Mutagenetix > Incidental Mutations

Incidental Mutation 'R0119:Mpdz'

20963

Institutional Source

Beutler Lab

Gene Symbol

Mpdz

Ensembl Gene

ENSMUSG00000028402

Gene Name

multiple PDZ domain protein

Synonyms

B930003D11Rik, MUPP1

MMRRC Submission

038405-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0119 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

81278500-81442815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81292531 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1693 (T1693A)

Ref Sequence

ENSEMBL: ENSMUSP00000102883 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102830] [ENSMUST00000107258] [ENSMUST00000107262] [ENSMUST00000131547] [ENSMUST00000134726] [ENSMUST00000220807]

Predicted Effect

probably benign
Transcript: ENSMUST00000102830
AA Change: T1692A

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099894
Gene: ENSMUSG00000028402
AA Change: T1692A

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: T1659A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000102879
Gene: ENSMUSG00000028402
AA Change: T1659A

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: T1693A

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102883
Gene: ENSMUSG00000028402
AA Change: T1693A

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: T28A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116767
Gene: ENSMUSG00000028402
AA Change: T28A

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: T132A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000116830
Gene: ENSMUSG00000028402
AA Change: T132A

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

probably benign
Transcript: ENSMUST00000220807
AA Change: T1706A

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.1436

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.2%

Validation Efficiency

99% (68/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	G	A	18: 70,469,482	Q87*	probably null	Het
Abca13	G	A	11: 9,298,076	E2608K	probably benign	Het
Acad9	T	C	3: 36,085,415	V388A	probably damaging	Het
Acpp	T	C	9: 104,320,002	E146G	probably damaging	Het
Adamts18	A	G	8: 113,774,953	I346T	possibly damaging	Het
Adcy8	T	A	15: 64,716,166	D894V	probably damaging	Het
Ap3d1	A	G	10: 80,723,615		probably benign	Het
Arg2	A	G	12: 79,147,612	D70G	probably damaging	Het
Cap1	A	T	4: 122,867,699	L130Q	probably damaging	Het
Carmil1	T	A	13: 24,082,020	N253I	probably damaging	Het
Caskin2	A	G	11: 115,802,427		probably benign	Het
Cd69	C	T	6: 129,270,062	S64N	probably benign	Het
Cd96	T	C	16: 46,038,579		probably benign	Het
Celf6	C	A	9: 59,602,878	T86K	probably benign	Het
Ces1c	A	T	8: 93,106,717		probably benign	Het
Ces1c	A	T	8: 93,107,610	L351M	probably benign	Het
Cnih3	T	A	1: 181,454,744		probably benign	Het
Col15a1	A	T	4: 47,262,950	D534V	probably damaging	Het
Cry1	A	G	10: 85,133,240		probably null	Het
Csmd3	T	C	15: 47,847,131	T1687A	probably benign	Het
Def8	G	A	8: 123,456,495	A278T	probably damaging	Het
Defb13	T	C	8: 21,946,861		probably benign	Het
Dnah1	C	T	14: 31,276,158	G2574D	probably damaging	Het
Dnah8	T	A	17: 30,715,509	F1489L	possibly damaging	Het
Elmo3	T	C	8: 105,309,768	L668S	probably damaging	Het
Elp2	T	C	18: 24,634,409	I716T	probably benign	Het
Fshr	C	G	17: 89,009,285	S169T	probably benign	Het
Gm6327	T	C	16: 12,761,197		noncoding transcript	Het
Gm839	A	T	6: 89,212,380		noncoding transcript	Het
Gng5	T	A	3: 146,503,293	C39S	probably damaging	Het
Gpr55	C	T	1: 85,941,424	W145*	probably null	Het
Hdlbp	A	C	1: 93,421,337		probably benign	Het
Man2a2	G	T	7: 80,367,405	N305K	probably damaging	Het
Me2	A	G	18: 73,770,673	S575P	probably benign	Het
Mier3	T	C	13: 111,715,038	V490A	probably damaging	Het
Mss51	T	A	14: 20,484,688	Q338L	possibly damaging	Het
Muc4	A	T	16: 32,750,195		probably benign	Het
Mug2	T	A	6: 122,036,063	H311Q	probably benign	Het
Neto1	G	A	18: 86,461,320	R211Q	probably benign	Het
Nfat5	C	T	8: 107,339,075	R156W	probably damaging	Het
Nisch	A	G	14: 31,171,924	Y1231H	probably damaging	Het
Obox3	T	A	7: 15,626,327		probably null	Het
Olfr394	C	T	11: 73,887,830	V181I	probably benign	Het
Optn	C	T	2: 5,024,115	G526R	probably damaging	Het
Pcdh15	T	C	10: 74,170,575	F95S	probably damaging	Het
Pcsk6	T	C	7: 66,039,043	V820A	probably benign	Het
Pde5a	A	G	3: 122,748,458	N199S	probably damaging	Het
Pdgfrb	T	A	18: 61,068,852	V496E	probably benign	Het
Per3	A	G	4: 151,024,548		probably benign	Het
Pip4k2b	A	T	11: 97,722,936		probably benign	Het
Podn	G	T	4: 108,021,594	L359I	probably damaging	Het
Rad21	A	T	15: 51,965,030	D547E	probably benign	Het
Rere	T	G	4: 150,615,322		probably benign	Het
Serpina1d	A	T	12: 103,765,757	L281Q	probably damaging	Het
Serpina9	T	C	12: 104,001,470	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,577,559	K57E	probably damaging	Het
Sh3bgrl3	A	T	4: 134,128,036	I33N	probably damaging	Het
Sik3	T	C	9: 46,208,740	M659T	possibly damaging	Het
Sppl3	T	A	5: 115,088,994		probably benign	Het
Tacc2	C	A	7: 130,621,875	Q116K	probably damaging	Het
Tecta	T	C	9: 42,352,063	D1409G	probably damaging	Het
Tnpo3	A	G	6: 29,568,922	V477A	possibly damaging	Het
Trim7	G	T	11: 48,849,712	R212L	probably damaging	Het
Trpm6	T	A	19: 18,832,593	C1118S	probably benign	Het
Ugcg	G	C	4: 59,217,036	V187L	possibly damaging	Het
Vmn1r27	A	G	6: 58,215,719	F100S	possibly damaging	Het
Zbtb18	A	G	1: 177,448,157	E361G	probably benign	Het
Zzef1	T	C	11: 72,821,851	V199A	probably benign	Het

