Incidental Mutation 'R0002:Patl2'
ID8199
Institutional Source Beutler Lab
Gene Symbol Patl2
Ensembl Gene ENSMUSG00000027233
Gene Nameprotein associated with topoisomerase II homolog 2 (yeast)
SynonymsPat1a, 4930424G05Rik
MMRRC Submission 038298-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.104) question?
Stock #R0002 (G1)
Quality Score
Status Validated
Chromosome2
Chromosomal Location122120108-122186189 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 122125710 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028665]
Predicted Effect probably benign
Transcript: ENSMUST00000028665
SMART Domains Protein: ENSMUSP00000028665
Gene: ENSMUSG00000027233

DomainStartEndE-ValueType
low complexity region 33 41 N/A INTRINSIC
low complexity region 143 165 N/A INTRINSIC
low complexity region 215 227 N/A INTRINSIC
Pfam:PAT1 247 490 6.7e-12 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 85.4%
  • 3x: 79.5%
  • 10x: 62.0%
  • 20x: 53.1%
Validation Efficiency 95% (61/64)
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630095E13Rik A T 9: 36,637,359 D59E probably damaging Het
Aco1 T C 4: 40,176,649 probably benign Het
Bcl2 T C 1: 106,712,511 R124G possibly damaging Het
Bri3 G T 5: 144,244,502 C6F probably benign Het
Chn2 A G 6: 54,273,113 N69S probably benign Het
Col5a3 T A 9: 20,809,856 probably null Het
Dhx36 A C 3: 62,480,839 L625W probably damaging Het
Exph5 G T 9: 53,373,956 R779I probably damaging Het
F5 T C 1: 164,201,631 F1733S probably damaging Het
Hsh2d G A 8: 72,200,460 D229N probably benign Het
Iqch T C 9: 63,594,743 probably benign Het
Lgr6 C T 1: 134,994,010 A199T probably damaging Het
Pik3c2g A G 6: 139,768,745 T208A probably benign Het
Prkag3 T C 1: 74,744,788 D312G probably damaging Het
Slc26a5 T A 5: 21,814,983 I530F probably damaging Het
Tacc2 T A 7: 130,621,785 S67T probably damaging Het
Tas2r113 T A 6: 132,893,779 S257T probably benign Het
Tnr T C 1: 159,874,200 Y624H probably damaging Het
Ubr4 T C 4: 139,390,900 L112P probably damaging Het
Other mutations in Patl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Patl2 APN 2 122123810 missense probably benign 0.19
IGL01780:Patl2 APN 2 122121846 missense probably damaging 1.00
IGL02604:Patl2 APN 2 122125333 missense possibly damaging 0.80
IGL02713:Patl2 APN 2 122125847 missense probably benign 0.01
IGL02990:Patl2 APN 2 122124497 critical splice acceptor site probably null
FR4304:Patl2 UTSW 2 122126135 small insertion probably benign
FR4548:Patl2 UTSW 2 122126135 small insertion probably benign
FR4737:Patl2 UTSW 2 122126136 small insertion probably benign
FR4737:Patl2 UTSW 2 122126144 nonsense probably null
FR4737:Patl2 UTSW 2 122126145 small insertion probably benign
FR4976:Patl2 UTSW 2 122126139 small insertion probably benign
FR4976:Patl2 UTSW 2 122126141 small insertion probably benign
FR4976:Patl2 UTSW 2 122126144 small insertion probably benign
FR4976:Patl2 UTSW 2 122126145 small insertion probably benign
R0001:Patl2 UTSW 2 122125710 splice site probably benign
R0540:Patl2 UTSW 2 122126669 missense probably benign
R0570:Patl2 UTSW 2 122125308 missense probably damaging 0.99
R0607:Patl2 UTSW 2 122126669 missense probably benign
R1463:Patl2 UTSW 2 122123735 missense probably benign 0.38
R2992:Patl2 UTSW 2 122125754 missense probably damaging 0.97
R4329:Patl2 UTSW 2 122127537 missense probably benign 0.01
R4583:Patl2 UTSW 2 122126745 missense probably benign 0.00
R4737:Patl2 UTSW 2 122125306 missense probably damaging 1.00
R4965:Patl2 UTSW 2 122128848 nonsense probably null
R5091:Patl2 UTSW 2 122123802 missense probably benign 0.01
R5256:Patl2 UTSW 2 122128887 missense probably damaging 1.00
R5450:Patl2 UTSW 2 122125281 missense probably benign 0.00
R5990:Patl2 UTSW 2 122124484 missense probably damaging 1.00
R6028:Patl2 UTSW 2 122126137 missense possibly damaging 0.76
R6107:Patl2 UTSW 2 122127486 missense probably damaging 0.98
R6597:Patl2 UTSW 2 122186164 start gained probably benign
R6969:Patl2 UTSW 2 122128929 missense possibly damaging 0.52
R7131:Patl2 UTSW 2 122121782 critical splice donor site probably null
R7436:Patl2 UTSW 2 122127525 missense probably benign 0.00
R7718:Patl2 UTSW 2 122126774 intron probably null
R7852:Patl2 UTSW 2 122179109 unclassified probably benign
Posted On2012-11-20