Incidental Mutation 'R4719:Mpp2'
ID 354315
Institutional Source Beutler Lab
Gene Symbol Mpp2
Ensembl Gene ENSMUSG00000017314
Gene Name membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)
Synonyms Pals4, Dlgh2, D11Bwg0652e, Dlg2
MMRRC Submission 041957-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4719 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 101947841-101979341 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101955259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 122 (E122V)
Ref Sequence ENSEMBL: ENSMUSP00000097967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017458] [ENSMUST00000100398]
AlphaFold Q9WV34
Predicted Effect possibly damaging
Transcript: ENSMUST00000017458
AA Change: E105V

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000017458
Gene: ENSMUSG00000017314
AA Change: E105V

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 possibly damaging
Transcript: ENSMUST00000100398
AA Change: E122V

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097967
Gene: ENSMUSG00000017314
AA Change: E122V

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
Meta Mutation Damage Score 0.2248 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 99% (76/77)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,089,971 (GRCm39) Y971C probably damaging Het
Actr5 T A 2: 158,468,433 (GRCm39) S188T probably damaging Het
Adamtsl4 A G 3: 95,586,896 (GRCm39) probably null Het
Agbl2 A G 2: 90,645,733 (GRCm39) N822S probably benign Het
Ankdd1b T A 13: 96,554,255 (GRCm39) probably benign Het
Arhgef40 C T 14: 52,242,395 (GRCm39) probably benign Het
Art5 A G 7: 101,747,701 (GRCm39) probably null Het
Atpsckmt T G 15: 31,608,243 (GRCm39) V98G probably damaging Het
Cacna1s T C 1: 136,046,390 (GRCm39) probably benign Het
Car9 G A 4: 43,508,616 (GRCm39) W42* probably null Het
Cdh20 T C 1: 104,862,035 (GRCm39) Y72H probably damaging Het
Ces1g T C 8: 94,043,718 (GRCm39) D407G possibly damaging Het
Cngb3 T A 4: 19,309,562 (GRCm39) D73E probably benign Het
Col6a4 A T 9: 105,945,451 (GRCm39) F888I probably damaging Het
Dgat2 T C 7: 98,807,504 (GRCm39) D222G probably benign Het
Dscaml1 T C 9: 45,583,993 (GRCm39) M486T probably benign Het
Faim2 C T 15: 99,425,460 (GRCm39) probably null Het
Fance T C 17: 28,537,293 (GRCm39) probably benign Het
Fancm G T 12: 65,168,480 (GRCm39) M1614I possibly damaging Het
Fcrl5 A T 3: 87,351,496 (GRCm39) N248I probably damaging Het
Foxo3 G A 10: 42,073,774 (GRCm39) R29W probably damaging Het
Gabbr2 A G 4: 46,718,797 (GRCm39) Y74H probably damaging Het
Gatd1 A C 7: 140,990,981 (GRCm39) D55E probably benign Het
Gpr152 C A 19: 4,193,223 (GRCm39) Q255K possibly damaging Het
Havcr1 A G 11: 46,643,268 (GRCm39) T63A probably benign Het
Hltf T C 3: 20,118,865 (GRCm39) probably null Het
Ifit3b A T 19: 34,590,030 (GRCm39) Q402L probably damaging Het
Ints3 A G 3: 90,322,828 (GRCm39) L134S probably benign Het
Kcna10 A G 3: 107,102,217 (GRCm39) T283A probably benign Het
Kmt2e A C 5: 23,697,313 (GRCm39) R590S probably damaging Het
Lefty1 A T 1: 180,765,277 (GRCm39) N282Y probably benign Het
Loxl4 T A 19: 42,596,030 (GRCm39) Y141F probably benign Het
Lrrn2 T C 1: 132,866,915 (GRCm39) V660A probably benign Het
Lyst T C 13: 13,824,935 (GRCm39) S1517P probably benign Het
Mcoln2 A G 3: 145,881,468 (GRCm39) H208R probably benign Het
Mdga2 C T 12: 66,517,775 (GRCm39) probably benign Het
Mrgprb5 T C 7: 47,818,526 (GRCm39) N70D probably damaging Het
Muc5ac A T 7: 141,343,500 (GRCm39) E37D possibly damaging Het
Nbeal1 T A 1: 60,274,722 (GRCm39) probably null Het
Ncoa6 T C 2: 155,233,081 (GRCm39) probably benign Het
Nfib C A 4: 82,422,967 (GRCm39) probably null Het
Nostrin G T 2: 68,975,156 (GRCm39) G24* probably null Het
Nudc A G 4: 133,260,576 (GRCm39) Y293H probably damaging Het
Or51a42 T A 7: 103,707,940 (GRCm39) N290Y probably damaging Het
Pcmtd1 T A 1: 7,225,325 (GRCm39) Y41* probably null Het
Pigt T C 2: 164,343,544 (GRCm39) L340P probably damaging Het
Pomgnt1 T C 4: 116,012,972 (GRCm39) Y420H probably damaging Het
