Incidental Mutation 'IGL01367:Mpp2'
ID75970
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 #IGL01367
Quality Score
Status
Chromosome11
Chromosomal Location102057015-102088515 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 102063309 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 187 (E187G)
Ref Sequence ENSEMBL: ENSMUSP00000017458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017458] [ENSMUST00000100398]
Predicted Effect probably damaging
Transcript: ENSMUST00000017458
AA Change: E187G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017458
Gene: ENSMUSG00000017314
AA Change: E187G

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 damaging
Transcript: ENSMUST00000100398
AA Change: E204G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097967
Gene: ENSMUSG00000017314
AA Change: E204G

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik A G 11: 30,454,843 V20A possibly damaging Het
Alk T C 17: 71,900,786 I985V probably damaging Het
Anapc2 A C 2: 25,274,782 R59S possibly damaging Het
Ankhd1 T A 18: 36,578,643 D165E probably benign Het
Asb8 A T 15: 98,136,173 V167D probably damaging Het
Atp5j A G 16: 84,828,472 M81T probably benign Het
Bcl7b A G 5: 135,180,096 T138A probably damaging Het
Cdh23 A G 10: 60,310,787 L2869P probably damaging Het
Chl1 T C 6: 103,729,225 S1174P probably benign Het
Clec2g T C 6: 128,948,736 I36T unknown Het
Denr A G 5: 123,908,119 D4G probably benign Het
Dnajc10 T C 2: 80,324,752 probably benign Het
Egf C T 3: 129,702,455 probably null Het
Galnt10 A C 11: 57,725,583 Y108S probably damaging Het
Gls C T 1: 52,168,399 G602D probably damaging Het
Grb10 G T 11: 11,945,599 Q242K probably damaging Het
Hspg2 A T 4: 137,538,489 Y1837F probably damaging Het
Ikzf1 G T 11: 11,748,358 A70S probably benign Het
Il17ra T C 6: 120,481,465 Y526H probably damaging Het
Il34 A T 8: 110,742,743 I186N possibly damaging Het
Iqca G A 1: 90,070,628 probably benign Het
Kntc1 A G 5: 123,758,483 Y136C probably damaging Het
Man2b2 A T 5: 36,814,337 Y257* probably null Het
Map3k19 A G 1: 127,824,351 F421S possibly damaging Het
Melk A G 4: 44,332,907 T288A possibly damaging Het
Mtf2 A G 5: 108,104,457 T394A probably benign Het
Neil2 A G 14: 63,191,728 S39P probably damaging Het
Olfr1507 T A 14: 52,490,167 I266F probably benign Het
Pcdh7 A G 5: 58,129,224 E1214G possibly damaging Het
Pcdhb17 G T 18: 37,487,495 Q779H probably benign Het
Pik3c2b A G 1: 133,105,988 I1577V probably benign Het
Pkp3 C T 7: 141,084,076 P389S probably damaging Het
Ppp4r2 T A 6: 100,864,745 Y92* probably null Het
Rnf13 T C 3: 57,807,087 I189T probably benign Het
Serpinf2 T C 11: 75,438,045 D53G probably benign Het
Slc47a2 T A 11: 61,329,781 T184S probably benign Het
Sned1 T C 1: 93,283,214 I1008T probably benign Het
Sorcs3 A T 19: 48,796,375 E1079V probably damaging Het
Trappc8 G A 18: 20,866,119 S318L probably benign Het
Trappc9 A G 15: 72,590,153 S909P probably benign Het
Ttn G A 2: 76,730,139 T29306I probably damaging Het
Twnk G A 19: 45,011,651 R602Q possibly damaging Het
Vmn2r15 A T 5: 109,293,209 I261K probably damaging Het
Vmn2r77 G A 7: 86,811,916 A817T probably damaging Het
Other mutations in Mpp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01564:Mpp2 APN 11 102061519 missense probably benign 0.01
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
X0067:Mpp2 UTSW 11 102064385 missense probably benign 0.44
Posted On2013-10-07