Incidental Mutation 'IGL02668:Pals2'
ID 302803
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 # IGL02668
Quality Score
Status
Chromosome 6
Chromosomal Location 50087221-50175919 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 50171509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 386 (T386I)
Ref Sequence ENSEMBL: ENSMUSP00000125880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036225] [ENSMUST00000036236] [ENSMUST00000165099] [ENSMUST00000166318] [ENSMUST00000204545]
AlphaFold Q9JLB0
Predicted Effect probably damaging
Transcript: ENSMUST00000036225
AA Change: T386I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038772
Gene: ENSMUSG00000038388
AA Change: T386I

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 damaging
Transcript: ENSMUST00000036236
AA Change: T372I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039314
Gene: ENSMUSG00000038388
AA Change: T372I

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: ENSMUST00000165099
SMART Domains Protein: ENSMUSP00000130522
Gene: ENSMUSG00000029821

DomainStartEndE-ValueType
Pfam:Gasdermin 1 424 1.7e-136 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166318
AA Change: T386I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125880
Gene: ENSMUSG00000038388
AA Change: T386I

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 noncoding transcript
Transcript: ENSMUST00000167319
Predicted Effect probably damaging
Transcript: ENSMUST00000204545
AA Change: T372I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144737
Gene: ENSMUSG00000038388
AA Change: T372I

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: 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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik A G 14: 35,532,074 (GRCm39) M167T probably benign Het
Abcc4 G T 14: 118,848,887 (GRCm39) S488R probably damaging Het
Adprm G T 11: 66,931,073 (GRCm39) D230E possibly damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Bltp3a A C 17: 28,105,549 (GRCm39) I692L possibly damaging Het
Ccdc66 T C 14: 27,219,298 (GRCm39) K309E possibly damaging Het
Cyb561d2 C T 9: 107,417,371 (GRCm39) A127T probably benign Het
Dctn1 T A 6: 83,168,030 (GRCm39) M357K possibly damaging Het
Diras2 T C 13: 52,661,806 (GRCm39) N167S probably benign Het
Dmgdh T G 13: 93,840,418 (GRCm39) V283G probably damaging Het
Dmxl2 A T 9: 54,324,229 (GRCm39) W1052R probably damaging Het
Dnah6 A T 6: 73,098,806 (GRCm39) V2083D possibly damaging Het
Dnai7 G T 6: 145,150,983 (GRCm39) R30S unknown Het
Exoc4 T G 6: 33,898,467 (GRCm39) F895L probably benign Het
Fsip1 G T 2: 118,082,206 (GRCm39) A76E probably benign Het
Fsip2 A G 2: 82,828,662 (GRCm39) I6820V probably benign Het
Hdac10 G A 15: 89,009,847 (GRCm39) P395L probably benign Het
Ing3 A G 6: 21,950,058 (GRCm39) D17G probably damaging Het
Map3k4 A T 17: 12,454,840 (GRCm39) F1383L possibly damaging Het
Myct1 C A 10: 5,554,513 (GRCm39) P127T probably damaging Het
Or52s1 A T 7: 102,861,942 (GRCm39) I281F possibly damaging Het
Osbpl7 G T 11: 96,958,031 (GRCm39) A625S possibly damaging Het
Padi2 C T 4: 140,677,191 (GRCm39) R660C probably benign Het
Paip1 A T 13: 119,574,607 (GRCm39) I185F probably damaging Het
Phykpl G A 11: 51,484,514 (GRCm39) probably null Het
Plekhg6 G A 6: 125,349,766 (GRCm39) probably benign Het
Plxna1 A T 6: 89,334,251 (GRCm39) L126* probably null Het
Rchy1 A T 5: 92,110,577 (GRCm39) M1K probably null Het
Rfx3 T C 19: 27,793,014 (GRCm39) probably benign Het
Sdr9c7 T C 10: 127,738,267 (GRCm39) F182L probably damaging Het
Sgpl1 A C 10: 60,941,229 (GRCm39) V294G probably damaging Het
Sh2b1 A G 7: 126,071,646 (GRCm39) S180P possibly damaging Het
Sorbs1 T C 19: 40,303,125 (GRCm39) D488G probably damaging Het
Stab2 A G 10: 86,682,027 (GRCm39) probably benign Het
Sycp1 A C 3: 102,727,847 (GRCm39) probably benign Het
Tmem245 T C 4: 56,925,081 (GRCm39) K347E possibly damaging Het
Tnk1 A G 11: 69,747,749 (GRCm39) M51T probably damaging Het
Trpm2 C T 10: 77,771,776 (GRCm39) R621H probably damaging Het
Ubd G T 17: 37,506,420 (GRCm39) R102L probably benign Het
Vmn2r103 G T 17: 20,014,389 (GRCm39) A394S probably benign Het
Zfp324 T A 7: 12,704,773 (GRCm39) C321S probably damaging Het
Zfp488 G T 14: 33,692,777 (GRCm39) Q129K probably benign Het
Zmpste24 T A 4: 120,918,297 (GRCm39) N442Y probably damaging Het
Other mutations in Pals2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Pals2 APN 6 50,173,569 (GRCm39) missense probably benign 0.26
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
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 2015-04-16