Incidental Mutation 'R6125:Mpdz'
ID 487329
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 044272-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6125 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 81196737-81361052 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 81215764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 1487 (C1487S)
Ref Sequence ENSEMBL: ENSMUSP00000102883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102830] [ENSMUST00000107258] [ENSMUST00000107262] [ENSMUST00000131547] [ENSMUST00000134726] [ENSMUST00000220807]
AlphaFold Q8VBX6
Predicted Effect probably benign
Transcript: ENSMUST00000102830
AA Change: C1486S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099894
Gene: ENSMUSG00000028402
AA Change: C1486S

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: C1453S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102879
Gene: ENSMUSG00000028402
AA Change: C1453S

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: C1487S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102883
Gene: ENSMUSG00000028402
AA Change: C1487S

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: ENSMUST00000129732
Predicted Effect probably benign
Transcript: ENSMUST00000131547
SMART Domains Protein: ENSMUSP00000116767
Gene: ENSMUSG00000028402

DomainStartEndE-ValueType
Blast:PDZ 1 33 8e-15 BLAST
PDB:2OPG|B 1 37 1e-19 PDB
PDZ 55 128 3.62e-21 SMART
low complexity region 134 151 N/A INTRINSIC
Blast:PDZ 167 209 1e-11 BLAST
PDB:2IWP|B 173 209 3e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000134726
SMART Domains Protein: ENSMUSP00000116830
Gene: ENSMUSG00000028402

