Incidental Mutation 'IGL02126:Palld'
ID280850
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 #IGL02126
Quality Score
Status
Chromosome8
Chromosomal Location61511433-61902690 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 61877442 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 134 (Y134H)
Ref Sequence ENSEMBL: ENSMUSP00000112442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034057] [ENSMUST00000121785]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034057
AA Change: Y134H

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034057
Gene: ENSMUSG00000058056
AA Change: Y134H

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 possibly damaging
Transcript: ENSMUST00000121785
AA Change: Y134H

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112442
Gene: ENSMUSG00000058056
AA Change: Y134H

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: ENSMUST00000133752
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik G A 7: 28,139,856 V365M probably damaging Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Angptl3 T C 4: 99,031,501 probably null Het
Atoh1 T C 6: 64,729,350 W10R probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Ccm2 A G 11: 6,594,154 T317A probably damaging Het
Ccnt1 A T 15: 98,567,603 W12R probably damaging Het
Celf1 T A 2: 91,001,063 L79H probably damaging Het
Cmip T C 8: 117,449,031 V423A probably damaging Het
Ddr1 T A 17: 35,688,589 I431F probably damaging Het
Dnah6 A G 6: 73,103,166 L2343P probably benign Het
Duox1 A G 2: 122,346,336 D1446G probably benign Het
Erich3 A G 3: 154,713,962 H231R possibly damaging Het
Fam221b T A 4: 43,666,450 I54F probably benign Het
Galntl5 T C 5: 25,189,841 F69L possibly damaging Het
Gba2 T G 4: 43,567,918 probably null Het
Gbf1 C A 19: 46,252,117 P46Q probably damaging Het
Gimap6 T G 6: 48,702,701 S134R probably damaging Het
Gm5424 A C 10: 62,071,598 noncoding transcript Het
Gm5724 T A 6: 141,739,013 T239S probably benign Het
Hexb T C 13: 97,178,024 K404E possibly damaging Het
Hs3st3a1 G A 11: 64,436,505 V147M probably damaging Het
Hsd17b4 T C 18: 50,181,996 V610A probably benign Het
Loxl3 T A 6: 83,048,647 W329R probably damaging Het
Lrrc52 A G 1: 167,446,006 F247S probably damaging Het
Naa38 C T 11: 69,396,219 R42W probably damaging Het
Nadsyn1 G A 7: 143,804,016 Q485* probably null Het
Nid1 A G 13: 13,489,158 probably null Het
Ofcc1 T C 13: 40,208,775 T224A probably benign Het
Olfr1029 T G 2: 85,976,173 I310S probably benign Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Pfn3 T C 13: 55,414,886 D94G possibly damaging Het
Pkhd1 G A 1: 20,117,195 R3630C probably damaging Het
Por T A 5: 135,715,975 F31I probably benign Het
Ppp1r12c T C 7: 4,489,859 E127G probably benign Het
Ppp1r9a T A 6: 5,156,229 S1162T probably damaging Het
Psen2 C A 1: 180,229,923 A297S probably benign Het
Rpusd2 G A 2: 119,038,638 R514Q probably damaging Het
Rxrg A G 1: 167,634,460 M235V probably damaging Het
Sash1 T C 10: 8,739,465 M644V probably damaging Het
Sf3b3 T C 8: 110,823,443 T648A probably benign Het
Ssu72 T C 4: 155,732,026 I155T probably benign Het
Tas2r102 A G 6: 132,762,644 R172G probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Trav12-2 C A 14: 53,616,402 N2K probably damaging Het
Tyrp1 C T 4: 80,837,608 Q205* probably null Het
Ubr4 T A 4: 139,452,741 probably null Het
Ush2a A G 1: 188,263,391 S120G probably benign Het
Vmn2r100 T C 17: 19,521,242 probably benign Het
Zer1 G T 2: 30,104,916 T489K probably benign Het
Zfp955b G T 17: 33,302,264 G236* probably null 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
IGL02537:Palld APN 8 61684934 missense probably benign 0.05
IGL02632:Palld APN 8 61515245 missense probably damaging 1.00
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