Incidental Mutation 'R9486:Mpdz'
ID 716571
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9486 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 81196737-81361052 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81254043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1030 (I1030F)
Ref Sequence ENSEMBL: ENSMUSP00000102879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102830] [ENSMUST00000107258] [ENSMUST00000107262] [ENSMUST00000134572] [ENSMUST00000220807]
AlphaFold Q8VBX6
Predicted Effect probably damaging
Transcript: ENSMUST00000102830
AA Change: I1030F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099894
Gene: ENSMUSG00000028402
AA Change: I1030F

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 damaging
Transcript: ENSMUST00000107258
AA Change: I1030F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102879
Gene: ENSMUSG00000028402
AA Change: I1030F

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 damaging
Transcript: ENSMUST00000107262
AA Change: I1030F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102883
Gene: ENSMUSG00000028402
AA Change: I1030F

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: ENSMUST00000134572
AA Change: I9F

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122308
Gene: ENSMUSG00000028402
AA Change: I9F

DomainStartEndE-ValueType
PDZ 1 59 1.9e-1 SMART
PDB:2FCF|A 87 138 1e-30 PDB
Blast:PDZ 96 138 7e-22 BLAST
SCOP:d1be9a_ 104 138 2e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000220807
AA Change: I1030F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,546,942 (GRCm39) F396L probably damaging Het
Abca13 T C 11: 9,240,621 (GRCm39) I828T possibly damaging Het
Ace3 A T 11: 105,896,219 (GRCm39) T722S probably benign Het
Acot2 A G 12: 84,039,426 (GRCm39) T312A probably benign Het
Adra2a A G 19: 54,035,963 (GRCm39) I440V probably damaging Het
Arhgap22 T A 14: 33,073,303 (GRCm39) M4K probably benign Het
Atp8b3 C T 10: 80,366,821 (GRCm39) C259Y probably damaging Het
Bcl2 T A 1: 106,471,109 (GRCm39) Y199F probably benign Het
Brca1 A T 11: 101,414,520 (GRCm39) C1205S probably benign Het
Col7a1 T C 9: 108,811,396 (GRCm39) V2743A unknown Het
Crybg1 A G 10: 43,880,145 (GRCm39) probably benign Het
Cyp2c40 T A 19: 39,755,808 (GRCm39) H502L probably benign Het
Cyp2c40 A T 19: 39,796,050 (GRCm39) Y109* probably null Het
Cyp4a29 T C 4: 115,106,916 (GRCm39) M191T probably damaging Het
Dcaf1 A G 9: 106,735,916 (GRCm39) R955G possibly damaging Het
Dcaf4 G T 12: 83,582,726 (GRCm39) A274S probably damaging Het
Dlx1 A G 2: 71,362,828 (GRCm39) H245R probably damaging Het
Dnah14 A G 1: 181,508,494 (GRCm39) N1891D possibly damaging Het
Dock10 A T 1: 80,479,452 (GRCm39) V2167D unknown Het
Epyc A G 10: 97,511,697 (GRCm39) Q230R probably benign Het
Etnk1 G A 6: 143,130,310 (GRCm39) R143H probably damaging Het
Fhip2b T C 14: 70,826,479 (GRCm39) D203G probably benign Het
Fmo2 T C 1: 162,708,292 (GRCm39) E281G probably damaging Het
Gm2042 T A 12: 87,925,963 (GRCm39) Y304N possibly damaging Het
Hecw2 T C 1: 53,852,466 (GRCm39) D1551G probably damaging Het
