Mutagenetix > Incidental Mutations

Incidental Mutation 'R2068:Mpdz'

226817

Institutional Source

Beutler Lab

Gene Symbol

Mpdz

Ensembl Gene

ENSMUSG00000028402

Gene Name

multiple PDZ domain protein

Synonyms

B930003D11Rik, MUPP1

MMRRC Submission

040073-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2068 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81278500-81442815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 81335830 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 1 (R1W)

Ref Sequence

ENSEMBL: ENSMUSP00000122308 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000102830
AA Change: R1022W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099894
Gene: ENSMUSG00000028402
AA Change: R1022W

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 damaging
Transcript: ENSMUST00000107258
AA Change: R1022W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102879
Gene: ENSMUSG00000028402
AA Change: R1022W

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 damaging
Transcript: ENSMUST00000107262
AA Change: R1022W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102883
Gene: ENSMUSG00000028402
AA Change: R1022W

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 null
Transcript: ENSMUST00000134572
AA Change: R1W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122308
Gene: ENSMUSG00000028402
AA Change: R1W

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 damaging
Transcript: ENSMUST00000220807
AA Change: R1022W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	T	C	11: 76,000,251	S64P	possibly damaging	Het
4933436I01Rik	T	A	X: 67,920,702	I184L	probably benign	Het
Abcb5	A	T	12: 118,940,568	C162*	probably null	Het
Akr1c19	A	T	13: 4,238,392		probably null	Het
Akt3	A	G	1: 177,102,985	S136P	possibly damaging	Het
Alox12e	G	A	11: 70,316,002	R620W	probably damaging	Het
Ascc2	A	T	11: 4,681,496	M646L	probably benign	Het
Bsn	T	G	9: 108,110,684		probably benign	Het
Bsn	T	A	9: 108,126,550	M219L	possibly damaging	Het
Btnl9	T	C	11: 49,169,563	T453A	probably damaging	Het
C6	G	T	15: 4,791,070	C521F	probably damaging	Het
Ccnt1	A	T	15: 98,551,942	H156Q	probably benign	Het
Cdh7	A	T	1: 110,137,936	R647*	probably null	Het
Clptm1l	C	T	13: 73,607,723	Q153*	probably null	Het
Cmya5	T	A	13: 93,090,524	K2685N	possibly damaging	Het
Cnksr2	A	C	X: 157,945,306	S224R	possibly damaging	Het
Cntn1	T	C	15: 92,318,062	V992A	possibly damaging	Het
Dapk1	G	A	13: 60,751,208	D831N	probably damaging	Het
Dnaaf3	T	C	7: 4,523,799	I426M	possibly damaging	Het
Dnah6	A	G	6: 73,021,182	Y4034H	probably benign	Het
Dtx2	C	T	5: 136,030,577	S493F	probably damaging	Het
Ehd1	T	C	19: 6,298,078	L362P	probably benign	Het
Endov	T	C	11: 119,499,582	F12S	probably damaging	Het
Eps8	A	T	6: 137,522,174	W239R	probably benign	Het
Fance	T	C	17: 28,320,825	F83S	possibly damaging	Het
Fn1	A	G	1: 71,600,439	V1731A	probably damaging	Het
Gak	G	T	5: 108,570,225	T1244K	probably benign	Het
Gas8	T	A	8: 123,526,537	I208N	probably damaging	Het
Gm9830	A	T	9: 44,464,282		noncoding transcript	Het
Gm9837	T	A	11: 53,470,265		probably benign	Het
