Incidental Mutation 'R7852:Patl2'
ID 606969
Institutional Source Beutler Lab
Gene Symbol Patl2
Ensembl Gene ENSMUSG00000027233
Gene Name protein associated with topoisomerase II homolog 2 (yeast)
Synonyms Pat1a, 4930424G05Rik
MMRRC Submission 045905-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R7852 (G1)
Quality Score 221.009
Status Not validated
Chromosome 2
Chromosomal Location 121950589-122016670 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 122009590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000047627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028665] [ENSMUST00000036089]
AlphaFold A2ARM1
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
Predicted Effect probably benign
Transcript: ENSMUST00000036089
SMART Domains Protein: ENSMUSP00000047627
Gene: ENSMUSG00000033368

DomainStartEndE-ValueType
RING 42 82 8.48e-8 SMART
low complexity region 95 111 N/A INTRINSIC
PDB:4NQJ|C 144 322 2e-86 PDB
PRY 323 375 9.37e-19 SMART
SPRY 376 500 4.97e-24 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik GTGT GTGTTTGT 11: 43,478,253 (GRCm39) probably null Het
Aco1 A G 4: 40,180,263 (GRCm39) D388G probably benign Het
Adgrl1 T G 8: 84,662,187 (GRCm39) L1016R probably damaging Het
Agmo C T 12: 37,292,051 (GRCm39) P4L possibly damaging Het
Agrn A T 4: 156,253,514 (GRCm39) H1792Q probably benign Het
Arhgef40 C T 14: 52,229,254 (GRCm39) L615F unknown Het
Atp6v1b1 A T 6: 83,729,452 (GRCm39) M121L possibly damaging Het
Cd38 C A 5: 44,058,790 (GRCm39) L135M probably damaging Het
Cep152 A T 2: 125,432,033 (GRCm39) N622K possibly damaging Het
Cfhr1 A C 1: 139,484,165 (GRCm39) V117G probably damaging Het
Dnajb1 T A 8: 84,336,834 (GRCm39) D201E probably benign Het
Dpysl2 T C 14: 67,100,092 (GRCm39) N48S probably benign Het
Dsc2 A G 18: 20,179,342 (GRCm39) I242T possibly damaging Het
Eif1ad10 A C 12: 88,216,588 (GRCm39) Y95D probably damaging Het
Eif1ad3 G A 12: 87,843,742 (GRCm39) V130M unknown Het
Fam193a C A 5: 34,568,161 (GRCm39) D153E probably benign Het
Flnc G T 6: 29,440,897 (GRCm39) D332Y probably damaging Het
Fstl5 A G 3: 76,615,275 (GRCm39) I779V probably benign Het
Gm29394 T C 15: 57,912,172 (GRCm39) I11V unknown Het
Gm36864 ATCAGAAGTTTC ATC 7: 43,886,361 (GRCm39) probably benign Het
Gnpnat1 G A 14: 45,622,110 (GRCm39) P28S probably damaging Het
Grk5 T C 19: 61,069,383 (GRCm39) probably null Het
Gys2 A T 6: 142,376,059 (GRCm39) F534L probably damaging Het
Igdcc4 G A 9: 65,027,540 (GRCm39) V201I probably benign Het
Khdc4 T A 3: 88,604,043 (GRCm39) S287T probably benign Het
Kif12 G C 4: 63,086,226 (GRCm39) P374A probably benign Het
Krt16 A T 11: 100,137,592 (GRCm39) I371N probably damaging Het
Lrfn2 G A 17: 49,376,972 (GRCm39) V18I possibly damaging Het
Masp2 G A 4: 148,687,189 (GRCm39) E24K probably benign Het
Mdga2 T C 12: 66,517,724 (GRCm39) N37D possibly damaging Het
Med12l T A 3: 59,155,332 (GRCm39) F1171I probably damaging Het
Med22 A T 2: 26,800,376 (GRCm39) Y18N probably damaging Het
Mfsd4b1 T C 10: 39,879,411 (GRCm39) N162S probably benign Het
Micu2 A T 14: 58,169,710 (GRCm39) N213K probably benign Het
Mpc1 C T 17: 8,515,740 (GRCm39) T86I probably damaging Het
Mto1 G T 9: 78,356,820 (GRCm39) V112L possibly damaging Het
Napepld C T 5: 21,888,171 (GRCm39) V93I probably benign Het
Nkx2-2 A T 2: 147,026,189 (GRCm39) M183K probably damaging Het
Nlrp10 A G 7: 108,524,281 (GRCm39) S400P probably damaging Het
Nynrin T C 14: 56,108,886 (GRCm39) L1331P probably damaging Het
Ofcc1 T A 13: 40,333,915 (GRCm39) D392V probably damaging Het
Or10q12 A G 19: 13,745,874 (GRCm39) H56R probably benign Het
Or11a4 T C 17: 37,536,163 (GRCm39) V49A probably benign Het
Or2ag16 A T 7: 106,351,845 (GRCm39) M250K probably damaging Het
Or6c38 T A 10: 128,929,385 (GRCm39) I153F probably benign Het
Pde8b T G 13: 95,244,205 (GRCm39) D78A probably damaging Het
Pgls T A 8: 72,047,847 (GRCm39) probably null Het
Pik3c2a A G 7: 116,016,693 (GRCm39) S355P probably benign Het
