Mutagenetix > Incidental Mutation

Incidental Mutation 'R6879:Mpdz'

536550

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

044975-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6879 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81196737-81361052 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 81266893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 340 (T340I)

Ref Sequence

ENSEMBL: ENSMUSP00000118283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102830] [ENSMUST00000107258] [ENSMUST00000107262] [ENSMUST00000141995] [ENSMUST00000220807]

AlphaFold

Q8VBX6

Predicted Effect

probably benign
Transcript: ENSMUST00000102830
AA Change: T998I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000099894
Gene: ENSMUSG00000028402
AA Change: T998I

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: T998I

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000102879
Gene: ENSMUSG00000028402
AA Change: T998I

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: T998I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000102883
Gene: ENSMUSG00000028402
AA Change: T998I

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

possibly damaging
Transcript: ENSMUST00000141995
AA Change: T340I

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118283
Gene: ENSMUSG00000028402
AA Change: T340I

Domain	Start	End	E-Value	Type
PDZ	82	161	9.94e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220807
AA Change: T998I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (42/42)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat3	A	G	10: 80,442,621 (GRCm39)	D153G	probably damaging	Het
Agap1	A	T	1: 89,694,177 (GRCm39)	I492F	probably benign	Het
Arhgap31	G	A	16: 38,422,676 (GRCm39)	T1130I	probably benign	Het
Atg2a	T	A	19: 6,301,882 (GRCm39)	C923S	possibly damaging	Het
B3gnt8	C	A	7: 25,328,277 (GRCm39)	Q236K	probably benign	Het
Bptf	T	G	11: 106,933,516 (GRCm39)	I261L	probably benign	Het
Cacna1s	T	C	1: 136,043,697 (GRCm39)	F1592S	probably benign	Het
Catspere2	A	T	1: 177,926,338 (GRCm39)	T335S	possibly damaging	Het
Cops7a	A	T	6: 124,935,748 (GRCm39)		probably null	Het
Defb10	A	G	8: 22,351,898 (GRCm39)	I48V	probably benign	Het
Gabrg3	A	C	7: 57,031,387 (GRCm39)	L51R	probably damaging	Het
Gins2	G	A	8: 121,312,850 (GRCm39)	T96M	probably damaging	Het
Gm11568	A	G	11: 99,749,053 (GRCm39)	Q86R	unknown	Het
Il33	T	C	19: 29,936,362 (GRCm39)	V224A	probably damaging	Het
Kcnh3	C	A	15: 99,136,048 (GRCm39)	Q682K	probably damaging	Het
Kif19a	A	G	11: 114,672,159 (GRCm39)	I249V	probably benign	Het
Kif26a	T	C	12: 112,144,087 (GRCm39)	V1447A	probably benign	Het
Klhdc10	T	A	6: 30,449,589 (GRCm39)	M217K	probably damaging	Het
Mcc	T	C	18: 44,945,179 (GRCm39)	S18G	unknown	Het
Mical1	A	T	10: 41,360,515 (GRCm39)	Q651H	probably damaging	Het
Or5b95	T	C	19: 12,658,135 (GRCm39)	I221T	probably benign	Het
Or6c202	T	G	10: 128,996,848 (GRCm39)	K2Q	probably benign	Het
Pira12	A	T	7: 3,899,961 (GRCm39)	S214T	probably benign	Het
Plekha6	A	T	1: 133,187,793 (GRCm39)	M105L	possibly damaging	Het
Ppp4r4	T	A	12: 103,518,179 (GRCm39)		probably null	Het
Samd12	T	C	15: 53,521,826 (GRCm39)	N128S	probably benign	Het
Six6	A	G	12: 72,987,298 (GRCm39)	K157E	probably benign	Het
Slc13a3	C	A	2: 165,272,221 (GRCm39)	G274V	probably damaging	Het
Slc25a54	T	A	3: 109,020,150 (GRCm39)	V388E	possibly damaging	Het
Smad2	A	G	18: 76,395,725 (GRCm39)	T55A	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spats2	T	C	15: 99,071,293 (GRCm39)	V39A	probably damaging	Het
Stk32b	A	G	5: 37,647,867 (GRCm39)	I167T	possibly damaging	Het
Taf1b	T	A	12: 24,550,516 (GRCm39)	C34S	possibly damaging	Het
Tex2	T	C	11: 106,424,836 (GRCm39)	E812G	unknown	Het
Tlcd2	T	A	11: 75,360,514 (GRCm39)	W186R	probably damaging	Het
Txn2	G	A	15: 77,803,922 (GRCm39)		probably benign	Het
Uggt2	T	C	14: 119,239,271 (GRCm39)	K1387R	probably benign	Het
Unc79	T	A	12: 103,115,046 (GRCm39)		probably null	Het
Usp21	T	C	1: 171,110,077 (GRCm39)	D538G	probably damaging	Het
Zfp109	C	T	7: 23,928,615 (GRCm39)	E265K	probably benign	Het
Zfp263	A	G	16: 3,567,719 (GRCm39)	H390R	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
R5938:Mpdz	UTSW	4	81,202,851 (GRCm39)	missense	probably damaging	1.00
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
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'- CCTGGCAGGTGTTAGTCTTC -3'
(R):5'- AGGGAGCATGTGCAATGTTG -3'

Sequencing Primer
(F):5'- TGATTTGCTACTTTACACACACACAC -3'
(R):5'- GTGCAATGTTGAAATGACTGCTCC -3'

Posted On

2018-10-18