Mutagenetix > Incidental Mutation

Incidental Mutation 'R9791:Mpp7'

734647

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: 0.190) question?

Stock #

R9791 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7347962-7626863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7355049 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 459 (N459S)

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
AA Change: N459S

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000111535
Gene: ENSMUSG00000057440
AA Change: N459S

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.5%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	T	A	11: 97,775,768	I31F	probably benign	Het
Abcb1a	T	C	5: 8,698,604	Y312H	probably damaging	Het
Abcc10	A	T	17: 46,322,259	I549N	probably damaging	Het
Agpat2	A	G	2: 26,596,383	Y134H	probably damaging	Het
Alms1	A	G	6: 85,619,443	D417G	probably benign	Het
Apol11b	T	A	15: 77,635,275	I202F	probably benign	Het
Arap1	C	A	7: 101,388,169	Q468K	probably benign	Het
Arhgef4	T	C	1: 34,793,364		probably null	Het
Asap3	A	T	4: 136,234,603	N285I	probably damaging	Het
Aspm	A	T	1: 139,480,637	I2421F	probably damaging	Het
Banp	C	A	8: 121,974,546	D17E	probably benign	Het
Bsx	T	G	9: 40,877,609	V154G	probably damaging	Het
Cacnb1	T	C	11: 98,009,360	D324G	probably damaging	Het
Ccdc170	A	T	10: 4,533,957		probably null	Het
Ccdc187	T	C	2: 26,281,215	H417R	probably benign	Het
Cct4	T	A	11: 22,999,070	M272K	probably damaging	Het
Chd9	A	G	8: 91,033,789	E2054G	possibly damaging	Het
Ctnnal1	A	T	4: 56,844,584	S127T	possibly damaging	Het
Cttnbp2	T	A	6: 18,376,028	H1504L	probably benign	Het
Cyp4a29	T	A	4: 115,251,183	M368K	probably damaging	Het
Dhx32	A	G	7: 133,724,538	F527L	probably benign	Het
Foxk1	T	C	5: 142,401,984	V154A	probably damaging	Het
Frem3	G	A	8: 80,613,261	E728K	probably benign	Het
Gemin5	G	A	11: 58,130,020	Q1114*	probably null	Het
Gm11567	C	T	11: 99,879,448	R71C	unknown	Het
Gm13272	T	C	4: 88,780,205	V119A	probably benign	Het
Gpc6	T	A	14: 116,926,023	C30S	probably damaging	Het
Gprc6a	A	C	10: 51,615,299	F785V	probably damaging	Het
Hormad1	T	C	3: 95,587,382	V368A	probably benign	Het
Hsd17b4	G	A	18: 50,191,840		probably null	Het
Il17ra	C	T	6: 120,482,279	S797F	probably damaging	Het
Jmjd6	A	G	11: 116,842,612	S80P	probably benign	Het
Klhdc2	T	A	12: 69,300,221	N53K	probably benign	Het
Klhl30	C	T	1: 91,354,367	P230L	probably benign	Het
March1	C	A	8: 66,276,687	A46E	probably benign	Het
Mast4	T	C	13: 102,754,197	T1050A	probably benign	Het
Mtfr1l	A	G	4: 134,530,752	V53A	probably benign	Het
Myh11	T	A	16: 14,208,128	E1326V		Het
Myh3	A	G	11: 67,101,179	E1850G	probably damaging	Het
Myo16	A	G	8: 10,569,925	D1492G	unknown	Het
Myo3b	C	A	2: 70,349,943	H1219Q	probably benign	Het
Nphp4	A	T	4: 152,562,148	Q1379L	probably null	Het
Olfr1500	A	G	19: 13,827,550	I282T	probably benign	Het
Olfr948	C	T	9: 39,319,519	V32I	probably benign	Het
Osbpl6	T	G	2: 76,555,017	L265R	probably damaging	Het
Pld4	A	G	12: 112,768,428	T440A	probably damaging	Het
Prr14	T	C	7: 127,471,956	M1T	probably null	Het
Ptger4	A	T	15: 5,243,697	M1K	probably null	Het
Ptpn22	A	T	3: 103,888,526	T608S	possibly damaging	Het
S1pr2	A	G	9: 20,968,023	W170R	probably damaging	Het
Specc1l	A	G	10: 75,230,769	I17M	probably benign	Het
Sptbn4	C	G	7: 27,372,237	G1601R	probably damaging	Het
Sqor	C	T	2: 122,784,992	P11L	probably benign	Het
Stac2	T	C	11: 98,043,623	D85G	probably benign	Het
Svs2	G	A	2: 164,236,998	Q330*	probably null	Het
Taar7e	A	G	10: 24,037,656	I15V	probably benign	Het
Tcf4	A	T	18: 69,636,936	Y275F	probably damaging	Het
Tenm4	A	G	7: 96,888,839	N1873S	probably damaging	Het
Tert	T	A	13: 73,627,529	V133D	probably benign	Het
Tfap2a	T	A	13: 40,717,182	N410I	probably damaging	Het
Tjp3	A	T	10: 81,273,860	D836E	probably benign	Het
Tox3	A	T	8: 90,248,578	M475K	unknown	Het
Traf4	A	T	11: 78,160,153	D392E	probably damaging	Het
Vav2	A	G	2: 27,291,813	L338P	probably damaging	Het
Vmn1r81	T	C	7: 12,260,186	N165S	probably benign	Het
Vmn2r9	A	T	5: 108,847,543	V413E	probably damaging	Het
Wdr7	A	T	18: 63,777,988	D817V	probably damaging	Het
Zbtb38	G	A	9: 96,688,647	S128L	probably damaging	Het
Zfhx4	T	A	3: 5,399,862	H1718Q	probably damaging	Het
Zfp945	G	A	17: 22,852,254	H245Y	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
R9439:Mpp7	UTSW	18	7461692	nonsense	probably null
R9790: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'- GCCTGTGAACTTGACTGAAGAAAAC -3'
(R):5'- TTTGCCGAAGTGCTTGGCTC -3'

Sequencing Primer
(F):5'- CCAAGAGATACAAACATTGATCTCTG -3'
(R):5'- CACAGCAAAATTTTTACACATTCAGC -3'

Posted On

2022-11-14