Mutagenetix > Incidental Mutation

Incidental Mutation 'R9208:Mpp7'

698670

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 #

R9208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7347962-7626863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7403327 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 328 (R328G)

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: R328G

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000111535
Gene: ENSMUSG00000057440
AA Change: R328G

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (65/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	C	T	6: 149,326,529	L358F	probably damaging	Het
Acot6	T	A	12: 84,106,584	L200Q	possibly damaging	Het
AI314180	A	T	4: 58,875,444	D173E	probably damaging	Het
Apbb1	A	G	7: 105,559,520	S569P	probably damaging	Het
Atl3	A	G	19: 7,510,082	I121V	probably benign	Het
C87436	A	G	6: 86,446,245	D267G	probably benign	Het
Ccdc7a	T	A	8: 128,746,001	I1617F	possibly damaging	Het
Cic	T	C	7: 25,288,077	F1397L	probably benign	Het
Cln6	T	A	9: 62,849,183	M203K	probably benign	Het
Clock	A	G	5: 76,237,024	S449P	probably benign	Het
Cse1l	C	A	2: 166,941,265	N743K	probably damaging	Het
Cyp1a2	A	G	9: 57,682,300	I77T	probably damaging	Het
D6Wsu163e	A	G	6: 126,966,969	I443V	probably benign	Het
Dctn1	T	C	6: 83,199,702	V1246A	probably benign	Het
Dennd5b	T	C	6: 149,101,200	E37G	probably benign	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
Ercc5	T	C	1: 44,178,343	W949R	possibly damaging	Het
Fam13c	A	G	10: 70,553,039	E465G	probably damaging	Het
Fam83d	T	A	2: 158,768,546	C145S	probably damaging	Het
Fbln7	T	A	2: 128,895,423	V386E	probably damaging	Het
Fpr3	A	T	17: 17,970,869	Q134L	probably damaging	Het
Gm3636	T	A	14: 6,741,416	R5S	possibly damaging	Het
Gna15	A	G	10: 81,509,390	S214P	probably benign	Het
Hdac9	A	G	12: 34,170,102	M897T	probably benign	Het
Hdc	T	C	2: 126,594,680	N424D	probably benign	Het
Krtap27-1	A	G	16: 88,671,428	V76A	possibly damaging	Het
Lrrd1	T	A	5: 3,850,995	H433Q	probably damaging	Het
Ltn1	T	C	16: 87,400,410	D1180G	probably benign	Het
Macf1	A	G	4: 123,684,132	C20R	unknown	Het
Mphosph9	T	C	5: 124,312,791	N306D	probably damaging	Het
Mslnl	C	T	17: 25,742,720	P117S	possibly damaging	Het
Muc16	T	A	9: 18,508,537	K117M	probably damaging	Het
Mycbp2	T	C	14: 103,295,228	N430S	probably benign	Het
Myl1	T	C	1: 66,934,524	I8V	probably benign	Het
Ncdn	A	T	4: 126,750,248	D260E	probably benign	Het
Nkx3-2	T	A	5: 41,761,771	R291S	probably damaging	Het
Nr4a2	A	G	2: 57,109,081	V448A	probably damaging	Het
Nrip1	T	C	16: 76,292,728	E647G	possibly damaging	Het
Olfr1259	C	A	2: 89,943,381	V245L	possibly damaging	Het
Olfr282	C	A	15: 98,437,733	A88E	probably benign	Het
Olfr69	A	G	7: 103,768,271	I42T	probably benign	Het
Olfr892-ps1	T	C	9: 38,189,824	M33T	possibly damaging	Het
Patj	A	T	4: 98,539,073	I172F	unknown	Het
Per1	T	C	11: 69,104,810	S739P	possibly damaging	Het
Plekhn1	A	C	4: 156,222,402	V510G	possibly damaging	Het
Plxna4	A	T	6: 32,517,444	V79D	probably damaging	Het
Pram1	A	G	17: 33,640,827	T123A	probably benign	Het
Ptpn23	C	A	9: 110,408,033		probably null	Het
Rcbtb2	C	T	14: 73,177,060	S437L	probably damaging	Het
Rxfp4	T	A	3: 88,652,083	R354*	probably null	Het
Serpinb5	A	G	1: 106,876,123	T180A	probably damaging	Het
Slc7a14	T	A	3: 31,227,210	D317V	probably damaging	Het
Slco5a1	A	G	1: 12,989,578		probably null	Het
Snx14	T	A	9: 88,383,779	T768S	probably benign	Het
Sorbs1	T	A	19: 40,365,018		probably benign	Het
Stambp	C	T	6: 83,551,972	A364T	probably damaging	Het
Tgm3	T	A	2: 130,023,698	I6N	possibly damaging	Het
Tmem106b	A	T	6: 13,082,431	T202S	probably damaging	Het
Tnfsf8	A	G	4: 63,834,213	V205A	probably benign	Het
Treml2	A	T	17: 48,307,894	R136*	probably null	Het
Trim46	T	C	3: 89,235,159	T674A	possibly damaging	Het
Trmt13	T	A	3: 116,582,707	Y345F	possibly damaging	Het
Tspyl4	A	G	10: 34,297,572	H20R	probably benign	Het
Uvssa	T	C	5: 33,414,075		probably null	Het
Vmn1r192	A	T	13: 22,187,231	F273Y	probably damaging	Het
Vmn2r45	A	T	7: 8,483,299	I330N	probably damaging	Het
Zfp40	A	G	17: 23,175,577	F679L	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CAGGATGAAGGGAATTTTAGCTTG -3'
(R):5'- TCTCACCAGCCGTCGATATC -3'

Sequencing Primer
(F):5'- TTTGTCATGGATCTGCCG -3'
(R):5'- AGCCGTCGATATCCTTTTTGAAG -3'

Posted On

2022-02-07