Incidental Mutation 'IGL02183:Pan2'
ID 284294
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pan2
Ensembl Gene ENSMUSG00000005682
Gene Name PAN2 poly(A) specific ribonuclease subunit
Synonyms Usp52, 1200014O24Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02183
Quality Score
Status
Chromosome 10
Chromosomal Location 128139204-128157227 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128144944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 230 (H230Q)
Ref Sequence ENSEMBL: ENSMUSP00000151216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005825] [ENSMUST00000218315] [ENSMUST00000219721]
AlphaFold Q8BGF7
Predicted Effect possibly damaging
Transcript: ENSMUST00000005825
AA Change: H230Q

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000005825
Gene: ENSMUSG00000005682
AA Change: H230Q

DomainStartEndE-ValueType
low complexity region 67 79 N/A INTRINSIC
SCOP:d1tbga_ 151 357 4e-11 SMART
Blast:WD40 225 271 4e-11 BLAST
low complexity region 412 425 N/A INTRINSIC
Pfam:UCH 515 920 2.6e-15 PFAM
Pfam:UCH_1 516 897 9.7e-70 PFAM
low complexity region 938 949 N/A INTRINSIC
EXOIII 972 1155 1.68e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218137
Predicted Effect possibly damaging
Transcript: ENSMUST00000218315
AA Change: H230Q

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219255
Predicted Effect possibly damaging
Transcript: ENSMUST00000219721
AA Change: H212Q

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219801
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a deadenylase that functions as the catalytic subunit of the polyadenylate binding protein dependent poly(A) nuclease complex. The encoded protein is a magnesium dependent 3' to 5' exoribonuclease that is involved in the degradation of cytoplasmic mRNAs. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace2 T A X: 162,960,465 (GRCm39) probably benign Het
Acsm4 A T 7: 119,293,075 (GRCm39) probably null Het
Apcdd1 T C 18: 63,084,925 (GRCm39) M374T probably damaging Het
Arid4b A G 13: 14,344,575 (GRCm39) E551G possibly damaging Het
Bag4 A T 8: 26,258,058 (GRCm39) L423Q probably damaging Het
Celf1 C T 2: 90,831,831 (GRCm39) P96S probably damaging Het
Cracdl G A 1: 37,664,459 (GRCm39) P480S possibly damaging Het
Cry2 G A 2: 92,243,384 (GRCm39) R486W probably damaging Het
Csn1s1 G A 5: 87,825,477 (GRCm39) S228N possibly damaging Het
Ctnnd2 A G 15: 31,020,886 (GRCm39) Y1124C probably damaging Het
Cyp2j7 T C 4: 96,118,384 (GRCm39) probably benign Het
Dock7 A T 4: 98,847,228 (GRCm39) C1695S possibly damaging Het
Elmo3 T C 8: 106,034,955 (GRCm39) L415P probably benign Het
Entpd5 A G 12: 84,427,154 (GRCm39) probably benign Het
Gpatch11 T C 17: 79,149,660 (GRCm39) probably null Het
Gprin3 C A 6: 59,330,147 (GRCm39) R720I possibly damaging Het
Gria4 T G 9: 4,502,460 (GRCm39) T358P probably damaging Het
Hcn2 T C 10: 79,560,647 (GRCm39) probably null Het
Hivep3 A G 4: 119,989,221 (GRCm39) T1891A probably benign Het
Hmgcr A G 13: 96,799,635 (GRCm39) V153A probably damaging Het
Ifnar1 T C 16: 91,302,034 (GRCm39) V503A possibly damaging Het
Igf2r G A 17: 12,917,403 (GRCm39) probably benign Het
