Incidental Mutation 'R2017:Palld'
ID 223207
Institutional Source Beutler Lab
Gene Symbol Palld
Ensembl Gene ENSMUSG00000058056
Gene Name palladin, cytoskeletal associated protein
Synonyms 2410003B16Rik
MMRRC Submission 040026-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2017 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 61964467-62355724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62137799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 652 (E652G)
Ref Sequence ENSEMBL: ENSMUSP00000112442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034057] [ENSMUST00000121493] [ENSMUST00000121785]
AlphaFold Q9ET54
Predicted Effect probably damaging
Transcript: ENSMUST00000034057
AA Change: E652G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034057
Gene: ENSMUSG00000058056
AA Change: E652G

DomainStartEndE-ValueType
IGc2 290 358 1.45e-9 SMART
low complexity region 372 385 N/A INTRINSIC
IGc2 460 535 1.6e-11 SMART
low complexity region 639 667 N/A INTRINSIC
IGc2 796 865 3.1e-9 SMART
low complexity region 881 906 N/A INTRINSIC
IGc2 930 998 4.92e-12 SMART
IGc2 1029 1098 1.61e-7 SMART
Predicted Effect unknown
Transcript: ENSMUST00000121493
AA Change: E263G
SMART Domains Protein: ENSMUSP00000113874
Gene: ENSMUSG00000058056
AA Change: E263G

DomainStartEndE-ValueType
IGc2 71 146 1.6e-11 SMART
low complexity region 250 284 N/A INTRINSIC
low complexity region 298 326 N/A INTRINSIC
low complexity region 376 407 N/A INTRINSIC
low complexity region 416 451 N/A INTRINSIC
IGc2 632 701 3.1e-9 SMART
low complexity region 717 742 N/A INTRINSIC
IGc2 766 834 4.92e-12 SMART
IGc2 865 934 1.61e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121785
AA Change: E652G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112442
Gene: ENSMUSG00000058056
AA Change: E652G

DomainStartEndE-ValueType
IGc2 290 358 1.45e-9 SMART
low complexity region 372 385 N/A INTRINSIC
IGc2 460 535 1.6e-11 SMART
low complexity region 639 673 N/A INTRINSIC
low complexity region 687 715 N/A INTRINSIC
low complexity region 765 796 N/A INTRINSIC
low complexity region 805 840 N/A INTRINSIC
IGc2 1038 1107 3.1e-9 SMART
low complexity region 1123 1148 N/A INTRINSIC
IGc2 1172 1240 4.92e-12 SMART
IGc2 1271 1340 1.61e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149042
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in this gene are associated with a susceptibility to pancreatic cancer type 1, and also with a risk for myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: All homozygous null embryos die around E15.5 displaying exencephaly derived from neural tube closure defects, and herniation of the intestine and liver due to ventral closure defects. Mutant MEFs show impaired formation of actin stress fibers, reduced migration and decreased adhesion to fibronectin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025C18Rik T C 2: 164,920,946 (GRCm39) D29G unknown Het
Abca13 A T 11: 9,240,619 (GRCm39) L827F probably damaging Het
Abcc1 T A 16: 14,279,068 (GRCm39) V1126E probably damaging Het
Abcc12 A G 8: 87,290,617 (GRCm39) L41S probably damaging Het
Adgrg7 T C 16: 56,553,169 (GRCm39) T643A probably benign Het
Angpt2 T C 8: 18,755,747 (GRCm39) N240S probably damaging Het
