Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01394:Mpdz'

79332

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 #

IGL01394

Quality Score

Status

Chromosome

Chromosomal Location

81196737-81361052 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81210728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1706 (V1706D)

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: V1705D

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000099894
Gene: ENSMUSG00000028402
AA Change: V1705D

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

probably benign
Transcript: ENSMUST00000107258
AA Change: V1672D

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000102879
Gene: ENSMUSG00000028402
AA Change: V1672D

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

possibly damaging
Transcript: ENSMUST00000107262
AA Change: V1706D

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102883
Gene: ENSMUSG00000028402
AA Change: V1706D

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: ENSMUST00000124805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129732

Predicted Effect

probably benign
Transcript: ENSMUST00000131547
AA Change: V41D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116767
Gene: ENSMUSG00000028402
AA Change: V41D

Domain	Start	End	E-Value	Type
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
AA Change: V145D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000116830
Gene: ENSMUSG00000028402
AA Change: V145D

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000220807
AA Change: V1719D

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	G	A	7: 130,747,960 (GRCm39)	Q11*	probably null	Het
Acot5	T	C	12: 84,122,262 (GRCm39)	I282T	probably benign	Het
Adcy2	A	G	13: 69,130,521 (GRCm39)	V122A	probably damaging	Het
Aldh16a1	A	C	7: 44,794,937 (GRCm39)	S511A	probably benign	Het
Arid3b	T	C	9: 57,702,317 (GRCm39)	E480G	probably damaging	Het
Baz2a	T	C	10: 127,954,514 (GRCm39)	V723A	possibly damaging	Het
Bmpr1b	A	G	3: 141,568,742 (GRCm39)		probably null	Het
Ccdc83	T	C	7: 89,873,209 (GRCm39)	E382G	probably damaging	Het
Cfap46	A	G	7: 139,246,895 (GRCm39)	Y349H	probably damaging	Het
Clpx	T	C	9: 65,217,495 (GRCm39)	V21A	probably damaging	Het
Clstn1	A	G	4: 149,719,239 (GRCm39)	N356S	possibly damaging	Het
Ctnnd1	A	G	2: 84,435,600 (GRCm39)		probably benign	Het
Dock1	A	G	7: 134,367,945 (GRCm39)	N505S	probably benign	Het
Eaf2	G	A	16: 36,630,928 (GRCm39)	P82S	probably damaging	Het
Fbxw26	T	C	9: 109,547,057 (GRCm39)	Y456C	probably benign	Het
Foxred2	T	C	15: 77,839,820 (GRCm39)	T157A	probably benign	Het
Fscb	A	T	12: 64,520,578 (GRCm39)	I296K	possibly damaging	Het
Gad1-ps	A	G	10: 99,281,424 (GRCm39)		noncoding transcript	Het
Golgb1	A	G	16: 36,751,926 (GRCm39)	E3120G	probably damaging	Het
Ift140	A	G	17: 25,313,676 (GRCm39)	D1369G	probably benign	Het
Kcnk13	T	C	12: 100,027,921 (GRCm39)	V332A	probably benign	Het
Lama3	T	A	18: 12,664,983 (GRCm39)	D661E	probably null	Het
Lum	A	T	10: 97,404,834 (GRCm39)	D243V	probably damaging	Het
Mgat4c	A	G	10: 102,220,975 (GRCm39)	T86A	possibly damaging	Het
Myrfl	T	C	10: 116,658,592 (GRCm39)	Q455R	probably benign	Het
Or6k2	T	C	1: 173,986,423 (GRCm39)	F28S	probably damaging	Het
Or8c20	T	A	9: 38,261,101 (GRCm39)	S241T	possibly damaging	Het
Papolg	G	A	11: 23,817,235 (GRCm39)	T654I	probably benign	Het
Pappa2	G	A	1: 158,592,674 (GRCm39)		probably benign	Het
Plekhh2	C	T	17: 84,864,858 (GRCm39)	T82I	probably benign	Het
Prrc2a	A	G	17: 35,372,080 (GRCm39)	V1773A	probably benign	Het
Psmb8	G	T	17: 34,419,703 (GRCm39)	V186L	probably damaging	Het
Rin3	T	C	12: 102,339,862 (GRCm39)	V604A	probably damaging	Het
Rtn1	T	C	12: 72,355,190 (GRCm39)	D252G	probably benign	Het
Sdk1	C	T	5: 141,598,970 (GRCm39)	H212Y	probably benign	Het
Slc5a5	G	T	8: 71,342,032 (GRCm39)	Y307*	probably null	Het
Slc9a9	T	A	9: 95,005,090 (GRCm39)	L499Q	probably benign	Het
Snx8	C	A	5: 140,337,934 (GRCm39)	G237V	probably benign	Het
Spata18	T	A	5: 73,836,688 (GRCm39)		probably null	Het
Stard9	A	G	2: 120,536,808 (GRCm39)	E417G	possibly damaging	Het
Ubr5	T	C	15: 38,009,875 (GRCm39)	D1034G	possibly damaging	Het
Upf2	A	G	2: 6,045,024 (GRCm39)		probably null	Het
Xrcc6	A	G	15: 81,909,862 (GRCm39)	K89R	possibly damaging	Het
Yeats2	T	C	16: 19,980,782 (GRCm39)	V237A	probably damaging	Het
Zdhhc6	A	G	19: 55,298,324 (GRCm39)	W178R	probably benign	Het
Zfp280b	C	A	10: 75,875,497 (GRCm39)	Q459K	probably damaging	Het
Zfp811	C	A	17: 33,016,794 (GRCm39)	K414N	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
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
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

2013-11-05