Mutagenetix > Incidental Mutation

Incidental Mutation 'R9439:Mpp7'

713463

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R9439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7347962-7626863 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 7461692 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 60 (Y60*)

Ref Sequence

ENSEMBL: ENSMUSP00000111535 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000115869
AA Change: Y60*

SMART Domains

Protein: ENSMUSP00000111535
Gene: ENSMUSG00000057440
AA Change: Y60*

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: 100.0%
3x: 99.9%
10x: 99.7%
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 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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 138,066,287	E412D	probably benign	Het
Aak1	T	A	6: 86,956,292	V415D	probably damaging	Het
Ache	A	C	5: 137,290,923	D297A	probably damaging	Het
Armc9	T	C	1: 86,156,965	I4T	possibly damaging	Het
Atp8b2	T	A	3: 89,944,185	Y925F		Het
Avpr1b	T	C	1: 131,600,291	L184P	probably damaging	Het
Cabin1	G	A	10: 75,745,235	P419L	probably damaging	Het
Ccdc88c	T	C	12: 100,918,338	S1578G	probably benign	Het
Ccnd2	A	T	6: 127,150,654	C40*	probably null	Het
Col6a3	A	T	1: 90,816,433	I471N	probably damaging	Het
Cp	A	G	3: 19,992,507		probably null	Het
Cyfip2	C	T	11: 46,200,841	R1084Q	probably damaging	Het
D11Wsu47e	C	T	11: 113,692,403	Q519*	probably null	Het
Diaph1	A	G	18: 37,896,359		probably null	Het
Dnah6	T	C	6: 73,035,347	N3713S	possibly damaging	Het
Dot1l	G	T	10: 80,785,604	R633L	possibly damaging	Het
Ehmt1	A	T	2: 24,825,018	M809K	probably damaging	Het
Fcgbp	C	A	7: 28,104,011	A1680E	possibly damaging	Het
Flt1	A	G	5: 147,578,397	F1072L	probably damaging	Het
Gm19410	G	T	8: 35,781,656	A549S	probably damaging	Het
Gnat1	A	T	9: 107,676,312	I249N		Het
Gp2	T	C	7: 119,454,210	Y176C	probably damaging	Het
Gpc2	G	T	5: 138,278,986	Q60K	probably benign	Het
Gpsm2	T	A	3: 108,703,081	E21V	probably damaging	Het
Igkv4-80	T	A	6: 69,016,809	M33L	probably benign	Het
Il20ra	C	A	10: 19,743,003	H66Q	probably benign	Het
Kap	C	T	6: 133,851,987	D61N	probably benign	Het
Magi3	C	T	3: 104,015,157	A1415T	probably benign	Het
Neil1	T	A	9: 57,143,814	R294*	probably null	Het
Nkx6-3	A	G	8: 23,153,762	S60G	probably benign	Het
Noc2l	T	A	4: 156,241,673	S406T	possibly damaging	Het
Olfr113	A	G	17: 37,574,934	I163T	probably benign	Het
Olfr279	T	C	15: 98,498,366	V298A	possibly damaging	Het
Olfr325	T	C	11: 58,581,278	C145R	probably benign	Het
Olfr510	T	C	7: 108,667,419	M1T	probably null	Het
Olfr616	T	G	7: 103,564,842	I146L	probably benign	Het
Olfr92	A	G	17: 37,111,313	V223A	probably damaging	Het
Paqr4	A	G	17: 23,739,965	F21L	probably damaging	Het
Pcdha9	A	G	18: 36,998,474	T199A	probably benign	Het
Pcdhgb7	T	C	18: 37,751,864	L29P	probably benign	Het
Pfkl	G	A	10: 77,995,338	A323V	probably damaging	Het
Pik3r4	C	A	9: 105,650,842	P465T	probably damaging	Het
Pitpnm2	A	G	5: 124,136,126	S307P	probably damaging	Het
Pitpnm2	A	G	5: 124,140,596	Y191H	probably damaging	Het
Plod3	G	A	5: 136,994,182	V613I	probably benign	Het
Prr23a2	C	T	9: 98,856,868	T93I	probably damaging	Het
Ptk6	T	A	2: 181,198,413	M267L	possibly damaging	Het
Rabl6	C	T	2: 25,602,420		probably null	Het
Ralgapa2	T	C	2: 146,412,138	H787R	probably benign	Het
Rfx8	T	G	1: 39,685,509	M231L	probably benign	Het
Rnf126	A	T	10: 79,761,631	I149N	probably damaging	Het
Smpd4	A	G	16: 17,641,587	I625V	probably benign	Het
Tcf7l1	A	G	6: 72,788,757	S66P	probably damaging	Het
Tsc22d1	G	A	14: 76,506,459	V1007M	probably damaging	Het
Tspoap1	C	T	11: 87,774,709	R758C	probably damaging	Het
Vmn1r210	A	C	13: 22,827,227	H296Q	possibly damaging	Het
Zfp532	G	A	18: 65,685,643	V857I	probably benign	Het
Zfyve9	T	C	4: 108,644,341	T593A	probably benign	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
R0040:Mpp7	UTSW	18	7403180	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CACAAGCGTGGTGATGACAG -3'
(R):5'- TCTGTCTGAAGAAAGTTTTGCC -3'

Sequencing Primer
(F):5'- CAGAGATTTGGGAAACATTTGCAAC -3'
(R):5'- CTGTCTGAAGAAAGTTTTGCCATTTG -3'

Posted On

2022-05-16