Incidental Mutation 'R4675:Mpdz'
ID 349471
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 041930-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4675 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 81196737-81361052 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 81302049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 233 (R233W)
Ref Sequence ENSEMBL: ENSMUSP00000152533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102830] [ENSMUST00000107258] [ENSMUST00000107262] [ENSMUST00000220807]
AlphaFold Q8VBX6
Predicted Effect possibly damaging
Transcript: ENSMUST00000102830
AA Change: R233W

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099894
Gene: ENSMUSG00000028402
AA Change: R233W

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 possibly damaging
Transcript: ENSMUST00000107258
AA Change: R233W

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102879
Gene: ENSMUSG00000028402
AA Change: R233W

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 possibly damaging
Transcript: ENSMUST00000107262
AA Change: R233W

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102883
Gene: ENSMUSG00000028402
AA Change: R233W

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 probably damaging
Transcript: ENSMUST00000220807
AA Change: R233W

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 95% (89/94)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik C A 17: 36,203,820 (GRCm39) K291N probably damaging Het
Adgra1 A G 7: 139,456,102 (GRCm39) T577A probably damaging Het
Akip1 T A 7: 109,308,188 (GRCm39) I152N possibly damaging Het
Armc9 A G 1: 86,130,240 (GRCm39) Y8C probably damaging Het
Atp1a4 A T 1: 172,085,223 (GRCm39) V66E possibly damaging Het
Atp2a3 A T 11: 72,872,623 (GRCm39) T724S probably damaging Het
Bmp1 C A 14: 70,730,284 (GRCm39) R416L probably damaging Het
Bmt2 G T 6: 13,663,300 (GRCm39) A66E probably benign Het
Bscl2 A T 19: 8,825,523 (GRCm39) D403V possibly damaging Het
Cbx2 T A 11: 118,919,935 (GRCm39) I500N probably damaging Het
Cd84 A T 1: 171,700,887 (GRCm39) H216L possibly damaging Het
Cdhr18 A T 14: 13,856,724 (GRCm38) D462E probably benign Het
Ceacam15 T C 7: 16,407,410 (GRCm39) T36A probably benign Het
Cebpd A G 16: 15,705,385 (GRCm39) D66G probably damaging Het
Cntnap4 A G 8: 113,512,468 (GRCm39) Y610C probably damaging Het
Col11a2 T C 17: 34,283,267 (GRCm39) probably null Het
Col17a1 T C 19: 47,651,497 (GRCm39) probably null Het
Cracr2b A G 7: 141,043,451 (GRCm39) D43G probably damaging Het
Dgkz T A 2: 91,768,691 (GRCm39) K697* probably null Het
Dnah7b T A 1: 46,256,317 (GRCm39) D1873E possibly damaging Het
Dst G A 1: 34,314,784 (GRCm39) E6472K possibly damaging Het
Duox2 T C 2: 122,111,414 (GRCm39) D1428G probably damaging Het
Elmod2 T C 8: 84,043,537 (GRCm39) N210S probably damaging Het
Ephx1 A G 1: 180,822,256 (GRCm39) F220S probably damaging Het
F13b A G 1: 139,429,542 (GRCm39) Y20C unknown Het
Fbn2 T A 18: 58,173,265 (GRCm39) N2051I possibly damaging Het
Gabrg2 G A 11: 41,859,650 (GRCm39) H201Y probably damaging Het
Gbgt1 T C 2: 28,388,453 (GRCm39) F46S possibly damaging Het
Gjd4 A G 18: 9,280,578 (GRCm39) S167P probably damaging Het
Heatr5a T C 12: 51,924,130 (GRCm39) N2028D probably benign Het
Heca T C 10: 17,791,057 (GRCm39) H333R probably benign Het
Herc1 T C 9: 66,298,740 (GRCm39) S625P probably damaging Het
Ighv1-55 T C 12: 115,172,175 (GRCm39) probably benign Het
Ighv5-8 G A 12: 113,618,777 (GRCm39) S64N probably benign Het
Itga1 G T 13: 115,138,227 (GRCm39) probably null Het
