Incidental Mutation 'IGL00863:Pals1'
ID 12068
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 # IGL00863
Quality Score
Status
Chromosome 12
Chromosomal Location 78795681-78887488 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78856595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 146 (D146G)
Ref Sequence ENSEMBL: ENSMUSP00000151349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082024] [ENSMUST00000219197] [ENSMUST00000219667]
AlphaFold Q9JLB2
Predicted Effect possibly damaging
Transcript: ENSMUST00000082024
AA Change: D146G

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000080683
Gene: ENSMUSG00000021112
AA Change: D146G

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 probably damaging
Transcript: ENSMUST00000219197
AA Change: D146G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000219667
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bsn A G 9: 107,992,521 (GRCm39) I1077T probably damaging Het
Car8 A G 4: 8,183,251 (GRCm39) probably null Het
Ccdc192 A T 18: 57,727,158 (GRCm39) E136V probably damaging Het
Ccny A T 18: 9,345,444 (GRCm39) D143E probably benign Het
Cdh19 A G 1: 110,876,874 (GRCm39) V155A probably damaging Het
Cript T A 17: 87,335,151 (GRCm39) I14N probably damaging Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Cyria A T 12: 12,409,235 (GRCm39) I72F probably benign Het
Eef1b2 G A 1: 63,217,665 (GRCm39) G91R probably damaging Het
Fbln5 A G 12: 101,776,175 (GRCm39) V60A probably damaging Het
Fbn1 T A 2: 125,245,139 (GRCm39) E249D possibly damaging Het
G6pc1 G T 11: 101,261,549 (GRCm39) R83L probably damaging Het
Grik2 A G 10: 49,232,024 (GRCm39) V502A possibly damaging Het
Heatr1 T C 13: 12,450,009 (GRCm39) V2001A probably benign Het
Il4i1 T A 7: 44,487,470 (GRCm39) Y148* probably null Het
Jmjd4 T C 11: 59,341,569 (GRCm39) S113P probably benign Het
Nceh1 C T 3: 27,295,462 (GRCm39) P241L probably damaging Het
Pcdh10 T A 3: 45,334,737 (GRCm39) D350E probably damaging Het
Pdgfrl A G 8: 41,438,571 (GRCm39) E169G probably damaging Het
Ppm1l T A 3: 69,225,283 (GRCm39) D128E probably damaging Het
Rasa1 A G 13: 85,436,548 (GRCm39) V160A probably benign Het
Serf2 T C 2: 121,288,184 (GRCm39) probably null Het
Slitrk1 T A 14: 109,149,269 (GRCm39) N481Y probably damaging Het
Tas2r139 T G 6: 42,118,055 (GRCm39) S62R probably damaging Het
Tdpoz4 A T 3: 93,704,380 (GRCm39) T226S probably benign Het
Tvp23b C A 11: 62,774,464 (GRCm39) A36E probably damaging Het
Upp2 G A 2: 58,680,076 (GRCm39) E301K probably benign Het
Other mutations in Pals1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Pals1 APN 12 78,876,573 (GRCm39) missense possibly damaging 0.89
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