Mutagenetix > Incidental Mutations

Incidental Mutation 'R5050:Mpdz'

394586

Institutional Source

Beutler Lab

Gene Symbol

Mpdz

Ensembl Gene

ENSMUSG00000028402

Gene Name

multiple PDZ domain protein

Synonyms

B930003D11Rik, MUPP1

MMRRC Submission

042640-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5050 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81278500-81442815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81295448 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1579 (V1579A)

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: V1578A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099894
Gene: ENSMUSG00000028402
AA Change: V1578A

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: V1545A

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

SMART Domains

Protein: ENSMUSP00000102879
Gene: ENSMUSG00000028402
AA Change: V1545A

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: V1579A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000102883
Gene: ENSMUSG00000028402
AA Change: V1579A

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: ENSMUST00000129732

Predicted Effect

probably benign
Transcript: ENSMUST00000131547

SMART Domains

Protein: ENSMUSP00000116767
Gene: ENSMUSG00000028402

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: V46A

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

SMART Domains

Protein: ENSMUSP00000116830
Gene: ENSMUSG00000028402
AA Change: V46A

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: V1592A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0639

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.6%

Validation Efficiency

100% (69/69)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 9,012,458		probably benign	Het
Ap3m1	A	G	14: 21,044,775	I108T	probably benign	Het
Apobec1	T	C	6: 122,591,102	M1V	probably null	Het
Aqr	A	T	2: 114,112,609	L1161*	probably null	Het
Aqr	A	T	2: 114,170,025		probably null	Het
Arhgef37	A	G	18: 61,504,331	I420T	probably benign	Het
Cacna1g	C	T	11: 94,459,715	E435K	probably damaging	Het
Card6	G	T	15: 5,100,376	H513N	probably benign	Het
Ccdc158	A	C	5: 92,666,879	F29L	probably benign	Het
Ccr6	T	C	17: 8,256,104	L47S	probably damaging	Het
Cdc42bpa	T	A	1: 180,072,453	Y444*	probably null	Het
Cdh17	A	G	4: 11,784,654	Y270C	probably damaging	Het
Cdh9	T	C	15: 16,778,147	F16S	probably benign	Het
Cdkl1	T	C	12: 69,757,240	K141R	probably damaging	Het
Chd4	T	C	6: 125,107,480	Y692H	probably damaging	Het
Dhrs7	T	A	12: 72,657,410	D104V	probably damaging	Het
Dhtkd1	A	T	2: 5,917,689	L553Q	probably benign	Het
Dnah7a	T	G	1: 53,497,096	D2596A	probably benign	Het
Dync1li2	T	C	8: 104,437,441	K151E	probably damaging	Het
Eno4	C	T	19: 58,955,496	H297Y	probably benign	Het
Epg5	T	A	18: 77,975,941	D976E	possibly damaging	Het
Fam160b1	T	A	19: 57,383,170	F571L	probably damaging	Het
Gm1966	T	C	7: 106,596,972		noncoding transcript	Het
Gm4553	C	A	7: 142,165,036	K218N	unknown	Het
Gm4788	T	A	1: 139,736,840	I494F	probably damaging	Het
Gpld1	A	T	13: 24,962,756	T234S	probably benign	Het
Gtpbp6	A	T	5: 110,104,701		probably benign	Het
Gucy2g	T	C	19: 55,240,935	E101G	probably benign	Het
Hira	G	A	16: 18,925,859	R442K	possibly damaging	Het
Hrh3	A	G	2: 180,100,557	L394P	probably damaging	Het
Igkv1-110	T	A	6: 68,271,192	F95Y	probably damaging	Het
Iqgap3	T	G	3: 88,090,186	V223G	probably damaging	Het
Itpk1	T	C	12: 102,704,810	T3A	probably damaging	Het
Jag1	A	G	2: 137,085,154	V895A	possibly damaging	Het
Kazn	G	A	4: 142,118,203		probably benign	Het
Large2	A	T	2: 92,367,779	L282Q	probably benign	Het
Lgmn	A	G	12: 102,403,421		probably null	Het
Lrp4	A	T	2: 91,492,422	I1119F	probably benign	Het
Map3k19	T	C	1: 127,823,562	H684R	probably benign	Het
Mier3	C	T	13: 111,714,573	A367V	possibly damaging	Het
Mroh2b	A	T	15: 4,900,450	D6V	possibly damaging	Het
Myh7b	A	G	2: 155,631,750	I1568V	probably benign	Het
Olfr675	T	A	7: 105,024,387	I198F	probably damaging	Het
Plch2	C	T	4: 155,043,309		probably benign	Het
Plek	T	C	11: 16,995,216	D38G	probably damaging	Het
Polr2f	A	G	15: 79,144,662		probably benign	Het
Samsn1	A	G	16: 75,888,757	S38P	probably benign	Het
Sf1	C	T	19: 6,372,559	T248I	probably damaging	Het
Sgms2	C	T	3: 131,330,356	V232M	probably benign	Het
Sharpin	A	T	15: 76,348,330	L160H	probably damaging	Het
Sympk	C	T	7: 19,036,042	R215C	probably benign	Het
Syn3	T	C	10: 86,407,668	T136A	probably benign	Het
Tcam1	G	A	11: 106,285,452	V335M	possibly damaging	Het
Tedc1	G	T	12: 113,156,705	V56L	possibly damaging	Het
Tenm4	T	C	7: 96,895,788	L2337P	probably damaging	Het
Ttn	G	A	2: 76,884,811		probably benign	Het
Tysnd1	T	A	10: 61,696,271	I234N	probably damaging	Het
Vmn2r51	T	C	7: 10,100,422	K230E	probably damaging	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
R0119:Mpdz	UTSW	4	81292531	missense	probably benign	0.44
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
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	intron	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
RF013:Mpdz	UTSW	4	81293592	missense	possibly damaging	0.60
X0011:Mpdz	UTSW	4	81292759	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GACCACAATTTACTCTGTTGTGC -3'
(R):5'- TGTTCCTGTGCACAGACAAAC -3'

Sequencing Primer
(F):5'- GTGCCCTCTTTTAACCAAAGAC -3'
(R):5'- GCAAAAGAGATTCTAACCATTCTGG -3'

Posted On

2016-06-15