Incidental Mutation 'IGL01564:Mpp2'
ID90936
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpp2
Ensembl Gene ENSMUSG00000017314
Gene Namemembrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)
SynonymsDlg2, Dlgh2, Pals4, D11Bwg0652e
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01564
Quality Score
Status
Chromosome11
Chromosomal Location102057015-102088515 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 102061519 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 393 (D393G)
Ref Sequence ENSEMBL: ENSMUSP00000097967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017458] [ENSMUST00000100398]
Predicted Effect probably benign
Transcript: ENSMUST00000017458
AA Change: D376G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000017458
Gene: ENSMUSG00000017314
AA Change: D376G

DomainStartEndE-ValueType
L27 11 66 1.19e-11 SMART
L27 67 121 2.46e-13 SMART
PDZ 149 219 1.89e-10 SMART
SH3 228 292 9.77e-11 SMART
GuKc 349 540 6.55e-79 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100398
AA Change: D393G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000097967
Gene: ENSMUSG00000017314
AA Change: D393G

DomainStartEndE-ValueType
low complexity region 6 24 N/A INTRINSIC
L27 28 83 1.19e-11 SMART
L27 84 138 2.46e-13 SMART
PDZ 166 236 1.89e-10 SMART
SH3 245 309 9.77e-11 SMART
GuKc 366 557 6.55e-79 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127522
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147126
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Palmitoylated membrane protein 2 is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. Palmitoylated membrane protein 2 contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat3 T A 10: 80,606,859 M177K probably damaging Het
Ankrd28 G T 14: 31,755,767 T48K probably damaging Het
BC005561 A T 5: 104,520,663 Y1017F probably benign Het
Capn3 T C 2: 120,480,708 I112T probably damaging Het
Clec3a T A 8: 114,425,542 I96N probably damaging Het
Clic4 C T 4: 135,217,193 A224T probably damaging Het
Eif2b3 T C 4: 117,028,542 Y94H probably benign Het
Ep300 A T 15: 81,632,464 probably benign Het
Errfi1 C A 4: 150,867,030 T305N probably damaging Het
Fam131c T A 4: 141,379,673 probably null Het
Fbxo11 G A 17: 88,002,896 T494I probably benign Het
Homer2 T C 7: 81,618,572 probably null Het
Hpf1 C A 8: 60,890,479 probably benign Het
Hspa1b T C 17: 34,957,549 N487D probably benign Het
Ikbke C A 1: 131,257,921 A617S probably benign Het
Jade1 G T 3: 41,596,649 R174S possibly damaging Het
Lcmt1 T C 7: 123,404,440 F139S probably benign Het
Lipo2 T C 19: 33,721,024 T318A probably benign Het
Lrp1b C T 2: 40,677,486 probably benign Het
Lsm14a T C 7: 34,389,355 probably benign Het
Nfyb T C 10: 82,752,426 Y137C probably damaging Het
Olfr1161 A T 2: 88,025,304 H194L probably benign Het
Olfr1510 T C 14: 52,410,842 D10G probably benign Het
Olfr476 T C 7: 107,967,991 I198T probably benign Het
Scn3a A C 2: 65,461,446 I1652S probably damaging Het
Slc33a1 C T 3: 63,943,347 V519I probably benign Het
Strada G T 11: 106,173,292 N66K probably damaging Het
Tlr1 T A 5: 64,925,846 I463F probably damaging Het
Tnfrsf19 G T 14: 60,974,609 F197L possibly damaging Het
Tph1 T A 7: 46,650,881 probably benign Het
Ttn A T 2: 76,816,578 L3287H probably damaging Het
Vmn2r18 A T 5: 151,585,168 S164T possibly damaging Het
Zan C T 5: 137,446,733 V1755I unknown Het
Zmym4 T C 4: 126,911,280 I396V possibly damaging Het
Other mutations in Mpp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Mpp2 APN 11 102063309 missense probably damaging 1.00
IGL02158:Mpp2 APN 11 102063262 missense probably benign 0.01
IGL02456:Mpp2 APN 11 102059373 missense possibly damaging 0.72
IGL03271:Mpp2 APN 11 102063423 splice site probably benign
R0488:Mpp2 UTSW 11 102061601 missense possibly damaging 0.64
R0512:Mpp2 UTSW 11 102062290 missense possibly damaging 0.64
R0960:Mpp2 UTSW 11 102061585 missense possibly damaging 0.80
R1572:Mpp2 UTSW 11 102060548 missense probably benign 0.07
R1740:Mpp2 UTSW 11 102062396 splice site probably null
R1867:Mpp2 UTSW 11 102064667 missense probably benign 0.09
R2133:Mpp2 UTSW 11 102064595 missense probably benign 0.01
R2277:Mpp2 UTSW 11 102064301 missense probably damaging 0.97
R2279:Mpp2 UTSW 11 102064301 missense probably damaging 0.97
R2313:Mpp2 UTSW 11 102062072 missense possibly damaging 0.77
R2882:Mpp2 UTSW 11 102064633 missense probably benign 0.00
R3429:Mpp2 UTSW 11 102085315 missense probably benign
R4719:Mpp2 UTSW 11 102064433 missense possibly damaging 0.93
R4959:Mpp2 UTSW 11 102063291 missense probably damaging 1.00
R4968:Mpp2 UTSW 11 102064298 missense probably benign 0.31
R5715:Mpp2 UTSW 11 102062261 missense probably damaging 1.00
R5778:Mpp2 UTSW 11 102064443 missense probably benign 0.06
R6034:Mpp2 UTSW 11 102061634 missense possibly damaging 0.88
R6034:Mpp2 UTSW 11 102061634 missense possibly damaging 0.88
R6045:Mpp2 UTSW 11 102059354 missense probably benign 0.05
R6275:Mpp2 UTSW 11 102060969 missense probably damaging 1.00
R6458:Mpp2 UTSW 11 102080769 missense probably benign 0.01
R6884:Mpp2 UTSW 11 102062078 missense probably benign 0.23
R6980:Mpp2 UTSW 11 102059328 missense probably damaging 1.00
R7699:Mpp2 UTSW 11 102059435 missense probably damaging 0.99
R8746:Mpp2 UTSW 11 102063214 missense probably damaging 1.00
R8752:Mpp2 UTSW 11 102085303 missense probably benign
X0067:Mpp2 UTSW 11 102064385 missense probably benign 0.44
Posted On2013-12-09