Pramel6 C T 2: 87,341,096 (GRCm39) T476I probably benign Het
Ptprn2 T A 12: 116,788,016 (GRCm39) H118Q possibly damaging Het
Rasl10a G A 11: 5,008,517 (GRCm39) S71N probably benign Het
Rnf213 A G 11: 119,310,893 (GRCm39) I804V probably benign Het
Rps4l-ps T C 7: 114,526,537 (GRCm39) noncoding transcript Het
Sash1 T A 10: 8,605,477 (GRCm39) H971L probably benign Het
Secisbp2 T A 13: 51,806,768 (GRCm39) F54L possibly damaging Het
Senp1 A T 15: 97,954,731 (GRCm39) H484Q probably benign Het
Slc12a1 T C 2: 124,995,913 (GRCm39) I22T possibly damaging Het
Slc25a36 A G 9: 96,972,172 (GRCm39) probably benign Het
Srcap T A 7: 127,140,731 (GRCm39) S1443T probably benign Het
Sv2c T C 13: 96,123,319 (GRCm39) T385A probably benign Het
Tas2r131 T A 6: 132,933,936 (GRCm39) H291L probably damaging Het
Thbs3 A G 3: 89,124,147 (GRCm39) D80G probably damaging Het
Tnxb C T 17: 34,908,394 (GRCm39) S1349L probably damaging Het
Toporsl A G 4: 52,611,996 (GRCm39) R630G probably benign Het
Vmn1r43 C A 6: 89,846,837 (GRCm39) M216I probably benign Het
Wdr17 T A 8: 55,092,911 (GRCm39) E1068D probably benign Het
Wnt10a G A 1: 74,842,762 (GRCm39) V413I probably damaging Het
Zfp141 T C 7: 42,126,111 (GRCm39) probably null Het
Zfp169 T C 13: 48,643,634 (GRCm39) I498V probably benign Het
Other mutations in Mpp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Mpp2 APN 11 101,954,135 (GRCm39) missense probably damaging 1.00
IGL01564:Mpp2 APN 11 101,952,345 (GRCm39) missense probably benign 0.01
IGL02158:Mpp2 APN 11 101,954,088 (GRCm39) missense probably benign 0.01
IGL02456:Mpp2 APN 11 101,950,199 (GRCm39) missense possibly damaging 0.72
IGL03271:Mpp2 APN 11 101,954,249 (GRCm39) splice site probably benign
R0488:Mpp2 UTSW 11 101,952,427 (GRCm39) missense possibly damaging 0.64
R0512:Mpp2 UTSW 11 101,953,116 (GRCm39) missense possibly damaging 0.64
R0960:Mpp2 UTSW 11 101,952,411 (GRCm39) missense possibly damaging 0.80
R1572:Mpp2 UTSW 11 101,951,374 (GRCm39) missense probably benign 0.07
R1740:Mpp2 UTSW 11 101,953,222 (GRCm39) splice site probably null
R1867:Mpp2 UTSW 11 101,955,493 (GRCm39) missense probably benign 0.09
R2133:Mpp2 UTSW 11 101,955,421 (GRCm39) missense probably benign 0.01
R2277:Mpp2 UTSW 11 101,955,127 (GRCm39) missense probably damaging 0.97
R2279:Mpp2 UTSW 11 101,955,127 (GRCm39) missense probably damaging 0.97
R2313:Mpp2 UTSW 11 101,952,898 (GRCm39) missense possibly damaging 0.77
R2882:Mpp2 UTSW 11 101,955,459 (GRCm39) missense probably benign 0.00
R3429:Mpp2 UTSW 11 101,976,141 (GRCm39) missense probably benign
R4959:Mpp2 UTSW 11 101,954,117 (GRCm39) missense probably damaging 1.00
R4968:Mpp2 UTSW 11 101,955,124 (GRCm39) missense probably benign 0.31
R5715:Mpp2 UTSW 11 101,953,087 (GRCm39) missense probably damaging 1.00
R5778:Mpp2 UTSW 11 101,955,269 (GRCm39) missense probably benign 0.06
R6034:Mpp2 UTSW 11 101,952,460 (GRCm39) missense possibly damaging 0.88
R6034:Mpp2 UTSW 11 101,952,460 (GRCm39) missense possibly damaging 0.88
R6045:Mpp2 UTSW 11 101,950,180 (GRCm39) missense probably benign 0.05
R6275:Mpp2 UTSW 11 101,951,795 (GRCm39) missense probably damaging 1.00
R6458:Mpp2 UTSW 11 101,971,595 (GRCm39) missense probably benign 0.01
R6884:Mpp2 UTSW 11 101,952,904 (GRCm39) missense probably benign 0.23
R6980:Mpp2 UTSW 11 101,950,154 (GRCm39) missense probably damaging 1.00
R7699:Mpp2 UTSW 11 101,950,261 (GRCm39) missense probably damaging 0.99
R8746:Mpp2 UTSW 11 101,954,040 (GRCm39) missense probably damaging 1.00
R8752:Mpp2 UTSW 11 101,976,129 (GRCm39) missense probably benign
R9031:Mpp2 UTSW 11 101,954,099 (GRCm39) missense probably benign
R9338:Mpp2 UTSW 11 101,951,249 (GRCm39) missense probably benign 0.10
R9503:Mpp2 UTSW 11 101,955,468 (GRCm39) missense probably benign 0.28
R9508:Mpp2 UTSW 11 101,951,692 (GRCm39) missense probably damaging 1.00
X0067:Mpp2 UTSW 11 101,955,211 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- CTCCTAAGTCCTGCAGGTACTC -3'
(R):5'- CTGGTGCAGGAAATCCTTCG -3'

Sequencing Primer
(F):5'- TAAGTCCTGCAGGTACTCCCTAGAG -3'
(R):5'- TTCGGGACCTGGCAGAG -3'
Posted On 2015-10-21