Incidental Mutation 'R1033:Mpp6'
ID95251
Institutional Source Beutler Lab
Gene Symbol Mpp6
Ensembl Gene ENSMUSG00000038388
Gene Namemembrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)
SynonymsP55t, Pals2
MMRRC Submission 039132-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.599) question?
Stock #R1033 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location50110241-50198939 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 50183736 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 326 (Y326H)
Ref Sequence ENSEMBL: ENSMUSP00000144737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036225] [ENSMUST00000036236] [ENSMUST00000166318] [ENSMUST00000167628] [ENSMUST00000204545]
Predicted Effect probably damaging
Transcript: ENSMUST00000036225
AA Change: Y340H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038772
Gene: ENSMUSG00000038388
AA Change: Y340H

DomainStartEndE-ValueType
L27 1 55 1.08e-9 SMART
L27 56 110 7.05e-14 SMART
PDZ 138 208 1.45e-11 SMART
SH3 231 296 7.52e-12 SMART
GuKc 350 541 8.92e-72 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000036236
AA Change: Y326H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039314
Gene: ENSMUSG00000038388
AA Change: Y326H

DomainStartEndE-ValueType
L27 1 55 1.08e-9 SMART
L27 56 110 7.05e-14 SMART
PDZ 138 208 1.45e-11 SMART
SH3 217 282 7.52e-12 SMART
GuKc 336 527 8.92e-72 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000166318
AA Change: Y340H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125880
Gene: ENSMUSG00000038388
AA Change: Y340H

DomainStartEndE-ValueType
L27 1 55 1.08e-9 SMART
L27 56 110 7.05e-14 SMART
PDZ 138 208 1.45e-11 SMART
SH3 231 296 7.52e-12 SMART
GuKc 350 541 8.92e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167063
Predicted Effect probably benign
Transcript: ENSMUST00000167628
SMART Domains Protein: ENSMUSP00000129355
Gene: ENSMUSG00000038388

DomainStartEndE-ValueType
L27 1 55 1.08e-9 SMART
L27 56 110 7.05e-14 SMART
PDZ 138 208 1.45e-11 SMART
SH3 231 296 7.52e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204545
AA Change: Y326H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144737
Gene: ENSMUSG00000038388
AA Change: Y326H

