Incidental Mutation 'IGL02179:Parn'
ID 283260
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: 0.955) question?
Stock # IGL02179
Quality Score
Status
Chromosome 16
Chromosomal Location 13355828-13486035 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 13485456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 13 (H13Q)
Ref Sequence ENSEMBL: ENSMUSP00000055969 (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: H13Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000055969
Gene: ENSMUSG00000022685
AA Change: H13Q

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 noncoding transcript
Transcript: ENSMUST00000225585
Predicted Effect probably benign
Transcript: ENSMUST00000229042
AA Change: H13Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229251
Predicted Effect probably benign
Transcript: ENSMUST00000231003
AA Change: H13Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229526
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 C A 2: 31,682,261 (GRCm39) A385D probably damaging Het
Ace A G 11: 105,860,615 (GRCm39) D174G probably benign Het
Aldh1l2 A G 10: 83,358,701 (GRCm39) V98A probably benign Het
AU040320 T A 4: 126,729,405 (GRCm39) F522L probably benign Het
Ccdc73 A G 2: 104,737,913 (GRCm39) D3G probably damaging Het
Cdk14 A C 5: 5,153,845 (GRCm39) L199V probably damaging Het
Cdk15 G T 1: 59,370,100 (GRCm39) A381S possibly damaging Het
Cyb5a A G 18: 84,891,280 (GRCm39) I68V probably benign Het
Dock5 G A 14: 68,043,945 (GRCm39) probably benign Het
Fbxw24 T A 9: 109,438,973 (GRCm39) K201* probably null Het
Gm5852 C T 3: 93,635,023 (GRCm39) noncoding transcript Het
Gsdma3 A G 11: 98,526,097 (GRCm39) K274E possibly damaging Het
Hoxa7 T A 6: 52,192,854 (GRCm39) Q178L probably damaging Het
Itgae G T 11: 73,024,844 (GRCm39) V992L probably benign Het
Klk1b26 A G 7: 43,665,736 (GRCm39) N183D probably benign Het
Krt39 A T 11: 99,411,667 (GRCm39) S140T probably damaging Het
Lama2 G A 10: 26,946,360 (GRCm39) T1953I probably benign Het
Mmp1a G A 9: 7,464,273 (GRCm39) R26Q probably benign Het
Myh7b A C 2: 155,456,411 (GRCm39) I175L probably benign Het
Nol11 A G 11: 107,080,082 (GRCm39) M1T probably null Het
Nrxn1 T A 17: 90,937,511 (GRCm39) I641F probably damaging Het
Or51ag1 A C 7: 103,155,934 (GRCm39) L73R probably damaging Het
Or8k3 A T 2: 86,058,591 (GRCm39) C241* probably null Het
Or9i2 T C 19: 13,815,851 (GRCm39) T229A probably benign Het
Pcnx1 T C 12: 81,980,493 (GRCm39) probably benign Het
Pdcd10 T C 3: 75,434,922 (GRCm39) D60G probably damaging Het
Phka2 G A X: 159,337,376 (GRCm39) probably null Het
Ppargc1a A T 5: 51,631,053 (GRCm39) D525E possibly damaging Het
Rad54l2 C A 9: 106,597,589 (GRCm39) R139L probably damaging Het
Rnf20 T C 4: 49,638,712 (GRCm39) V178A probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Sdccag8 C T 1: 176,705,622 (GRCm39) H479Y probably benign Het
Taf8 T C 17: 47,813,158 (GRCm39) T13A probably benign Het
Ttc8 T C 12: 98,930,796 (GRCm39) L270P possibly damaging Het
Ttn G A 2: 76,717,712 (GRCm39) Q365* probably null Het
Uchl1 A G 5: 66,833,637 (GRCm39) Q2R probably benign Het
Ufl1 A G 4: 25,254,896 (GRCm39) V440A probably 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
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 2015-04-16