Apc A G 18: 34,446,655 (GRCm39) T1150A probably benign Het
Apob G A 12: 8,057,751 (GRCm39) D2078N possibly damaging Het
Apool T A X: 111,274,258 (GRCm39) S234T probably benign Het
Ascc3 C T 10: 50,566,307 (GRCm39) P751S probably benign Het
Astn2 G A 4: 65,459,178 (GRCm39) T1079I probably damaging Het
Atp8b1 T C 18: 64,673,405 (GRCm39) N989S probably damaging Het
B3gnt2 T C 11: 22,786,621 (GRCm39) D189G probably damaging Het
Bcas1 A C 2: 170,190,081 (GRCm39) probably null Het
Btk T C X: 133,448,350 (GRCm39) D355G probably benign Het
C2cd4c A G 10: 79,448,823 (GRCm39) V108A possibly damaging Het
Cbfa2t2 T C 2: 154,359,727 (GRCm39) L264P probably damaging Het
Cd22 A T 7: 30,572,205 (GRCm39) L423Q probably damaging Het
Cep128 T C 12: 91,333,238 (GRCm39) D9G probably damaging Het
Cer1 A T 4: 82,801,120 (GRCm39) V181D probably damaging Het
Ciita T C 16: 10,329,540 (GRCm39) L584P probably damaging Het
Cmss1 T C 16: 57,136,641 (GRCm39) D77G probably damaging Het
Col4a2 T C 8: 11,495,086 (GRCm39) F1515L probably benign Het
Cyria T A 12: 12,412,362 (GRCm39) V208D probably damaging Het
Dcaf1 A G 9: 106,725,122 (GRCm39) E536G probably damaging Het
Dcaf1 T A 9: 106,716,287 (GRCm39) D360E probably benign Het
Dnah2 T A 11: 69,327,896 (GRCm39) I3370F probably damaging Het
Dsg1c T C 18: 20,399,253 (GRCm39) V119A possibly damaging Het
Edn3 A G 2: 174,620,455 (GRCm39) E103G probably benign Het
Efemp1 G T 11: 28,871,613 (GRCm39) R376L probably damaging Het
Eid1 A G 2: 125,515,121 (GRCm39) M4V probably benign Het
Emilin3 G A 2: 160,751,530 (GRCm39) R170C possibly damaging Het
Epx T C 11: 87,765,163 (GRCm39) D178G probably damaging Het
Fkbp10 G A 11: 100,312,499 (GRCm39) V252I possibly damaging Het
Flnc G A 6: 29,443,796 (GRCm39) probably null Het
Fsip2 A G 2: 82,813,076 (GRCm39) K3132E possibly damaging Het
Gla C T X: 133,497,071 (GRCm39) A39T probably damaging Het
Hivep2 C T 10: 14,006,501 (GRCm39) T1033M probably damaging Het
Hsd17b8 A T 17: 34,245,187 (GRCm39) M259K probably damaging Het
Ift70a1 A G 2: 75,811,801 (GRCm39) L94P probably benign Het
Ikzf4 C T 10: 128,470,026 (GRCm39) G498D probably damaging Het
Impg1 T C 9: 80,322,720 (GRCm39) Y95C probably damaging Het
Ino80c T A 18: 24,244,810 (GRCm39) K136* probably null Het
Iqsec1 A C 6: 90,666,912 (GRCm39) H508Q probably benign Het
Itgb3 A G 11: 104,528,788 (GRCm39) H305R possibly damaging Het
Jup T A 11: 100,277,167 (GRCm39) T14S probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klf12 T C 14: 100,260,073 (GRCm39) R219G possibly damaging Het
Klhl42 G T 6: 147,009,291 (GRCm39) V377L probably benign Het
Large1 A G 8: 73,578,825 (GRCm39) F460S probably damaging Het
Loxl3 A T 6: 83,025,958 (GRCm39) D402V probably damaging Het
Lrrc37a T A 11: 103,391,951 (GRCm39) Y1158F probably benign Het
Map2 T A 1: 66,451,958 (GRCm39) S365T probably damaging Het
Mapk8ip1 A G 2: 92,221,379 (GRCm39) probably null Het
Med26 A G 8: 73,250,791 (GRCm39) S103P probably damaging Het
Muc4 T C 16: 32,570,121 (GRCm39) S394P possibly damaging Het
Nle1 G T 11: 82,796,373 (GRCm39) P166Q probably damaging Het
Obox5 T C 7: 15,492,807 (GRCm39) I254T probably benign Het
Or1p1c T A 11: 74,161,159 (GRCm39) W315R probably benign Het
Or4g7 G T 2: 111,309,532 (GRCm39) M134I probably benign Het
