Incidental Mutation 'IGL00809:Pals2'
ID 12072
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pals2
Ensembl Gene ENSMUSG00000038388
Gene Name protein associated with LIN7 2, MAGUK family member
Synonyms P55t, Pals2, Mpp6
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00809
Quality Score
Status
Chromosome 6
Chromosomal Location 50087221-50175919 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 50173569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 478 (R478C)
Ref Sequence ENSEMBL: ENSMUSP00000125880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036225] [ENSMUST00000036236] [ENSMUST00000101405] [ENSMUST00000165099] [ENSMUST00000166318] [ENSMUST00000204545]
AlphaFold Q9JLB0
Predicted Effect probably benign
Transcript: ENSMUST00000036225
AA Change: R478C

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000038772
Gene: ENSMUSG00000038388
AA Change: R478C

DomainStartEndE-ValueType
L27 1 55 1.08e-9 SMART
L27 56 110 7.05e-14 SMART
PDZ 138 208 1.45e-11 SMART
SH3 231 296 7.52e-12 SMART
GuKc 350 541 8.92e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000036236
AA Change: R464C

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000039314
Gene: ENSMUSG00000038388
AA Change: R464C

DomainStartEndE-ValueType
L27 1 55 1.08e-9 SMART
L27 56 110 7.05e-14 SMART
PDZ 138 208 1.45e-11 SMART
SH3 217 282 7.52e-12 SMART
GuKc 336 527 8.92e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000101405
SMART Domains Protein: ENSMUSP00000098952
Gene: ENSMUSG00000029821

DomainStartEndE-ValueType
Pfam:Gasdermin 1 399 2e-126 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165099
SMART Domains Protein: ENSMUSP00000130522
Gene: ENSMUSG00000029821

DomainStartEndE-ValueType
Pfam:Gasdermin 1 424 1.7e-136 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166318
AA Change: R478C

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125880
Gene: ENSMUSG00000038388
AA Change: R478C

DomainStartEndE-ValueType
L27 1 55 1.08e-9 SMART
L27 56 110 7.05e-14 SMART
PDZ 138 208 1.45e-11 SMART
SH3 231 296 7.52e-12 SMART
GuKc 350 541 8.92e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167063
Predicted Effect probably benign
Transcript: ENSMUST00000204545
AA Change: R464C

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144737
Gene: ENSMUSG00000038388
AA Change: R464C

