCm39) Y259H probably damaging Het
Or4g7 T A 2: 111,310,009 (GRCm39) D293E possibly damaging Het
Pkd1 A G 17: 24,795,500 (GRCm39) E2331G probably damaging Het
Rab22a C T 2: 173,537,056 (GRCm39) T85M probably damaging Het
Rab23 A G 1: 33,763,973 (GRCm39) probably benign Het
Sim2 T C 16: 93,926,650 (GRCm39) S625P probably benign Het
Sox18 T C 2: 181,312,669 (GRCm39) K154R probably damaging Het
Tanc1 A G 2: 59,672,340 (GRCm39) probably null Het
Ugt1a10 TAAAAAAAAA TAAAAAAA 1: 88,143,650 (GRCm39) probably benign Het
Zfp667 A G 7: 6,307,598 (GRCm39) K89E possibly damaging Het
Other mutations in Parn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Parn APN 16 13,485,467 (GRCm39) missense probably benign
IGL02030:Parn APN 16 13,482,514 (GRCm39) splice site probably null
IGL02179:Parn APN 16 13,485,456 (GRCm39) missense probably benign 0.00
IGL02336:Parn APN 16 13,384,567 (GRCm39) missense probably damaging 1.00
arlette UTSW 16 13,424,035 (GRCm39) missense probably damaging 1.00
PIT4453001:Parn UTSW 16 13,425,145 (GRCm39) missense probably benign 0.00
PIT4651001:Parn UTSW 16 13,449,431 (GRCm39) missense probably benign 0.25
R0388:Parn UTSW 16 13,472,340 (GRCm39) missense possibly damaging 0.72
R0485:Parn UTSW 16 13,472,299 (GRCm39) splice site probably benign
R0625:Parn UTSW 16 13,458,158 (GRCm39) missense probably benign 0.02
R1104:Parn UTSW 16 13,485,449 (GRCm39) missense probably damaging 0.99
R1299:Parn UTSW 16 13,482,593 (GRCm39) missense probably benign 0.10
R1356:Parn UTSW 16 13,468,538 (GRCm39) nonsense probably null
R2067:Parn UTSW 16 13,420,933 (GRCm39) missense probably damaging 1.00
R2111:Parn UTSW 16 13,420,933 (GRCm39) missense probably damaging 1.00
R2397:Parn UTSW 16 13,384,518 (GRCm39) missense probably benign
R4473:Parn UTSW 16 13,482,549 (GRCm39) missense probably benign 0.00
R4474:Parn UTSW 16 13,482,549 (GRCm39) missense probably benign 0.00
R4475:Parn UTSW 16 13,482,549 (GRCm39) missense probably benign 0.00
R4665:Parn UTSW 16 13,358,967 (GRCm39) missense probably benign 0.19
R4795:Parn UTSW 16 13,424,066 (GRCm39) missense probably benign 0.06
R5122:Parn UTSW 16 13,472,311 (GRCm39) critical splice donor site probably null
R5226:Parn UTSW 16 13,443,416 (GRCm39) missense probably benign
R5355:Parn UTSW 16 13,485,886 (GRCm39) missense possibly damaging 0.92
R5570:Parn UTSW 16 13,483,794 (GRCm39) missense probably damaging 0.98
R5979:Parn UTSW 16 13,424,035 (GRCm39) missense probably damaging 1.00
R6009:Parn UTSW 16 13,485,428 (GRCm39) missense probably damaging 1.00
R6173:Parn UTSW 16 13,469,675 (GRCm39) missense possibly damaging 0.82
R6493:Parn UTSW 16 13,474,789 (GRCm39) missense probably damaging 1.00
R7055:Parn UTSW 16 13,443,998 (GRCm39) missense possibly damaging 0.80
R7278:Parn UTSW 16 13,443,927 (GRCm39) splice site probably null
R7391:Parn UTSW 16 13,485,870 (GRCm39) splice site probably null
R7706:Parn UTSW 16 13,425,117 (GRCm39) missense probably damaging 1.00
R8188:Parn UTSW 16 13,359,020 (GRCm39) missense probably benign 0.01
R8317:Parn UTSW 16 13,358,964 (GRCm39) missense probably damaging 0.96
R8326:Parn UTSW 16 13,483,835 (GRCm39) missense probably benign 0.00
R8419:Parn UTSW 16 13,466,338 (GRCm39) missense probably benign 0.11
R8433:Parn UTSW 16 13,485,413 (GRCm39) missense probably damaging 1.00
R8475:Parn UTSW 16 13,425,113 (GRCm39) critical splice donor site probably null
R8847:Parn UTSW 16 13,446,270 (GRCm39) nonsense probably null
R8958:Parn UTSW 16 13,466,322 (GRCm39) missense possibly damaging 0.64
R8988:Parn UTSW 16 13,466,281 (GRCm39) critical splice donor site probably null
R9277:Parn UTSW 16 13,482,519 (GRCm39) critical splice donor site probably null
R9476:Parn UTSW 16 13,358,942 (GRCm39) missense probably benign 0.10
R9510:Parn UTSW 16 13,358,942 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- GGTGAGATAATTTACCCAAAGCC -3'
(R):5'- AGAAACCTGGCTCTCCTGTG -3'

Sequencing Primer
(F):5'- GGGCATCATATAGTCCAGACTGC -3'
(R):5'- AGCATTCCATGGACTTTTTGCTG -3'
Posted On 2015-07-21