Other mutations in Mpdz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Mpdz	APN	4	81310224	nonsense	probably null
IGL00325:Mpdz	APN	4	81317631	missense	probably damaging	1.00
IGL00497:Mpdz	APN	4	81335742	missense	probably benign	0.30
IGL00502:Mpdz	APN	4	81369723	missense	probably damaging	1.00
IGL00539:Mpdz	APN	4	81361351	missense	possibly damaging	0.83
IGL00938:Mpdz	APN	4	81292512	missense	probably damaging	1.00
IGL00990:Mpdz	APN	4	81303584	splice site	probably benign
IGL01394:Mpdz	APN	4	81292491	missense	possibly damaging	0.92
IGL01537:Mpdz	APN	4	81369658	missense	probably damaging	0.98
IGL01558:Mpdz	APN	4	81295530	nonsense	probably null
IGL01561:Mpdz	APN	4	81284614	missense	probably damaging	1.00
IGL01649:Mpdz	APN	4	81303633	missense	probably damaging	0.98
IGL01743:Mpdz	APN	4	81317682	missense	probably damaging	1.00
IGL01941:Mpdz	APN	4	81286387	missense	possibly damaging	0.91
IGL01969:Mpdz	APN	4	81358724	missense	probably damaging	0.98
IGL02023:Mpdz	APN	4	81329529	missense	probably damaging	0.99
IGL02081:Mpdz	APN	4	81335869	missense	probably damaging	1.00
IGL02304:Mpdz	APN	4	81310157	missense	possibly damaging	0.78
IGL02304:Mpdz	APN	4	81297559	splice site	probably benign
IGL02410:Mpdz	APN	4	81297493	missense	probably benign	0.13
IGL02449:Mpdz	APN	4	81329422	splice site	probably null
IGL02671:Mpdz	APN	4	81290273	missense	probably damaging	1.00
IGL02708:Mpdz	APN	4	81284571	splice site	probably null
IGL02718:Mpdz	APN	4	81385202	missense	probably damaging	1.00
IGL03065:Mpdz	APN	4	81292565	missense	probably damaging	0.98
IGL03378:Mpdz	APN	4	81419048	splice site	probably benign
PIT4458001:Mpdz	UTSW	4	81419026	missense	probably damaging	1.00
R0108:Mpdz	UTSW	4	81381805	missense	probably damaging	1.00
R0108:Mpdz	UTSW	4	81381805	missense	probably damaging	1.00
R0402:Mpdz	UTSW	4	81361440	missense	possibly damaging	0.51
R0499:Mpdz	UTSW	4	81292531	missense	probably benign	0.44
R0718:Mpdz	UTSW	4	81292473	missense	possibly damaging	0.79
R0844:Mpdz	UTSW	4	81421194	start gained	probably benign
R0883:Mpdz	UTSW	4	81359991	splice site	probably benign
R0885:Mpdz	UTSW	4	81369592	missense	probably benign	0.04
R1344:Mpdz	UTSW	4	81308319	missense	probably benign	0.01
R1432:Mpdz	UTSW	4	81292551	missense	probably damaging	1.00
R1488:Mpdz	UTSW	4	81348708	nonsense	probably null
R1589:Mpdz	UTSW	4	81421176	missense	probably benign	0.00
R1756:Mpdz	UTSW	4	81306877	missense	possibly damaging	0.87
R1940:Mpdz	UTSW	4	81361443	missense	probably benign	0.01
R2068:Mpdz	UTSW	4	81335830	missense	probably null	1.00
R2182:Mpdz	UTSW	4	81348722	missense	probably damaging	1.00
R2213:Mpdz	UTSW	4	81310172	missense	probably damaging	0.99
R2265:Mpdz	UTSW	4	81383391	missense	probably damaging	1.00
