Mutagenetix > Incidental Mutation

Incidental Mutation 'R5938:Mpdz'

462362

Institutional Source

Beutler Lab

Gene Symbol

Mpdz

Ensembl Gene

ENSMUSG00000028402

Gene Name

multiple PDZ domain crumbs cell polarity complex component

Synonyms

MUPP1, B930003D11Rik, multiple PDZ domain protein

MMRRC Submission

044131-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5938 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81196737-81361052 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81202851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1882 (H1882L)

Ref Sequence

ENSEMBL: ENSMUSP00000102883 (fasta)

Gene Model

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

AlphaFold

Q8VBX6

Predicted Effect

probably damaging
Transcript: ENSMUST00000102830
AA Change: H1881L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099894
Gene: ENSMUSG00000028402
AA Change: H1881L

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: H1848L

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

SMART Domains

Protein: ENSMUSP00000102879
Gene: ENSMUSG00000028402
AA Change: H1848L

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: H1882L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102883
Gene: ENSMUSG00000028402
AA Change: H1882L

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: ENSMUST00000131418

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: H321L

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116830
Gene: ENSMUSG00000028402
AA Change: H321L

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: ENSMUST00000156441

Predicted Effect

probably damaging
Transcript: ENSMUST00000220807
AA Change: H1895L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.2760

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

94% (63/67)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	A	C	11: 84,333,400 (GRCm39)	D503E	possibly damaging	Het
Bsn	C	T	9: 107,990,208 (GRCm39)	R1848Q	possibly damaging	Het
Cacna1d	C	T	14: 29,825,692 (GRCm39)	V1001I	probably damaging	Het
Calhm3	T	C	19: 47,140,516 (GRCm39)	I192M	probably damaging	Het
Cep44	A	G	8: 57,000,457 (GRCm39)	S19P	possibly damaging	Het
Cxcl15	T	A	5: 90,949,225 (GRCm39)	I130K	unknown	Het
Cxcl3	C	T	5: 90,934,175 (GRCm39)		probably benign	Het
Emc1	T	G	4: 139,084,931 (GRCm39)	H167Q	probably benign	Het
Epb41l3	T	G	17: 69,566,066 (GRCm39)	Y416D	probably damaging	Het
Erbb2	G	A	11: 98,326,397 (GRCm39)	R1007H	probably damaging	Het
Esr1	A	G	10: 4,916,245 (GRCm39)		probably benign	Het
Fat4	G	A	3: 39,005,388 (GRCm39)	R1929Q	probably damaging	Het
Fsip2	T	A	2: 82,807,835 (GRCm39)	C1385S	probably benign	Het
Gbf1	T	C	19: 46,256,891 (GRCm39)	I777T	probably damaging	Het
Gm16092	T	G	1: 85,440,689 (GRCm39)		noncoding transcript	Het
Greb1	T	A	12: 16,767,259 (GRCm39)	K314N	probably damaging	Het
Iigp1c	C	A	18: 60,378,724 (GRCm39)	N86K	probably damaging	Het
Ipcef1	A	G	10: 6,858,029 (GRCm39)		probably benign	Het
Iqank1	G	A	15: 75,917,281 (GRCm39)	E305K	possibly damaging	Het
Mgat4a	C	A	1: 37,491,344 (GRCm39)	L292F	probably damaging	Het
Mill1	A	G	7: 17,996,613 (GRCm39)	N143S	probably benign	Het
Mindy1	A	G	3: 95,201,067 (GRCm39)	T324A	probably benign	Het
Ncapg2	T	A	12: 116,393,277 (GRCm39)	W494R	probably damaging	Het
Oas1c	A	T	5: 120,943,598 (GRCm39)	H180Q	probably benign	Het
Or2q1	T	A	6: 42,794,701 (GRCm39)	C99S	probably damaging	Het
Or4c108	T	C	2: 88,803,357 (GRCm39)	M293V	probably benign	Het
Or4k49	A	G	2: 111,494,708 (GRCm39)	M46V	probably benign	Het
Or5ak20	A	T	2: 85,183,620 (GRCm39)	S217T	probably damaging	Het
Or6c88	A	G	10: 129,407,396 (GRCm39)	R291G	probably damaging	Het
Pelp1	A	G	11: 70,285,693 (GRCm39)	V725A	probably damaging	Het
Plxna4	T	C	6: 32,211,541 (GRCm39)	E666G	probably benign	Het
Pprc1	ATCCTCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTC	19: 46,059,755 (GRCm39)		probably benign	Het
Prdm16	T	C	4: 154,432,411 (GRCm39)	D285G	probably damaging	Het
Rasa2	A	G	9: 96,493,442 (GRCm39)	S81P	possibly damaging	Het
Rhd	T	A	4: 134,623,287 (GRCm39)	F418Y	probably benign	Het
Rnf207	T	C	4: 152,402,385 (GRCm39)		probably benign	Het
Rsf1	C	T	7: 97,334,766 (GRCm39)	R1300C	probably damaging	Het
Ryr1	A	C	7: 28,746,290 (GRCm39)	L3830R	probably damaging	Het
Sgsh	A	G	11: 119,237,625 (GRCm39)	Y330H	probably benign	Het
Sh3bp5	T	C	14: 31,109,791 (GRCm39)	E130G	possibly damaging	Het
Slc29a3	A	G	10: 60,588,563 (GRCm39)		probably benign	Het
Slco1a5	A	G	6: 142,194,443 (GRCm39)	L400P	probably damaging	Het
Snd1	A	G	6: 28,874,858 (GRCm39)		probably null	Het
Sox15	C	T	11: 69,546,556 (GRCm39)	R120C	probably damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Tas2r110	A	T	6: 132,845,016 (GRCm39)	I16L	probably benign	Het
Tmx3	T	A	18: 90,546,058 (GRCm39)	V213D	possibly damaging	Het
Uba2	A	T	7: 33,864,915 (GRCm39)		probably null	Het
Wfikkn1	T	A	17: 26,097,886 (GRCm39)	D112V	probably damaging	Het
Zfhx4	A	G	3: 5,467,198 (GRCm39)	N2452S	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
IGL01394:Mpdz	APN	4	81,210,728 (GRCm39)	missense	possibly damaging	0.92
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
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

Predicted Primers

PCR Primer
(F):5'- ATCCATGACTTGGCTTGCTG -3'
(R):5'- TCCCTTAAGTCCCTATGTCAAATG -3'

Sequencing Primer
(F):5'- CCATGACTTGGCTTGCTGTTTAAAG -3'
(R):5'- CTCATACCTAGAGGATCCTAATTAGC -3'

Posted On

2017-02-28