Incidental Mutation 'R2992:Patl2'
ID 257932
Institutional Source Beutler Lab
Gene Symbol Patl2
Ensembl Gene ENSMUSG00000027233
Gene Name protein associated with topoisomerase II homolog 2 (yeast)
Synonyms Pat1a, 4930424G05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R2992 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 121950589-122016670 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121956235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 210 (S210G)
Ref Sequence ENSEMBL: ENSMUSP00000028665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028665]
AlphaFold A2ARM1
Predicted Effect probably damaging
Transcript: ENSMUST00000028665
AA Change: S210G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028665
Gene: ENSMUSG00000027233
AA Change: S210G

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Baat A T 4: 49,499,675 (GRCm39) Y210* probably null Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cep295 T A 9: 15,244,043 (GRCm39) K1471I probably damaging Het
Cpne4 A T 9: 104,899,564 (GRCm39) I416F probably damaging Het
Cul7 C G 17: 46,962,526 (GRCm39) D52E probably benign Het
Isg20 C T 7: 78,569,632 (GRCm39) A201V probably benign Het
Kdm6b ACTGCTGCTGCTGCTGCTGCTGCTG ACTGCTGCTGCTGCTGCTGCTG 11: 69,297,133 (GRCm39) probably benign Het
Mmp16 G T 4: 18,011,657 (GRCm39) G191C probably damaging Het
Or51aa5 C T 7: 103,166,977 (GRCm39) V205M probably damaging Het
Or6c2b C A 10: 128,947,404 (GRCm39) E297* probably null Het
Or9m2 T C 2: 87,821,121 (GRCm39) V222A probably benign Het
Plekha6 T C 1: 133,222,396 (GRCm39) I994T probably damaging Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Rhobtb2 A G 14: 70,035,772 (GRCm39) S100P probably damaging Het
Snx13 T C 12: 35,155,190 (GRCm39) L418P probably damaging Het
Spink5 A C 18: 44,129,696 (GRCm39) E429A probably damaging 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
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
R7852:Patl2 UTSW 2 122,009,590 (GRCm39) unclassified probably benign
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'- CTACAAGGGAAGGATCTTGGGATAC -3'
(R):5'- CAACACTGCACCTGTTCCAG -3'

Sequencing Primer
(F):5'- CTAAACAGATGTGGCCTC -3'
(R):5'- AGTCCTTTCAAGAGCACTCCACTG -3'
Posted On 2015-01-11