Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00497:Mpdz'

6645

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mpdz

Ensembl Gene

ENSMUSG00000028402

Gene Name

multiple PDZ domain crumbs cell polarity complex component

Synonyms

MUPP1, B930003D11Rik, multiple PDZ domain protein

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00497

Quality Score

Status

Chromosome

Chromosomal Location

81196737-81361052 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 81253979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 1051 (I1051S)

Ref Sequence

ENSEMBL: ENSMUSP00000102883 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102830] [ENSMUST00000107258] [ENSMUST00000107262] [ENSMUST00000134572] [ENSMUST00000220807]

AlphaFold

Q8VBX6

Predicted Effect

probably benign
Transcript: ENSMUST00000102830
AA Change: I1051S

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000099894
Gene: ENSMUSG00000028402
AA Change: I1051S

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000104419

Predicted Effect

probably benign
Transcript: ENSMUST00000107258
AA Change: I1051S

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000102879
Gene: ENSMUSG00000028402
AA Change: I1051S

Domain	Start	End	E-Value	Type
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: I1051S

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102883
Gene: ENSMUSG00000028402
AA Change: I1051S

Domain	Start	End	E-Value	Type
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: ENSMUST00000125288

SMART Domains

Protein: ENSMUSP00000117434
Gene: ENSMUSG00000028402

Domain	Start	End	E-Value	Type
low complexity region	60	75	N/A	INTRINSIC
Pfam:PDZ	88	147	5.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134572
AA Change: I30S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000122308
Gene: ENSMUSG00000028402
AA Change: I30S

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000220807
AA Change: I1051S

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579G24Rik	G	A	3: 79,538,598 (GRCm39)		probably benign	Het
Aatk	C	T	11: 119,901,012 (GRCm39)	R1128Q	probably benign	Het
Acot6	C	T	12: 84,156,212 (GRCm39)	R387C	probably damaging	Het
Adam11	A	G	11: 102,660,973 (GRCm39)	E118G	probably damaging	Het
Adcyap1r1	G	A	6: 55,449,264 (GRCm39)	V73I	probably damaging	Het
Apol8	T	C	15: 77,634,214 (GRCm39)	T121A	probably damaging	Het
Bltp2	A	G	11: 78,163,759 (GRCm39)	N1076D	probably damaging	Het
Ccdc91	C	A	6: 147,508,485 (GRCm39)	Q404K	unknown	Het
Cpt1b	T	C	15: 89,306,496 (GRCm39)	K294R	probably benign	Het
Dnah6	A	C	6: 73,172,744 (GRCm39)	V238G	probably damaging	Het
Dscaml1	T	C	9: 45,663,536 (GRCm39)	S1920P	probably damaging	Het
Gcfc2	A	T	6: 81,934,951 (GRCm39)	I737L	probably benign	Het
Gmeb1	A	G	4: 131,955,296 (GRCm39)	V293A	probably benign	Het
Gpi-ps	T	C	8: 5,690,563 (GRCm39)		noncoding transcript	Het
Hibch	A	G	1: 52,924,349 (GRCm39)		probably benign	Het
Ifnab	A	G	4: 88,609,419 (GRCm39)	Y16H	probably benign	Het
Il17rc	T	C	6: 113,451,132 (GRCm39)	V155A	probably damaging	Het
Lrr1	A	G	12: 69,221,356 (GRCm39)	H166R	probably benign	Het
Map4k5	G	T	12: 69,892,506 (GRCm39)	A141E	probably damaging	Het
Mettl17	A	T	14: 52,126,292 (GRCm39)	K233N	probably damaging	Het
Mon2	A	G	10: 122,862,204 (GRCm39)	L740S	probably damaging	Het
Mroh8	A	G	2: 157,058,834 (GRCm39)	F944S	probably damaging	Het
Myh13	A	G	11: 67,233,314 (GRCm39)	Y611C	probably damaging	Het
Npat	A	G	9: 53,478,100 (GRCm39)	N951D	possibly damaging	Het
Osmr	T	C	15: 6,876,547 (GRCm39)	S126G	probably benign	Het
Parp14	T	C	16: 35,655,206 (GRCm39)	Y1755C	probably damaging	Het
Phf14	T	C	6: 11,941,423 (GRCm39)		probably benign	Het
Prex2	T	A	1: 11,256,876 (GRCm39)	M1196K	possibly damaging	Het
Prkd1	A	T	12: 50,430,264 (GRCm39)	D614E	probably damaging	Het
Ptprm	A	G	17: 67,124,967 (GRCm39)	L794P	probably damaging	Het
Rb1	C	T	14: 73,502,038 (GRCm39)	R449H	probably damaging	Het
Scfd1	A	G	12: 51,474,652 (GRCm39)	D469G	probably benign	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Sgo1	A	G	17: 53,984,130 (GRCm39)		probably benign	Het
Slc11a1	A	G	1: 74,421,057 (GRCm39)		probably null	Het
Snw1	A	G	12: 87,499,350 (GRCm39)		probably null	Het
Stac3	T	C	10: 127,339,533 (GRCm39)	I143T	probably damaging	Het
Tcta	A	T	9: 108,183,115 (GRCm39)	L10Q	probably damaging	Het
Tha1	T	C	11: 117,761,831 (GRCm39)		probably benign	Het
Trmt1	T	C	8: 85,422,138 (GRCm39)	M254T	possibly damaging	Het
Trps1	T	A	15: 50,524,703 (GRCm39)	M887L	possibly damaging	Het
Zfyve28	A	G	5: 34,400,539 (GRCm39)	V53A	probably damaging	Het

Other mutations in Mpdz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2012-04-20