Incidental Mutation 'IGL00809:Mpp6'
ID12072
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpp6
Ensembl Gene ENSMUSG00000038388
Gene Namemembrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)
SynonymsP55t, Pals2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00809
Quality Score
Status
Chromosome6
Chromosomal Location50110241-50198939 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 50196589 bp
ZygosityHeterozygous
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]
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 noncoding transcript
Transcript: ENSMUST00000167319
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204417
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
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: 103,235,786 T113A possibly damaging Het
Akap10 T A 11: 61,915,071 N277I possibly damaging Het
Ankrd24 A T 10: 81,643,067 probably benign Het
Bfsp2 T C 9: 103,453,098 E180G possibly damaging Het
Cd55 A T 1: 130,452,511 Y243* probably null Het
Col17a1 G T 19: 47,681,403 H103Q probably damaging Het
Diaph3 A T 14: 87,000,027 H311Q probably damaging Het
Dnah1 G A 14: 31,300,809 Q1124* probably null Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Fzr1 G T 10: 81,370,525 S137* probably null Het
Gnl3 A G 14: 31,014,189 I298T possibly damaging Het
Hnrnpa2b1 C T 6: 51,467,013 G65S probably damaging Het
Hsd17b7 A T 1: 169,965,755 Y88* probably null Het
Itga2 C A 13: 114,877,625 A256S probably damaging Het
Itga7 T C 10: 128,939,169 probably null Het
Ivl T A 3: 92,572,512 Q82L possibly damaging Het
Lin28a C T 4: 134,008,056 G90S probably damaging Het
Lkaaear1 A T 2: 181,697,334 S108T probably benign Het
Mfsd11 T A 11: 116,859,351 S105T probably damaging Het
Osbpl9 C T 4: 109,133,763 R100H probably damaging Het
Pclo T A 5: 14,675,797 D1556E unknown Het
Phip G A 9: 82,871,303 S1796F probably damaging Het
Phtf1 T C 3: 103,988,667 S226P probably benign Het
Rapgef6 C A 11: 54,649,300 Q734K probably damaging Het
Scn9a A T 2: 66,483,935 I1802N probably damaging Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Stab2 A T 10: 86,848,174 probably benign Het
Trpc7 T C 13: 56,822,488 I373V probably benign Het
Ttbk2 T A 2: 120,760,269 D303V probably damaging Het
Ylpm1 T C 12: 85,049,194 I1163T probably damaging Het
Other mutations in Mpp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Mpp6 APN 6 50163456 missense possibly damaging 0.96
IGL01576:Mpp6 APN 6 50163492 missense probably benign 0.02
IGL01639:Mpp6 APN 6 50178480 missense probably damaging 0.99
IGL02541:Mpp6 APN 6 50183727 missense probably benign 0.40
IGL02668:Mpp6 APN 6 50194529 missense probably damaging 1.00
R1033:Mpp6 UTSW 6 50183736 missense probably damaging 1.00
R1066:Mpp6 UTSW 6 50145867 missense possibly damaging 0.94
R1542:Mpp6 UTSW 6 50198326 missense probably damaging 1.00
R1799:Mpp6 UTSW 6 50196545 missense probably damaging 0.97
R1817:Mpp6 UTSW 6 50163431 missense probably benign 0.06
R1818:Mpp6 UTSW 6 50163431 missense probably benign 0.06
R4410:Mpp6 UTSW 6 50198268 nonsense probably null
R5162:Mpp6 UTSW 6 50178515 missense probably damaging 1.00
R5591:Mpp6 UTSW 6 50180179 missense probably benign 0.11
R6182:Mpp6 UTSW 6 50198226 missense probably benign
R6500:Mpp6 UTSW 6 50198166 missense possibly damaging 0.67
R6762:Mpp6 UTSW 6 50180438 splice site probably null
R6888:Mpp6 UTSW 6 50180277 critical splice donor site probably null
R6963:Mpp6 UTSW 6 50163655 splice site probably null
R7002:Mpp6 UTSW 6 50162662 missense probably benign
R7629:Mpp6 UTSW 6 50196623 missense probably benign 0.07
R8159:Mpp6 UTSW 6 50194547 missense probably benign 0.00
X0027:Mpp6 UTSW 6 50163531 missense probably benign 0.42
Posted On2012-12-06