Incidental Mutation 'R6659:Palld'
ID 526770
Institutional Source Beutler Lab
Gene Symbol Palld
Ensembl Gene ENSMUSG00000058056
Gene Name palladin, cytoskeletal associated protein
Synonyms 2410003B16Rik
MMRRC Submission 044779-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6659 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 61964467-62355724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61986477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 621 (F621L)
Ref Sequence ENSEMBL: ENSMUSP00000113874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034057] [ENSMUST00000121200] [ENSMUST00000121493] [ENSMUST00000121785] [ENSMUST00000135439]
AlphaFold Q9ET54
Predicted Effect probably benign
Transcript: ENSMUST00000034057
AA Change: F785L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000034057
Gene: ENSMUSG00000058056
AA Change: F785L

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 probably benign
Transcript: ENSMUST00000121200
AA Change: F282L

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000112374
Gene: ENSMUSG00000058056
AA Change: F282L

DomainStartEndE-ValueType
low complexity region 37 68 N/A INTRINSIC
low complexity region 77 112 N/A INTRINSIC
IGc2 293 362 3.1e-9 SMART
low complexity region 378 403 N/A INTRINSIC
IGc2 427 495 4.92e-12 SMART
IGc2 526 595 1.61e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121493
AA Change: F621L

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113874
Gene: ENSMUSG00000058056
AA Change: F621L

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 unknown
Transcript: ENSMUST00000121785
AA Change: F1027L
SMART Domains Protein: ENSMUSP00000112442
Gene: ENSMUSG00000058056
AA Change: F1027L

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 probably benign
Transcript: ENSMUST00000135439
AA Change: F71L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119792
Gene: ENSMUSG00000058056
AA Change: F71L

DomainStartEndE-ValueType
IGc2 82 151 3.1e-9 SMART
low complexity region 167 192 N/A INTRINSIC
IGc2 216 284 4.92e-12 SMART
internal_repeat_1 302 336 1.47e-9 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136825
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 T C 16: 30,950,133 (GRCm39) D212G probably damaging Het
Add1 C T 5: 34,770,639 (GRCm39) A250V possibly damaging Het
Atxn2 A G 5: 121,916,027 (GRCm39) N411S probably benign Het
AW551984 T C 9: 39,500,395 (GRCm39) T788A probably benign Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Ddx46 A G 13: 55,817,537 (GRCm39) T721A probably damaging Het
Eif2b1 G A 5: 124,717,171 (GRCm39) probably benign Het
Eif4g3 A G 4: 137,905,243 (GRCm39) K1241E probably damaging Het
Engase T A 11: 118,372,142 (GRCm39) Y145N probably benign Het
Fbrs C A 7: 127,087,091 (GRCm39) A674D probably damaging Het
Gm4884 G A 7: 40,694,046 (GRCm39) G672R probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Iars2 T A 1: 185,020,273 (GRCm39) I954F possibly damaging Het
Itgad A T 7: 127,785,120 (GRCm39) I310F probably damaging Het
Kcnmb3 A G 3: 32,526,594 (GRCm39) V199A possibly damaging Het
Kctd12 G T 14: 103,219,622 (GRCm39) D85E probably damaging Het
Lama1 G A 17: 68,125,630 (GRCm39) R2929H probably damaging Het
Lgmn T A 12: 102,368,951 (GRCm39) Y176F probably benign Het
Lipo3 A G 19: 33,533,828 (GRCm39) F335L possibly damaging Het
Map2k3 T C 11: 60,833,150 (GRCm39) S46P probably benign Het
Megf8 C A 7: 25,058,159 (GRCm39) H2144Q probably benign Het
Neb A T 2: 52,124,365 (GRCm39) W3694R probably damaging Het
Nek10 A G 14: 14,861,684 (GRCm38) E580G probably benign Het
Obscn G A 11: 58,929,835 (GRCm39) P5930S probably damaging Het
Pkn2 A T 3: 142,509,348 (GRCm39) I732N probably damaging Het
Plpbp T A 8: 27,542,307 (GRCm39) I214N possibly damaging Het
Ppp1r37 A G 7: 19,266,048 (GRCm39) S573P probably benign Het
Prg4 C A 1: 150,336,432 (GRCm39) C97F probably damaging Het
Prmt2 T C 10: 76,053,208 (GRCm39) D269G possibly damaging Het
Ptbp3 T A 4: 59,517,640 (GRCm39) L80F probably damaging Het
Reep1 T A 6: 71,750,179 (GRCm39) F64I probably damaging Het
Srcap C A 7: 127,141,563 (GRCm39) P1720Q probably damaging Het
Ssr1 A T 13: 38,171,666 (GRCm39) F124I probably damaging Het
Tbx18 A G 9: 87,589,864 (GRCm39) L358P probably damaging Het
Tfpt T C 7: 3,623,835 (GRCm39) K71E probably benign Het
Tmem132a C A 19: 10,837,685 (GRCm39) G542C probably damaging Het
Tmem135 C A 7: 88,956,371 (GRCm39) L81F probably benign Het
Tmem135 A T 7: 88,956,372 (GRCm39) L81* probably null Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Washc5 A G 15: 59,212,739 (GRCm39) probably null Het
Zfp24 T C 18: 24,150,391 (GRCm39) E173G possibly damaging Het
Zgrf1 T C 3: 127,410,155 (GRCm39) I1814T probably 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
R2017:Palld UTSW 8 62,137,799 (GRCm39) missense probably damaging 0.99
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
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'- AGGCATGATCTCTCCTAGTCATAC -3'
(R):5'- TCTCAGGAGATGCTGACTCG -3'

Sequencing Primer
(F):5'- AAGTGTAACTAGAGGATTTCTCCCTC -3'
(R):5'- AGATGCTGACTCGGACCTCTG -3'
Posted On 2018-07-23