Incidental Mutation 'R9073:Pan2'
ID 692889
Institutional Source Beutler Lab
Gene Symbol Pan2
Ensembl Gene ENSMUSG00000005682
Gene Name PAN2 poly(A) specific ribonuclease subunit
Synonyms Usp52, 1200014O24Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9073 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 128139204-128157227 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128151050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 807 (M807T)
Ref Sequence ENSEMBL: ENSMUSP00000005825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005825] [ENSMUST00000218315] [ENSMUST00000219721]
AlphaFold Q8BGF7
Predicted Effect probably damaging
Transcript: ENSMUST00000005825
AA Change: M807T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005825
Gene: ENSMUSG00000005682
AA Change: M807T

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 probably damaging
Transcript: ENSMUST00000218315
AA Change: M807T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000219721
AA Change: M789T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (79/80)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T A 6: 86,921,374 (GRCm39) Y190* probably null Het
Agbl3 T C 6: 34,776,387 (GRCm39) C298R probably damaging Het
Ankrd26 T A 6: 118,500,350 (GRCm39) K1040N probably damaging Het
Ano3 T A 2: 110,576,243 (GRCm39) T93S probably benign Het
Apoc3 T A 9: 46,144,532 (GRCm39) I97F probably benign Het
Arid5a A G 1: 36,358,626 (GRCm39) E401G probably benign Het
Atxn3 T C 12: 101,903,730 (GRCm39) probably null Het
Brca1 C T 11: 101,393,306 (GRCm39) probably null Het
C1ql3 T A 2: 13,015,198 (GRCm39) N154I probably damaging Het
Calcoco2 GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,808 (GRCm39) probably benign Het
Ccdc110 A T 8: 46,395,875 (GRCm39) M589L probably benign Het
Ccnb2 A T 9: 70,318,095 (GRCm39) F226I possibly damaging Het
Clasp1 C A 1: 118,390,193 (GRCm39) probably null Het
Commd8 TTGTCATCT TT 5: 72,318,327 (GRCm39) probably null Het
Dis3 T C 14: 99,332,647 (GRCm39) T262A probably benign Het
Eif4a2 G A 16: 22,929,403 (GRCm39) R234Q probably benign Het
Ephx2 G A 14: 66,323,688 (GRCm39) R481* probably null Het
Fbxo15 T C 18: 84,983,645 (GRCm39) I331T possibly damaging Het
Gfra2 A G 14: 71,138,935 (GRCm39) E121G possibly damaging Het
Git1 G A 11: 77,389,901 (GRCm39) A55T probably benign Het
Gm12887 G T 4: 121,479,238 (GRCm39) probably null Het
Hfm1 T C 5: 107,046,146 (GRCm39) I553V probably benign Het
Hydin G A 8: 110,994,083 (GRCm39) probably null Het
Iqgap3 A G 3: 88,016,773 (GRCm39) N1085S Het
Kbtbd12 T C 6: 88,595,422 (GRCm39) Y136C probably damaging Het
Kcng3 A G 17: 83,938,423 (GRCm39) Y209H possibly damaging Het
Kcnj2 A T 11: 110,962,664 (GRCm39) M19L possibly damaging Het
Lonrf2 A T 1: 38,850,867 (GRCm39) F232I probably damaging Het
Lrrc31 T C 3: 30,753,859 (GRCm39) D14G probably benign Het
Ly6l G A 15: 75,321,585 (GRCm39) V62I possibly damaging Het
Marchf8 T C 6: 116,378,884 (GRCm39) F273L probably benign Het
Masp1 A C 16: 23,288,671 (GRCm39) S710A probably benign Het
Mcm10 G A 2: 5,013,414 (GRCm39) R73C possibly damaging Het
Mcm5 G A 8: 75,852,934 (GRCm39) R682H probably damaging Het
