Incidental Mutation 'IGL00987:Parn'
ID 29211
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Parn
Ensembl Gene ENSMUSG00000022685
Gene Name poly(A)-specific ribonuclease (deadenylation nuclease)
Synonyms DAN, 1200003I18Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # IGL00987
Quality Score
Status
Chromosome 16
Chromosomal Location 13355828-13486035 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13485467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 10 (I10V)
Ref Sequence ENSEMBL: ENSMUSP00000155335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023365] [ENSMUST00000035426] [ENSMUST00000058884] [ENSMUST00000069281] [ENSMUST00000127973] [ENSMUST00000229042] [ENSMUST00000231003]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023365
SMART Domains Protein: ENSMUSP00000023365
Gene: ENSMUSG00000022684

DomainStartEndE-ValueType
RING 34 73 2.71e-6 SMART
transmembrane domain 142 164 N/A INTRINSIC
SAM 179 249 1.82e-6 SMART
transmembrane domain 361 380 N/A INTRINSIC
transmembrane domain 407 429 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000035426
SMART Domains Protein: ENSMUSP00000041742
Gene: ENSMUSG00000079737

DomainStartEndE-ValueType
low complexity region 68 78 N/A INTRINSIC
low complexity region 97 114 N/A INTRINSIC
low complexity region 162 171 N/A INTRINSIC
Pfam:Lge1 226 301 8e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058884
AA Change: I10V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000055969
Gene: ENSMUSG00000022685
AA Change: I10V

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: ENSMUST00000069281
SMART Domains Protein: ENSMUSP00000063371
Gene: ENSMUSG00000022684

DomainStartEndE-ValueType
RING 34 73 2.71e-6 SMART
low complexity region 86 97 N/A INTRINSIC
PDB:1V85|A 98 123 2e-8 PDB
Blast:SAM 98 124 2e-8 BLAST
transmembrane domain 236 255 N/A INTRINSIC
transmembrane domain 282 304 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127973
SMART Domains Protein: ENSMUSP00000115585
Gene: ENSMUSG00000022684

DomainStartEndE-ValueType
RING 34 73 2.71e-6 SMART
transmembrane domain 142 161 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132349
Predicted Effect probably benign
Transcript: ENSMUST00000229042
AA Change: I10V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000231003
AA Change: I10V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229526
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225585
Coding Region Coverage
Validation Efficiency
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot9 T C X: 154,078,177 (GRCm39) I241T probably benign Het
Atp5mc3 T A 2: 73,740,270 (GRCm39) R19* probably null Het
Celf4 T C 18: 25,620,007 (GRCm39) D420G probably damaging Het
Cideb C A 14: 55,992,017 (GRCm39) R179L possibly damaging Het
Cmtr1 G A 17: 29,916,143 (GRCm39) R591H probably benign Het
Dync1li2 A T 8: 105,169,130 (GRCm39) S34T possibly damaging Het
Eri2 A G 7: 119,390,389 (GRCm39) Y80H probably damaging Het
Eya2 A G 2: 165,596,401 (GRCm39) E304G probably damaging Het
Fam135a A C 1: 24,094,979 (GRCm39) L130V probably damaging Het
Fancb A T X: 163,774,594 (GRCm39) K410N probably damaging Het
Gabpb2 A C 3: 95,107,502 (GRCm39) V191G probably damaging Het
Gfm1 A G 3: 67,345,893 (GRCm39) H197R possibly damaging Het
Gm11595 A G 11: 99,663,365 (GRCm39) V105A unknown Het
Hectd3 T A 4: 116,856,840 (GRCm39) D462E probably damaging Het
Herc1 G T 9: 66,315,334 (GRCm39) V1139L probably benign Het
Itgal T C 7: 126,901,183 (GRCm39) F190L probably damaging Het
Krt87 G A 15: 101,336,327 (GRCm39) H109Y probably benign Het
Lmf2 T C 15: 89,238,771 (GRCm39) Y115C probably benign Het
Papolg T A 11: 23,826,377 (GRCm39) Y259F possibly damaging Het
Pdcd11 T A 19: 47,102,989 (GRCm39) probably benign Het
Phldb2 T A 16: 45,583,465 (GRCm39) Q1003L possibly damaging Het
Pigg T A 5: 108,489,944 (GRCm39) F850I probably damaging Het
Pkp4 T C 2: 59,138,701 (GRCm39) L317P probably damaging Het
Polr2a T C 11: 69,634,620 (GRCm39) probably benign Het
Prdm16 G A 4: 154,426,426 (GRCm39) T453M possibly damaging Het
Rnf144b A T 13: 47,360,969 (GRCm39) E36D possibly damaging Het
Ryr2 G A 13: 11,750,388 (GRCm39) T1961I probably damaging Het
Sash1 T A 10: 8,627,177 (GRCm39) K305I probably damaging Het
Tbc1d7 A T 13: 43,312,797 (GRCm39) I32N probably damaging Het
Thop1 T C 10: 80,917,529 (GRCm39) F623L probably damaging Het
Thsd7b G A 1: 129,541,016 (GRCm39) G297R probably damaging Het
Tln1 C A 4: 43,551,297 (GRCm39) probably benign Het
Vmn1r183 A G 7: 23,754,649 (GRCm39) N151D probably damaging Het
Other mutations in Parn
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4476: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
Posted On 2013-04-17