Incidental Mutation 'R9228:Palld'
ID 700017
Institutional Source Beutler Lab
Gene Symbol Palld
Ensembl Gene ENSMUSG00000058056
Gene Name palladin, cytoskeletal associated protein
Synonyms 2410003B16Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9228 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 61964467-62355724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62173571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 363 (S363T)
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: S363T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034057
Gene: ENSMUSG00000058056
AA Change: S363T

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: ENSMUST00000121493
SMART Domains Protein: ENSMUSP00000113874
Gene: ENSMUSG00000058056

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: S363T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112442
Gene: ENSMUSG00000058056
AA Change: S363T

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
Meta Mutation Damage Score 0.2338 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (87/87)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810037I17Rik G A 3: 122,718,274 (GRCm39) A56T probably benign Het
4930438A08Rik A T 11: 58,178,296 (GRCm39) I119F Het
Abca12 A T 1: 71,332,599 (GRCm39) I1254N probably damaging Het
Abcb11 G T 2: 69,138,809 (GRCm39) Y157* probably null Het
Adcy7 G A 8: 89,044,675 (GRCm39) probably null Het
Adnp A G 2: 168,026,798 (GRCm39) Y166H probably damaging Het
Adprhl1 A G 8: 13,275,279 (GRCm39) V493A probably benign Het
Ahctf1 T C 1: 179,611,685 (GRCm39) T562A probably benign Het
Amotl1 T A 9: 14,504,320 (GRCm39) N296I possibly damaging Het
Ankar A G 1: 72,713,210 (GRCm39) V693A probably benign Het
Ankrd16 T C 2: 11,786,318 (GRCm39) V189A probably benign Het
Bmp1 A G 14: 70,757,338 (GRCm39) L47P probably benign Het
Cacna2d4 A G 6: 119,248,476 (GRCm39) D429G probably benign Het
Cadps2 T A 6: 23,688,927 (GRCm39) E127D probably benign Het
Cd109 A T 9: 78,577,042 (GRCm39) I580F possibly damaging Het
Cdrt4 T A 11: 62,842,124 (GRCm39) I2N unknown Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Chuk A T 19: 44,095,789 (GRCm39) W15R probably damaging Het
Cpvl C T 6: 53,951,779 (GRCm39) M1I probably null Het
Cyfip1 A G 7: 55,549,758 (GRCm39) M642V probably damaging Het
Dhh T A 15: 98,795,757 (GRCm39) R133* probably null Het
Dnmt3b G A 2: 153,507,980 (GRCm39) V212M probably benign Het
Dync2li1 A G 17: 84,957,137 (GRCm39) S301G probably benign Het
Epas1 A C 17: 87,133,990 (GRCm39) I500L possibly damaging Het
Ephb4 A T 5: 137,352,824 (GRCm39) I136F possibly damaging Het
Foxg1 T C 12: 49,431,320 (GRCm39) F18L unknown Het
Frem1 T C 4: 82,920,057 (GRCm39) E432G probably damaging Het
Gpld1 A T 13: 25,136,900 (GRCm39) S73C probably damaging Het
Hddc3 A G 7: 79,993,328 (GRCm39) I52V probably benign Het
Hmgcll1 A T 9: 75,991,732 (GRCm39) T252S probably damaging Het
Igsf10 G A 3: 59,243,843 (GRCm39) R164W probably damaging Het
Jph2 A G 2: 163,180,606 (GRCm39) V675A probably benign Het
Kifap3 T C 1: 163,689,666 (GRCm39) F550S probably benign Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Kplce C T 3: 92,775,951 (GRCm39) G244D probably benign Het
L1td1 T C 4: 98,625,932 (GRCm39) V643A possibly damaging Het
L3mbtl3 C T 10: 26,212,155 (GRCm39) M255I unknown Het
