Mutagenetix > Incidental Mutations

Incidental Mutation 'RF013:Mpdz'

603320

Institutional Source

Beutler Lab

Gene Symbol

Mpdz

Ensembl Gene

ENSMUSG00000028402

Gene Name

multiple PDZ domain protein

Synonyms

B930003D11Rik, MUPP1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF013 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81278500-81442815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 81293592 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1566 (A1566V)

Ref Sequence

ENSEMBL: ENSMUSP00000102879 (fasta)

Gene Model

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

AlphaFold

Q8VBX6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102830
AA Change: A1599V

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099894
Gene: ENSMUSG00000028402
AA Change: A1599V

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

possibly damaging
Transcript: ENSMUST00000107258
AA Change: A1566V

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102879
Gene: ENSMUSG00000028402
AA Change: A1566V

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: A1600V

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000102883
Gene: ENSMUSG00000028402
AA Change: A1600V

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

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: A67V

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000116830
Gene: ENSMUSG00000028402
AA Change: A67V

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

possibly damaging
Transcript: ENSMUST00000220807
AA Change: A1613V

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	A	G	19: 58,789,294	F28S	probably damaging	Het
4930435E12Rik	T	C	16: 38,828,001	T249A	probably benign	Het
4932438A13Rik	TTAT	TTATTATTATTATTAGTAT	3: 37,050,757		probably benign	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,905,096		probably benign	Het
Adamts9	A	G	6: 92,943,145	V4A	possibly damaging	Het
AI837181	GGC	GGCTGC	19: 5,425,232		probably benign	Het
Alk	A	G	17: 71,895,936	Y1135H	probably damaging	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,560,926		probably benign	Het
Ano3	A	C	2: 110,697,036	L609R	probably benign	Het
Bicc1	A	G	10: 70,935,830		probably null	Het
Card6	T	C	15: 5,100,142	I591V	probably benign	Het
Ccdc18	A	G	5: 108,220,716	N1235D	probably benign	Het
Cd109	TTAT	TTATTTATTTATCTAT	9: 78,712,531		probably benign	Het
Cnpy3	CCT	CCTGCT	17: 46,736,744		probably benign	Het
Col6a5	GCAGTC	GCAGTCTCCAGTC	9: 105,878,597		probably null	Het
Cyb5r4	GACACACTGCCCAGGGA	GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA	9: 87,040,432		probably benign	Het
Cyp8b1	A	T	9: 121,915,495	M257K	possibly damaging	Het
Dbf4	A	T	5: 8,397,985	H408Q	possibly damaging	Het
Defb22	TTGCGGCA	TTGCGGCAGAGCTGGCCTGTGCGGCA	2: 152,485,831		probably benign	Het
Ercc6l2	A	T	13: 63,853,017	T417S	probably benign	Het
Exd2	AGCCACAG	A	12: 80,475,932		probably null	Het
Fam171b	GC	GCAGCATC	2: 83,812,895		probably benign	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA	7: 44,500,520		probably null	Het
Flvcr2	T	A	12: 85,747,186	L112Q	probably damaging	Het
Flywch1	GTG	GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG	17: 23,762,175		probably null	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 72,270,416		probably benign	Het
Gm4884	C	A	7: 41,040,809	P43Q	probably damaging	Het
Gm6588	T	A	5: 112,450,071	N161K	probably benign	Het
Grm8	A	G	6: 27,363,780	W579R	probably damaging	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCCG	4: 59,610,657		probably benign	Het
Ivl	CTGCTGCTGCTGCTGT	C	3: 92,572,343		probably benign	Het
Kif18b	T	C	11: 102,912,366	D506G	probably benign	Het
Krtap28-10	AGCCAC	AGCCACGGCCAC	1: 83,042,135		probably benign	Het
Krtap28-10	GCCACAGCCACCACA	GCCACAGCCACCACATCCACAGCCACCACA	1: 83,042,274		probably benign	Het
Lama1	C	A	17: 67,781,062	S1558R		Het
Lcmt1	C	CCGCGGGGCTT	7: 123,369,836		probably null	Het
Lmna	A	G	3: 88,484,054	V494A	probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,388,260		probably null	Het
Mboat7	T	A	7: 3,691,857	H52L	probably damaging	Het
Med12l	CAG	CAGAAG	3: 59,275,966		probably benign	Het
Morc2a	T	A	11: 3,676,191	M225K	probably benign	Het
Mpi	T	C	9: 57,548,641	D186G	probably benign	Het
Mtmr12	C	A	15: 12,261,898	N386K	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356		probably null	Het
Myo10	T	A	15: 25,799,479	M1376K	probably damaging	Het
Nbas	C	T	12: 13,279,408	T118I	possibly damaging	Het
Nedd4l	C	T	18: 65,209,680	R755C	probably damaging	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,941,032		probably benign	Het
Numa1	T	C	7: 101,999,780	L906P	probably damaging	Het
Olfr750	G	A	14: 51,071,012	A127V	probably damaging	Het
Olfr871	T	C	9: 20,212,894	S182P	probably benign	Het
Otop2	G	T	11: 115,323,666	R83L	probably benign	Het
Pmm1	T	A	15: 81,957,813	Q62L	probably damaging	Het
Pramef25	C	G	4: 143,948,908	Q449H	probably damaging	Het
Ptprj	A	T	2: 90,471,170	L206*	probably null	Het
Rassf6	TC	TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC	5: 90,608,941		probably benign	Het
Rps19	A	AGAAAAT	7: 24,889,180		probably benign	Het
Rsrp1	T	A	4: 134,923,955	V10E	unknown	Het
Sh2d6	C	T	6: 72,516,388		probably null	Het
Six4	TG	T	12: 73,103,582		probably null	Het
Slc6a15	T	A	10: 103,400,216	V264D	probably damaging	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,182,211		probably benign	Het
Sost	A	T	11: 101,964,132	I117N	probably damaging	Het
Tbc1d22a	AGGTGTGTG	A	15: 86,299,774		probably null	Het
Tcaf1	C	T	6: 42,679,173	V290I	probably benign	Het
Tcof1	GCA	GCACCA	18: 60,835,743		probably benign	Het
Tgfbr1	A	G	4: 47,353,354	I15V	unknown	Het
Tmem241	A	T	18: 11,983,561	L288Q	probably damaging	Het
Tnfrsf13b	T	G	11: 61,141,444	V100G	probably benign	Het
Trim66	A	G	7: 109,460,753	S809P	probably damaging	Het
Tubb4a	C	G	17: 57,087,464	G17A	possibly damaging	Het
Txndc16	A	G	14: 45,169,338	V220A	probably benign	Het
Zan	T	A	5: 137,391,720	Q4830L	unknown	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
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
R8957:Mpdz	UTSW	4	81332979	nonsense	probably null
R8998:Mpdz	UTSW	4	81284645	nonsense	probably null
R8999:Mpdz	UTSW	4	81284645	nonsense	probably null
R9001:Mpdz	UTSW	4	81381762	missense	probably benign
R9223:Mpdz	UTSW	4	81284630	missense	probably damaging	1.00
R9415:Mpdz	UTSW	4	81317668	nonsense	probably null
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'- TGCAAATCTCCTCCTCATGG -3'
(R):5'- TAGCCCCTAGTTTAATGATGGAG -3'

Sequencing Primer
(F):5'- CTCATGGTCTCTTGGGGCAC -3'
(R):5'- CCCCTAGTTTAATGATGGAGAAGTAG -3'

Posted On

2019-12-04