Incidental Mutation 'R1893:Palld'
ID 211710
Institutional Source Beutler Lab
Gene Symbol Palld
Ensembl Gene ENSMUSG00000058056
Gene Name palladin, cytoskeletal associated protein
Synonyms 2410003B16Rik
MMRRC Submission 039913-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1893 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 61964467-62355724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61969655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 981 (V981A)
Ref Sequence ENSEMBL: ENSMUSP00000034057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034057] [ENSMUST00000121200] [ENSMUST00000121493] [ENSMUST00000121785] [ENSMUST00000135439]
AlphaFold Q9ET54
PDB Structure NMR structure of Ig3 domain of palladin [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000034057
AA Change: V981A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034057
Gene: ENSMUSG00000058056
AA Change: V981A

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 damaging
Transcript: ENSMUST00000121200
AA Change: V478A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112374
Gene: ENSMUSG00000058056
AA Change: V478A

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 unknown
Transcript: ENSMUST00000121493
AA Change: V817A
SMART Domains Protein: ENSMUSP00000113874
Gene: ENSMUSG00000058056
AA Change: V817A

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: V1223A
SMART Domains Protein: ENSMUSP00000112442
Gene: ENSMUSG00000058056
AA Change: V1223A

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 damaging
Transcript: ENSMUST00000135439
AA Change: V267A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119792
Gene: ENSMUSG00000058056
AA Change: V267A

