Incidental Mutation 'R0040:Mpp7'
ID 15441
Institutional Source Beutler Lab
Gene Symbol Mpp7
Ensembl Gene ENSMUSG00000057440
Gene Name membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)
Synonyms 2810038M04Rik, LOC381166, 1110068J02Rik, 5430426E14Rik
MMRRC Submission 038334-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.158) question?
Stock # R0040 (G1)
Quality Score
Status Validated
Chromosome 18
Chromosomal Location 7347962-7626863 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 7403180 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000111535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115869]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000115869
SMART Domains Protein: ENSMUSP00000111535
Gene: ENSMUSG00000057440

DomainStartEndE-ValueType
L27 10 68 7.05e-14 SMART
L27 72 125 3.72e-13 SMART
PDZ 147 220 3.8e-15 SMART
SH3 231 297 1.4e-11 SMART
low complexity region 317 328 N/A INTRINSIC
GuKc 367 563 4.01e-65 SMART
Coding Region Coverage
  • 1x: 84.2%
  • 3x: 77.3%
  • 10x: 61.4%
  • 20x: 43.8%
Validation Efficiency 96% (74/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T G 6: 121,645,206 L356R possibly damaging Het
Antxr2 G A 5: 97,938,425 T441I possibly damaging Het
Apcs A G 1: 172,894,456 Y108H probably benign Het
Arpp21 T C 9: 112,147,409 probably benign Het
Atcay C T 10: 81,210,519 probably null Het
Bahcc1 A G 11: 120,268,370 D141G probably damaging Het
Cacng5 A T 11: 107,884,510 L11Q probably damaging Het
Ccdc73 T C 2: 104,992,084 S793P probably damaging Het
Ceacam10 A G 7: 24,778,264 Y68C probably damaging Het
Csmd3 G A 15: 47,633,816 P3062S probably damaging Het
Dctn4 A G 18: 60,544,042 N145D possibly damaging Het
Dusp12 A G 1: 170,880,657 Y164H probably damaging Het
Fat1 A G 8: 45,026,404 D2829G probably damaging Het
Fbxl13 T C 5: 21,486,373 T671A probably damaging Het
Fndc3b T A 3: 27,556,117 probably null Het
Gprc6a T A 10: 51,614,984 K819* probably null Het
Gucy2g T A 19: 55,217,302 T709S possibly damaging Het
Gxylt1 A T 15: 93,254,555 probably benign Het
Idh2 A G 7: 80,097,822 S317P probably damaging Het
Ifi30 T C 8: 70,763,776 probably null Het
Ifna16 G A 4: 88,676,630 A76V probably benign Het
Itpr2 C T 6: 146,345,140 E1127K probably damaging Het
Kank4 A G 4: 98,779,220 V330A probably benign Het
Kri1 T C 9: 21,281,105 Y131C probably damaging Het
Krt71 T A 15: 101,738,433 H280L possibly damaging Het
Lox A T 18: 52,520,826 H399Q possibly damaging Het
Mapt A G 11: 104,305,398 M446V probably damaging Het
Mycbp2 A G 14: 103,224,272 V1447A probably benign Het
Myl3 A C 9: 110,767,929 D119A probably damaging Het
Myo1b A T 1: 51,781,989 I451N probably damaging Het
Nubp1 A G 16: 10,421,117 T199A probably damaging Het
Olfml2b A G 1: 170,668,751 H317R probably benign Het
Pard3b A T 1: 62,637,820 Y1170F probably damaging Het
Pear1 T C 3: 87,754,358 D536G probably damaging Het
Pira6 A G 7: 4,281,483 noncoding transcript Het
Pkhd1l1 T A 15: 44,573,625 Y3460N probably damaging Het
Plxna2 G T 1: 194,643,896 R46L probably benign Het
Rnf168 T A 16: 32,278,173 probably null Het
Rpl14 C G 9: 120,572,101 F3L possibly damaging Het
