Incidental Mutation 'R2277:Mpp2'
ID242858
Institutional Source Beutler Lab
Gene Symbol Mpp2
Ensembl Gene ENSMUSG00000017314
Gene Namemembrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)
SynonymsDlg2, Dlgh2, Pals4, D11Bwg0652e
MMRRC Submission 040276-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2277 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location102057015-102088515 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 102064301 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 166 (E166G)
Ref Sequence ENSEMBL: ENSMUSP00000097967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017458] [ENSMUST00000100398]
Predicted Effect probably damaging
Transcript: ENSMUST00000017458
AA Change: E149G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000017458
Gene: ENSMUSG00000017314
AA Change: E149G

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: E166G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097967
Gene: ENSMUSG00000017314
AA Change: E166G

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13d T C 19: 4,280,984 H165R probably benign Het
Arhgap21 T C 2: 20,863,226 I829V possibly damaging Het
Atxn1 T C 13: 45,557,068 N796S probably damaging Het
Bdp1 C A 13: 100,061,330 S849I probably benign Het
Bdp1 T A 13: 100,061,339 E846V probably damaging Het
Cdh4 C A 2: 179,797,524 H155N possibly damaging Het
Cela3a T C 4: 137,405,876 I62V possibly damaging Het
Cr2 T C 1: 195,157,368 R960G possibly damaging Het
Ddx42 T A 11: 106,242,939 D580E probably damaging Het
Dnah17 T C 11: 118,096,561 K1308E possibly damaging Het
Dnajc28 G A 16: 91,616,867 T187M probably damaging Het
Gh T C 11: 106,300,787 E143G probably damaging Het
Hcn3 C A 3: 89,147,861 R693L probably benign Het
Hdlbp G A 1: 93,408,178 R1199* probably null Het
Hook2 C T 8: 85,002,931 Q667* probably null Het
Ibtk T C 9: 85,703,151 I1147V probably benign Het
Itpk1 T C 12: 102,570,260 T376A probably benign Het
Lars C T 18: 42,235,502 V425I probably benign Het
Lgi4 T G 7: 31,060,612 L78V probably damaging Het
Madd A T 2: 91,143,683 C1419S possibly damaging Het
Mamld1 ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA X: 71,118,815 probably benign Het
Mrgprb5 A G 7: 48,168,831 L52P probably damaging Het
Nlrp2 T C 7: 5,328,129 T423A probably benign Het
Nphs1 T A 7: 30,467,564 L732* probably null Het
Pcdhb10 T C 18: 37,412,624 I251T possibly damaging Het
Plcg1 T A 2: 160,755,805 M789K possibly damaging Het
Pom121l2 T C 13: 21,984,247 I896T probably benign Het
Ptpn4 T C 1: 119,684,591 D24G probably damaging Het
Rbm28 T C 6: 29,135,514 probably null Het
Rbp3 C T 14: 33,956,018 T641M probably damaging Het
Rhebl1 A T 15: 98,878,286 D162E probably benign Het
Runx1t1 T C 4: 13,771,501 V15A probably benign Het
Serpina10 T A 12: 103,626,743 I291F probably benign Het
Slc23a2 A G 2: 132,091,259 I93T possibly damaging Het
Slc25a29 T C 12: 108,826,926 E242G probably benign Het
Sulf1 A C 1: 12,796,794 R67S probably benign Het
Syne2 A G 12: 75,927,466 E1146G possibly damaging Het
Tmem45a A T 16: 56,823,519 L89Q probably damaging Het
Top3a A C 11: 60,745,874 V655G possibly damaging Het
Ttc23l A G 15: 10,523,592 I347T possibly damaging Het
Other mutations in Mpp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Mpp2 APN 11 102063309 missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGTGCATGTGTGTATAGTATGTGTG -3'
(R):5'- GGAATCTGGTCTGGAAGCCA -3'

Sequencing Primer
(F):5'- GAGTGTGTGTCCATATTTATAGTGTG -3'
(R):5'- GCACTGGGCATTTCCACATTATC -3'
Posted On2014-10-16