Incidental Mutation 'R5157:Pals1'
ID 396795
Institutional Source Beutler Lab
Gene Symbol Pals1
Ensembl Gene ENSMUSG00000021112
Gene Name protein associated with LIN7 1, MAGUK family member
Synonyms 3830420B02Rik, Pals1, Mpp5
MMRRC Submission 042739-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.545) question?
Stock # R5157 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 78795681-78887488 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78867589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 324 (M324K)
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: M324K

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000080683
Gene: ENSMUSG00000021112
AA Change: M324K

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 benign
Transcript: ENSMUST00000219197
Meta Mutation Damage Score 0.8733 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 100% (57/57)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C T 17: 24,627,096 (GRCm39) R1266C probably damaging Het
Adap2 T C 11: 80,047,772 (GRCm39) F76S probably damaging Het
Adgb T A 10: 10,274,710 (GRCm39) H747L probably damaging Het
Aox1 T A 1: 58,109,222 (GRCm39) V670D probably damaging Het
Ap4e1 A G 2: 126,903,615 (GRCm39) D839G probably benign Het
Arhgef11 T A 3: 87,635,817 (GRCm39) probably null Het
AY074887 T C 9: 54,858,102 (GRCm39) probably benign Het
Bicd1 C G 6: 149,421,912 (GRCm39) Q878E probably benign Het
Catspere1 A T 1: 177,707,348 (GRCm39) noncoding transcript Het
Cnmd T C 14: 79,894,126 (GRCm39) Q87R probably benign Het
Col24a1 G T 3: 145,051,712 (GRCm39) G661* probably null Het
Crtap G A 9: 114,213,860 (GRCm39) L232F probably damaging Het
Ctsq T C 13: 61,184,913 (GRCm39) T258A probably benign Het
Cyp2d26 T C 15: 82,675,190 (GRCm39) Q388R probably benign Het
Ddb1 A T 19: 10,599,728 (GRCm39) T646S probably benign Het
Dnah6 G T 6: 73,172,617 (GRCm39) S280R probably benign Het
Dzank1 T C 2: 144,325,332 (GRCm39) H545R probably damaging Het
Ehhadh T A 16: 21,585,261 (GRCm39) M207L probably benign Het
Elmo2 T A 2: 165,133,627 (GRCm39) probably benign Het
Golga3 G A 5: 110,350,537 (GRCm39) A731T probably benign Het
Igsf21 T C 4: 139,755,378 (GRCm39) T426A possibly damaging Het
Kcnf1 T C 12: 17,224,742 (GRCm39) E493G probably benign Het
Lmna A T 3: 88,391,414 (GRCm39) D364E probably damaging Het
Lsr T C 7: 30,665,465 (GRCm39) Y163C probably damaging Het
Map3k20 A T 2: 72,268,558 (GRCm39) T522S probably benign Het
Mroh9 C A 1: 162,871,690 (GRCm39) A598S probably damaging Het
Msln T C 17: 25,971,957 (GRCm39) M87V probably benign Het
Or14c39 A G 7: 86,344,440 (GRCm39) K259E probably benign Het
Or1e26 T C 11: 73,480,549 (GRCm39) N5S probably damaging Het
Or4a27 T A 2: 88,559,892 (GRCm39) Q17L probably benign Het
Or5d16 T A 2: 87,773,232 (GRCm39) M247L probably benign Het
Plekhg5 T A 4: 152,192,322 (GRCm39) probably benign Het
Pprc1 G T 19: 46,053,197 (GRCm39) probably benign Het
Ptprm T A 17: 67,264,092 (GRCm39) K385I probably benign Het
Rfxap T A 3: 54,711,938 (GRCm39) N215I probably damaging Het
Slc16a7 A T 10: 125,069,333 (GRCm39) Y114* probably null Het
Smarcb1 G T 10: 75,747,628 (GRCm39) probably benign Het
Spef2 T A 15: 9,668,877 (GRCm39) R770* probably null Het
Stard9 A T 2: 120,528,342 (GRCm39) Y1533F probably benign Het
Tbcd A T 11: 121,500,853 (GRCm39) Y1142F probably benign Het
Trappc2b A T 11: 51,576,893 (GRCm39) S2T probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Uba7 G A 9: 107,857,246 (GRCm39) V703I probably benign Het
Upb1 T C 10: 75,248,638 (GRCm39) S53P possibly damaging Het
Zfp672 A G 11: 58,207,677 (GRCm39) S215P possibly damaging Het
Zfp978 T A 4: 147,475,437 (GRCm39) L328H probably damaging Het
Other mutations in Pals1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Pals1 APN 12 78,876,573 (GRCm39) missense possibly damaging 0.89
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
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
Predicted Primers PCR Primer
(F):5'- ACTGGGCAGGAATTATGAATCTAGC -3'
(R):5'- CAACACTGTTAGTCTGAAGTTGAAC -3'

Sequencing Primer
(F):5'- GCAGGAATTATGAATCTAGCTGCAC -3'
(R):5'- ACGTGATTTCTGTTTTTACTTGAAC -3'
Posted On 2016-06-21