Or52j3 T C 7: 102,836,137 (GRCm39) F110L probably benign Het
Or7c19 T C 8: 85,957,373 (GRCm39) L83P possibly damaging Het
Pacs2 A T 12: 113,026,077 (GRCm39) N545Y probably damaging Het
Pgm5 T C 19: 24,801,676 (GRCm39) N184S probably benign Het
Pitpnm1 T C 19: 4,161,873 (GRCm39) V955A probably benign Het
Plcb1 T A 2: 135,204,340 (GRCm39) I898N possibly damaging Het
Pramel13 A G 4: 144,121,244 (GRCm39) V260A possibly damaging Het
Prr36 T A 8: 4,265,205 (GRCm39) T182S probably benign Het
Prss35 A G 9: 86,637,565 (GRCm39) S112G probably benign Het
Ptprj C T 2: 90,294,958 (GRCm39) V417M probably damaging Het
Ptprm G T 17: 67,264,148 (GRCm39) probably null Het
Rasgrp2 T C 19: 6,463,195 (GRCm39) V498A probably benign Het
Rfx6 A G 10: 51,597,700 (GRCm39) N513S possibly damaging Het
Rhbdf1 A G 11: 32,160,471 (GRCm39) I693T probably damaging Het
Scn9a T C 2: 66,345,665 (GRCm39) T1143A probably damaging Het
Spata17 A G 1: 186,780,650 (GRCm39) S366P possibly damaging Het
Svep1 A G 4: 58,070,568 (GRCm39) L2406P probably benign Het
Tasor2 A T 13: 3,626,770 (GRCm39) I1060K probably benign Het
Tgfb2 A T 1: 186,362,962 (GRCm39) Y287* probably null Het
Trip11 A T 12: 101,851,619 (GRCm39) V815E probably benign Het
Trp53bp2 G T 1: 182,276,580 (GRCm39) V854L probably benign Het
Vmn1r78 T C 7: 11,887,270 (GRCm39) S294P possibly damaging Het
Vmn2r86 T C 10: 130,282,582 (GRCm39) K678R probably benign Het
Yeats2 T A 16: 19,977,931 (GRCm39) N138K probably benign Het
Zup1 A T 10: 33,803,460 (GRCm39) N541K possibly damaging Het
Other mutations in Palld
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00917:Palld APN 8 61,968,969 (GRCm39) missense possibly damaging 0.77
IGL01083:Palld APN 8 61,991,841 (GRCm39) missense probably benign 0.44
IGL01644:Palld APN 8 62,330,512 (GRCm39) missense probably benign 0.28
IGL01672:Palld APN 8 62,330,536 (GRCm39) missense probably benign 0.22
IGL01941:Palld APN 8 61,988,734 (GRCm39) missense probably benign 0.44
IGL02037:Palld APN 8 61,978,148 (GRCm39) missense probably damaging 1.00
IGL02126:Palld APN 8 62,330,476 (GRCm39) missense possibly damaging 0.82
IGL02537:Palld APN 8 62,137,968 (GRCm39) missense probably benign 0.05
IGL02632:Palld APN 8 61,968,279 (GRCm39) missense probably damaging 1.00
IGL02809:Palld APN 8 61,968,281 (GRCm39) missense probably damaging 1.00
IGL02901:Palld APN 8 62,330,029 (GRCm39) nonsense probably null
IGL03400:Palld APN 8 61,966,489 (GRCm39) missense probably damaging 1.00
R0098:Palld UTSW 8 61,978,120 (GRCm39) missense probably damaging 1.00
R0098:Palld UTSW 8 61,978,120 (GRCm39) missense probably damaging 1.00
R0745:Palld UTSW 8 62,330,737 (GRCm39) missense probably damaging 1.00
R1263:Palld UTSW 8 61,966,491 (GRCm39) frame shift probably null
R1342:Palld UTSW 8 61,975,916 (GRCm39) critical splice donor site probably null
R1893:Palld UTSW 8 61,969,655 (GRCm39) missense probably damaging 1.00
R2102:Palld UTSW 8 61,986,467 (GRCm39) missense possibly damaging 0.82
R2129:Palld UTSW 8 62,330,395 (GRCm39) missense probably benign 0.00
R2246:Palld UTSW 8 62,330,169 (GRCm39) missense probably benign 0.01
R3545:Palld UTSW 8 62,003,112 (GRCm39) missense possibly damaging 0.95
