Incidental Mutation 'R1632:Pals1'
ID 172866
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 039669-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.545) question?
Stock # R1632 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 78795681-78887488 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 78843812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 5 (Y5*)
Ref Sequence ENSEMBL: ENSMUSP00000151349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082024] [ENSMUST00000219197] [ENSMUST00000219667]
AlphaFold Q9JLB2
Predicted Effect probably null
Transcript: ENSMUST00000082024
AA Change: Y5*
SMART Domains Protein: ENSMUSP00000080683
Gene: ENSMUSG00000021112
AA Change: Y5*

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 null
Transcript: ENSMUST00000219197
AA Change: Y5*
Predicted Effect probably benign
Transcript: ENSMUST00000219667
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.9%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Arhgap28 A T 17: 68,156,069 (GRCm39) Y696N probably damaging Het
Cachd1 A G 4: 100,824,169 (GRCm39) T537A probably benign Het
Capn15 A T 17: 26,179,639 (GRCm39) F841Y probably damaging Het
Card10 G A 15: 78,675,420 (GRCm39) R396* probably null Het
Chd9 A T 8: 91,683,335 (GRCm39) K592* probably null Het
Cyp2j8 T A 4: 96,335,561 (GRCm39) H411L probably benign Het
Dhcr24 G T 4: 106,443,148 (GRCm39) M394I probably benign Het
Dhrs3 T C 4: 144,620,116 (GRCm39) V11A probably benign Het
Dync1li2 A T 8: 105,164,123 (GRCm39) I134N probably damaging Het
Enpp4 G T 17: 44,410,544 (GRCm39) S344Y probably damaging Het
Ephb3 T C 16: 21,031,687 (GRCm39) S14P probably benign Het
Fancm T G 12: 65,177,105 (GRCm39) I1983S probably damaging Het
Fndc1 T C 17: 7,992,032 (GRCm39) T555A unknown Het
Gemin4 A T 11: 76,101,815 (GRCm39) M982K probably benign Het
Gtpbp2 A G 17: 46,479,518 (GRCm39) R590G probably benign Het
H2-M3 G A 17: 37,582,054 (GRCm39) R170H probably benign Het
Hoxa13 G T 6: 52,236,917 (GRCm39) N278K probably damaging Het
Hspb3 A G 13: 113,799,589 (GRCm39) V147A probably benign Het
Il6st G T 13: 112,640,866 (GRCm39) D820Y possibly damaging Het
Kdm7a A G 6: 39,129,832 (GRCm39) V448A probably benign Het
Kmt2b T C 7: 30,283,387 (GRCm39) D991G probably damaging Het
Kri1 T C 9: 21,193,507 (GRCm39) D140G possibly damaging Het
Limk2 A G 11: 3,296,250 (GRCm39) L399P probably damaging Het
Lrrc9 T A 12: 72,506,794 (GRCm39) probably null Het
Map2 C T 1: 66,454,245 (GRCm39) T1045M possibly damaging Het
Map4k5 T C 12: 69,874,821 (GRCm39) I321V probably benign Het
Minar1 T A 9: 89,484,413 (GRCm39) H328L probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myh7b A G 2: 155,462,445 (GRCm39) S383G probably benign Het
Nhsl3 A G 4: 129,116,459 (GRCm39) M735T possibly damaging Het
Nostrin A G 2: 69,006,078 (GRCm39) K254R probably benign Het
Nphp1 G T 2: 127,612,312 (GRCm39) P212T probably benign Het
Or5ak20 A T 2: 85,183,586 (GRCm39) M228K possibly damaging Het
Pclo A C 5: 14,730,017 (GRCm39) probably benign Het
Phf19 G A 2: 34,801,631 (GRCm39) R60W probably damaging Het
Pou2af2 T C 9: 51,201,702 (GRCm39) D118G probably damaging Het
Psg18 G A 7: 18,084,824 (GRCm39) P91S probably benign Het
Rttn C T 18: 89,027,460 (GRCm39) T525I probably benign Het
Ryr1 T C 7: 28,793,686 (GRCm39) M1268V probably benign Het
Slc25a2 T C 18: 37,770,740 (GRCm39) E263G possibly damaging Het
Slc32a1 C T 2: 158,455,810 (GRCm39) A155V possibly damaging Het
Slc6a19 A T 13: 73,838,027 (GRCm39) probably null Het
Socs4 A G 14: 47,527,034 (GRCm39) probably benign Het
Tas2r118 A G 6: 23,969,260 (GRCm39) I267T probably benign Het
Tpte G A 8: 22,839,363 (GRCm39) C470Y probably damaging Het
Usp17la A T 7: 104,510,118 (GRCm39) H241L probably benign Het
Vmn2r72 T A 7: 85,401,000 (GRCm39) I140F probably benign Het
Zfp329 T C 7: 12,544,876 (GRCm39) D216G possibly 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
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
Predicted Primers PCR Primer
(F):5'- AGATGGCTTGTGCTATGCACCAG -3'
(R):5'- TGTTGTCGAATCCGCTCTAACTGTG -3'

Sequencing Primer
(F):5'- TGAAAGGAGTGACCTTACTCTG -3'
(R):5'- TGCACTTCTTCGCACTGG -3'
Posted On 2014-04-24