Gtf2f2	A	G	14: 75,917,696	S142P	possibly damaging	Het
Hdac3	C	A	18: 37,943,516	G257V	probably damaging	Het
Heg1	A	G	16: 33,727,590	T916A	probably benign	Het
Herc2	G	T	7: 56,132,497	G1311C	probably damaging	Het
Htt	C	T	5: 34,825,982	T975I	probably benign	Het
Il2rg	A	G	X: 101,267,810	L57P	possibly damaging	Het
Itm2b	T	C	14: 73,363,135	K242E	probably damaging	Het
Itpr3	G	A	17: 27,098,076	M768I	probably benign	Het
Klrg2	G	A	6: 38,636,993	T25I	probably benign	Het
Lcn5	G	A	2: 25,658,041	V21M	probably damaging	Het
Lonp2	A	G	8: 86,665,775	T490A	probably damaging	Het
Lrrn3	A	T	12: 41,452,996	S441T	probably damaging	Het
Mpp4	G	A	1: 59,143,782	P322L	possibly damaging	Het
Mpzl2	G	A	9: 45,043,871		probably null	Het
Naf1	A	G	8: 66,887,780	D414G	probably damaging	Het
Notch3	A	G	17: 32,135,508	C1748R	probably benign	Het
Nup133	C	A	8: 123,914,575	D869Y	probably damaging	Het
Oasl2	A	C	5: 114,911,237	D466A	probably benign	Het
Olfr324	A	G	11: 58,597,570	N58S	probably damaging	Het
Olfr487	T	C	7: 108,212,340	Y63C	probably damaging	Het
Olfr705	T	A	7: 106,714,166	R172W	probably benign	Het
Olfr709-ps1	T	G	7: 106,926,955	Y168S	probably damaging	Het
Olfr970	T	C	9: 39,820,550	F304L	probably benign	Het
Opa3	T	C	7: 19,244,814	I68T	possibly damaging	Het
Pcdh8	A	T	14: 79,768,211	S912R	probably damaging	Het
Pdzrn3	T	C	6: 101,150,699	E1002G	probably damaging	Het
Pik3c2a	A	T	7: 116,372,891	L768*	probably null	Het
Plxna4	A	G	6: 32,517,616	S22P	possibly damaging	Het
Plxnb3	T	A	X: 73,771,751	Y1845*	probably null	Het
Pramef6	T	C	4: 143,896,912	M231V	probably damaging	Het
Prl7a2	T	A	13: 27,660,887	Y172F	probably damaging	Het
Pum1	A	G	4: 130,774,434	T845A	probably benign	Het
Rad21l	T	C	2: 151,668,007	H58R	probably damaging	Het
Rgma	A	C	7: 73,409,631	D161A	probably damaging	Het
Scai	T	C	2: 39,123,013	Y135C	probably damaging	Het
Scn2a	T	A	2: 65,752,073	H1588Q	probably benign	Het
Sdha	A	T	13: 74,323,968		probably null	Het
Slc12a3	A	G	8: 94,345,828	D658G	probably damaging	Het
Slc5a3	A	G	16: 92,077,240	S62G	probably damaging	Het
Spata13	GTTAGGCT	GT	14: 60,760,871		probably benign	Het
Sulf1	A	G	1: 12,840,403	I649V	probably damaging	Het
Thbs1	C	T	2: 118,123,537	Q1090*	probably null	Het
Tjp2	C	A	19: 24,122,323	R400L	probably benign	Het
Tle4	A	T	19: 14,449,749	Y769*	probably null	Het
Trmt5	A	T	12: 73,284,670		probably null	Het
Troap	T	C	15: 99,082,463	L508P	probably benign	Het
Ubac2	T	A	14: 121,908,279	Y116*	probably null	Het
Ugt2b36	T	C	5: 87,092,241	E95G	probably benign	Het
Ush1c	T	C	7: 46,229,481	Y74C	probably damaging	Het
Usp36	T	C	11: 118,275,018	T160A	possibly damaging	Het
Usp54	G	T	14: 20,577,205	P462T	probably damaging	Het
Vmn1r55	A	G	7: 5,147,049	V125A	possibly damaging	Het
Vps11	A	G	9: 44,358,316	S213P	probably damaging	Het
Zfp668	C	T	7: 127,866,665	G449D	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
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
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'- GAATTTCCGAAGACAAACTGGTC -3'
(R):5'- GGCACAGCTATGACTGACAATAAATG -3'

Sequencing Primer
(F):5'- ACTGGTCCAGATAACACTTACTTG -3'
(R):5'- AGAGGGTTTGACAACGCT -3'

Posted On

2014-09-17