Ighg2b A G 12: 113,271,449 (GRCm39) S35P unknown Het
Jmy T C 13: 93,635,750 (GRCm39) D22G possibly damaging Het
Kdm5b T C 1: 134,552,669 (GRCm39) I1215T probably benign Het
Krt84 T C 15: 101,440,791 (GRCm39) I134V unknown Het
Magi3 T A 3: 103,992,663 (GRCm39) M270L probably benign Het
Maneal G A 4: 124,754,209 (GRCm39) T198I probably benign Het
Map7d3 A G X: 55,867,591 (GRCm39) probably benign Het
Myh7 T A 14: 55,212,188 (GRCm39) T1519S probably benign Het
Myo5a T C 9: 75,074,518 (GRCm39) probably benign Het
Naip5 T C 13: 100,358,150 (GRCm39) S1029G probably benign Het
Or14j1 G T 17: 38,146,304 (GRCm39) C138F probably damaging Het
Or4c11c A T 2: 88,662,372 (GRCm39) I304F probably benign Het
Or4g16 T A 2: 111,136,763 (GRCm39) V71E probably damaging Het
Or5d14 T C 2: 87,880,333 (GRCm39) T212A possibly damaging Het
Or5k15 T A 16: 58,710,184 (GRCm39) Q133L probably benign Het
Pald1 A T 10: 61,182,920 (GRCm39) probably benign Het
Pcdh9 T C 14: 94,123,720 (GRCm39) I817V probably benign Het
Piezo2 A G 18: 63,153,705 (GRCm39) S2547P probably benign Het
Ppargc1b T A 18: 61,442,167 (GRCm39) probably null Het
Prdm6 T C 18: 53,597,749 (GRCm39) probably benign Het
Prr5l A T 2: 101,602,465 (GRCm39) probably benign Het
Rab3gap2 T A 1: 185,003,665 (GRCm39) L1020* probably null Het
Rhbdf1 T C 11: 32,160,543 (GRCm39) H669R probably damaging Het
Rnf150 A T 8: 83,730,234 (GRCm39) I255F probably damaging Het
Rnf17 T A 14: 56,745,325 (GRCm39) D1360E probably null Het
Sag T C 1: 87,756,197 (GRCm39) probably null Het
Scn2a C T 2: 65,501,947 (GRCm39) T90I probably benign Het
Scn9a T A 2: 66,314,955 (GRCm39) probably benign Het
Serpinb13 T C 1: 106,926,640 (GRCm39) M212T probably damaging Het
Slc39a14 C T 14: 70,544,134 (GRCm39) G484E possibly damaging Het
Slco1a1 A T 6: 141,867,669 (GRCm39) probably benign Het
Slitrk3 A T 3: 72,957,312 (GRCm39) Y487N probably damaging Het
Stkld1 T C 2: 26,836,671 (GRCm39) M279T probably benign Het
Tmem161b T C 13: 84,420,373 (GRCm39) Y125H probably damaging Het
Tmem71 A G 15: 66,426,874 (GRCm39) probably benign Het
Ubxn7 T C 16: 32,188,201 (GRCm39) F142L probably damaging Het
Vmn2r22 A G 6: 123,614,963 (GRCm39) L209P probably damaging Het
Wdr73 A T 7: 80,543,508 (GRCm39) W136R probably damaging Het
Wif1 C T 10: 120,911,181 (GRCm39) R107C probably damaging Het
Ythdf2 G T 4: 131,932,885 (GRCm39) L92M probably benign Het
Zfp53 T A 17: 21,720,512 (GRCm39) I34N possibly damaging Het
Zpld2 A G 4: 133,929,291 (GRCm39) L338S probably benign Het
Other mutations in Pan2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Pan2 APN 10 128,148,795 (GRCm39) nonsense probably null
IGL02219:Pan2 APN 10 128,156,221 (GRCm39) missense probably benign 0.04
IGL02514:Pan2 APN 10 128,146,610 (GRCm39) missense possibly damaging 0.94
IGL02552:Pan2 APN 10 128,154,896 (GRCm39) missense probably damaging 1.00
IGL02623:Pan2 APN 10 128,148,768 (GRCm39) missense probably benign
IGL02860:Pan2 APN 10 128,146,604 (GRCm39) nonsense probably null
IGL03104:Pan2 APN 10 128,151,532 (GRCm39) splice site probably benign
IGL03372:Pan2 APN 10 128,150,996 (GRCm39) missense probably benign 0.09