DomainStartEndE-ValueType
L27 1 55 1.08e-9 SMART
L27 56 110 7.05e-14 SMART
PDZ 138 208 1.45e-11 SMART
SH3 217 282 7.52e-12 SMART
GuKc 336 527 8.92e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167319
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204417
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transmembrane, cytoskeletal, and cytoplasmic signaling proteins. All MAGUKs contain a PDZ-SH3-GUK core and are divided into 4 subfamilies, DLG-like (see DLG1; MIM 601014), ZO1-like (see TJP1; MIM 601009), p55-like (see MPP1; MIM 305360), and LIN2-like (see CASK; MIM 300172), based on their size and the presence of additional domains. MPP6 is a member of the p55-like MAGUK subfamily (Tseng et al., 2001 [PubMed 11311936]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,092,983 (GRCm39) T113A possibly damaging Het
Akap10 T A 11: 61,805,897 (GRCm39) N277I possibly damaging Het
Ankrd24 A T 10: 81,478,901 (GRCm39) probably benign Het
Bfsp2 T C 9: 103,330,297 (GRCm39) E180G possibly damaging Het
Cd55 A T 1: 130,380,248 (GRCm39) Y243* probably null Het
Col17a1 G T 19: 47,669,842 (GRCm39) H103Q probably damaging Het
Diaph3 A T 14: 87,237,463 (GRCm39) H311Q probably damaging Het
Dnah1 G A 14: 31,022,766 (GRCm39) Q1124* probably null Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Fzr1 G T 10: 81,206,359 (GRCm39) S137* probably null Het
Gnl3 A G 14: 30,736,146 (GRCm39) I298T possibly damaging Het
Hnrnpa2b1 C T 6: 51,443,993 (GRCm39) G65S probably damaging Het
Hsd17b7 A T 1: 169,793,324 (GRCm39) Y88* probably null Het
Itga2 C A 13: 115,014,161 (GRCm39) A256S probably damaging Het
Itga7 T C 10: 128,775,038 (GRCm39) probably null Het
Ivl T A 3: 92,479,819 (GRCm39) Q82L possibly damaging Het
Lin28a C T 4: 133,735,367 (GRCm39) G90S probably damaging Het
Lkaaear1 A T 2: 181,339,127 (GRCm39) S108T probably benign Het
Mfsd11 T A 11: 116,750,177 (GRCm39) S105T probably damaging Het
Osbpl9 C T 4: 108,990,960 (GRCm39) R100H probably damaging Het
Pclo T A 5: 14,725,811 (GRCm39) D1556E unknown Het
Phip G A 9: 82,753,356 (GRCm39) S1796F probably damaging Het
Phtf1 T C 3: 103,895,983 (GRCm39) S226P probably benign Het
Rapgef6 C A 11: 54,540,126 (GRCm39) Q734K probably damaging Het
Scn9a A T 2: 66,314,279 (GRCm39) I1802N probably damaging Het
Slit2 G A 5: 48,146,493 (GRCm39) E95K possibly damaging Het
Stab2 A T 10: 86,684,038 (GRCm39) probably benign Het
Trpc7 T C 13: 56,970,301 (GRCm39) I373V probably benign Het
Ttbk2 T A 2: 120,590,750 (GRCm39) D303V probably damaging Het
Ylpm1 T C 12: 85,095,968 (GRCm39) I1163T probably damaging Het
Other mutations in Pals2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Pals2 APN 6 50,140,436 (GRCm39) missense possibly damaging 0.96
IGL01576:Pals2 APN 6 50,140,472 (GRCm39) missense probably benign 0.02
IGL01639:Pals2 APN 6 50,155,460 (GRCm39) missense probably damaging 0.99
IGL02541:Pals2 APN 6 50,160,707 (GRCm39) missense probably benign 0.40
IGL02668:Pals2 APN 6 50,171,509 (GRCm39) missense probably damaging 1.00
R1033:Pals2 UTSW 6 50,160,716 (GRCm39) missense probably damaging 1.00
R1066:Pals2 UTSW 6 50,122,847 (GRCm39) missense possibly damaging 0.94
R1542:Pals2 UTSW 6 50,175,306 (GRCm39) missense probably damaging 1.00
R1799:Pals2 UTSW 6 50,173,525 (GRCm39) missense probably damaging 0.97
R1817:Pals2 UTSW 6 50,140,411 (GRCm39) missense probably benign 0.06
R1818:Pals2 UTSW 6 50,140,411 (GRCm39) missense probably benign 0.06
R4410:Pals2 UTSW 6 50,175,248 (GRCm39) nonsense probably null
R5162:Pals2 UTSW 6 50,155,495 (GRCm39) missense probably damaging 1.00
R5591:Pals2 UTSW 6 50,157,159 (GRCm39) missense probably benign 0.11
R6182:Pals2 UTSW 6 50,175,206 (GRCm39) missense probably benign
R6500:Pals2 UTSW 6 50,175,146 (GRCm39) missense possibly damaging 0.67
R6762:Pals2 UTSW 6 50,157,418 (GRCm39) splice site probably null
R6888:Pals2 UTSW 6 50,157,257 (GRCm39) critical splice donor site probably null
R6963:Pals2 UTSW 6 50,140,635 (GRCm39) splice site probably null
R7002:Pals2 UTSW 6 50,139,642 (GRCm39) missense probably benign
R7629:Pals2 UTSW 6 50,173,603 (GRCm39) missense probably benign 0.07
R8159:Pals2 UTSW 6 50,171,527 (GRCm39) missense probably benign 0.00
R9190:Pals2 UTSW 6 50,157,219 (GRCm39) missense probably damaging 1.00
R9266:Pals2 UTSW 6 50,140,463 (GRCm39) missense probably benign 0.07
R9604:Pals2 UTSW 6 50,173,597 (GRCm39) missense probably benign 0.11
X0027:Pals2 UTSW 6 50,140,511 (GRCm39) missense probably benign 0.42
Posted On 2012-12-06