Incidental Mutation 'R7188:Pald1'
ID 559432
Institutional Source Beutler Lab
Gene Symbol Pald1
Ensembl Gene ENSMUSG00000020092
Gene Name phosphatase domain containing, paladin 1
Synonyms paladin, X99384
MMRRC Submission 045272-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R7188 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 61155435-61219309 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61182845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 368 (V368E)
Ref Sequence ENSEMBL: ENSMUSP00000020289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020289]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000020289
AA Change: V368E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020289
Gene: ENSMUSG00000020092
AA Change: V368E

DomainStartEndE-ValueType
low complexity region 2 37 N/A INTRINSIC
PTPlike_phytase 164 333 4.33e-53 SMART
low complexity region 428 441 N/A INTRINSIC
PTPlike_phytase 548 682 5.37e-49 SMART
low complexity region 757 768 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,554,600 (GRCm39) Y118C possibly damaging Het
Abcb6 A G 1: 75,150,781 (GRCm39) probably null Het
Acox2 T A 14: 8,252,996 (GRCm38) I236L possibly damaging Het
Adamts12 A T 15: 11,336,411 (GRCm39) K1499* probably null Het
Ankrd24 G T 10: 81,472,224 (GRCm39) E20* probably null Het
Arsa A T 15: 89,359,830 (GRCm39) Y32* probably null Het
Atp9b A G 18: 80,961,041 (GRCm39) S57P Het
Atr G T 9: 95,744,844 (GRCm39) E54* probably null Het
Bace1 A G 9: 45,767,393 (GRCm39) D192G probably benign Het
Bltp1 A T 3: 37,004,162 (GRCm39) T1624S probably benign Het
Bltp3b T C 10: 89,615,744 (GRCm39) V129A probably damaging Het
Cacna1d T C 14: 29,811,790 (GRCm39) S1309G probably benign Het
Cd177 G T 7: 24,456,072 (GRCm39) T232K probably damaging Het
Chil4 T A 3: 106,111,475 (GRCm39) D213V probably damaging Het
Cmya5 A T 13: 93,182,546 (GRCm39) I3538N probably damaging Het
Cyp26a1 T A 19: 37,687,753 (GRCm39) M287K possibly damaging Het
Dcaf5 T C 12: 80,446,732 (GRCm39) D129G probably damaging Het
Dnah12 A C 14: 26,536,370 (GRCm39) K2095N probably benign Het
Dnpep G A 1: 75,292,701 (GRCm39) S106L probably damaging Het
Dock2 C T 11: 34,189,675 (GRCm39) E1499K possibly damaging Het
Dus4l A G 12: 31,696,714 (GRCm39) F88L probably damaging Het
Fcrl2 A C 3: 87,166,830 (GRCm39) D54E probably benign Het
Fign T A 2: 63,809,950 (GRCm39) H440L possibly damaging Het
Gabpa A G 16: 84,643,174 (GRCm39) D157G probably damaging Het
Gapdh T A 6: 125,142,403 (GRCm39) probably benign Het
Gbp8 G T 5: 105,164,081 (GRCm39) R406S probably benign Het
Gm21775 A G Y: 10,553,894 (GRCm39) R148G possibly damaging Het
Gm28363 G A 1: 117,626,579 (GRCm39) V6I unknown Het
Gmps A G 3: 63,918,982 (GRCm39) D522G probably damaging Het
Gpr75 T C 11: 30,842,687 (GRCm39) S531P probably damaging Het
Hars2 G T 18: 36,923,614 (GRCm39) E468D probably benign Het
Jph4 C A 14: 55,352,664 (GRCm39) R23L probably damaging Het
Kctd12 T A 14: 103,219,230 (GRCm39) Y216F probably benign Het
L3mbtl1 G A 2: 162,791,460 (GRCm39) probably null Het
Lama4 G A 10: 38,841,729 (GRCm39) probably benign Het
Lyst T A 13: 13,926,675 (GRCm39) S3494T possibly damaging Het
Mybpc2 A G 7: 44,155,617 (GRCm39) S879P probably benign Het
Ncaph C T 2: 126,964,034 (GRCm39) V304M probably benign Het
Noto A T 6: 85,405,047 (GRCm39) I229F possibly damaging Het
Or10n7-ps1 T C 9: 39,597,731 (GRCm39) M170V unknown Het
Or4c29 T C 2: 88,740,203 (GRCm39) D178G probably damaging Het
Or8k25 T A 2: 86,243,695 (GRCm39) K234* probably null Het
Pde9a T A 17: 31,678,071 (GRCm39) M217K probably damaging Het
Pira1 A T 7: 3,741,828 (GRCm39) V184E probably damaging Het
Pitpnm2 G T 5: 124,259,366 (GRCm39) A1323E probably benign Het
Ppp1r3a T C 6: 14,719,190 (GRCm39) S575G probably benign Het
Prok1 T C 3: 107,146,941 (GRCm39) I9V probably benign Het
Ptprc A T 1: 137,998,918 (GRCm39) V905D probably damaging Het
Rbm25 G T 12: 83,710,772 (GRCm39) G295V unknown Het
Rreb1 T C 13: 38,100,544 (GRCm39) M225T possibly damaging Het
