Incidental Mutation 'R9038:Pan2'
ID 687548
Institutional Source Beutler Lab
Gene Symbol Pan2
Ensembl Gene ENSMUSG00000005682
Gene Name PAN2 poly(A) specific ribonuclease subunit
Synonyms Usp52, 1200014O24Rik
MMRRC Submission 068866-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9038 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 128139204-128157227 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 128153810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 1003 (Q1003*)
Ref Sequence ENSEMBL: ENSMUSP00000005825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005825] [ENSMUST00000026446] [ENSMUST00000218315] [ENSMUST00000219037] [ENSMUST00000219721] [ENSMUST00000219836]
AlphaFold Q8BGF7
Predicted Effect probably null
Transcript: ENSMUST00000005825
AA Change: Q1003*
SMART Domains Protein: ENSMUSP00000005825
Gene: ENSMUSG00000005682
AA Change: Q1003*

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 benign
Transcript: ENSMUST00000026446
SMART Domains Protein: ENSMUSP00000026446
Gene: ENSMUSG00000025381

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:DUF3456 27 171 1e-43 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000218315
AA Change: Q994*
Predicted Effect probably benign
Transcript: ENSMUST00000219037
Predicted Effect probably null
Transcript: ENSMUST00000219721
AA Change: Q976*
Predicted Effect probably benign
Transcript: ENSMUST00000219836
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 95.4%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A T 12: 118,895,651 (GRCm39) C382S probably benign Het
Abcf2 A G 5: 24,776,191 (GRCm39) V296A possibly damaging Het
Aco2 C G 15: 81,756,620 (GRCm39) probably benign Het
Acvrl1 A G 15: 101,039,011 (GRCm39) D436G possibly damaging Het
Adamts7 A G 9: 90,056,692 (GRCm39) I254V Het
Arhgef18 A G 8: 3,503,257 (GRCm39) I888V probably benign Het
Arhgef40 C A 14: 52,235,072 (GRCm39) A1083D probably damaging Het
Arnt2 C A 7: 83,954,059 (GRCm39) A275S probably benign Het
Brd10 A T 19: 29,731,900 (GRCm39) Y371N possibly damaging Het
Brip1 C T 11: 86,080,599 (GRCm39) V156I probably benign Het
Camk4 C A 18: 33,291,953 (GRCm39) C204* probably null Het
Cenpe A G 3: 134,923,797 (GRCm39) T161A probably benign Het
Chd2 G A 7: 73,105,358 (GRCm39) H1256Y probably damaging Het
Chd9 G A 8: 91,716,233 (GRCm39) V936I unknown Het
D6Ertd527e A G 6: 87,089,233 (GRCm39) *465W probably null Het
Dcaf11 T A 14: 55,803,114 (GRCm39) D309E probably damaging Het
Dtna A G 18: 23,743,553 (GRCm39) N373S probably benign Het
Eif2b2 A G 12: 85,266,897 (GRCm39) D104G probably benign Het
Fras1 A T 5: 96,874,742 (GRCm39) T2302S probably benign Het
Gga1 A G 15: 78,768,321 (GRCm39) K114E probably damaging Het
Gm12887 A G 4: 121,473,616 (GRCm39) probably null Het
Gss A T 2: 155,406,794 (GRCm39) I396N Het
H2-M5 T C 17: 37,299,422 (GRCm39) I199M possibly damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ift172 G T 5: 31,441,399 (GRCm39) T245K possibly damaging Het
