Incidental Mutation 'R8906:Palld'
ID 680115
Institutional Source Beutler Lab
Gene Symbol Palld
Ensembl Gene ENSMUSG00000058056
Gene Name palladin, cytoskeletal associated protein
Synonyms 2410003B16Rik
MMRRC Submission 068699-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8906 (G1)
Quality Score 148.008
Status Validated
Chromosome 8
Chromosomal Location 61964467-62355724 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 62003198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034057] [ENSMUST00000121200] [ENSMUST00000121493] [ENSMUST00000121785] [ENSMUST00000135439] [ENSMUST00000135439]
AlphaFold Q9ET54
Predicted Effect probably benign
Transcript: ENSMUST00000034057
SMART Domains Protein: ENSMUSP00000034057
Gene: ENSMUSG00000058056

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
SMART Domains Protein: ENSMUSP00000112374
Gene: ENSMUSG00000058056

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 silent
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 silent
Transcript: ENSMUST00000121785
SMART Domains Protein: ENSMUSP00000112442
Gene: ENSMUSG00000058056

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 null
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 probably null
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (88/88)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik A C 19: 3,766,686 (GRCm39) N91T possibly damaging Het
2510009E07Rik CCGGAAGGGGAGGAGCAGTGACCCAGTTTCGGA CCGGA 16: 21,472,148 (GRCm39) probably null Het
4932414N04Rik A G 2: 68,562,498 (GRCm39) D375G possibly damaging Het
Adad2 C A 8: 120,339,725 (GRCm39) P69Q probably benign Het
Adamts3 G A 5: 89,825,575 (GRCm39) T1088I probably damaging Het
Ank2 A G 3: 126,726,720 (GRCm39) V858A probably benign Het
Ankrd13a A G 5: 114,939,798 (GRCm39) N475S probably benign Het
Barhl2 G A 5: 106,603,352 (GRCm39) T269I probably benign Het
Boc G A 16: 44,323,931 (GRCm39) R157W Het
Bsn G T 9: 107,984,752 (GRCm39) P3101T unknown Het
Catsperb C A 12: 101,486,904 (GRCm39) A477E possibly damaging Het
Ccser1 T A 6: 61,787,842 (GRCm39) I220K probably benign Het
Cd200r3 A T 16: 44,778,102 (GRCm39) I242F possibly damaging Het
Cdc34b A C 11: 94,632,911 (GRCm39) D37A probably damaging Het
Chek2 A G 5: 111,013,458 (GRCm39) probably benign Het
Cngb1 A T 8: 95,989,736 (GRCm39) V792D probably damaging Het
Cops7a T C 6: 124,939,371 (GRCm39) K93E possibly damaging Het
Crispld1 T C 1: 17,820,995 (GRCm39) I345T possibly damaging Het
Dgkd A G 1: 87,869,157 (GRCm39) D1170G probably damaging Het
Dhx35 A G 2: 158,648,918 (GRCm39) T115A possibly damaging Het
Dnai1 G A 4: 41,625,125 (GRCm39) R363H probably benign Het
Dnmbp T A 19: 43,878,681 (GRCm39) Q130L probably benign Het
Egfr A G 11: 16,861,635 (GRCm39) Y1138C probably damaging Het
Elf3 A T 1: 135,182,678 (GRCm39) L329Q probably damaging Het
Enkur A G 2: 21,201,568 (GRCm39) M39T probably benign Het
Epha7 T C 4: 28,821,615 (GRCm39) I260T probably damaging Het
Fbxo28 A T 1: 182,144,634 (GRCm39) I310K probably damaging Het
Fga C A 3: 82,939,111 (GRCm39) N495K probably benign Het
Galnt6 T C 15: 100,601,247 (GRCm39) D344G probably damaging Het
Gm572 A G 4: 148,751,290 (GRCm39) Q221R probably benign Het
Gpa33 G A 1: 165,974,216 (GRCm39) A18T probably benign Het
Gpatch11 C T 17: 79,145,289 (GRCm39) T6I probably benign Het
Gpr84 T A 15: 103,217,625 (GRCm39) S151C probably damaging Het
H2-M11 T A 17: 36,859,851 (GRCm39) Y281* probably null Het
Hadh T C 3: 131,038,891 (GRCm39) N155S probably benign Het
Hoxd13 A G 2: 74,500,266 (GRCm39) Y269C Het