R0541:Pan2 UTSW 10 128,144,091 (GRCm39) missense possibly damaging 0.87
R0585:Pan2 UTSW 10 128,146,384 (GRCm39) critical splice donor site probably null
R1079:Pan2 UTSW 10 128,154,107 (GRCm39) missense probably damaging 0.99
R1650:Pan2 UTSW 10 128,153,768 (GRCm39) missense probably damaging 1.00
R1847:Pan2 UTSW 10 128,140,247 (GRCm39) missense possibly damaging 0.71
R1867:Pan2 UTSW 10 128,149,050 (GRCm39) missense probably damaging 1.00
R1903:Pan2 UTSW 10 128,144,237 (GRCm39) missense probably damaging 0.98
R1975:Pan2 UTSW 10 128,156,282 (GRCm39) missense probably damaging 0.99
R1976:Pan2 UTSW 10 128,156,282 (GRCm39) missense probably damaging 0.99
R1977:Pan2 UTSW 10 128,156,282 (GRCm39) missense probably damaging 0.99
R2136:Pan2 UTSW 10 128,149,506 (GRCm39) missense possibly damaging 0.95
R2162:Pan2 UTSW 10 128,140,091 (GRCm39) missense possibly damaging 0.90
R2512:Pan2 UTSW 10 128,140,326 (GRCm39) missense probably damaging 1.00
R2566:Pan2 UTSW 10 128,149,766 (GRCm39) missense probably damaging 1.00
R2900:Pan2 UTSW 10 128,144,211 (GRCm39) missense probably benign
R3957:Pan2 UTSW 10 128,151,046 (GRCm39) missense probably damaging 0.99
R4571:Pan2 UTSW 10 128,144,512 (GRCm39) missense probably benign 0.05
R5112:Pan2 UTSW 10 128,151,464 (GRCm39) nonsense probably null
R5120:Pan2 UTSW 10 128,150,864 (GRCm39) critical splice donor site probably null
R5183:Pan2 UTSW 10 128,153,838 (GRCm39) missense probably damaging 1.00
R5325:Pan2 UTSW 10 128,153,503 (GRCm39) missense possibly damaging 0.59
R5539:Pan2 UTSW 10 128,144,002 (GRCm39) missense probably benign 0.16
R5642:Pan2 UTSW 10 128,143,969 (GRCm39) missense probably benign 0.00
R5740:Pan2 UTSW 10 128,144,033 (GRCm39) missense probably damaging 1.00
R5822:Pan2 UTSW 10 128,156,249 (GRCm39) missense probably damaging 1.00
R6766:Pan2 UTSW 10 128,150,381 (GRCm39) missense possibly damaging 0.79
R6902:Pan2 UTSW 10 128,151,506 (GRCm39) missense probably benign 0.33
R6946:Pan2 UTSW 10 128,151,506 (GRCm39) missense probably benign 0.33
R7206:Pan2 UTSW 10 128,150,414 (GRCm39) nonsense probably null
R7490:Pan2 UTSW 10 128,144,309 (GRCm39) missense probably benign 0.00
R7715:Pan2 UTSW 10 128,153,592 (GRCm39) missense probably benign 0.00
R7794:Pan2 UTSW 10 128,152,396 (GRCm39) splice site probably null
R8286:Pan2 UTSW 10 128,154,189 (GRCm39) missense probably damaging 1.00
R9038:Pan2 UTSW 10 128,153,810 (GRCm39) nonsense probably null
R9057:Pan2 UTSW 10 128,156,141 (GRCm39) missense probably damaging 1.00
R9072:Pan2 UTSW 10 128,151,050 (GRCm39) missense probably damaging 0.98
R9073:Pan2 UTSW 10 128,151,050 (GRCm39) missense probably damaging 0.98
R9077:Pan2 UTSW 10 128,148,856 (GRCm39) missense probably damaging 1.00
R9583:Pan2 UTSW 10 128,140,135 (GRCm39) missense probably benign
R9787:Pan2 UTSW 10 128,144,223 (GRCm39) missense probably benign 0.05
RF005:Pan2 UTSW 10 128,151,404 (GRCm39) missense probably benign 0.00
RF024:Pan2 UTSW 10 128,151,404 (GRCm39) missense probably benign 0.00
Z1177:Pan2 UTSW 10 128,150,368 (GRCm39) missense probably damaging 0.97
Z1177:Pan2 UTSW 10 128,140,279 (GRCm39) missense possibly damaging 0.94
Posted On 2015-04-16