Kif21a C A 15: 90,824,748 (GRCm39) R1342L possibly damaging Het
Ksr1 G A 11: 78,965,186 (GRCm39) P118S possibly damaging Het
Lat2 T C 5: 134,634,911 (GRCm39) N100S probably damaging Het
Lrit3 T A 3: 129,582,121 (GRCm39) D501V probably damaging Het
Lrrfip1 T A 1: 91,031,042 (GRCm39) probably null Het
Lyst G A 13: 13,809,968 (GRCm39) R546H probably damaging Het
Med21 T A 6: 146,551,691 (GRCm39) L114H probably damaging Het
Mfap4 A T 11: 61,376,336 (GRCm39) probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Ncapd3 T C 9: 27,006,038 (GRCm39) probably benign Het
Neto2 T G 8: 86,396,333 (GRCm39) H104P probably damaging Het
Nr1h2 T C 7: 44,201,979 (GRCm39) T36A possibly damaging Het
Nudt16l2 T C 9: 105,021,647 (GRCm39) D133G probably benign Het
Or13a20 A T 7: 140,232,074 (GRCm39) M61L probably damaging Het
Or4a79 T C 2: 89,551,838 (GRCm39) I206V probably benign Het
Or51ab3 T G 7: 103,201,183 (GRCm39) L64V probably damaging Het
Or51g2 A G 7: 102,623,013 (GRCm39) M62T probably damaging Het
Or52p1 T A 7: 104,267,631 (GRCm39) C248* probably null Het
Or5p52 A G 7: 107,502,567 (GRCm39) I214M probably damaging Het
Or5p72 T C 7: 108,022,309 (GRCm39) V177A possibly damaging Het
Or8b4 T C 9: 37,830,882 (GRCm39) *310R probably null Het
Pcbp3 A G 10: 76,606,869 (GRCm39) L241S possibly damaging Het
Pcf11 G A 7: 92,308,985 (GRCm39) probably benign Het
Podxl G A 6: 31,503,579 (GRCm39) T254M possibly damaging Het
Prr27 A C 5: 87,991,100 (GRCm39) E237D possibly damaging Het
Rdh16 G T 10: 127,637,316 (GRCm39) V84F probably damaging Het
Rnf26 A T 9: 44,023,428 (GRCm39) D273E probably benign Het
Rpl13a A T 7: 44,776,242 (GRCm39) probably benign Het
Rpl3l A G 17: 24,952,584 (GRCm39) K239E probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Rsf1 A AGGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Ryk A G 9: 102,768,415 (GRCm39) D352G possibly damaging Het
Setd1b T A 5: 123,299,061 (GRCm39) probably benign Het
Sh2b1 G A 7: 126,070,618 (GRCm39) A361V possibly damaging Het
Slc35f3 A T 8: 127,047,935 (GRCm39) K92* probably null Het
Slc39a10 A G 1: 46,857,144 (GRCm39) probably benign Het
Slc47a1 G A 11: 61,253,857 (GRCm39) T194I probably benign Het
Slc6a3 C A 13: 73,692,936 (GRCm39) N185K probably damaging Het
Stag1 T C 9: 100,730,758 (GRCm39) V391A probably damaging Het
Syne2 A C 12: 75,996,075 (GRCm39) N2206T probably damaging Het
Tbc1d23 C A 16: 57,003,325 (GRCm39) R481I possibly damaging Het
Tcstv7b T C 13: 120,702,362 (GRCm39) W53R probably damaging Het
Tfam A G 10: 71,069,225 (GRCm39) S166P probably benign Het
Tmem63a A G 1: 180,784,056 (GRCm39) H212R probably benign Het
Txndc11 T A 16: 10,902,745 (GRCm39) Q634L possibly damaging Het
Usp31 T C 7: 121,306,548 (GRCm39) probably benign Het
Vmn1r204 A T 13: 22,740,962 (GRCm39) M198L probably damaging Het
Vmn2r17 A T 5: 109,575,049 (GRCm39) T119S probably benign Het
Vsig1 A G X: 139,833,861 (GRCm39) D227G probably damaging Het
Zfhx2 G A 14: 55,304,678 (GRCm39) P1102L probably benign Het
Zfp715 T C 7: 42,949,444 (GRCm39) Q172R probably benign Het
Zfp872 A G 9: 22,108,701 (GRCm39) D53G probably damaging Het
Zswim8 G A 14: 20,764,681 (GRCm39) D684N probably benign 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
R1589:Mpdz UTSW 4 81,339,413 (GRCm39) missense probably benign 0.00
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
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'- TCAGCAATAGACACCAAGTAGG -3'
(R):5'- AGGAACTGTCGTTTCCTTGAG -3'

Sequencing Primer
(F):5'- CAGCAATAGACACCAAGTAGGAGTAC -3'
(R):5'- GGAACTGTCGTTTCCTTGAGAACATC -3'
Posted On 2015-10-08