Incidental Mutation 'IGL02668:Mpp6'
ID302803
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpp6
Ensembl Gene ENSMUSG00000038388
Gene Namemembrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)
SynonymsP55t, Pals2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02668
Quality Score
Status
Chromosome6
Chromosomal Location50110241-50198939 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 50194529 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 386 (T386I)
Ref Sequence ENSEMBL: ENSMUSP00000125880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036225] [ENSMUST00000036236] [ENSMUST00000165099] [ENSMUST00000166318] [ENSMUST00000204545]
Predicted Effect probably damaging
Transcript: ENSMUST00000036225
AA Change: T386I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038772
Gene: ENSMUSG00000038388
AA Change: T386I

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: T372I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039314
Gene: ENSMUSG00000038388
AA Change: T372I

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 benign
Transcript: ENSMUST00000165099
SMART Domains Protein: ENSMUSP00000130522
Gene: ENSMUSG00000029821

DomainStartEndE-ValueType
Pfam:Gasdermin 1 424 1.7e-136 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166318
AA Change: T386I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125880
Gene: ENSMUSG00000038388
AA Change: T386I

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 noncoding transcript
Transcript: ENSMUST00000167319
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204417
Predicted Effect probably damaging
Transcript: ENSMUST00000204545
AA Change: T372I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144737
Gene: ENSMUSG00000038388
AA Change: T372I

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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik A G 14: 35,810,117 M167T probably benign Het
Abcc4 G T 14: 118,611,475 S488R probably damaging Het
Adprm G T 11: 67,040,247 D230E possibly damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Casc1 G T 6: 145,205,257 R30S unknown Het
Ccdc66 T C 14: 27,497,341 K309E possibly damaging Het
Cyb561d2 C T 9: 107,540,172 A127T probably benign Het
Dctn1 T A 6: 83,191,048 M357K possibly damaging Het
Diras2 T C 13: 52,507,770 N167S probably benign Het
Dmgdh T G 13: 93,703,910 V283G probably damaging Het
Dmxl2 A T 9: 54,416,945 W1052R probably damaging Het
Dnah6 A T 6: 73,121,823 V2083D possibly damaging Het
Exoc4 T G 6: 33,921,532 F895L probably benign Het
Fsip1 G T 2: 118,251,725 A76E probably benign Het
Fsip2 A G 2: 82,998,318 I6820V probably benign Het
Hdac10 G A 15: 89,125,644 P395L probably benign Het
Ing3 A G 6: 21,950,059 D17G probably damaging Het
Map3k4 A T 17: 12,235,953 F1383L possibly damaging Het
Myct1 C A 10: 5,604,513 P127T probably damaging Het
Olfr593 A T 7: 103,212,735 I281F possibly damaging Het
Osbpl7 G T 11: 97,067,205 A625S possibly damaging Het
Padi2 C T 4: 140,949,880 R660C probably benign Het
Paip1 A T 13: 119,438,071 I185F probably damaging Het
Phykpl G A 11: 51,593,687 probably null Het
Plekhg6 G A 6: 125,372,803 probably benign Het
Plxna1 A T 6: 89,357,269 L126* probably null Het
Rchy1 A T 5: 91,962,718 M1K probably null Het
Rfx3 T C 19: 27,815,614 probably benign Het
Sdr9c7 T C 10: 127,902,398 F182L probably damaging Het
Sgpl1 A C 10: 61,105,450 V294G probably damaging Het
Sh2b1 A G 7: 126,472,474 S180P possibly damaging Het
Sorbs1 T C 19: 40,314,681 D488G probably damaging Het
Stab2 A G 10: 86,846,163 probably benign Het
Sycp1 A C 3: 102,820,531 probably benign Het
Tmem245 T C 4: 56,925,081 K347E possibly damaging Het
Tnk1 A G 11: 69,856,923 M51T probably damaging Het
Trpm2 C T 10: 77,935,942 R621H probably damaging Het
Ubd G T 17: 37,195,529 R102L probably benign Het
Uhrf1bp1 A C 17: 27,886,575 I692L possibly damaging Het
Vmn2r103 G T 17: 19,794,127 A394S probably benign Het
Zfp324 T A 7: 12,970,846 C321S probably damaging Het
Zfp488 G T 14: 33,970,820 Q129K probably benign Het
Zmpste24 T A 4: 121,061,100 N442Y probably 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
R1033:Mpp6 UTSW 6 50183736 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 splice site 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
R7629:Mpp6 UTSW 6 50196623 missense probably benign 0.07
R8159:Mpp6 UTSW 6 50194547 missense probably benign 0.00
X0027:Mpp6 UTSW 6 50163531 missense probably benign 0.42
Posted On2015-04-16