Incidental Mutation 'IGL01393:Mpp3'
ID 79313
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpp3
Ensembl Gene ENSMUSG00000052373
Gene Name membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)
Synonyms Dlgh3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01393
Quality Score
Status
Chromosome 11
Chromosomal Location 101890478-101919287 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101916304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 16 (L16Q)
Ref Sequence ENSEMBL: ENSMUSP00000102786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062801] [ENSMUST00000100400] [ENSMUST00000107167] [ENSMUST00000107168]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000062801
AA Change: L16Q

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000055469
Gene: ENSMUSG00000052373
AA Change: L16Q

DomainStartEndE-ValueType
L27 10 64 1.5e-8 SMART
L27 68 121 1.18e-15 SMART
PDZ 145 218 1.06e-13 SMART
SH3 229 295 7.7e-9 SMART
GuKc 384 573 1.76e-70 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100400
AA Change: L16Q

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097969
Gene: ENSMUSG00000052373
AA Change: L16Q

DomainStartEndE-ValueType
L27 10 64 1.5e-8 SMART
L27 68 121 1.18e-15 SMART
PDZ 145 218 1.06e-13 SMART
SH3 229 295 7.7e-9 SMART
GuKc 384 573 1.76e-70 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107167
AA Change: L16Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102785
Gene: ENSMUSG00000052373
AA Change: L16Q

DomainStartEndE-ValueType
L27 10 64 1.5e-8 SMART
L27 68 121 1.18e-15 SMART
PDZ 145 215 5.86e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107168
AA Change: L16Q

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102786
Gene: ENSMUSG00000052373
AA Change: L16Q

