Mutagenetix > Incidental Mutation

Incidental Mutation 'R9722:Mpdz'

730836

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9722 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81196737-81361052 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81304504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 132 (Q132R)

Ref Sequence

ENSEMBL: ENSMUSP00000102879 (fasta)

Gene Model

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

AlphaFold

Q8VBX6

Predicted Effect

probably benign
Transcript: ENSMUST00000102830
AA Change: Q132R

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099894
Gene: ENSMUSG00000028402
AA Change: Q132R

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 damaging
Transcript: ENSMUST00000107258
AA Change: Q132R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102879
Gene: ENSMUSG00000028402
AA Change: Q132R

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: Q132R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102883
Gene: ENSMUSG00000028402
AA Change: Q132R

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: ENSMUST00000220807
AA Change: Q132R

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,094,269 (GRCm39)	I52F	probably benign	Het
Abcc3	A	T	11: 94,250,072 (GRCm39)	L1017Q	probably damaging	Het
Antxr2	T	C	5: 98,096,186 (GRCm39)	D366G	possibly damaging	Het
Astn2	C	T	4: 65,831,978 (GRCm39)	V563I	probably benign	Het
Atrn	C	A	2: 130,803,536 (GRCm39)	D575E	probably damaging	Het
Baz1a	C	T	12: 54,946,882 (GRCm39)	D1228N	probably benign	Het
Canx	A	G	11: 50,195,301 (GRCm39)	S256P	probably benign	Het
Ccnt2	T	A	1: 127,729,925 (GRCm39)	D267E	probably damaging	Het
Cd209c	G	T	8: 3,995,905 (GRCm39)	R2S	probably benign	Het
Cyfip2	T	C	11: 46,087,135 (GRCm39)	T1252A	probably benign	Het
Dchs2	A	G	3: 83,261,301 (GRCm39)	Y2523C	probably benign	Het
Dmxl2	G	A	9: 54,323,892 (GRCm39)	P990L	probably benign	Het
Dnajc9	T	C	14: 20,438,279 (GRCm39)	I108V	probably benign	Het
Eif2d	T	C	1: 131,092,948 (GRCm39)		probably null	Het
Ephb2	T	C	4: 136,384,768 (GRCm39)	D881G	probably damaging	Het
Esr1	A	G	10: 4,951,215 (GRCm39)	N531S	probably benign	Het
Fbxo2	G	A	4: 148,248,883 (GRCm39)	R125H	probably damaging	Het
Foxred1	C	T	9: 35,117,300 (GRCm39)	S277N	possibly damaging	Het
Gemin5	T	C	11: 58,041,418 (GRCm39)	E518G	probably damaging	Het
Gm17655	A	G	5: 110,194,226 (GRCm39)	Y519H	probably benign	Het
Igkv4-57-1	A	T	6: 69,521,493 (GRCm39)	W70R	probably damaging	Het
Krtap4-13	A	G	11: 99,700,180 (GRCm39)	S160P	unknown	Het
Map3k3	A	G	11: 106,033,361 (GRCm39)	I205V	possibly damaging	Het
Map3k4	A	C	17: 12,490,523 (GRCm39)	F303V	probably benign	Het
Myo10	T	A	15: 25,801,227 (GRCm39)	V1472E	probably damaging	Het
Nckap1	G	A	2: 80,401,568 (GRCm39)	Q39*	probably null	Het
Nog	A	G	11: 89,192,396 (GRCm39)	S151P	probably damaging	Het
Obox6	G	A	7: 15,568,831 (GRCm39)	S15F	probably benign	Het
Odf2	A	G	2: 29,813,594 (GRCm39)	H647R	possibly damaging	Het
Or6c74	A	G	10: 129,869,500 (GRCm39)	R2G	probably benign	Het
Pcdhga11	T	C	18: 37,890,398 (GRCm39)	S469P	possibly damaging	Het
Pcnx4	T	C	12: 72,603,039 (GRCm39)	Y434H	probably damaging	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Pglyrp3	A	G	3: 91,938,695 (GRCm39)	K290R	possibly damaging	Het
Phactr3	G	A	2: 177,898,043 (GRCm39)	E86K	probably damaging	Het
Piezo1	A	C	8: 123,225,497 (GRCm39)	L530R		Het
Pigg	A	T	5: 108,495,767 (GRCm39)	I935F	possibly damaging	Het
Pofut2	T	C	10: 77,102,759 (GRCm39)	S282P	possibly damaging	Het
Ppfia1	A	G	7: 144,071,402 (GRCm39)	S337P	probably benign	Het
Sdr16c5	A	T	4: 4,005,595 (GRCm39)	D246E	probably benign	Het
Sgsm1	T	A	5: 113,428,207 (GRCm39)	H327L	possibly damaging	Het
Slc39a4	A	G	15: 76,500,211 (GRCm39)	I113T	possibly damaging	Het
Slc5a7	A	G	17: 54,603,985 (GRCm39)		probably null	Het
Snx11	A	G	11: 96,661,925 (GRCm39)	S86P	probably benign	Het
Srm	T	A	4: 148,676,245 (GRCm39)		probably null	Het
Tas2r126	T	C	6: 42,412,082 (GRCm39)	I205T	possibly damaging	Het
Tek	T	G	4: 94,692,539 (GRCm39)	W216G	possibly damaging	Het
Tenm3	A	T	8: 48,753,849 (GRCm39)	S851R	probably benign	Het
Tnip2	A	G	5: 34,654,212 (GRCm39)	V288A	probably benign	Het
Tpx2	T	A	2: 152,733,476 (GRCm39)		probably null	Het
Trim33	C	A	3: 103,261,146 (GRCm39)	T1115K	possibly damaging	Het
Tspan13	T	A	12: 36,074,017 (GRCm39)	I40F	probably damaging	Het
Ube2v2	T	C	16: 15,394,899 (GRCm39)	I91V	probably benign	Het
Vmn1r22	A	T	6: 57,877,631 (GRCm39)	F115L	probably benign	Het
Vmn2r7	G	A	3: 64,598,407 (GRCm39)	P717S	probably damaging	Het
Zan	T	C	5: 137,387,324 (GRCm39)	T4910A	unknown	Het
Zfp599	T	A	9: 22,160,741 (GRCm39)	T475S	probably damaging	Het
Zfp638	T	A	6: 83,923,301 (GRCm39)	F700I	probably damaging	Het
Zfp985	A	C	4: 147,667,618 (GRCm39)	K162T	possibly 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
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
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'- CCCAACATGTGTATGTGTGTACG -3'
(R):5'- AACTGCAGCTGCTGACCATG -3'

Sequencing Primer
(F):5'- GACCATTAAATTGAAAGCATTTGGC -3'
(R):5'- AGCTGCTGACCATGCCCAC -3'

Posted On

2022-10-06