Incidental Mutation 'IGL00673:Pals1'
ID 12070
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pals1
Ensembl Gene ENSMUSG00000021112
Gene Name protein associated with LIN7 1, MAGUK family member
Synonyms 3830420B02Rik, Pals1, Mpp5
Accession Numbers
Essential gene? Possibly essential (E-score: 0.545) question?
Stock # IGL00673
Quality Score
Status
Chromosome 12
Chromosomal Location 78795681-78887488 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 78876573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 506 (R506S)
Ref Sequence ENSEMBL: ENSMUSP00000080683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082024] [ENSMUST00000219197]
AlphaFold Q9JLB2
PDB Structure Solution structure of the PDZ domain of Pals1 protein [SOLUTION NMR]
2.1 Angstrom crystal structure of the PALS-1-L27N and PATJ L27 heterodimer complex [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000082024
AA Change: R506S

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000080683
Gene: ENSMUSG00000021112
AA Change: R506S

DomainStartEndE-ValueType
coiled coil region 54 76 N/A INTRINSIC
L27 123 180 2.04e-10 SMART
L27 186 238 7.39e-8 SMART
PDZ 265 336 5.99e-13 SMART
SH3 348 416 1.2e-10 SMART
low complexity region 439 454 N/A INTRINSIC
GuKc 478 663 1.72e-64 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218726
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219180
Predicted Effect probably benign
Transcript: ENSMUST00000219197
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 member of the p55-like subfamily of the membrane-associated guanylate kinase (MAGUK) gene superfamily. The encoded protein participates in the polarization of differentiating cells, has been shown to regulate myelinating Schwann cells (PMID: 20237282), and is one of the components of the Crumbs complex in the retina. Mice which express lower levels of the orthologous protein have retinal degeneration and impaired vision (PMID: 22114289). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a floxed allele activated in cortical neuron exhibit loss of cortex neurons due to premature differentiation and increased apoptosis. These mice also exhibit behavioral defects but are otherwise viable and fertile. Heterozygous mice exhibit an intermediate phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 T C 9: 90,075,714 (GRCm39) S1191P possibly damaging Het
Alg2 C T 4: 47,472,329 (GRCm39) D160N probably damaging Het
Cd177 A T 7: 24,451,442 (GRCm39) F487Y possibly damaging Het
Cdc27 A G 11: 104,419,261 (GRCm39) Y224H probably damaging Het
Cdhr1 A G 14: 36,807,485 (GRCm39) V385A probably benign Het
Cep128 G T 12: 91,200,965 (GRCm39) H31Q probably benign Het
Ehd4 A G 2: 119,932,701 (GRCm39) S242P probably damaging Het
Esco1 A G 18: 10,582,078 (GRCm39) F647L probably damaging Het
Itgbl1 C T 14: 124,083,844 (GRCm39) probably benign Het
Kcnj3 G T 2: 55,485,284 (GRCm39) D461Y possibly damaging Het
Kcnq3 G A 15: 65,867,120 (GRCm39) T841M probably damaging Het
Kcnt2 T G 1: 140,523,789 (GRCm39) N1103K possibly damaging Het
Mib1 A G 18: 10,798,490 (GRCm39) S784G probably benign Het
Miga2 T G 2: 30,257,729 (GRCm39) M9R probably benign Het
Prl2a1 T C 13: 27,992,436 (GRCm39) S187P probably damaging Het
Psg28 A G 7: 18,161,816 (GRCm39) V229A probably damaging Het
Ptdss2 G T 7: 140,723,038 (GRCm39) C84F probably benign Het
Recql T A 6: 142,322,647 (GRCm39) N85I probably null Het
Tex47 A T 5: 7,355,211 (GRCm39) I131F probably damaging Het
Tlk1 G T 2: 70,575,860 (GRCm39) Q323K probably damaging Het
Other mutations in Pals1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:Pals1 APN 12 78,856,595 (GRCm39) missense probably damaging 1.00
IGL01860:Pals1 APN 12 78,877,681 (GRCm39) missense possibly damaging 0.79
R1584:Pals1 UTSW 12 78,876,501 (GRCm39) missense probably benign 0.34
R1632:Pals1 UTSW 12 78,843,812 (GRCm39) nonsense probably null
R2117:Pals1 UTSW 12 78,856,696 (GRCm39) missense possibly damaging 0.81
R2186:Pals1 UTSW 12 78,866,145 (GRCm39) splice site probably benign
R2211:Pals1 UTSW 12 78,844,022 (GRCm39) missense possibly damaging 0.78
R4044:Pals1 UTSW 12 78,871,613 (GRCm39) missense probably benign 0.06
R4224:Pals1 UTSW 12 78,876,492 (GRCm39) missense probably damaging 1.00
R4535:Pals1 UTSW 12 78,871,611 (GRCm39) missense possibly damaging 0.90
R5157:Pals1 UTSW 12 78,867,589 (GRCm39) missense possibly damaging 0.95
R6144:Pals1 UTSW 12 78,871,563 (GRCm39) missense possibly damaging 0.75
R6180:Pals1 UTSW 12 78,864,084 (GRCm39) missense probably benign 0.11
R7037:Pals1 UTSW 12 78,843,973 (GRCm39) missense probably damaging 1.00
R7216:Pals1 UTSW 12 78,844,006 (GRCm39) missense probably damaging 0.99
R8084:Pals1 UTSW 12 78,867,625 (GRCm39) missense probably benign 0.18
R8937:Pals1 UTSW 12 78,866,115 (GRCm39) missense probably benign 0.07
R8983:Pals1 UTSW 12 78,884,298 (GRCm39) missense probably damaging 1.00
R9128:Pals1 UTSW 12 78,843,832 (GRCm39) missense probably benign
R9396:Pals1 UTSW 12 78,871,521 (GRCm39) missense possibly damaging 0.49
R9690:Pals1 UTSW 12 78,866,117 (GRCm39) missense probably damaging 1.00
R9703:Pals1 UTSW 12 78,843,850 (GRCm39) missense probably benign
Posted On 2012-12-06