Incidental Mutation 'R1589:Mpdz'
ID 177705
Institutional Source Beutler Lab
Gene Symbol Mpdz
Ensembl Gene ENSMUSG00000028402
Gene Name multiple PDZ domain crumbs cell polarity complex component
Synonyms MUPP1, B930003D11Rik, multiple PDZ domain protein
MMRRC Submission 039626-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1589 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 81196737-81361052 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81339413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 5 (I5L)
Ref Sequence ENSEMBL: ENSMUSP00000102883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102830] [ENSMUST00000107258] [ENSMUST00000107262] [ENSMUST00000220807]
AlphaFold Q8VBX6
Predicted Effect probably benign
Transcript: ENSMUST00000102830
AA Change: I5L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099894
Gene: ENSMUSG00000028402
AA Change: I5L

DomainStartEndE-ValueType
L27 6 66 9.04e-3 SMART
PDZ 147 225 3.03e-23 SMART
PDZ 266 338 8.92e-21 SMART
low complexity region 345 360 N/A INTRINSIC
PDZ 386 464 6.07e-23 SMART
PDZ 556 627 7.31e-17 SMART
PDZ 701 780 9.94e-19 SMART
PDZ 1004 1080 3.44e-13 SMART
low complexity region 1111 1126 N/A INTRINSIC
PDZ 1148 1231 2.43e-22 SMART
low complexity region 1233 1251 N/A INTRINSIC
PDZ 1346 1421 3.41e-17 SMART
low complexity region 1434 1445 N/A INTRINSIC
low complexity region 1454 1468 N/A INTRINSIC
PDZ 1479 1552 2.69e-15 SMART
PDZ 1622 1697 3.2e-22 SMART
PDZ 1719 1792 3.62e-21 SMART
low complexity region 1798 1815 N/A INTRINSIC
PDZ 1856 1933 9.79e-18 SMART
PDZ 1980 2055 2.39e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107258
AA Change: I5L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102879
Gene: ENSMUSG00000028402
AA Change: I5L

DomainStartEndE-ValueType
PDZ 1 73 3.42e-8 SMART
low complexity region 104 119 N/A INTRINSIC
PDZ 141 224 2.43e-22 SMART
PDZ 306 381 3.41e-17 SMART
low complexity region 394 405 N/A INTRINSIC
low complexity region 414 428 N/A INTRINSIC
PDZ 439 512 2.69e-15 SMART
PDZ 582 657 3.2e-22 SMART
PDZ 679 752 3.62e-21 SMART
low complexity region 758 775 N/A INTRINSIC
PDZ 816 893 9.79e-18 SMART
PDZ 940 1015 2.39e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107262
AA Change: I5L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102883
Gene: ENSMUSG00000028402
AA Change: I5L

DomainStartEndE-ValueType
L27 6 66 9.04e-3 SMART
PDZ 147 225 3.03e-23 SMART
PDZ 266 338 8.92e-21 SMART
low complexity region 345 360 N/A INTRINSIC
PDZ 386 464 6.07e-23 SMART
PDZ 556 627 7.31e-17 SMART
PDZ 701 780 9.94e-19 SMART
PDZ 1004 1080 3.44e-13 SMART
low complexity region 1112 1127 N/A INTRINSIC
PDZ 1149 1232 2.43e-22 SMART
low complexity region 1234 1252 N/A INTRINSIC
PDZ 1347 1422 3.41e-17 SMART
low complexity region 1435 1446 N/A INTRINSIC
low complexity region 1455 1469 N/A INTRINSIC
PDZ 1480 1553 2.69e-15 SMART
PDZ 1623 1698 3.2e-22 SMART
PDZ 1720 1793 3.62e-21 SMART
low complexity region 1799 1816 N/A INTRINSIC
PDZ 1857 1934 9.79e-18 SMART
PDZ 1981 2056 2.39e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142273
Predicted Effect probably benign
Transcript: ENSMUST00000220807
AA Change: I5L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.8%