Scara5 C T 14: 65,762,717 probably benign Het
Sh3rf1 T A 8: 61,329,252 Y143N possibly damaging Het
Slc4a8 T A 15: 100,789,846 I288N probably damaging Het
Synpr G A 14: 13,563,024 A86T probably damaging Het
Ttc38 C A 15: 85,841,489 F184L probably damaging Het
Wdpcp A G 11: 21,711,638 I303M probably damaging Het
Zc3h12d G A 10: 7,867,914 A483T probably benign Het
Zfp106 C A 2: 120,531,613 K1008N probably damaging Het
Zfp68 G A 5: 138,607,779 T94I probably benign Het
Zfp867 C T 11: 59,463,865 A213T possibly damaging Het
Zkscan3 A T 13: 21,394,920 probably null Het
Other mutations in Mpp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00938:Mpp7 APN 18 7353297 missense probably benign 0.00
IGL01575:Mpp7 APN 18 7403365 splice site probably benign
IGL02973:Mpp7 APN 18 7403297 missense probably damaging 1.00
IGL02985:Mpp7 APN 18 7461637 critical splice donor site probably null
IGL03224:Mpp7 APN 18 7403269 missense probably benign 0.28
IGL03248:Mpp7 APN 18 7403269 missense probably benign 0.28
R0089:Mpp7 UTSW 18 7439555 splice site probably benign
R1413:Mpp7 UTSW 18 7350977 missense probably damaging 1.00
R1634:Mpp7 UTSW 18 7350984 missense possibly damaging 0.63
R1859:Mpp7 UTSW 18 7350967 makesense probably null
R2379:Mpp7 UTSW 18 7403345 nonsense probably null
R2869:Mpp7 UTSW 18 7461678 missense possibly damaging 0.76
R2869:Mpp7 UTSW 18 7461678 missense possibly damaging 0.76
R2871:Mpp7 UTSW 18 7461678 missense possibly damaging 0.76
R2871:Mpp7 UTSW 18 7461678 missense possibly damaging 0.76
R3008:Mpp7 UTSW 18 7461678 missense possibly damaging 0.76
R3009:Mpp7 UTSW 18 7461678 missense possibly damaging 0.76
R3010:Mpp7 UTSW 18 7461678 missense possibly damaging 0.76
R3782:Mpp7 UTSW 18 7351085 missense probably damaging 0.99
R3980:Mpp7 UTSW 18 7444062 missense probably benign 0.23
R4574:Mpp7 UTSW 18 7353228 missense probably benign 0.02
R4772:Mpp7 UTSW 18 7379983 splice site probably null
R5066:Mpp7 UTSW 18 7513002 missense possibly damaging 0.95
R5437:Mpp7 UTSW 18 7458930 critical splice donor site probably null
R5451:Mpp7 UTSW 18 7442855 missense probably null 0.95
R5578:Mpp7 UTSW 18 7355101 missense probably benign
R5651:Mpp7 UTSW 18 7355016 critical splice donor site probably null
R5787:Mpp7 UTSW 18 7461682 missense probably benign
R6979:Mpp7 UTSW 18 7355049 missense possibly damaging 0.64
R6984:Mpp7 UTSW 18 7441623 missense probably damaging 1.00
R7448:Mpp7 UTSW 18 7351079 missense probably damaging 0.98
R7517:Mpp7 UTSW 18 7440183 nonsense probably null
R8278:Mpp7 UTSW 18 7444025 missense probably benign
R8373:Mpp7 UTSW 18 7444096 missense probably damaging 1.00
R8676:Mpp7 UTSW 18 7440430 critical splice donor site probably null
R9206:Mpp7 UTSW 18 7403327 missense probably benign 0.12
R9208:Mpp7 UTSW 18 7403327 missense probably benign 0.12
R9439:Mpp7 UTSW 18 7461692 nonsense probably null
R9790:Mpp7 UTSW 18 7355049 missense probably benign 0.07
R9791:Mpp7 UTSW 18 7355049 missense probably benign 0.07
X0028:Mpp7 UTSW 18 7403273 missense probably benign 0.04
Z1177:Mpp7 UTSW 18 7355062 missense probably damaging 0.99
Posted On 2012-12-21