Layn T A 9: 50,968,837 (GRCm39) D302V probably damaging Het
Lpcat4 A G 2: 112,072,418 (GRCm39) I136V possibly damaging Het
Lrp1 T A 10: 127,382,807 (GRCm39) D3658V probably damaging Het
Metap1d T C 2: 71,352,900 (GRCm39) L243S possibly damaging Het
Midn T A 10: 79,990,275 (GRCm39) H315Q probably damaging Het
Mtrex A T 13: 113,050,888 (GRCm39) probably null Het
Myb C T 10: 21,030,612 (GRCm39) D62N probably benign Het
Myh2 T C 11: 67,077,522 (GRCm39) S886P probably benign Het
Nemf T C 12: 69,388,093 (GRCm39) I396V probably damaging Het
Nemp1 T G 10: 127,525,227 (GRCm39) V127G possibly damaging Het
Nkx3-1 C T 14: 69,428,227 (GRCm39) T25M possibly damaging Het
Nmral1 A C 16: 4,531,631 (GRCm39) L208R probably damaging Het
Nol6 A T 4: 41,116,422 (GRCm39) I989N probably benign Het
Or12e7 T A 2: 87,287,907 (GRCm39) C133S possibly damaging Het
Pcdha11 A G 18: 37,144,512 (GRCm39) D201G probably damaging Het
Per2 A G 1: 91,366,081 (GRCm39) C339R probably damaging Het
Phactr4 T C 4: 132,097,874 (GRCm39) T455A possibly damaging Het
Phc2 T C 4: 128,617,062 (GRCm39) I445T probably damaging Het
Pmepa1 T C 2: 173,117,962 (GRCm39) T6A probably benign Het
Polr1a T C 6: 71,931,755 (GRCm39) F945L probably damaging Het
Ppp2r5e T A 12: 75,640,063 (GRCm39) K13* probably null Het
Ptafr T C 4: 132,306,613 (GRCm39) M1T probably null Het
Rbms1 G A 2: 60,610,087 (GRCm39) P208S probably benign Het
Scg3 T A 9: 75,558,955 (GRCm39) I419F probably damaging Het
Scn1a T C 2: 66,130,099 (GRCm39) T219A probably benign Het
Sec14l4 A G 11: 3,989,977 (GRCm39) D92G probably damaging Het
Senp3 G T 11: 69,569,085 (GRCm39) Q359K probably damaging Het
Sirt1 T C 10: 63,172,857 (GRCm39) D142G probably damaging Het
Skint2 T C 4: 112,483,039 (GRCm39) M148T possibly damaging Het
Slc30a10 T A 1: 185,187,391 (GRCm39) M44K probably damaging Het
Snai2 T A 16: 14,524,792 (GRCm39) D99E probably damaging Het
Spg7 A G 8: 123,807,408 (GRCm39) K395E possibly damaging Het
Sphk2 G A 7: 45,360,337 (GRCm39) H556Y possibly damaging Het
Supt6 A C 11: 78,116,612 (GRCm39) F637L probably benign Het
Tcam1 A G 11: 106,177,292 (GRCm39) N428S probably damaging Het
Tctn3 C T 19: 40,596,692 (GRCm39) R276K probably benign Het
Timm29 G A 9: 21,504,656 (GRCm39) R108H probably damaging Het
Tlr9 A T 9: 106,102,752 (GRCm39) E681V possibly damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tns3 T C 11: 8,400,094 (GRCm39) K1169E probably damaging Het
Trim72 A C 7: 127,608,315 (GRCm39) D271A possibly damaging Het
Trpv4 A T 5: 114,772,622 (GRCm39) D369E probably benign Het
Ttn A G 2: 76,583,192 (GRCm39) L22567P probably damaging Het
Uimc1 G A 13: 55,223,652 (GRCm39) P207S probably damaging Het
Unc5d A T 8: 29,165,448 (GRCm39) V781E probably damaging Het
Upk3bl C T 5: 136,086,076 (GRCm39) P4L unknown Het
Vmn1r201 A G 13: 22,659,670 (GRCm39) N295D probably benign Het
Vmn2r69 A G 7: 85,064,697 (GRCm39) I63T probably benign Het
Zfyve28 T C 5: 34,374,788 (GRCm39) T409A probably benign 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
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
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'- CTTGACTGTCAGAACTGTTCAAGG -3'
(R):5'- GCTTGTCCCACAGATGGTTC -3'

Sequencing Primer
(F):5'- CAGTGCACTCCAAGAAGTTTG -3'
(R):5'- CAGATGGTTCTGTGAGGGGAAG -3'
Posted On 2022-02-07