Mutagenetix > Incidental Mutation

Incidental Mutation 'R0040:Mpp7'

15441

Institutional Source

Beutler Lab

Gene Symbol

Mpp7

Ensembl Gene

ENSMUSG00000057440

Gene Name

membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)

Synonyms

2810038M04Rik, LOC381166, 1110068J02Rik, 5430426E14Rik

MMRRC Submission

038334-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R0040 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

7347962-7626863 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 7403180 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111535 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115869]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000115869

SMART Domains

Protein: ENSMUSP00000111535
Gene: ENSMUSG00000057440

Domain	Start	End	E-Value	Type
L27	10	68	7.05e-14	SMART
L27	72	125	3.72e-13	SMART
PDZ	147	220	3.8e-15	SMART
SH3	231	297	1.4e-11	SMART
low complexity region	317	328	N/A	INTRINSIC
GuKc	367	563	4.01e-65	SMART

Coding Region Coverage

1x: 84.2%
3x: 77.3%
10x: 61.4%
20x: 43.8%

Validation Efficiency

96% (74/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	G	6: 121,645,206	L356R	possibly damaging	Het
Antxr2	G	A	5: 97,938,425	T441I	possibly damaging	Het
Apcs	A	G	1: 172,894,456	Y108H	probably benign	Het
Arpp21	T	C	9: 112,147,409		probably benign	Het
Atcay	C	T	10: 81,210,519		probably null	Het
Bahcc1	A	G	11: 120,268,370	D141G	probably damaging	Het
Cacng5	A	T	11: 107,884,510	L11Q	probably damaging	Het
Ccdc73	T	C	2: 104,992,084	S793P	probably damaging	Het
Ceacam10	A	G	7: 24,778,264	Y68C	probably damaging	Het
Csmd3	G	A	15: 47,633,816	P3062S	probably damaging	Het
Dctn4	A	G	18: 60,544,042	N145D	possibly damaging	Het
Dusp12	A	G	1: 170,880,657	Y164H	probably damaging	Het
Fat1	A	G	8: 45,026,404	D2829G	probably damaging	Het
Fbxl13	T	C	5: 21,486,373	T671A	probably damaging	Het
Fndc3b	T	A	3: 27,556,117		probably null	Het
Gprc6a	T	A	10: 51,614,984	K819*	probably null	Het
Gucy2g	T	A	19: 55,217,302	T709S	possibly damaging	Het
Gxylt1	A	T	15: 93,254,555		probably benign	Het
Idh2	A	G	7: 80,097,822	S317P	probably damaging	Het
Ifi30	T	C	8: 70,763,776		probably null	Het
Ifna16	G	A	4: 88,676,630	A76V	probably benign	Het
Itpr2	C	T	6: 146,345,140	E1127K	probably damaging	Het
Kank4	A	G	4: 98,779,220	V330A	probably benign	Het
Kri1	T	C	9: 21,281,105	Y131C	probably damaging	Het
Krt71	T	A	15: 101,738,433	H280L	possibly damaging	Het
Lox	A	T	18: 52,520,826	H399Q	possibly damaging	Het
Mapt	A	G	11: 104,305,398	M446V	probably damaging	Het
Mycbp2	A	G	14: 103,224,272	V1447A	probably benign	Het
Myl3	A	C	9: 110,767,929	D119A	probably damaging	Het
Myo1b	A	T	1: 51,781,989	I451N	probably damaging	Het
Nubp1	A	G	16: 10,421,117	T199A	probably damaging	Het
Olfml2b	A	G	1: 170,668,751	H317R	probably benign	Het
Pard3b	A	T	1: 62,637,820	Y1170F	probably damaging	Het
Pear1	T	C	3: 87,754,358	D536G	probably damaging	Het
Pira6	A	G	7: 4,281,483		noncoding transcript	Het
Pkhd1l1	T	A	15: 44,573,625	Y3460N	probably damaging	Het
Plxna2	G	T	1: 194,643,896	R46L	probably benign	Het
Rnf168	T	A	16: 32,278,173		probably null	Het
Rpl14	C	G	9: 120,572,101	F3L	possibly damaging	Het
Scara5	C	T	14: 65,762,717		probably benign	Het
Sh3rf1	T	A	8: 61,329,252	Y143N	possibly damaging	Het
Slc4a8	T	A	15: 100,789,846	I288N	probably damaging	Het
Synpr	G	A	14: 13,563,024	A86T	probably damaging	Het
Ttc38	C	A	15: 85,841,489	F184L	probably damaging	Het
Wdpcp	A	G	11: 21,711,638	I303M	probably damaging	Het
Zc3h12d	G	A	10: 7,867,914	A483T	probably benign	Het
Zfp106	C	A	2: 120,531,613	K1008N	probably damaging	Het
Zfp68	G	A	5: 138,607,779	T94I	probably benign	Het
Zfp867	C	T	11: 59,463,865	A213T	possibly damaging	Het
Zkscan3	A	T	13: 21,394,920		probably null	Het