Iars1 T A 13: 49,882,177 (GRCm39) C1074S probably benign Het
Ibtk G T 9: 85,625,457 (GRCm39) H98N possibly damaging Het
Igsf10 C T 3: 59,233,739 (GRCm39) G1665R probably benign Het
Inpp5d A G 1: 87,625,337 (GRCm39) probably benign Het
Ipo9 A C 1: 135,321,951 (GRCm39) V593G probably damaging Het
Irx3 T C 8: 92,526,915 (GRCm39) D263G possibly damaging Het
Kif13a A G 13: 46,927,154 (GRCm39) V1179A probably benign Het
Lrrc4c T C 2: 97,460,393 (GRCm39) Y340H probably benign Het
Lysmd1 A G 3: 95,045,219 (GRCm39) D155G probably damaging Het
Mical2 T A 7: 111,980,671 (GRCm39) I105N probably damaging Het
Mob2 A T 7: 141,563,261 (GRCm39) L66Q probably damaging Het
Myh1 A G 11: 67,096,739 (GRCm39) S337G probably benign Het
Neb T C 2: 52,096,259 (GRCm39) D1002G probably benign Het
Nebl A T 2: 17,382,928 (GRCm39) N116K probably benign Het
Nkx2-6 T C 14: 69,412,623 (GRCm39) S264P probably benign Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Nlrp4e A G 7: 23,020,556 (GRCm39) T348A possibly damaging Het
Nomo1 A T 7: 45,722,004 (GRCm39) I982F probably benign Het
Or10j5 A G 1: 172,784,186 (GRCm39) probably benign Het
Or11g24 T G 14: 50,662,291 (GRCm39) F105C probably damaging Het
Or1j19 A T 2: 36,676,621 (GRCm39) Y28F probably benign Het
Or8g22 A G 9: 38,958,077 (GRCm39) F213L possibly damaging Het
Pcdh7 A G 5: 57,879,154 (GRCm39) Y903C probably damaging Het
Pknox2 G A 9: 36,804,167 (GRCm39) T460M possibly damaging Het
Ppm1h C T 10: 122,714,451 (GRCm39) T330I probably damaging Het
Ppp2r2b C T 18: 42,821,399 (GRCm39) R253H probably damaging Het
Pramel58 G T 5: 94,831,413 (GRCm39) R140L possibly damaging Het
Prr18 G A 17: 8,560,476 (GRCm39) A211T probably benign Het
Ptgs2 A G 1: 149,979,859 (GRCm39) I321M Het
Rara G T 11: 98,860,989 (GRCm39) R159L probably damaging Het
Rasa4 T A 5: 136,133,446 (GRCm39) I635N probably benign Het
Rxfp2 A T 5: 149,989,888 (GRCm39) H423L possibly damaging Het
Scn4b A G 9: 45,059,169 (GRCm39) I147V possibly damaging Het
Scrn3 G A 2: 73,161,352 (GRCm39) V313I probably benign Het
Scrn3 C A 2: 73,161,355 (GRCm39) P314T possibly damaging Het
Sh2b1 A G 7: 126,070,292 (GRCm39) probably null Het
Slc26a10 T C 10: 127,016,459 (GRCm39) Q3R probably benign Het
Slitrk1 A G 14: 109,149,139 (GRCm39) I524T probably damaging Het
Smcp T A 3: 92,491,530 (GRCm39) N106Y unknown Het
Spata31h1 T C 10: 82,122,379 (GRCm39) T3544A probably benign Het
St8sia5 G A 18: 77,336,172 (GRCm39) V202M probably damaging Het
Stxbp5l A T 16: 37,028,526 (GRCm39) D512E probably damaging Het
Tas1r2 A G 4: 139,397,046 (GRCm39) E795G probably damaging Het
Tdrd1 T A 19: 56,831,145 (GRCm39) V320D probably damaging Het
Tmem71 T A 15: 66,404,606 (GRCm39) I261L probably benign Het
Tns2 T C 15: 102,020,039 (GRCm39) L643P probably damaging Het
Upf1 G A 8: 70,786,815 (GRCm39) Q890* probably null Het
Usp43 A T 11: 67,782,307 (GRCm39) H370Q possibly damaging Het
Vmn1r236 T A 17: 21,507,356 (GRCm39) I158N possibly damaging Het
Vmn2r98 T A 17: 19,286,532 (GRCm39) N343K probably benign Het
Vwa8 T C 14: 79,329,815 (GRCm39) S1216P probably benign Het
Yars1 A C 4: 129,090,747 (GRCm39) D97A probably damaging Het
Zer1 G A 2: 30,001,035 (GRCm39) H129Y probably benign Het
Zfat C T 15: 67,956,404 (GRCm39) D1143N 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
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
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'- ACAATGGTGACGGCAAGCTG -3'
(R):5'- TCCCATGAGAAACTCTGTGTATG -3'

Sequencing Primer
(F):5'- ATGAACTGCTTAGGGCGC -3'
(R):5'- CATGAGAAACTCTGTGTATGCGTGC -3'
Posted On 2021-08-31