Pole G A 5: 110,454,695 (GRCm39) R976Q probably damaging Het
Ppip5k2 A G 1: 97,668,896 (GRCm39) L511S probably damaging Het
Prcp A T 7: 92,577,900 (GRCm39) N390Y probably benign Het
Rpgrip1 T A 14: 52,383,337 (GRCm39) N752K probably benign Het
Rsl1d1 A G 16: 11,021,098 (GRCm39) S8P probably benign Het
S100a1 C A 3: 90,419,392 (GRCm39) A18S probably benign Het
Slc25a13 A G 6: 6,152,461 (GRCm39) F92S probably damaging Het
Slc35f3 T C 8: 127,121,219 (GRCm39) I360T probably damaging Het
Slc35f6 T C 5: 30,814,159 (GRCm39) Y202H possibly damaging Het
Sox6 A T 7: 115,400,839 (GRCm39) M1K probably null Het
Stx8 G A 11: 67,860,611 (GRCm39) D11N probably damaging Het
Vmn2r130 A G 17: 23,282,788 (GRCm39) N156S probably benign Het
Vmn2r52 T C 7: 9,892,895 (GRCm39) Y748C probably damaging Het
Vmn2r78 T A 7: 86,569,378 (GRCm39) Y90* probably null Het
Zc3h4 A G 7: 16,156,392 (GRCm39) S303G unknown Het
Other mutations in Patl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Patl2 APN 2 121,954,291 (GRCm39) missense probably benign 0.19
IGL01780:Patl2 APN 2 121,952,327 (GRCm39) missense probably damaging 1.00
IGL02604:Patl2 APN 2 121,955,814 (GRCm39) missense possibly damaging 0.80
IGL02713:Patl2 APN 2 121,956,328 (GRCm39) missense probably benign 0.01
IGL02990:Patl2 APN 2 121,954,978 (GRCm39) critical splice acceptor site probably null
FR4304:Patl2 UTSW 2 121,956,616 (GRCm39) small insertion probably benign
FR4548:Patl2 UTSW 2 121,956,616 (GRCm39) small insertion probably benign
FR4737:Patl2 UTSW 2 121,956,626 (GRCm39) small insertion probably benign
FR4737:Patl2 UTSW 2 121,956,625 (GRCm39) nonsense probably null
FR4737:Patl2 UTSW 2 121,956,617 (GRCm39) small insertion probably benign
FR4976:Patl2 UTSW 2 121,956,625 (GRCm39) small insertion probably benign
FR4976:Patl2 UTSW 2 121,956,622 (GRCm39) small insertion probably benign
FR4976:Patl2 UTSW 2 121,956,620 (GRCm39) small insertion probably benign
FR4976:Patl2 UTSW 2 121,956,626 (GRCm39) small insertion probably benign
R0001:Patl2 UTSW 2 121,956,191 (GRCm39) splice site probably benign
R0002:Patl2 UTSW 2 121,956,191 (GRCm39) splice site probably benign
R0540:Patl2 UTSW 2 121,957,150 (GRCm39) missense probably benign
R0570:Patl2 UTSW 2 121,955,789 (GRCm39) missense probably damaging 0.99
R0607:Patl2 UTSW 2 121,957,150 (GRCm39) missense probably benign
R1463:Patl2 UTSW 2 121,954,216 (GRCm39) missense probably benign 0.38
R2992:Patl2 UTSW 2 121,956,235 (GRCm39) missense probably damaging 0.97
R4329:Patl2 UTSW 2 121,958,018 (GRCm39) missense probably benign 0.01
R4583:Patl2 UTSW 2 121,957,226 (GRCm39) missense probably benign 0.00
R4737:Patl2 UTSW 2 121,955,787 (GRCm39) missense probably damaging 1.00
R4965:Patl2 UTSW 2 121,959,329 (GRCm39) nonsense probably null
R5091:Patl2 UTSW 2 121,954,283 (GRCm39) missense probably benign 0.01
R5256:Patl2 UTSW 2 121,959,368 (GRCm39) missense probably damaging 1.00
R5450:Patl2 UTSW 2 121,955,762 (GRCm39) missense probably benign 0.00
R5990:Patl2 UTSW 2 121,954,965 (GRCm39) missense probably damaging 1.00
R6028:Patl2 UTSW 2 121,956,618 (GRCm39) missense possibly damaging 0.76
R6107:Patl2 UTSW 2 121,957,967 (GRCm39) missense probably damaging 0.98
R6597:Patl2 UTSW 2 122,016,645 (GRCm39) start gained probably benign
R6969:Patl2 UTSW 2 121,959,410 (GRCm39) missense possibly damaging 0.52
R7131:Patl2 UTSW 2 121,952,263 (GRCm39) critical splice donor site probably null
R7436:Patl2 UTSW 2 121,958,006 (GRCm39) missense probably benign 0.00
R7718:Patl2 UTSW 2 121,957,255 (GRCm39) splice site probably null
R8397:Patl2 UTSW 2 121,955,754 (GRCm39) missense probably damaging 1.00
R9515:Patl2 UTSW 2 121,955,374 (GRCm39) missense probably benign 0.09
R9699:Patl2 UTSW 2 121,955,591 (GRCm39) missense probably damaging 1.00
R9766:Patl2 UTSW 2 121,954,212 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGCCCCTGCCTTAATGAC -3'
(R):5'- CTCTTAAAATCATGCTGGCAGC -3'

Sequencing Primer
(F):5'- CCTGCCTTAATGACGGTGG -3'
(R):5'- GCTGGCAGCAGTAATAATATCTTTC -3'
Posted On 2019-12-20