Incidental Mutation 'IGL00863:Mpp5'
ID12068
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpp5
Ensembl Gene ENSMUSG00000021112
Gene Namemembrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)
SynonymsPals1, 3830420B02Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.690) question?
Stock #IGL00863
Quality Score
Status
Chromosome12
Chromosomal Location78748907-78840714 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78809821 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 146 (D146G)
Ref Sequence ENSEMBL: ENSMUSP00000151349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082024] [ENSMUST00000219197] [ENSMUST00000219667]
Predicted Effect possibly damaging
Transcript: ENSMUST00000082024
AA Change: D146G

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000080683
Gene: ENSMUSG00000021112
AA Change: D146G

DomainStartEndE-ValueType
coiled coil region 54 76 N/A INTRINSIC
L27 123 180 2.04e-10 SMART
L27 186 238 7.39e-8 SMART
PDZ 265 336 5.99e-13 SMART
SH3 348 416 1.2e-10 SMART
low complexity region 439 454 N/A INTRINSIC
GuKc 478 663 1.72e-64 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000219197
AA Change: D146G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000219667
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 encodes a member of the p55-like subfamily of the membrane-associated guanylate kinase (MAGUK) gene superfamily. The encoded protein participates in the polarization of differentiating cells, has been shown to regulate myelinating Schwann cells (PMID: 20237282), and is one of the components of the Crumbs complex in the retina. Mice which express lower levels of the orthologous protein have retinal degeneration and impaired vision (PMID: 22114289). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a floxed allele activated in cortical neuron exhibit loss of cortex neurons due to premature differentiation and increased apoptosis. These mice also exhibit behavioral defects but are otherwise viable and fertile. Heterozygous mice exhibit an intermediate phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011I03Rik A T 18: 57,594,086 E136V probably damaging Het
Bsn A G 9: 108,115,322 I1077T probably damaging Het
Car8 A G 4: 8,183,251 probably null Het
Ccny A T 18: 9,345,444 D143E probably benign Het
Cdh19 A G 1: 110,949,144 V155A probably damaging Het
Cript T A 17: 87,027,723 I14N probably damaging Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Eef1b2 G A 1: 63,178,506 G91R probably damaging Het
Fam49a A T 12: 12,359,234 I72F probably benign Het
Fbln5 A G 12: 101,809,916 V60A probably damaging Het
Fbn1 T A 2: 125,403,219 E249D possibly damaging Het
G6pc G T 11: 101,370,723 R83L probably damaging Het
Grik2 A G 10: 49,355,928 V502A possibly damaging Het
Heatr1 T C 13: 12,435,128 V2001A probably benign Het
Il4i1 T A 7: 44,838,046 Y148* probably null Het
Jmjd4 T C 11: 59,450,743 S113P probably benign Het
Nceh1 C T 3: 27,241,313 P241L probably damaging Het
Pcdh10 T A 3: 45,380,302 D350E probably damaging Het
Pdgfrl A G 8: 40,985,534 E169G probably damaging Het
Ppm1l T A 3: 69,317,950 D128E probably damaging Het
Rasa1 A G 13: 85,288,429 V160A probably benign Het
Serf2 T C 2: 121,457,703 probably null Het
Slitrk1 T A 14: 108,911,837 N481Y probably damaging Het
Tas2r139 T G 6: 42,141,121 S62R probably damaging Het
Tdpoz4 A T 3: 93,797,073 T226S probably benign Het
Tvp23b C A 11: 62,883,638 A36E probably damaging Het
Upp2 G A 2: 58,790,064 E301K probably benign Het
Other mutations in Mpp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Mpp5 APN 12 78829799 missense possibly damaging 0.89
IGL01860:Mpp5 APN 12 78830907 missense possibly damaging 0.79
R1584:Mpp5 UTSW 12 78829727 missense probably benign 0.34
R1632:Mpp5 UTSW 12 78797038 nonsense probably null
R2117:Mpp5 UTSW 12 78809922 missense possibly damaging 0.81
R2186:Mpp5 UTSW 12 78819371 splice site probably benign
R2211:Mpp5 UTSW 12 78797248 missense possibly damaging 0.78
R4044:Mpp5 UTSW 12 78824839 missense probably benign 0.06
R4224:Mpp5 UTSW 12 78829718 missense probably damaging 1.00
R4535:Mpp5 UTSW 12 78824837 missense possibly damaging 0.90
R5157:Mpp5 UTSW 12 78820815 missense possibly damaging 0.95
R6144:Mpp5 UTSW 12 78824789 missense possibly damaging 0.75
R6180:Mpp5 UTSW 12 78817310 missense probably benign 0.11
R7037:Mpp5 UTSW 12 78797199 missense probably damaging 1.00
R7216:Mpp5 UTSW 12 78797232 missense probably damaging 0.99
Posted On2012-12-06