Ift70a2 G A 2: 75,808,215 (GRCm39) T99I probably benign Het
Iqck A G 7: 118,498,881 (GRCm39) D173G probably damaging Het
Itga11 A G 9: 62,675,039 (GRCm39) N857S possibly damaging Het
Kdm1b C A 13: 47,202,770 (GRCm39) S68R probably benign Het
Ly6c1 C A 15: 74,917,300 (GRCm39) G116V probably damaging Het
Myo6 G T 9: 80,162,285 (GRCm39) V341L unknown Het
Nfkbie C A 17: 45,870,183 (GRCm39) A176E probably damaging Het
Nlrp2 C T 7: 5,330,478 (GRCm39) M639I probably benign Het
Or10g3 T A 14: 52,609,716 (GRCm39) S265C probably damaging Het
Or10j2 T A 1: 173,098,147 (GRCm39) I135N possibly damaging Het
Or56a41 T C 7: 104,740,433 (GRCm39) I138V probably benign Het
Or5w16 A G 2: 87,577,125 (GRCm39) N195S probably damaging Het
Or6c215 T C 10: 129,637,564 (GRCm39) T277A probably damaging Het
Or8k40 A T 2: 86,584,354 (GRCm39) S243T probably damaging Het
Pak4 G A 7: 28,264,263 (GRCm39) T213M probably damaging Het
Pde4c G C 8: 71,179,550 (GRCm39) V34L probably benign Het
Pi4k2a G A 19: 42,089,235 (GRCm39) V199M probably damaging Het
Platr25 T C 13: 62,848,007 (GRCm39) E285G probably damaging Het
Polr3e T C 7: 120,536,906 (GRCm39) V356A possibly damaging Het
Prcp A G 7: 92,567,017 (GRCm39) D243G probably benign Het
Qsox2 T C 2: 26,115,246 (GRCm39) T161A probably damaging Het
Rhoj A G 12: 75,355,700 (GRCm39) T35A Het
Scn9a T A 2: 66,325,147 (GRCm39) M1336L probably damaging Het
Sel1l2 G T 2: 140,117,384 (GRCm39) N162K probably damaging Het
Slc15a3 T C 19: 10,820,866 (GRCm39) L161P probably damaging Het
Slc4a11 G A 2: 130,533,663 (GRCm39) A100V probably damaging Het
Sp1 A G 15: 102,316,320 (GRCm39) S41G probably benign Het
Tbx15 A G 3: 99,222,085 (GRCm39) M183V probably benign Het
Tfip11 A G 5: 112,481,214 (GRCm39) T397A possibly damaging Het
Themis T C 10: 28,657,749 (GRCm39) S259P probably damaging Het
Tm7sf2 T C 19: 6,117,172 (GRCm39) Y77C probably damaging Het
Tnnt2 C A 1: 135,774,484 (GRCm39) P81H possibly damaging Het
Trpc7 T C 13: 57,035,886 (GRCm39) T16A probably benign Het
Ttn T A 2: 76,745,056 (GRCm39) Y5331F possibly damaging Het
Virma A G 4: 11,526,922 (GRCm39) Q1057R possibly damaging Het
Vmn2r118 A T 17: 55,918,649 (GRCm39) F81Y probably damaging Het
Vmn2r88 T C 14: 51,651,490 (GRCm39) V268A Het
Vmn2r93 T A 17: 18,524,471 (GRCm39) M155K probably benign Het
Vps13b G T 15: 35,875,931 (GRCm39) C2772F possibly damaging Het
Wdr90 T C 17: 26,076,200 (GRCm39) N86D Het
Zbtb34 T C 2: 33,301,248 (GRCm39) D431G probably damaging Het
Zc3h3 G A 15: 75,711,237 (GRCm39) P408L probably benign Het
Zfp345 A G 2: 150,313,864 (GRCm39) Y558H probably benign Het
Zfp583 G A 7: 6,319,543 (GRCm39) P490S probably 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
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
Predicted Primers PCR Primer
(F):5'- GCTGAATGAGATGCCACAGG -3'
(R):5'- AGGTGTGGTCTCTTCCAGTCAC -3'

Sequencing Primer
(F):5'- TGAGATGCCACAGGTCGGG -3'
(R):5'- AGTCACTCTTCTTAGGGTTCTTAAG -3'
Posted On 2021-11-19