Validation Efficiency 97% (89/92)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has multiple PDZ domains, which are hallmarks of protein-protein interactions. The encoded protein is known to interact with the HTR2C receptor and may cause it to clump at the cell surface. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mutant heterozygous mice are more sensitive to ethanol withdrawal effects and consume less alcohol than controls. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008P02Rik A G 3: 6,685,501 (GRCm39) probably benign Het
Aadacl2 C T 3: 59,917,997 (GRCm39) T82I probably benign Het
Acadl T C 1: 66,892,382 (GRCm39) N147S probably benign Het
Actr3 A T 1: 125,336,300 (GRCm39) M79K probably damaging Het
Agbl3 A G 6: 34,834,452 (GRCm39) S874G possibly damaging Het
Aoah A T 13: 21,187,118 (GRCm39) T472S probably damaging Het
Asb16 A T 11: 102,159,821 (GRCm39) D58V probably damaging Het
B4galt1 T C 4: 40,823,575 (GRCm39) D172G probably benign Het
Bax T C 7: 45,114,671 (GRCm39) N55S possibly damaging Het
Bdkrb2 A G 12: 105,558,118 (GRCm39) N120D possibly damaging Het
Bicdl1 T C 5: 115,789,325 (GRCm39) probably benign Het
Cand1 A G 10: 119,049,471 (GRCm39) L425P probably damaging Het
Caskin1 G A 17: 24,724,452 (GRCm39) probably null Het
Cd248 C T 19: 5,119,960 (GRCm39) P603S probably benign Het
Cep95 G T 11: 106,690,930 (GRCm39) R143L probably benign Het
Clptm1l G T 13: 73,762,792 (GRCm39) probably null Het
Cntnap5a T C 1: 115,987,930 (GRCm39) F154L possibly damaging Het
Cyld A T 8: 89,436,618 (GRCm39) I303F possibly damaging Het
Dock2 A G 11: 34,597,288 (GRCm39) S370P probably damaging Het
Enah G T 1: 181,749,858 (GRCm39) T327K probably damaging Het
Farp2 A T 1: 93,507,582 (GRCm39) S427C probably damaging Het
Fbxw11 C T 11: 32,683,612 (GRCm39) T301M probably damaging Het
Foxc2 A T 8: 121,843,915 (GRCm39) T188S probably benign Het
Fzd2 A G 11: 102,497,154 (GRCm39) T533A probably benign Het
Glb1l2 G T 9: 26,680,334 (GRCm39) S248* probably null Het
Glul A T 1: 153,781,284 (GRCm39) probably benign Het
Gm28042 A G 2: 119,871,887 (GRCm39) T946A probably benign Het
Golga3 T A 5: 110,329,649 (GRCm39) D2E probably damaging Het
Grm1 A T 10: 10,595,711 (GRCm39) F639Y probably benign Het
Gzmn A G 14: 56,403,368 (GRCm39) L247P probably benign Het
Hgf T G 5: 16,818,783 (GRCm39) I525R probably damaging Het
Hnrnpul2 T A 19: 8,808,696 (GRCm39) D719E probably benign Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Itga9 T C 9: 118,436,185 (GRCm39) probably null Het
Itgb1 T A 8: 129,431,939 (GRCm39) C16S probably damaging Het
Itgb1 G T 8: 129,431,940 (GRCm39) C16F possibly damaging Het
Kat14 A G 2: 144,236,020 (GRCm39) I251V probably benign Het
Kdsr A T 1: 106,662,271 (GRCm39) probably null Het
Kif12 T A 4: 63,084,737 (GRCm39) E527V probably benign Het
Larp1b T C 3: 40,987,909 (GRCm39) S44P probably damaging Het
Lonp2 T C 8: 87,399,700 (GRCm39) probably benign Het
Lrp1 C T 10: 127,441,475 (GRCm39) S216N probably benign Het
Lrrc19 T C 4: 94,529,187 (GRCm39) S32G probably benign Het
Mdm2 G A 10: 117,526,434 (GRCm39) T335M probably benign Het
Mettl25 A G 10: 105,615,493 (GRCm39) Y504H probably damaging Het