DomainStartEndE-ValueType
PDZ 90 137 7.6e0 SMART
PDZ 159 232 3.62e-21 SMART
low complexity region 238 255 N/A INTRINSIC
PDZ 296 373 9.79e-18 SMART
PDZ 420 495 2.39e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140425
Predicted Effect probably benign
Transcript: ENSMUST00000220807
AA Change: C1500S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.5%
Validation Efficiency 97% (65/67)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef11 T C 3: 87,636,909 (GRCm39) F1023S probably damaging Het
Atp1a1 G A 3: 101,498,023 (GRCm39) R255C probably damaging Het
Bbs12 A G 3: 37,374,700 (GRCm39) I383V probably benign Het
Cacna1h G A 17: 25,604,668 (GRCm39) P1215L probably benign Het
Calm5 A T 13: 3,904,491 (GRCm39) K62* probably null Het
Chd8 T A 14: 52,444,491 (GRCm39) H398L probably benign Het
Cspg4b A G 13: 113,454,217 (GRCm39) T88A probably benign Het
Dlgap2 A T 8: 14,777,193 (GRCm39) H146L possibly damaging Het
Dop1a G A 9: 86,403,186 (GRCm39) R1462H probably damaging Het
Dusp29 C A 14: 21,736,758 (GRCm39) V115L probably benign Het
Dync2h1 T C 9: 7,168,706 (GRCm39) N369S probably damaging Het
Fer1l4 A C 2: 155,888,907 (GRCm39) V422G probably damaging Het
Fstl4 T C 11: 53,077,130 (GRCm39) M629T probably benign Het
Galnt18 A G 7: 111,084,400 (GRCm39) Y507H probably damaging Het
Gar1 C A 3: 129,624,399 (GRCm39) probably benign Het
Gm19402 T C 10: 77,526,507 (GRCm39) T29A probably damaging Het
Gm826 A G 2: 160,169,034 (GRCm39) F92L unknown Het
H1f0 T A 15: 78,913,070 (GRCm39) I50N probably damaging Het
H2-DMb1 A G 17: 34,376,439 (GRCm39) Y186C probably damaging Het
Hgf A G 5: 16,803,159 (GRCm39) N357S probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hsf2 T C 10: 57,388,101 (GRCm39) V415A probably benign Het
Ins2 C A 7: 142,233,430 (GRCm39) probably null Het
Kel A T 6: 41,667,720 (GRCm39) F89L probably damaging Het
Lratd2 T C 15: 60,695,146 (GRCm39) N200S probably damaging Het
Lrrc37a T C 11: 103,392,386 (GRCm39) D1013G probably benign Het
Ltbp4 C A 7: 27,027,180 (GRCm39) G397C probably damaging Het
Madd A G 2: 90,982,797 (GRCm39) probably null Het
Map4k4 A G 1: 40,043,125 (GRCm39) D660G possibly damaging Het
Mdm4 G A 1: 132,922,248 (GRCm39) T298I possibly damaging Het
Mlip G A 9: 77,137,764 (GRCm39) S381L probably damaging Het
Mtus1 A G 8: 41,537,576 (GRCm39) S47P probably damaging Het
Nek1 T C 8: 61,481,735 (GRCm39) S217P probably damaging Het
Or10ag59 T C 2: 87,405,590 (GRCm39) I54T probably benign Het
Or5b123 C T 19: 13,597,249 (GRCm39) A241V probably benign Het
Pcdhb10 T C 18: 37,546,679 (GRCm39) V585A possibly damaging Het
Perm1 A G 4: 156,302,176 (GRCm39) E240G probably benign Het
Pkdrej T C 15: 85,700,585 (GRCm39) T1784A probably damaging Het
Pnpla8 C T 12: 44,354,772 (GRCm39) T644M possibly damaging Het
Rgs2 T C 1: 143,879,763 (GRCm39) K32E probably damaging Het
Scyl3 A T 1: 163,778,145 (GRCm39) M428L probably benign Het
Slc30a8 A G 15: 52,198,530 (GRCm39) D325G probably benign Het
Slc5a9 G T 4: 111,741,002 (GRCm39) T548K probably damaging Het
Slc9b2 G A 3: 135,036,457 (GRCm39) probably null Het
Slco3a1 C T 7: 73,968,254 (GRCm39) D489N probably benign Het
Slit3 T C 11: 35,461,560 (GRCm39) probably null Het
Stk39 C A 2: 68,222,468 (GRCm39) G199C probably damaging Het
Tbx1 A G 16: 18,402,216 (GRCm39) F263L probably damaging Het
Tcf21 G T 10: 22,695,665 (GRCm39) N46K probably benign Het
Tdrd9 T A 12: 112,034,632 (GRCm39) M1357K possibly damaging Het
Tll1 A G 8: 64,504,521 (GRCm39) L625P probably damaging Het
Tmem131 G A 1: 36,847,387 (GRCm39) S1237L possibly damaging Het
Trdv5 T C 14: 54,386,298 (GRCm39) K56E possibly damaging Het
Triml2 G A 8: 43,640,659 (GRCm39) V172I probably benign Het
Trmt44 C A 5: 35,722,842 (GRCm39) D409Y probably damaging Het
Ube2o C T 11: 116,432,204 (GRCm39) A921T probably damaging Het
Ube2o T C 11: 116,435,576 (GRCm39) D404G possibly damaging Het
Ube4b T C 4: 149,483,203 (GRCm39) T22A probably benign Het
Ugp2 A T 11: 21,279,815 (GRCm39) F327L probably damaging Het
Virma T C 4: 11,521,172 (GRCm39) S910P probably damaging Het
Vmn2r9 A G 5: 108,990,836 (GRCm39) Y842H probably benign Het
Zfhx4 A G 3: 5,463,871 (GRCm39) D1368G possibly damaging Het
Zfp980 T A 4: 145,429,208 (GRCm39) *646R probably null Het
Zranb3 T A 1: 127,887,482 (GRCm39) N982Y 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
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
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'- AGGTTTGAGCCTTCCATCC -3'
(R):5'- GCAGAGCTTGTTCACTTGTGTC -3'

Sequencing Primer
(F):5'- GAGCCTTCCATCCTAAGGTGAAATG -3'
(R):5'- GTCTCACTTGTAATTCTCGTTGATAG -3'
Posted On 2017-10-10