DomainStartEndE-ValueType
L27 10 64 1.5e-8 SMART
L27 68 121 1.18e-15 SMART
PDZ 145 218 1.06e-13 SMART
SH3 229 295 7.7e-9 SMART
GuKc 384 573 1.76e-70 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132094
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141403
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156781
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147838
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155751
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product 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. This protein 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. Alternatively spliced transcript variants have been identified. One transcript variant is experimentally supported, but it doesn't encode a protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik G A 14: 35,818,379 (GRCm39) V126I possibly damaging Het
A630073D07Rik G T 6: 132,603,577 (GRCm39) Q60K unknown Het
Alpk2 A G 18: 65,440,779 (GRCm39) S205P possibly damaging Het
Ang4 T A 14: 52,001,670 (GRCm39) I93L probably benign Het
Arpin A G 7: 79,581,588 (GRCm39) V44A possibly damaging Het
Atxn3 A T 12: 101,899,306 (GRCm39) C263* probably null Het
Cd209f T C 8: 4,153,154 (GRCm39) N260S probably damaging Het
Cdh20 A G 1: 104,861,969 (GRCm39) R50G probably benign Het
Cracd T C 5: 77,006,818 (GRCm39) S1060P unknown Het
Csmd3 C T 15: 48,320,995 (GRCm39) V272I possibly damaging Het
Dst A T 1: 34,206,706 (GRCm39) Y1136F possibly damaging Het
Fam20c A G 5: 138,793,026 (GRCm39) Y420C probably damaging Het
Fancd2 T A 6: 113,554,321 (GRCm39) probably benign Het
Fat2 T C 11: 55,160,135 (GRCm39) D3326G probably benign Het
Filip1l A G 16: 57,392,586 (GRCm39) N820S probably damaging Het
Gm26566 G A 4: 88,640,581 (GRCm39) probably benign Het
Gm4792 A G 10: 94,134,304 (GRCm39) L22P unknown Het
Gpat2 A G 2: 127,274,571 (GRCm39) E386G probably damaging Het
Grm3 T C 5: 9,639,856 (GRCm39) D63G probably benign Het
Hdc A G 2: 126,436,581 (GRCm39) V430A probably benign Het
Hnf4a T C 2: 163,393,492 (GRCm39) probably benign Het
Il2ra A G 2: 11,687,865 (GRCm39) D215G probably damaging Het
Kctd3 T C 1: 188,732,487 (GRCm39) I74V probably benign Het
Kctd5 A T 17: 24,278,292 (GRCm39) probably null Het
Lrsam1 A T 2: 32,845,185 (GRCm39) probably benign Het
Mblac1 A G 5: 138,193,036 (GRCm39) N126S possibly damaging Het
Mmrn1 T A 6: 60,937,692 (GRCm39) probably benign Het
Mrgprb1 C A 7: 48,097,754 (GRCm39) A53S possibly damaging Het
Nbea C A 3: 55,912,729 (GRCm39) M1019I probably benign Het
Nlrp5 A G 7: 23,103,599 (GRCm39) K22R probably null Het
Or1j4 G A 2: 36,740,553 (GRCm39) R165Q probably benign Het
Or2ag18 C T 7: 106,405,642 (GRCm39) G9E probably benign Het
Or4k48 A G 2: 111,475,601 (GRCm39) V247A probably damaging Het
Pard6b T A 2: 167,929,298 (GRCm39) S35T probably benign Het
Peli1 T C 11: 21,097,400 (GRCm39) V215A probably benign Het
Pkp4 A T 2: 59,178,269 (GRCm39) D1003V probably damaging Het
Pot1a G A 6: 25,744,630 (GRCm39) R625* probably null Het
Ppp1r16a T C 15: 76,578,744 (GRCm39) S483P probably benign Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Prrg3 T C X: 71,011,123 (GRCm39) V210A probably benign Het
Rev1 A G 1: 38,131,144 (GRCm39) V168A probably damaging Het
Sez6l G T 5: 112,586,261 (GRCm39) probably benign Het
Spag17 A G 3: 99,934,926 (GRCm39) T711A possibly damaging Het
Spice1 A G 16: 44,186,993 (GRCm39) I163M probably benign Het
Tex13c1 C T X: 42,680,233 (GRCm39) A66V probably damaging Het
Tmem132d A T 5: 127,861,702 (GRCm39) S806R probably benign Het
Tnc A G 4: 63,932,291 (GRCm39) probably benign Het
Tpbg T A 9: 85,726,145 (GRCm39) V38E unknown Het
Unc13c T A 9: 73,447,552 (GRCm39) I1883F probably benign Het
Vmn2r61 A C 7: 41,916,258 (GRCm39) Q290H probably benign Het
Vps39 A G 2: 120,180,719 (GRCm39) probably benign Het
Zfp369 T C 13: 65,442,288 (GRCm39) V294A possibly damaging Het
Zfp821 T A 8: 110,436,110 (GRCm39) probably benign Het
Zfp941 C T 7: 140,391,841 (GRCm39) G506E probably damaging Het
Other mutations in Mpp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Mpp3 APN 11 101,892,929 (GRCm39) missense possibly damaging 0.76
IGL01337:Mpp3 APN 11 101,891,411 (GRCm39) missense probably benign
IGL01544:Mpp3 APN 11 101,909,485 (GRCm39) missense possibly damaging 0.91
IGL02152:Mpp3 APN 11 101,916,216 (GRCm39) nonsense probably null
IGL02441:Mpp3 APN 11 101,900,501 (GRCm39) missense probably benign 0.00
IGL02656:Mpp3 APN 11 101,899,427 (GRCm39) missense probably benign
R0013:Mpp3 UTSW 11 101,896,251 (GRCm39) missense probably benign 0.27
R0117:Mpp3 UTSW 11 101,891,399 (GRCm39) missense probably damaging 1.00
R0564:Mpp3 UTSW 11 101,896,173 (GRCm39) missense possibly damaging 0.87
R1372:Mpp3 UTSW 11 101,891,401 (GRCm39) missense probably damaging 0.96
R1531:Mpp3 UTSW 11 101,899,475 (GRCm39) missense probably benign
R1639:Mpp3 UTSW 11 101,914,268 (GRCm39) missense probably damaging 1.00
R1720:Mpp3 UTSW 11 101,916,582 (GRCm39) start codon destroyed possibly damaging 0.79
R1968:Mpp3 UTSW 11 101,909,378 (GRCm39) intron probably benign
R2064:Mpp3 UTSW 11 101,891,516 (GRCm39) missense probably benign 0.01
R2363:Mpp3 UTSW 11 101,911,312 (GRCm39) missense probably damaging 1.00
R3775:Mpp3 UTSW 11 101,914,193 (GRCm39) nonsense probably null
R3776:Mpp3 UTSW 11 101,914,193 (GRCm39) nonsense probably null
R4208:Mpp3 UTSW 11 101,891,426 (GRCm39) missense probably benign
R4287:Mpp3 UTSW 11 101,914,289 (GRCm39) missense probably damaging 1.00
R4327:Mpp3 UTSW 11 101,914,337 (GRCm39) intron probably benign
R4329:Mpp3 UTSW 11 101,914,337 (GRCm39) intron probably benign
R4367:Mpp3 UTSW 11 101,914,246 (GRCm39) missense probably benign 0.01
R4856:Mpp3 UTSW 11 101,915,962 (GRCm39) missense probably benign
R4886:Mpp3 UTSW 11 101,915,962 (GRCm39) missense probably benign
R4904:Mpp3 UTSW 11 101,891,413 (GRCm39) missense probably benign 0.01
R4946:Mpp3 UTSW 11 101,895,848 (GRCm39) missense probably benign 0.01
R5405:Mpp3 UTSW 11 101,901,047 (GRCm39) missense probably benign
R5935:Mpp3 UTSW 11 101,916,241 (GRCm39) missense probably damaging 1.00
R6020:Mpp3 UTSW 11 101,909,365 (GRCm39) intron probably benign
R6056:Mpp3 UTSW 11 101,902,515 (GRCm39) splice site probably null
R6151:Mpp3 UTSW 11 101,899,392 (GRCm39) missense probably benign 0.11
R6677:Mpp3 UTSW 11 101,899,444 (GRCm39) missense probably benign
R6784:Mpp3 UTSW 11 101,892,974 (GRCm39) critical splice acceptor site probably null
R6855:Mpp3 UTSW 11 101,904,151 (GRCm39) missense probably benign 0.09
R7227:Mpp3 UTSW 11 101,895,904 (GRCm39) missense possibly damaging 0.90
R7635:Mpp3 UTSW 11 101,916,209 (GRCm39) missense probably damaging 0.97
R7974:Mpp3 UTSW 11 101,899,180 (GRCm39) critical splice donor site probably null
R8330:Mpp3 UTSW 11 101,899,453 (GRCm39) missense probably benign 0.20
R8331:Mpp3 UTSW 11 101,902,541 (GRCm39) splice site probably null
R8993:Mpp3 UTSW 11 101,891,491 (GRCm39) missense probably benign 0.03
R9154:Mpp3 UTSW 11 101,911,328 (GRCm39) missense
R9593:Mpp3 UTSW 11 101,907,506 (GRCm39) missense possibly damaging 0.88
R9655:Mpp3 UTSW 11 101,899,481 (GRCm39) missense probably benign
Z1176:Mpp3 UTSW 11 101,899,182 (GRCm39) missense probably damaging 0.96
Posted On 2013-11-05