Mill1 T C 7: 17,979,572 (GRCm39) I13T probably benign Het
Mmachc T A 4: 116,560,721 (GRCm39) Q258L probably benign Het
Mrps2 C T 2: 28,359,500 (GRCm39) A119V probably benign Het
Mtcl2 A T 2: 156,869,557 (GRCm39) M1026K probably benign Het
Mtmr11 A G 3: 96,075,429 (GRCm39) T370A probably benign Het
Nmi T C 2: 51,848,989 (GRCm39) I34V possibly damaging Het
Obscn A T 11: 58,926,901 (GRCm39) M5538K possibly damaging Het
Ogdhl T C 14: 32,047,822 (GRCm39) I24T probably benign Het
Omp G T 7: 97,794,566 (GRCm39) D20E probably benign Het
Or2ag19 A G 7: 106,444,403 (GRCm39) Y195C possibly damaging Het
Or52e8b A G 7: 104,673,767 (GRCm39) V140A probably benign Het
Or5b120 C T 19: 13,480,121 (GRCm39) T138M probably benign Het
Or6c69 A G 10: 129,747,550 (GRCm39) V199A probably benign Het
Otog A G 7: 45,933,332 (GRCm39) H1291R probably benign Het
Pgbd1 A G 13: 21,607,462 (GRCm39) L244P probably damaging Het
Ranbp2 A G 10: 58,299,808 (GRCm39) I481V probably benign Het
Rbp3 A T 14: 33,677,749 (GRCm39) I566F probably damaging Het
Rsph4a A G 10: 33,781,525 (GRCm39) D125G probably benign Het
Scn11a A G 9: 119,598,873 (GRCm39) V1219A probably damaging Het
Serpine3 G A 14: 62,911,830 (GRCm39) G264D probably benign Het
Slc4a10 T C 2: 62,087,806 (GRCm39) F400L probably damaging Het
Slco1a4 C T 6: 141,791,173 (GRCm39) V8I probably benign Het
Spen T C 4: 141,215,335 (GRCm39) D499G unknown Het
Stk32c A G 7: 138,698,931 (GRCm39) probably null Het
Tars1 A G 15: 11,388,261 (GRCm39) V485A probably benign Het
Tcerg1l A G 7: 137,963,496 (GRCm39) L258P probably damaging Het
Tmc2 A T 2: 130,089,880 (GRCm39) I622F probably damaging Het
Tmem183a A T 1: 134,282,444 (GRCm39) N220K probably damaging Het
Tnni3 T C 7: 4,523,525 (GRCm39) D146G probably damaging Het
Trappc11 G T 8: 47,954,715 (GRCm39) D908E probably damaging Het
Trappc8 A G 18: 20,996,608 (GRCm39) Y436H probably damaging Het
Ttc41 G A 10: 86,612,254 (GRCm39) V1176I probably benign Het
Ube2b A G 11: 51,888,699 (GRCm39) V24A probably benign Het
Usp30 T C 5: 114,251,022 (GRCm39) C233R probably damaging Het
Vmn1r87 T A 7: 12,865,703 (GRCm39) T195S possibly damaging Het
Vmn2r24 T C 6: 123,783,479 (GRCm39) probably benign Het
Vmn2r81 C A 10: 79,128,858 (GRCm39) T583N probably damaging Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Wdr1 C A 5: 38,687,315 (GRCm39) V239L probably benign Het
Wdr17 C T 8: 55,156,942 (GRCm39) probably benign Het
Zfhx4 A C 3: 5,306,789 (GRCm39) D5A probably damaging Het
Zfyve27 T C 19: 42,160,184 (GRCm39) probably null Het
Other mutations in Mpdz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Mpdz APN 4 81,228,461 (GRCm39) nonsense probably null
IGL00325:Mpdz APN 4 81,235,868 (GRCm39) missense probably damaging 1.00
IGL00497:Mpdz APN 4 81,253,979 (GRCm39) missense probably benign 0.30
IGL00502:Mpdz APN 4 81,287,960 (GRCm39) missense probably damaging 1.00
IGL00539:Mpdz APN 4 81,279,588 (GRCm39) missense possibly damaging 0.83
IGL00938:Mpdz APN 4 81,210,749 (GRCm39) missense probably damaging 1.00
IGL00990:Mpdz APN 4 81,221,821 (GRCm39) splice site probably benign
IGL01394:Mpdz APN 4 81,210,728 (GRCm39) missense possibly damaging 0.92
IGL01537:Mpdz APN 4 81,287,895 (GRCm39) missense probably damaging 0.98
