Incidental Mutation 'R5044:Mpdz'
ID 394242
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 042634-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5044 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 81196737-81361052 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 81299934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 355 (S355T)
Ref Sequence ENSEMBL: ENSMUSP00000152533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102830] [ENSMUST00000107258] [ENSMUST00000107262] [ENSMUST00000220807]
AlphaFold Q8VBX6
Predicted Effect probably benign
Transcript: ENSMUST00000102830
AA Change: S355T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000099894
Gene: ENSMUSG00000028402
AA Change: S355T

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: S355T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000102879
Gene: ENSMUSG00000028402
AA Change: S355T

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: S355T

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000102883
Gene: ENSMUSG00000028402
AA Change: S355T

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 benign
Transcript: ENSMUST00000220807
AA Change: S355T

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.0625 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 96% (73/76)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,323,323 (GRCm39) F3387I possibly damaging Het
Acacb T A 5: 114,304,088 (GRCm39) S170R probably benign Het
Adamtsl4 A G 3: 95,588,960 (GRCm39) probably null Het
Adgrv1 A G 13: 81,637,050 (GRCm39) C3464R probably benign Het
Apbb1 A T 7: 105,214,889 (GRCm39) probably benign Het
Cad A G 5: 31,212,365 (GRCm39) T23A probably benign Het
Cdca7 A G 2: 72,313,759 (GRCm39) R183G probably benign Het
Cdpf1 T C 15: 85,693,513 (GRCm39) T5A probably benign Het
Cep85 T C 4: 133,883,490 (GRCm39) D133G probably damaging Het
Chrna9 T C 5: 66,128,359 (GRCm39) L189P probably damaging Het
Clca3a1 A C 3: 144,713,689 (GRCm39) probably null Het
Cntn1 G T 15: 92,140,876 (GRCm39) V201F probably damaging Het
Col4a3 A G 1: 82,644,267 (GRCm39) E352G unknown Het
Ddhd2 T C 8: 26,242,164 (GRCm39) Y237C probably damaging Het
Dnah6 A C 6: 73,014,605 (GRCm39) F3609V probably benign Het
Epha3 T C 16: 63,422,650 (GRCm39) K580R possibly damaging Het
Fam135b T C 15: 71,334,560 (GRCm39) N878S probably benign Het
Fbn1 T G 2: 125,171,022 (GRCm39) T1938P probably damaging Het
Foxg1 T C 12: 49,431,969 (GRCm39) V234A probably damaging Het
Garin5b T C 7: 4,761,660 (GRCm39) N351D probably benign Het
Glt1d1 A T 5: 127,721,478 (GRCm39) N55I probably benign Het
Gm17641 C A 3: 68,776,807 (GRCm39) probably benign Het
Gm7665 A G 18: 16,407,788 (GRCm39) noncoding transcript Het
Hgf A C 5: 16,819,892 (GRCm39) N541T probably benign Het
Hipk2 G A 6: 38,795,814 (GRCm39) P152S probably benign Het
Jarid2 C T 13: 45,060,041 (GRCm39) L720F probably damaging Het
Kifc5b A G 17: 27,143,761 (GRCm39) E511G probably damaging Het
Ldlr G A 9: 21,646,538 (GRCm39) A235T probably benign Het
Lmln A G 16: 32,894,550 (GRCm39) D231G possibly damaging Het
Lrp1 A G 10: 127,403,364 (GRCm39) C2070R probably damaging Het
Mbl1 A G 14: 40,880,681 (GRCm39) T190A possibly damaging Het
Muc19 C T 15: 91,772,332 (GRCm39) noncoding transcript Het
Mycbp2 A C 14: 103,376,671 (GRCm39) probably null Het
Naa20 T C 2: 145,757,762 (GRCm39) S164P probably damaging Het
Nme4 A T 17: 26,312,807 (GRCm39) probably benign Het
Npas2 A T 1: 39,386,587 (GRCm39) R619* probably null Het
Nudt19 G A 7: 35,255,171 (GRCm39) T20I possibly damaging Het
Or4c119 T A 2: 88,987,283 (GRCm39) K79* probably null Het
Or5b97 A G 19: 12,878,365 (GRCm39) Y260H probably damaging Het
Pitpnc1 A G 11: 107,187,054 (GRCm39) Y90H possibly damaging Het
Rcor2 A G 19: 7,247,150 (GRCm39) T6A probably benign Het
Rif1 T A 2: 51,999,940 (GRCm39) S1131R probably damaging Het
Rtkn T A 6: 83,127,972 (GRCm39) D377E probably benign Het
Rtn4rl2 T A 2: 84,702,846 (GRCm39) N242I probably damaging Het
Sbno2 G A 10: 79,898,022 (GRCm39) L719F probably benign Het
Scn11a G T 9: 119,648,897 (GRCm39) D55E probably damaging Het
Setd1b T A 5: 123,289,929 (GRCm39) I632N unknown Het
Spaca6 A G 17: 18,051,458 (GRCm39) T45A probably benign Het
Srpk2 A T 5: 23,729,390 (GRCm39) D416E possibly damaging Het
Sspo A T 6: 48,443,889 (GRCm39) probably null Het
Sycp1 A T 3: 102,752,370 (GRCm39) I804N probably benign Het
Tdp2 G A 13: 25,015,809 (GRCm39) R32Q probably benign Het
Tgfbr3 A G 5: 107,284,795 (GRCm39) V618A possibly damaging Het
Tmc3 C T 7: 83,258,326 (GRCm39) P439S probably benign Het
Tnxb A T 17: 34,936,457 (GRCm39) D2740V probably damaging Het
Tspyl4 A G 10: 34,173,933 (GRCm39) T142A probably benign Het
Ttn T C 2: 76,710,785 (GRCm39) probably benign Het
Tubgcp4 T C 2: 121,004,061 (GRCm39) L34P probably damaging Het
Tubgcp6 G T 15: 88,983,748 (GRCm39) probably benign Het
Unc79 T A 12: 103,078,962 (GRCm39) V1690E probably benign Het
Vps4b T C 1: 106,724,148 (GRCm39) probably null Het
Wtap A G 17: 13,186,525 (GRCm39) S341P possibly damaging Het
Wwc1 T C 11: 35,774,172 (GRCm39) T363A probably benign Het
Zbtb8a G A 4: 129,254,293 (GRCm39) T67M probably damaging Het
Zfp865 T C 7: 5,037,668 (GRCm39) 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
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'- TCTGAATACTGTTTGCTTAGACCTT -3'
(R):5'- GCGATTATGCAGTGGAGACCA -3'

Sequencing Primer
(F):5'- TTTAAGGCCAAGCACAGGGATTC -3'
(R):5'- GAGACCACATTCTAAAGATTGGTGAC -3'
Posted On 2016-06-15