Incidental Mutation 'IGL02632:Palld'
ID301367
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Palld
Ensembl Gene ENSMUSG00000058056
Gene Namepalladin, cytoskeletal associated protein
Synonyms2410003B16Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02632
Quality Score
Status
Chromosome8
Chromosomal Location61511433-61902690 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 61515245 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 1096 (E1096K)
Ref Sequence ENSEMBL: ENSMUSP00000034057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034057] [ENSMUST00000121200] [ENSMUST00000121493] [ENSMUST00000121785] [ENSMUST00000135439]
PDB Structure
NMR structure of Ig3 domain of palladin [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000034057
AA Change: E1096K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034057
Gene: ENSMUSG00000058056
AA Change: E1096K

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: E593K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112374
Gene: ENSMUSG00000058056
AA Change: E593K

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 damaging
Transcript: ENSMUST00000121493
AA Change: E932K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113874
Gene: ENSMUSG00000058056
AA Change: E932K

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: E1338K
SMART Domains Protein: ENSMUSP00000112442
Gene: ENSMUSG00000058056
AA Change: E1338K

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
SMART Domains Protein: ENSMUSP00000119792
Gene: ENSMUSG00000058056

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
Coding Region Coverage
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 T C 8: 40,755,200 V501A possibly damaging Het
Alpl T G 4: 137,753,906 N145T probably damaging Het
Aqp5 T A 15: 99,593,335 probably benign Het
Armc4 A G 18: 7,214,727 probably benign Het
Atp1a2 T A 1: 172,280,614 D640V possibly damaging Het
Atp5o T C 16: 91,928,942 E49G probably benign Het
Card14 A G 11: 119,338,904 D747G probably benign Het
Cpz A T 5: 35,511,811 D325E possibly damaging Het
Crim1 T C 17: 78,372,674 I948T probably benign Het
Dpysl3 A T 18: 43,393,025 S2T possibly damaging Het
Fat4 T C 3: 39,002,764 V4203A probably benign Het
Gapvd1 G A 2: 34,684,174 probably benign Het
Gm7173 A T X: 79,496,673 L553H probably damaging Het
Gpatch2 A G 1: 187,225,981 R155G probably damaging Het
Grpr A T X: 163,515,094 V318E probably damaging Het
Hipk1 T C 3: 103,760,545 T569A probably benign Het
Il3ra G A 14: 14,350,807 probably null Het
Llgl2 A G 11: 115,844,872 H98R probably damaging Het
Loxhd1 A G 18: 77,405,932 D663G probably damaging Het
Lrrc71 T C 3: 87,743,340 N205S probably damaging Het
Mamdc2 C T 19: 23,330,976 E521K probably benign Het
Mapre2 A G 18: 23,858,160 M162V probably benign Het
Mettl22 T C 16: 8,484,253 probably benign Het
Mib2 T C 4: 155,655,579 D739G probably damaging Het
Mroh2b T C 15: 4,931,101 F772S probably damaging Het
Mtss1 C T 15: 58,944,015 M565I probably damaging Het
Myt1l T G 12: 29,914,293 S1077A unknown Het
Nalcn T C 14: 123,317,853 T873A probably benign Het
Nwd1 T A 8: 72,667,454 H448Q possibly damaging Het
Olfr1052 T C 2: 86,298,560 V248A probably damaging Het
Olfr114 T C 17: 37,590,341 E4G probably benign Het
Olfr631 A G 7: 103,929,707 I295V possibly damaging Het
Pdcd2 A G 17: 15,521,792 V292A probably damaging Het
Pde2a A G 7: 101,504,656 Y477C probably damaging Het
Pramef25 A G 4: 143,949,937 I199T possibly damaging Het