R2268:Mpdz	UTSW	4	81383391	missense	probably damaging	1.00
R2269:Mpdz	UTSW	4	81383391	missense	probably damaging	1.00
R3082:Mpdz	UTSW	4	81285458	splice site	probably benign
R3746:Mpdz	UTSW	4	81363147	missense	probably damaging	1.00
R3902:Mpdz	UTSW	4	81307116	missense	probably damaging	1.00
R4095:Mpdz	UTSW	4	81383823	missense	possibly damaging	0.77
R4097:Mpdz	UTSW	4	81335700	missense	probably damaging	1.00
R4206:Mpdz	UTSW	4	81381762	missense	probably benign	0.13
R4675:Mpdz	UTSW	4	81383812	missense	probably damaging	0.98
R4884:Mpdz	UTSW	4	81361476	missense	probably damaging	0.97
R5044:Mpdz	UTSW	4	81381697	missense	probably benign	0.16
R5050:Mpdz	UTSW	4	81295448	missense	probably benign	0.00
R5243:Mpdz	UTSW	4	81306879	missense	probably damaging	1.00
R5332:Mpdz	UTSW	4	81292580	missense	probably damaging	1.00
R5435:Mpdz	UTSW	4	81283487	intron	probably benign
R5720:Mpdz	UTSW	4	81287694	missense	probably damaging	0.99
R5743:Mpdz	UTSW	4	81421188	start codon destroyed	probably null	0.30
R5764:Mpdz	UTSW	4	81356446	missense	probably benign	0.13
R5876:Mpdz	UTSW	4	81285474	nonsense	probably null
R5938:Mpdz	UTSW	4	81284614	missense	probably damaging	1.00
R5988:Mpdz	UTSW	4	81284575	critical splice donor site	probably null
R6125:Mpdz	UTSW	4	81297527	missense	probably benign	0.00
R6178:Mpdz	UTSW	4	81308365	missense	probably damaging	1.00
R6235:Mpdz	UTSW	4	81385281	missense	probably damaging	1.00
R6293:Mpdz	UTSW	4	81360056	missense	probably damaging	1.00
R6387:Mpdz	UTSW	4	81381709	missense	possibly damaging	0.69
R6488:Mpdz	UTSW	4	81287733	missense	probably benign	0.11
R6536:Mpdz	UTSW	4	81383417	missense	probably damaging	1.00
R6673:Mpdz	UTSW	4	81356430	missense	probably benign	0.11
R6879:Mpdz	UTSW	4	81348656	missense	possibly damaging	0.81
R7180:Mpdz	UTSW	4	81335751	missense	probably damaging	0.98
R7199:Mpdz	UTSW	4	81297333	missense	probably damaging	0.98
R7209:Mpdz	UTSW	4	81306877	missense	possibly damaging	0.87
R7309:Mpdz	UTSW	4	81381958	splice site	probably null
R7359:Mpdz	UTSW	4	81356395	missense	probably benign	0.01
R7561:Mpdz	UTSW	4	81307151	missense	probably damaging	0.99
R7565:Mpdz	UTSW	4	81303654	missense	probably benign	0.01
R7738:Mpdz	UTSW	4	81335749	missense	probably benign	0.01
R7941:Mpdz	UTSW	4	81282750	missense	probably benign	0.04
R8074:Mpdz	UTSW	4	81349087	missense	probably benign	0.00
RF013:Mpdz	UTSW	4	81293592	missense	possibly damaging	0.60
X0011:Mpdz	UTSW	4	81292759	critical splice donor site	probably null
Z1177:Mpdz	UTSW	4	81320490	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTATGCGGTCTACAAGGGCAGAAC -3'
(R):5'- CCAAGGGTGGTGAGCTTTTCTTCC -3'

Sequencing Primer
(F):5'- CTAGTGATACCTTCAATTAAGGTGAC -3'
(R):5'- GTGAGCTTTTCTTCCTTCGTC -3'

Posted On

2013-04-11