DomainStartEndE-ValueType
L27 1 55 1.08e-9 SMART
L27 56 110 7.05e-14 SMART
PDZ 138 208 1.45e-11 SMART
SH3 217 282 7.52e-12 SMART
GuKc 336 527 8.92e-72 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 91.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transmembrane, cytoskeletal, and cytoplasmic signaling proteins. All MAGUKs contain a PDZ-SH3-GUK core and are divided into 4 subfamilies, DLG-like (see DLG1; MIM 601014), ZO1-like (see TJP1; MIM 601009), p55-like (see MPP1; MIM 305360), and LIN2-like (see CASK; MIM 300172), based on their size and the presence of additional domains. MPP6 is a member of the p55-like MAGUK subfamily (Tseng et al., 2001 [PubMed 11311936]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik G A 1: 26,682,385 P1238L probably benign Het
Aasdh G A 5: 76,876,283 T174M probably damaging Het
Akap6 A C 12: 53,069,222 D1036A probably damaging Het
Alg6 T C 4: 99,762,033 S497P probably benign Het
Arhgap10 T A 8: 77,257,347 I700L possibly damaging Het
Atp11a A G 8: 12,828,555 Y377C probably damaging Het
Atp2b2 A T 6: 113,793,888 probably null Het
Card14 T A 11: 119,338,370 V702D probably damaging Het
Ccdc17 C T 4: 116,596,880 R32* probably null Het
Cdh7 A T 1: 110,085,053 D372V probably damaging Het
Cfap54 A T 10: 92,839,449 I2870N probably benign Het
Cped1 G T 6: 22,016,951 V100F probably damaging Het
Dapk1 T C 13: 60,721,865 probably null Het
Exoc4 G A 6: 33,265,987 G45D probably damaging Het
Fam110b A T 4: 5,799,440 N286I probably benign Het
Fbxo10 A T 4: 45,062,236 C97S probably damaging Het
Frem3 A T 8: 80,695,157 H2062L probably benign Het
Frk T C 10: 34,608,458 C476R probably damaging Het
Gm10471 T C 5: 26,089,127 K18E probably benign Het
Gm10542 A G 18: 44,204,601 T49A probably benign Het
Gm128 A G 3: 95,240,011 V324A possibly damaging Het
Gpr141 C T 13: 19,751,710 M298I probably benign Het
Gxylt1 T C 15: 93,245,077 E369G probably benign Het
Hpse2 A G 19: 42,913,199 V368A probably benign Het
Ice1 A T 13: 70,606,594 S458T probably damaging Het
Itgb7 T A 15: 102,223,554 D198V probably damaging Het
Kcnk10 A G 12: 98,518,670 V72A possibly damaging Het
Magel2 A G 7: 62,380,050 M901V unknown Het
Mgam A T 6: 40,680,624 Y971F probably benign Het
Mib2 C T 4: 155,659,460 G42S probably damaging Het
Mug1 A T 6: 121,880,551 D1078V probably damaging Het
Myom2 G A 8: 15,108,934 R870H probably benign Het
Nek8 A T 11: 78,171,285 L71Q probably null Het
Nox4 T A 7: 87,374,413 D502E probably damaging Het
Nsmaf G A 4: 6,438,054 P73S probably damaging Het
Nup205 C T 6: 35,227,442 A1421V probably benign Het
Nxpe4 T C 9: 48,393,233 F207L probably damaging Het
Olfr1043 A G 2: 86,162,850 I33T possibly damaging Het
Olfr1282 A T 2: 111,335,802 I92N probably damaging Het
Olfr410 A C 11: 74,334,636 N198K possibly damaging Het
Olfr59 A C 11: 74,288,666 T7P probably damaging Het
Prkdc T C 16: 15,767,951 L2451P probably damaging Het
Rad51ap2 C T 12: 11,456,251 S58F probably damaging Het
Rbbp8 A G 18: 11,742,705 R892G probably benign Het
Rock1 A G 18: 10,067,535 S1333P probably benign Het
Rpl7 A G 1: 16,102,504 I197T probably benign Het
Sar1a C A 10: 61,685,616 Q81K probably damaging Het
Shank1 A T 7: 44,356,796 H1979L possibly damaging Het
Slc10a2 C T 8: 5,104,889 V99M probably damaging Het
Slc22a30 G A 19: 8,335,801 Q436* probably null Het
Szt2 C T 4: 118,387,106 R1305H probably damaging Het
Ubash3a G A 17: 31,208,212 G32S probably damaging Het
Vmn1r200 G A 13: 22,395,890 D279N probably damaging Het
Zbtb8a T C 4: 129,354,221 D419G possibly damaging Het
Other mutations in Mpp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Mpp6 APN 6 50196589 missense probably benign 0.26
IGL00944:Mpp6 APN 6 50163456 missense possibly damaging 0.96
IGL01576:Mpp6 APN 6 50163492 missense probably benign 0.02
IGL01639:Mpp6 APN 6 50178480 missense probably damaging 0.99
IGL02541:Mpp6 APN 6 50183727 missense probably benign 0.40
IGL02668:Mpp6 APN 6 50194529 missense probably damaging 1.00
R1066:Mpp6 UTSW 6 50145867 missense possibly damaging 0.94
R1542:Mpp6 UTSW 6 50198326 missense probably damaging 1.00
R1799:Mpp6 UTSW 6 50196545 missense probably damaging 0.97
R1817:Mpp6 UTSW 6 50163431 missense probably benign 0.06
R1818:Mpp6 UTSW 6 50163431 missense probably benign 0.06
R4410:Mpp6 UTSW 6 50198268 nonsense probably null
R5162:Mpp6 UTSW 6 50178515 missense probably damaging 1.00
R5591:Mpp6 UTSW 6 50180179 missense probably benign 0.11
R6182:Mpp6 UTSW 6 50198226 missense probably benign
R6500:Mpp6 UTSW 6 50198166 missense possibly damaging 0.67
R6762:Mpp6 UTSW 6 50180438 intron probably null
R6888:Mpp6 UTSW 6 50180277 critical splice donor site probably null
R6963:Mpp6 UTSW 6 50163655 splice site probably null
R7002:Mpp6 UTSW 6 50162662 missense probably benign
X0027:Mpp6 UTSW 6 50163531 missense probably benign 0.42
Predicted Primers PCR Primer
(F):5'- TATCTGAGGGCAAACGATTGGGGAC -3'
(R):5'- TGGAAACTGAAGACTTACATGGCACCG -3'

Sequencing Primer
(F):5'- CGATTGGGGACAAGCATTTAAAG -3'
(R):5'- CGTTGTTCCAAATCTAGCAGG -3'
Posted On2014-01-05