Hgd A T 16: 37,413,811 (GRCm39) D91V probably benign Het
Hspa12a A G 19: 58,797,891 (GRCm39) F276L probably benign Het
Ifitm10 C T 7: 141,909,812 (GRCm39) V95M probably damaging Het
Ints3 G A 3: 90,313,579 (GRCm39) R350* probably null Het
Kdm4c T A 4: 74,252,966 (GRCm39) I511K probably benign Het
Kif27 A G 13: 58,492,348 (GRCm39) S264P probably damaging Het
L1td1 A G 4: 98,624,899 (GRCm39) T365A probably benign Het
Ltbp2 T A 12: 84,878,648 (GRCm39) T304S possibly damaging Het
Mamdc4 T A 2: 25,455,164 (GRCm39) Y962F probably benign Het
Map3k4 C T 17: 12,489,860 (GRCm39) A524T probably damaging Het
Mfsd8 C T 3: 40,789,627 (GRCm39) R140H probably damaging Het
Mmp3 A G 9: 7,451,256 (GRCm39) I331V possibly damaging Het
Mtx1 A T 3: 89,120,163 (GRCm39) C62S Het
Muc20 A T 16: 32,615,248 (GRCm39) V43E possibly damaging Het
Naa25 A G 5: 121,577,958 (GRCm39) E955G probably damaging Het
Nelfcd A G 2: 174,268,635 (GRCm39) Y562C probably damaging Het
Nsd2 T A 5: 34,018,493 (GRCm39) M509K probably benign Het
Obscn T C 11: 58,918,272 (GRCm39) T207A Het
Or1ad1 T A 11: 50,875,691 (GRCm39) H54Q possibly damaging Het
Or4a39 C T 2: 89,236,959 (GRCm39) V155M possibly damaging Het
Or4k5 T A 14: 50,385,672 (GRCm39) I220L probably benign Het
Osbpl11 A T 16: 33,006,283 (GRCm39) N37I possibly damaging Het
Pcdh9 A G 14: 93,797,956 (GRCm39) S1032P possibly damaging Het
Pde6b T A 5: 108,551,241 (GRCm39) I175N probably damaging Het
Pfkl T A 10: 77,824,184 (GRCm39) M735L probably benign Het
Pkp4 T C 2: 59,138,722 (GRCm39) V324A probably benign Het
Ptprb T A 10: 116,155,494 (GRCm39) C462* probably null Het
Rasal3 T C 17: 32,617,910 (GRCm39) N221S probably benign Het
Reep1 A T 6: 71,684,969 (GRCm39) I6F probably benign Het
Rhobtb1 T A 10: 69,106,621 (GRCm39) F457L probably damaging Het
Ryr1 T C 7: 28,777,965 (GRCm39) N2184S probably benign Het
Scn11a T G 9: 119,624,774 (GRCm39) H516P possibly damaging Het
Sipa1l1 T C 12: 82,404,139 (GRCm39) probably null Het
Slc17a7 A G 7: 44,821,606 (GRCm39) N381S possibly damaging Het
Slc38a3 C T 9: 107,536,322 (GRCm39) V25M probably benign Het
Spag1 T G 15: 36,181,954 (GRCm39) D37E probably damaging Het
Spib G T 7: 44,178,815 (GRCm39) D114E possibly damaging Het
Tpx2 A T 2: 152,726,933 (GRCm39) Y400F probably damaging Het
Trhde A G 10: 114,532,014 (GRCm39) I362T possibly damaging Het
Usp17ld C T 7: 102,899,381 (GRCm39) G517E probably benign Het
Vmn1r22 A T 6: 57,877,404 (GRCm39) M191K probably damaging Het
Wdr6 G A 9: 108,453,182 (GRCm39) R234C probably damaging Het
Zdhhc22 C T 12: 87,030,398 (GRCm39) M183I probably benign Het
Zfp1007 C A 5: 109,824,062 (GRCm39) G463* probably null Het
Zfp949 C A 9: 88,452,182 (GRCm39) T584N 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
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
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'- TATCCGGGATCAAGAAACCAG -3'
(R):5'- AAAAGCATGACTCCTGTCCTCTAC -3'

Sequencing Primer
(F):5'- GGAGGTAAAACTCATGAATTTCCG -3'
(R):5'- AGCATGACTCCTGTCCTCTACAAATC -3'
Posted On 2022-07-18