Mink1 C T 11: 70,499,207 (GRCm39) T684I possibly damaging Het
Mocos A T 18: 24,797,089 (GRCm39) Q83L probably damaging Het
Nags T C 11: 102,038,347 (GRCm39) L351P probably damaging Het
Nalcn G A 14: 123,532,863 (GRCm39) T1299I possibly damaging Het
Nlrp4b A G 7: 10,459,870 (GRCm39) D824G probably benign Het
Nwd1 A T 8: 73,422,046 (GRCm39) M1031L probably benign Het
Or11g27 C T 14: 50,771,211 (GRCm39) T114I probably benign Het
Or4c101 A C 2: 88,390,658 (GRCm39) I271L probably benign Het
Or4k40 A T 2: 111,250,705 (GRCm39) I197N possibly damaging Het
Or56b1 C T 7: 104,285,291 (GRCm39) R137C probably benign Het
Or5b112 A G 19: 13,319,238 (GRCm39) T39A possibly damaging Het
Or5d37 T A 2: 87,924,172 (GRCm39) Q36L probably benign Het
Parp8 A T 13: 117,047,951 (GRCm39) I222N probably damaging Het
Pmm1 C T 15: 81,839,896 (GRCm39) R143H probably damaging Het
Pou1f1 T C 16: 65,328,833 (GRCm39) L186P Het
Ppargc1b G A 18: 61,443,730 (GRCm39) R494W probably damaging Het
Prg4 G T 1: 150,331,288 (GRCm39) P462T unknown Het
Ptcd1 T A 5: 145,091,525 (GRCm39) I525L probably benign Het
Ptchd4 A T 17: 42,813,650 (GRCm39) Y517F probably damaging Het
Pum1 T C 4: 130,480,172 (GRCm39) F693S probably damaging Het
Rad51b T G 12: 79,344,439 (GRCm39) probably benign Het
Rgs12 A T 5: 35,177,753 (GRCm39) probably benign Het
Ribc2 A C 15: 85,022,163 (GRCm39) Q186P probably damaging Het
Sesn2 C A 4: 132,224,195 (GRCm39) probably null Het
Sgf29 G A 7: 126,271,826 (GRCm39) V284M probably damaging Het
Skap2 C T 6: 51,856,750 (GRCm39) probably null Het
Smap1 T A 1: 23,961,154 (GRCm39) E28V probably damaging Het
Smc3 A G 19: 53,617,200 (GRCm39) N538D probably benign Het
Spen T C 4: 141,203,702 (GRCm39) T1642A unknown Het
Spred3 G A 7: 28,865,955 (GRCm39) R115* probably null Het
Sugt1 T A 14: 79,866,293 (GRCm39) M304K possibly damaging Het
Sval1 T C 6: 41,928,606 (GRCm39) I6T possibly damaging Het
Svil T C 18: 5,097,500 (GRCm39) I1574T probably benign Het
Ticrr T A 7: 79,317,679 (GRCm39) D404E probably benign Het
Tinag T A 9: 76,904,300 (GRCm39) probably null Het
Tpbg A T 9: 85,724,924 (GRCm39) probably null Het
Trak1 T C 9: 121,289,554 (GRCm39) L622P probably damaging Het
Ttn C T 2: 76,586,218 (GRCm39) D21838N probably damaging Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn1r73 C T 7: 11,490,203 (GRCm39) A7V probably benign Het
Yy1 G T 12: 108,759,921 (GRCm39) G195C probably benign Het
Zbtb17 T A 4: 141,193,676 (GRCm39) C607S possibly damaging Het
Zfp735 T C 11: 73,603,060 (GRCm39) V668A probably benign Het
Zfp819 C A 7: 43,266,570 (GRCm39) T351K probably damaging Het
Zfp820 C A 17: 22,039,031 (GRCm39) S99I possibly damaging Het
Other mutations in Pan2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Pan2 APN 10 128,148,795 (GRCm39) nonsense probably null
IGL02183:Pan2 APN 10 128,144,944 (GRCm39) missense possibly damaging 0.74
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
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
Predicted Primers PCR Primer
(F):5'- TCAGACGGTGGAGCTACTTG -3'
(R):5'- AGGGTATCTCCATTTTAGCCCAC -3'

Sequencing Primer
(F):5'- GCTGGTCTCTCTCTCCACTGG -3'
(R):5'- GAACTGGTAAGCGTACGTTTTATTCC -3'
Posted On 2021-12-30