IGL01558:Mpdz APN 4 81,213,767 (GRCm39) nonsense probably null
IGL01561:Mpdz APN 4 81,202,851 (GRCm39) missense probably damaging 1.00
IGL01649:Mpdz APN 4 81,221,870 (GRCm39) missense probably damaging 0.98
IGL01743:Mpdz APN 4 81,235,919 (GRCm39) missense probably damaging 1.00
IGL01941:Mpdz APN 4 81,204,624 (GRCm39) missense possibly damaging 0.91
IGL01969:Mpdz APN 4 81,276,961 (GRCm39) missense probably damaging 0.98
IGL02023:Mpdz APN 4 81,247,766 (GRCm39) missense probably damaging 0.99
IGL02081:Mpdz APN 4 81,254,106 (GRCm39) missense probably damaging 1.00
IGL02304:Mpdz APN 4 81,215,796 (GRCm39) splice site probably benign
IGL02304:Mpdz APN 4 81,228,394 (GRCm39) missense possibly damaging 0.78
IGL02410:Mpdz APN 4 81,215,730 (GRCm39) missense probably benign 0.13
IGL02449:Mpdz APN 4 81,247,659 (GRCm39) splice site probably null
IGL02671:Mpdz APN 4 81,208,510 (GRCm39) missense probably damaging 1.00
IGL02708:Mpdz APN 4 81,202,808 (GRCm39) splice site probably null
IGL02718:Mpdz APN 4 81,303,439 (GRCm39) missense probably damaging 1.00
IGL03065:Mpdz APN 4 81,210,802 (GRCm39) missense probably damaging 0.98
IGL03378:Mpdz APN 4 81,337,285 (GRCm39) splice site probably benign
PIT4458001:Mpdz UTSW 4 81,337,263 (GRCm39) missense probably damaging 1.00
R0108:Mpdz UTSW 4 81,300,042 (GRCm39) missense probably damaging 1.00
R0108:Mpdz UTSW 4 81,300,042 (GRCm39) missense probably damaging 1.00
R0119:Mpdz UTSW 4 81,210,768 (GRCm39) missense probably benign 0.44
R0402:Mpdz UTSW 4 81,279,677 (GRCm39) missense possibly damaging 0.51
R0499:Mpdz UTSW 4 81,210,768 (GRCm39) missense probably benign 0.44
R0718:Mpdz UTSW 4 81,210,710 (GRCm39) missense possibly damaging 0.79
R0844:Mpdz UTSW 4 81,339,431 (GRCm39) start gained probably benign
R0883:Mpdz UTSW 4 81,278,228 (GRCm39) splice site probably benign
R0885:Mpdz UTSW 4 81,287,829 (GRCm39) missense probably benign 0.04
R1344:Mpdz UTSW 4 81,226,556 (GRCm39) missense probably benign 0.01
R1432:Mpdz UTSW 4 81,210,788 (GRCm39) missense probably damaging 1.00
R1488:Mpdz UTSW 4 81,266,945 (GRCm39) nonsense probably null
R1756:Mpdz UTSW 4 81,225,114 (GRCm39) missense possibly damaging 0.87
R1940:Mpdz UTSW 4 81,279,680 (GRCm39) missense probably benign 0.01
R2068:Mpdz UTSW 4 81,254,067 (GRCm39) missense probably null 1.00
R2182:Mpdz UTSW 4 81,266,959 (GRCm39) missense probably damaging 1.00
R2213:Mpdz UTSW 4 81,228,409 (GRCm39) missense probably damaging 0.99
R2265:Mpdz UTSW 4 81,301,628 (GRCm39) missense probably damaging 1.00
R2268:Mpdz UTSW 4 81,301,628 (GRCm39) missense probably damaging 1.00
R2269:Mpdz UTSW 4 81,301,628 (GRCm39) missense probably damaging 1.00
R3082:Mpdz UTSW 4 81,203,695 (GRCm39) splice site probably benign
R3746:Mpdz UTSW 4 81,281,384 (GRCm39) missense probably damaging 1.00
R3902:Mpdz UTSW 4 81,225,353 (GRCm39) missense probably damaging 1.00
R4095:Mpdz UTSW 4 81,302,060 (GRCm39) missense possibly damaging 0.77
R4097:Mpdz UTSW 4 81,253,937 (GRCm39) missense probably damaging 1.00
R4206:Mpdz UTSW 4 81,299,999 (GRCm39) missense probably benign 0.13
R4675:Mpdz UTSW 4 81,302,049 (GRCm39) missense probably damaging 0.98
R4884:Mpdz UTSW 4 81,279,713 (GRCm39) missense probably damaging 0.97