Rcbtb1 T C 14: 59,224,682 L254P probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rsl1 A C 13: 67,182,163 H225P probably damaging Het
Sec14l2 T C 11: 4,111,222 I80V probably benign Het
Sema6a G T 18: 47,290,155 D261E probably damaging Het
Serpinb9b T A 13: 33,039,823 S333T probably benign Het
Slc24a4 T C 12: 102,234,682 V277A probably benign Het
Snap91 T A 9: 86,839,522 H88L possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tmprss15 T A 16: 78,985,902 N758I probably damaging Het
Ube3b C T 5: 114,398,841 A300V probably benign Het
Vmn2r82 G A 10: 79,356,708 V40I probably benign Het
Vsig4 G T X: 96,247,772 Q265K probably benign Het
Wdr91 T C 6: 34,889,042 D525G probably damaging Het
Other mutations in Palld
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00917:Palld APN 8 61515935 missense possibly damaging 0.77
IGL01083:Palld APN 8 61538807 missense probably benign 0.44
IGL01644:Palld APN 8 61877478 missense probably benign 0.28
IGL01672:Palld APN 8 61877502 missense probably benign 0.22
IGL01941:Palld APN 8 61535700 missense probably benign 0.44
IGL02037:Palld APN 8 61525114 missense probably damaging 1.00
IGL02126:Palld APN 8 61877442 missense possibly damaging 0.82
IGL02537:Palld APN 8 61684934 missense probably benign 0.05
IGL02809:Palld APN 8 61515247 missense probably damaging 1.00
IGL02901:Palld APN 8 61876995 nonsense probably null
IGL03400:Palld APN 8 61513455 missense probably damaging 1.00
R0098:Palld UTSW 8 61525086 missense probably damaging 1.00
R0098:Palld UTSW 8 61525086 missense probably damaging 1.00
R0745:Palld UTSW 8 61877703 missense probably damaging 1.00
R1263:Palld UTSW 8 61513457 frame shift probably null
R1342:Palld UTSW 8 61522882 critical splice donor site probably null
R1893:Palld UTSW 8 61516621 missense probably damaging 1.00
R2017:Palld UTSW 8 61684765 missense probably damaging 0.99
R2102:Palld UTSW 8 61533433 missense possibly damaging 0.82
R2129:Palld UTSW 8 61877361 missense probably benign 0.00
R2246:Palld UTSW 8 61877135 missense probably benign 0.01
R3545:Palld UTSW 8 61550078 missense possibly damaging 0.95
R3815:Palld UTSW 8 61549837 intron probably benign
R3824:Palld UTSW 8 61709033 missense probably damaging 1.00
R4412:Palld UTSW 8 61687372 missense probably damaging 0.98
R4781:Palld UTSW 8 61877028 missense probably benign 0.01
R4836:Palld UTSW 8 61687381 missense probably benign 0.11
R4871:Palld UTSW 8 61549781 intron probably benign
R4963:Palld UTSW 8 61703210 missense probably damaging 1.00
R5036:Palld UTSW 8 61550162 missense probably damaging 1.00
R5128:Palld UTSW 8 61720588 missense probably damaging 1.00
R5343:Palld UTSW 8 61549815 intron probably benign
R5421:Palld UTSW 8 61516550 missense probably damaging 1.00
R5427:Palld UTSW 8 61550072 missense probably benign 0.01
R5561:Palld UTSW 8 61516585 missense probably damaging 1.00
R5651:Palld UTSW 8 61538788 missense probably damaging 1.00
R5679:Palld UTSW 8 61684945 missense possibly damaging 0.95
R5915:Palld UTSW 8 61533352 critical splice donor site probably null
R6153:Palld UTSW 8 61550152 missense probably damaging 1.00
R6276:Palld UTSW 8 61513423 missense probably damaging 1.00
R6323:Palld UTSW 8 61720693 missense probably damaging 1.00
R6659:Palld UTSW 8 61533443 missense probably benign 0.28
R7016:Palld UTSW 8 61515998 missense probably damaging 1.00
R7124:Palld UTSW 8 61516645 missense unknown
R7145:Palld UTSW 8 61532017 missense unknown
Posted On2015-04-16