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: ENSMUST00000153495
Meta Mutation Damage Score 0.3672 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
Validation Efficiency 99% (99/100)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,415,928 (GRCm39) Y674H possibly damaging Het
Aars2 G A 17: 45,825,725 (GRCm39) R347Q probably benign Het
Abca15 A T 7: 119,939,776 (GRCm39) M293L possibly damaging Het
Abcb7 A T X: 103,386,142 (GRCm39) H97Q probably damaging Het
Aldh1l2 G T 10: 83,328,400 (GRCm39) N772K probably damaging Het
Ascc2 T A 11: 4,622,305 (GRCm39) L457Q probably benign Het
Aspm T A 1: 139,407,605 (GRCm39) I2164N probably damaging Het
Cabs1 A G 5: 88,127,894 (GRCm39) T182A probably benign Het
Carmil1 T C 13: 24,208,446 (GRCm39) E833G possibly damaging Het
Ccdc102a G A 8: 95,640,171 (GRCm39) T41M probably damaging Het
Cimap1c A G 9: 56,756,498 (GRCm39) Y173H probably benign Het
Clec2h T C 6: 128,647,795 (GRCm39) V48A probably benign Het
Cpb2 G A 14: 75,493,403 (GRCm39) V27I probably benign Het
Cr2 T C 1: 194,837,495 (GRCm39) H1201R probably benign Het
Cyp2d9 T C 15: 82,336,807 (GRCm39) V52A probably damaging Het
Cyp4a12a C A 4: 115,183,864 (GRCm39) N223K probably benign Het
Cyp7b1 G A 3: 18,150,731 (GRCm39) S336L possibly damaging Het
Dnah10 T C 5: 124,831,381 (GRCm39) V803A probably benign Het
Dnah17 T A 11: 117,957,794 (GRCm39) T2745S probably benign Het
Ep300 T A 15: 81,515,847 (GRCm39) probably benign Het
Epha3 A G 16: 63,388,762 (GRCm39) S829P probably damaging Het
Fads3 C A 19: 10,033,868 (GRCm39) H418N probably benign Het
Fat1 T C 8: 45,476,893 (GRCm39) S1980P probably damaging Het
Fgf20 T C 8: 40,732,844 (GRCm39) E198G possibly damaging Het
Fgl2 G A 5: 21,580,669 (GRCm39) R337H probably benign Het
Gbp2 G T 3: 142,335,933 (GRCm39) probably benign Het
Gja10 G A 4: 32,601,541 (GRCm39) S281L probably benign Het
Gm5422 G A 10: 31,125,609 (GRCm39) noncoding transcript Het
Gmpr T A 13: 45,674,423 (GRCm39) D129E possibly damaging Het
Gtf3c4 C T 2: 28,724,374 (GRCm39) V453I possibly damaging Het
Heatr6 T C 11: 83,648,140 (GRCm39) V111A probably benign Het
Hipk3 G A 2: 104,263,601 (GRCm39) R905W probably damaging Het
Hpn T A 7: 30,798,773 (GRCm39) D103V probably damaging Het
Ipcef1 G A 10: 6,850,680 (GRCm39) R304W probably damaging Het
Iqcb1 A G 16: 36,652,245 (GRCm39) D52G probably damaging Het
Klhdc7b C T 15: 89,271,898 (GRCm39) probably null Het
Klhl1 A T 14: 96,477,642 (GRCm39) probably null Het
Lrrn1 A T 6: 107,545,083 (GRCm39) I294F possibly damaging Het
Map3k1 A T 13: 111,904,567 (GRCm39) F406I possibly damaging Het
Map4k4 T A 1: 40,040,717 (GRCm39) V579E probably benign Het
Mapre2 A G 18: 23,986,774 (GRCm39) K62R probably damaging Het
Mdga1 A T 17: 30,068,200 (GRCm39) Y305N probably damaging Het
Mgl2 T A 11: 70,024,993 (GRCm39) probably null Het
Mnx1 C T 5: 29,682,828 (GRCm39) G149D unknown Het
Mtbp T A 15: 55,421,064 (GRCm39) S17T probably benign Het
Neu3 T C 7: 99,472,627 (GRCm39) T37A possibly damaging Het
Nr1i3 T C 1: 171,044,792 (GRCm39) probably null Het
Or10al2 A T 17: 37,983,747 (GRCm39) K278* probably null Het
Or10g6 A T 9: 39,934,270 (GRCm39) I194F possibly damaging Het
Or6ae1 T C 7: 139,742,734 (GRCm39) N43S probably damaging Het
Or9s18 T A 13: 65,300,806 (GRCm39) M256K possibly damaging Het
Osr2 A G 15: 35,300,608 (GRCm39) T55A possibly damaging Het
Pbx1 A T 1: 168,030,979 (GRCm39) M213K possibly damaging Het
Pcdhb12 C A 18: 37,570,136 (GRCm39) H427Q probably benign Het
Perm1 C T 4: 156,302,340 (GRCm39) R295C probably benign Het
Phaf1 G T 8: 105,973,133 (GRCm39) V248F probably damaging Het
Polm T C 11: 5,785,574 (GRCm39) T162A possibly damaging Het
Prox1 A G 1: 189,892,715 (GRCm39) probably benign Het
Ptpn7 A T 1: 135,062,641 (GRCm39) T127S probably benign Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Rab21 T C 10: 115,126,805 (GRCm39) T181A probably benign Het
Rab38 A T 7: 88,139,924 (GRCm39) T198S probably benign Het
Rnase4 C G 14: 51,342,395 (GRCm39) Q40E possibly damaging Het
Rnf213 T A 11: 119,307,274 (GRCm39) W645R probably damaging Het
Rnf8 A G 17: 29,840,524 (GRCm39) I51M probably damaging Het
Sbpl T A 17: 24,172,241 (GRCm39) D226V unknown Het
Sdf4 T G 4: 156,085,205 (GRCm39) I180S probably benign Het
Simc1 A G 13: 54,687,528 (GRCm39) K99R probably damaging Het
Slc2a4 T C 11: 69,837,398 (GRCm39) Q49R probably damaging Het
Slco1a4 T C 6: 141,780,342 (GRCm39) probably null Het
Slco5a1 C A 1: 12,964,696 (GRCm39) C527F probably damaging Het
Sox6 T A 7: 115,143,803 (GRCm39) N405I probably benign Het
Sphkap G A 1: 83,256,687 (GRCm39) P354L probably benign Het
Spi1 A G 2: 90,944,702 (GRCm39) D149G probably benign Het
Sptan1 T A 2: 29,910,472 (GRCm39) D1812E probably damaging Het
Sub1 A T 15: 11,991,130 (GRCm39) V37E possibly damaging Het
Sult2a6 T C 7: 13,959,814 (GRCm39) T240A probably benign Het
Tacc2 A G 7: 130,227,055 (GRCm39) S1247G probably benign Het
Taf4 T C 2: 179,574,823 (GRCm39) D594G probably damaging Het
Tap1 T G 17: 34,413,915 (GRCm39) D643E probably damaging Het
Ticam1 T C 17: 56,578,894 (GRCm39) N67S probably benign Het
Tlr6 A G 5: 65,110,556 (GRCm39) F784L probably damaging Het
Tmprss15 A G 16: 78,868,306 (GRCm39) V202A probably benign Het
Trp53bp2 T C 1: 182,259,193 (GRCm39) V82A probably benign Het
Ube2o C T 11: 116,439,661 (GRCm39) V170I possibly damaging Het
Ube2q2l A G 6: 136,378,825 (GRCm39) S2P possibly damaging Het
Vmn1r177 G A 7: 23,565,573 (GRCm39) T101I probably benign Het
Vmn2r68 A T 7: 84,883,867 (GRCm39) Y79* probably null Het
Wdr35 A C 12: 9,035,994 (GRCm39) Y255S probably benign Het
Zfp507 A T 7: 35,502,052 (GRCm39) probably benign Het
Zfp688 G A 7: 127,018,409 (GRCm39) R239C probably damaging Het
Zfp74 T A 7: 29,635,470 (GRCm39) probably null Het
Zfp932 A G 5: 110,157,069 (GRCm39) N223D 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
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
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'- GTATTTCAGCACCAGGATTCCC -3'
(R):5'- CTGGATCCGTAACTCTTGGTG -3'

Sequencing Primer
(F):5'- TGGCTGCCACCTGAAATG -3'
(R):5'- ATCCGTAACTCTTGGTGATTTGATG -3'
Posted On 2014-06-30