R5044:Mpdz UTSW 4 81,299,934 (GRCm39) missense probably benign 0.16
R5050:Mpdz UTSW 4 81,213,685 (GRCm39) missense probably benign 0.00
R5243:Mpdz UTSW 4 81,225,116 (GRCm39) missense probably damaging 1.00
R5332:Mpdz UTSW 4 81,210,817 (GRCm39) missense probably damaging 1.00
R5435:Mpdz UTSW 4 81,201,724 (GRCm39) intron probably benign
R5720:Mpdz UTSW 4 81,205,931 (GRCm39) missense probably damaging 0.99
R5743:Mpdz UTSW 4 81,339,425 (GRCm39) start codon destroyed probably null 0.30
R5764:Mpdz UTSW 4 81,274,683 (GRCm39) missense probably benign 0.13
R5876:Mpdz UTSW 4 81,203,711 (GRCm39) nonsense probably null
R5938:Mpdz UTSW 4 81,202,851 (GRCm39) missense probably damaging 1.00
R5988:Mpdz UTSW 4 81,202,812 (GRCm39) critical splice donor site probably null
R6125:Mpdz UTSW 4 81,215,764 (GRCm39) missense probably benign 0.00
R6178:Mpdz UTSW 4 81,226,602 (GRCm39) missense probably damaging 1.00
R6235:Mpdz UTSW 4 81,303,518 (GRCm39) missense probably damaging 1.00
R6293:Mpdz UTSW 4 81,278,293 (GRCm39) missense probably damaging 1.00
R6387:Mpdz UTSW 4 81,299,946 (GRCm39) missense possibly damaging 0.69
R6488:Mpdz UTSW 4 81,205,970 (GRCm39) missense probably benign 0.11
R6536:Mpdz UTSW 4 81,301,654 (GRCm39) missense probably damaging 1.00
R6673:Mpdz UTSW 4 81,274,667 (GRCm39) missense probably benign 0.11
R6879:Mpdz UTSW 4 81,266,893 (GRCm39) missense possibly damaging 0.81
R7180:Mpdz UTSW 4 81,253,988 (GRCm39) missense probably damaging 0.98
R7199:Mpdz UTSW 4 81,215,570 (GRCm39) missense probably damaging 0.98
R7209:Mpdz UTSW 4 81,225,114 (GRCm39) missense possibly damaging 0.87
R7309:Mpdz UTSW 4 81,300,195 (GRCm39) splice site probably null
R7359:Mpdz UTSW 4 81,274,632 (GRCm39) missense probably benign 0.01
R7561:Mpdz UTSW 4 81,225,388 (GRCm39) missense probably damaging 0.99
R7565:Mpdz UTSW 4 81,221,891 (GRCm39) missense probably benign 0.01
R7738:Mpdz UTSW 4 81,253,986 (GRCm39) missense probably benign 0.01
R7941:Mpdz UTSW 4 81,200,987 (GRCm39) missense probably benign 0.04
R8074:Mpdz UTSW 4 81,267,324 (GRCm39) missense probably benign 0.00
R8957:Mpdz UTSW 4 81,251,216 (GRCm39) nonsense probably null
R8998:Mpdz UTSW 4 81,202,882 (GRCm39) nonsense probably null
R8999:Mpdz UTSW 4 81,202,882 (GRCm39) nonsense probably null
R9001:Mpdz UTSW 4 81,299,999 (GRCm39) missense probably benign
R9223:Mpdz UTSW 4 81,202,867 (GRCm39) missense probably damaging 1.00
R9415:Mpdz UTSW 4 81,235,905 (GRCm39) nonsense probably null
R9486:Mpdz UTSW 4 81,254,043 (GRCm39) missense probably damaging 1.00
R9520:Mpdz UTSW 4 81,304,555 (GRCm39) missense probably benign
R9526:Mpdz UTSW 4 81,274,653 (GRCm39) missense probably benign
R9556:Mpdz UTSW 4 81,278,263 (GRCm39) missense probably damaging 1.00
R9722:Mpdz UTSW 4 81,304,504 (GRCm39) missense probably damaging 0.97
RF013:Mpdz UTSW 4 81,211,829 (GRCm39) missense possibly damaging 0.60
X0011:Mpdz UTSW 4 81,210,996 (GRCm39) critical splice donor site probably null
Z1177:Mpdz UTSW 4 81,238,727 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGGTAACAATGTGGATAAAACTGCACGA -3'
(R):5'- GCTGCCCAGCACACTGTGA -3'

Sequencing Primer
(F):5'- TGCACGAATAGAGAAATCCACTAC -3'
(R):5'- gctgggatttgaactctggac -3'
Posted On 2014-04-24