Other mutations in Mpp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00938:Mpp7	APN	18	7353297	missense	probably benign	0.00
IGL01575:Mpp7	APN	18	7403365	splice site	probably benign
IGL02973:Mpp7	APN	18	7403297	missense	probably damaging	1.00
IGL02985:Mpp7	APN	18	7461637	critical splice donor site	probably null
IGL03224:Mpp7	APN	18	7403269	missense	probably benign	0.28
IGL03248:Mpp7	APN	18	7403269	missense	probably benign	0.28
R0089:Mpp7	UTSW	18	7439555	splice site	probably benign
R1413:Mpp7	UTSW	18	7350977	missense	probably damaging	1.00
R1634:Mpp7	UTSW	18	7350984	missense	possibly damaging	0.63
R1859:Mpp7	UTSW	18	7350967	makesense	probably null
R2379:Mpp7	UTSW	18	7403345	nonsense	probably null
R2869:Mpp7	UTSW	18	7461678	missense	possibly damaging	0.76
R2869:Mpp7	UTSW	18	7461678	missense	possibly damaging	0.76
R2871:Mpp7	UTSW	18	7461678	missense	possibly damaging	0.76
R2871:Mpp7	UTSW	18	7461678	missense	possibly damaging	0.76
R3008:Mpp7	UTSW	18	7461678	missense	possibly damaging	0.76
R3009:Mpp7	UTSW	18	7461678	missense	possibly damaging	0.76
R3010:Mpp7	UTSW	18	7461678	missense	possibly damaging	0.76
R3782:Mpp7	UTSW	18	7351085	missense	probably damaging	0.99
R3980:Mpp7	UTSW	18	7444062	missense	probably benign	0.23
R4574:Mpp7	UTSW	18	7353228	missense	probably benign	0.02
R4772:Mpp7	UTSW	18	7379983	splice site	probably null
R5066:Mpp7	UTSW	18	7513002	missense	possibly damaging	0.95
R5437:Mpp7	UTSW	18	7458930	critical splice donor site	probably null
R5451:Mpp7	UTSW	18	7442855	missense	probably null	0.95
R5578:Mpp7	UTSW	18	7355101	missense	probably benign
R5651:Mpp7	UTSW	18	7355016	critical splice donor site	probably null
R5787:Mpp7	UTSW	18	7461682	missense	probably benign
R6979:Mpp7	UTSW	18	7355049	missense	possibly damaging	0.64
R6984:Mpp7	UTSW	18	7441623	missense	probably damaging	1.00
R7448:Mpp7	UTSW	18	7351079	missense	probably damaging	0.98
R7517:Mpp7	UTSW	18	7440183	nonsense	probably null
R8278:Mpp7	UTSW	18	7444025	missense	probably benign
R8373:Mpp7	UTSW	18	7444096	missense	probably damaging	1.00
R8676:Mpp7	UTSW	18	7440430	critical splice donor site	probably null
R9206:Mpp7	UTSW	18	7403327	missense	probably benign	0.12
R9208:Mpp7	UTSW	18	7403327	missense	probably benign	0.12
R9439:Mpp7	UTSW	18	7461692	nonsense	probably null
R9790:Mpp7	UTSW	18	7355049	missense	probably benign	0.07
R9791:Mpp7	UTSW	18	7355049	missense	probably benign	0.07
X0028:Mpp7	UTSW	18	7403273	missense	probably benign	0.04
Z1177:Mpp7	UTSW	18	7355062	missense	probably damaging	0.99

Posted On

2012-12-21