R3815:Palld UTSW 8 62,002,871 (GRCm39) intron probably benign
R3824:Palld UTSW 8 62,162,067 (GRCm39) missense probably damaging 1.00
R4412:Palld UTSW 8 62,140,406 (GRCm39) missense probably damaging 0.98
R4781:Palld UTSW 8 62,330,062 (GRCm39) missense probably benign 0.01
R4836:Palld UTSW 8 62,140,415 (GRCm39) missense probably benign 0.11
R4871:Palld UTSW 8 62,002,815 (GRCm39) intron probably benign
R4963:Palld UTSW 8 62,156,244 (GRCm39) missense probably damaging 1.00
R5036:Palld UTSW 8 62,003,196 (GRCm39) missense probably damaging 1.00
R5128:Palld UTSW 8 62,173,622 (GRCm39) missense probably damaging 1.00
R5343:Palld UTSW 8 62,002,849 (GRCm39) intron probably benign
R5421:Palld UTSW 8 61,969,584 (GRCm39) missense probably damaging 1.00
R5427:Palld UTSW 8 62,003,106 (GRCm39) missense probably benign 0.01
R5561:Palld UTSW 8 61,969,619 (GRCm39) missense probably damaging 1.00
R5651:Palld UTSW 8 61,991,822 (GRCm39) missense probably damaging 1.00
R5679:Palld UTSW 8 62,137,979 (GRCm39) missense possibly damaging 0.95
R5915:Palld UTSW 8 61,986,386 (GRCm39) critical splice donor site probably null
R6153:Palld UTSW 8 62,003,186 (GRCm39) missense probably damaging 1.00
R6276:Palld UTSW 8 61,966,457 (GRCm39) missense probably damaging 1.00
R6323:Palld UTSW 8 62,173,727 (GRCm39) missense probably damaging 1.00
R6659:Palld UTSW 8 61,986,477 (GRCm39) missense probably benign 0.28
R7016:Palld UTSW 8 61,969,032 (GRCm39) missense probably damaging 1.00
R7124:Palld UTSW 8 61,969,679 (GRCm39) missense unknown
R7145:Palld UTSW 8 61,985,051 (GRCm39) missense unknown
R7386:Palld UTSW 8 61,985,086 (GRCm39) missense unknown
R7407:Palld UTSW 8 61,968,975 (GRCm39) nonsense probably null
R7723:Palld UTSW 8 62,164,492 (GRCm39) missense probably damaging 1.00
R8029:Palld UTSW 8 62,330,346 (GRCm39) missense probably damaging 1.00
R8402:Palld UTSW 8 62,164,440 (GRCm39) missense probably damaging 1.00
R8775:Palld UTSW 8 62,138,006 (GRCm39) missense possibly damaging 0.73
R8775-TAIL:Palld UTSW 8 62,138,006 (GRCm39) missense possibly damaging 0.73
R8887:Palld UTSW 8 61,986,512 (GRCm39) missense unknown
R8906:Palld UTSW 8 62,003,198 (GRCm39) critical splice donor site probably null
R8969:Palld UTSW 8 62,137,883 (GRCm39) missense probably damaging 1.00
R8971:Palld UTSW 8 61,969,735 (GRCm39) missense unknown
R8990:Palld UTSW 8 61,968,279 (GRCm39) missense probably damaging 1.00
R9012:Palld UTSW 8 62,173,697 (GRCm39) missense possibly damaging 0.85
R9145:Palld UTSW 8 62,330,107 (GRCm39) missense probably benign 0.01
R9221:Palld UTSW 8 61,969,591 (GRCm39) missense unknown
R9228:Palld UTSW 8 62,173,571 (GRCm39) missense probably damaging 1.00
R9311:Palld UTSW 8 61,978,189 (GRCm39) missense unknown
R9355:Palld UTSW 8 61,969,691 (GRCm39) missense unknown
R9376:Palld UTSW 8 61,969,691 (GRCm39) missense unknown
R9377:Palld UTSW 8 61,969,691 (GRCm39) missense unknown
R9378:Palld UTSW 8 61,969,691 (GRCm39) missense unknown
R9467:Palld UTSW 8 61,968,264 (GRCm39) missense unknown
R9638:Palld UTSW 8 62,002,788 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TTCCAGCAGAGGACTCTTTACC -3'
(R):5'- AACAGCCCCAATTTAGGATTTAGC -3'

Sequencing Primer
(F):5'- TTTTGAAGGACCAAACTCAGCAG -3'
(R):5'- GCATGGCAGCTCTTCAAATG -3'
Posted On 2014-08-25