Ryr3 T C 2: 112,858,989 (GRCm39) K55E probably damaging Het
Saxo4 T A 19: 10,459,702 (GRCm39) M2L probably benign Het
Scgb2b26 G T 7: 33,644,379 (GRCm39) T4K probably damaging Het
Setx C A 2: 29,038,184 (GRCm39) D1556E probably benign Het
Sft2d1 C T 17: 8,542,164 (GRCm39) T136I possibly damaging Het
Sirt5 C T 13: 43,525,380 (GRCm39) A63V possibly damaging Het
Skor2 A G 18: 76,947,504 (GRCm39) T409A possibly damaging Het
Slc12a6 T C 2: 112,164,760 (GRCm39) M153T probably benign Het
Slc34a1 A G 13: 24,006,348 (GRCm39) Y458C probably damaging Het
Slc36a2 A G 11: 55,053,483 (GRCm39) V385A possibly damaging Het
St6galnac5 A T 3: 152,552,131 (GRCm39) H145Q probably damaging Het
Tal1 T A 4: 114,925,610 (GRCm39) N226K probably damaging Het
Tgtp2 G C 11: 48,950,135 (GRCm39) R146G probably damaging Het
Usp6nl T C 2: 6,445,330 (GRCm39) S436P probably benign Het
Utp3 A G 5: 88,702,621 (GRCm39) E50G probably benign Het
Zfp12 A T 5: 143,225,749 (GRCm39) Q19L probably damaging Het
Other mutations in Pald1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02183:Pald1 APN 10 61,182,920 (GRCm39) splice site probably benign
IGL03068:Pald1 APN 10 61,156,963 (GRCm39) missense possibly damaging 0.94
IGL03106:Pald1 APN 10 61,182,884 (GRCm39) missense probably benign 0.41
R0331:Pald1 UTSW 10 61,176,708 (GRCm39) critical splice donor site probably null
R0497:Pald1 UTSW 10 61,177,094 (GRCm39) missense probably damaging 0.99
R1181:Pald1 UTSW 10 61,183,366 (GRCm39) splice site probably benign
R1437:Pald1 UTSW 10 61,177,064 (GRCm39) missense possibly damaging 0.63
R1466:Pald1 UTSW 10 61,184,304 (GRCm39) splice site probably benign
R1827:Pald1 UTSW 10 61,191,701 (GRCm39) small deletion probably benign
R2129:Pald1 UTSW 10 61,184,085 (GRCm39) critical splice donor site probably null
R2184:Pald1 UTSW 10 61,182,915 (GRCm39) missense possibly damaging 0.46
R2260:Pald1 UTSW 10 61,188,750 (GRCm39) missense probably damaging 1.00
R3051:Pald1 UTSW 10 61,182,542 (GRCm39) nonsense probably null
R3690:Pald1 UTSW 10 61,191,587 (GRCm39) splice site probably null
R3713:Pald1 UTSW 10 61,178,144 (GRCm39) missense possibly damaging 0.67
R3876:Pald1 UTSW 10 61,183,266 (GRCm39) missense probably damaging 0.97
R4261:Pald1 UTSW 10 61,179,471 (GRCm39) missense probably damaging 1.00
R4600:Pald1 UTSW 10 61,184,395 (GRCm39) missense probably benign 0.00
R4603:Pald1 UTSW 10 61,184,395 (GRCm39) missense probably benign 0.00
R5069:Pald1 UTSW 10 61,177,025 (GRCm39) missense possibly damaging 0.50
R5354:Pald1 UTSW 10 61,184,440 (GRCm39) missense probably damaging 1.00
R5590:Pald1 UTSW 10 61,179,489 (GRCm39) missense probably damaging 1.00
R5705:Pald1 UTSW 10 61,159,076 (GRCm39) missense possibly damaging 0.90
R5780:Pald1 UTSW 10 61,174,997 (GRCm39) missense probably damaging 1.00
R6239:Pald1 UTSW 10 61,156,910 (GRCm39) missense possibly damaging 0.59
R6380:Pald1 UTSW 10 61,186,714 (GRCm39) missense possibly damaging 0.86
R6812:Pald1 UTSW 10 61,178,701 (GRCm39) missense possibly damaging 0.53
R6891:Pald1 UTSW 10 61,184,311 (GRCm39) critical splice donor site probably null
R6949:Pald1 UTSW 10 61,156,996 (GRCm39) missense probably benign 0.23
R7038:Pald1 UTSW 10 61,175,078 (GRCm39) missense probably benign
R7051:Pald1 UTSW 10 61,159,125 (GRCm39) missense probably benign 0.26
R7339:Pald1 UTSW 10 61,159,110 (GRCm39) missense possibly damaging 0.60
R7831:Pald1 UTSW 10 61,191,593 (GRCm39) missense probably damaging 1.00
R8000:Pald1 UTSW 10 61,183,218 (GRCm39) missense probably benign 0.00
R8710:Pald1 UTSW 10 61,183,232 (GRCm39) missense probably benign 0.03
R8903:Pald1 UTSW 10 61,182,815 (GRCm39) critical splice donor site probably null
R9255:Pald1 UTSW 10 61,176,989 (GRCm39) critical splice donor site probably null
R9414:Pald1 UTSW 10 61,178,932 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CCTTCAGGTCATGCAACTCTG -3'
(R):5'- TCCCCAGTAGAATTCAGAAGTG -3'

Sequencing Primer
(F):5'- ATCGCTCGATCCACCTAGG -3'
(R):5'- CAGAAGTGATTTGATGCCTCCCAG -3'
Posted On 2019-06-26