Mutagenetix > Incidental Mutation

Incidental Mutation 'R0089:Mpp7'

20100

Institutional Source

Beutler Lab

Gene Symbol

Mpp7

Ensembl Gene

ENSMUSG00000057440

Gene Name

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

Synonyms

2810038M04Rik, LOC381166, 5430426E14Rik, 1110068J02Rik

MMRRC Submission

038376-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R0089 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7347959-7626866 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 7439555 bp (GRCm39)

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.6%
20x: 90.5%

Validation Efficiency

98% (82/84)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	A	4: 144,282,303 (GRCm39)	H163L	probably benign	Het
Abca13	T	A	11: 9,242,886 (GRCm39)	V1583E	possibly damaging	Het
Ablim1	G	T	19: 57,031,463 (GRCm39)	S654Y	probably damaging	Het
Acbd4	T	C	11: 102,994,819 (GRCm39)	F59S	probably damaging	Het
Acot1	T	C	12: 84,063,708 (GRCm39)	I272T	probably damaging	Het
Ankhd1	A	G	18: 36,773,409 (GRCm39)	D1402G	probably damaging	Het
Birc6	T	A	17: 74,945,371 (GRCm39)	F2800I	possibly damaging	Het
Brd1	T	C	15: 88,585,401 (GRCm39)	E811G	probably benign	Het
Catspere2	C	T	1: 177,874,555 (GRCm39)	P141S	unknown	Het
Ccdc106	A	G	7: 5,059,220 (GRCm39)		probably null	Het
Ccdc81	G	T	7: 89,542,324 (GRCm39)	A184E	possibly damaging	Het
Cenpt	T	C	8: 106,573,000 (GRCm39)	T364A	probably benign	Het
Crybg2	T	C	4: 133,808,505 (GRCm39)	S1060P	probably damaging	Het
Dnttip2	A	G	3: 122,069,111 (GRCm39)	T109A	possibly damaging	Het
Dpy19l2	A	G	9: 24,607,089 (GRCm39)	L124P	probably benign	Het
Eif1ad19	A	T	12: 87,740,283 (GRCm39)	I92N	probably damaging	Het
Fat3	T	C	9: 15,849,501 (GRCm39)	D3967G	probably benign	Het
Fbxo21	T	A	5: 118,146,208 (GRCm39)	F610L	probably benign	Het
Fmo9	T	C	1: 166,494,878 (GRCm39)	D341G	probably benign	Het
Frem3	A	T	8: 81,342,507 (GRCm39)	H1600L	possibly damaging	Het
Fry	A	T	5: 150,263,892 (GRCm39)	K133N	possibly damaging	Het
Gm10647	A	G	9: 66,705,612 (GRCm39)		probably benign	Het
Gmps	T	C	3: 63,906,119 (GRCm39)	F472S	probably benign	Het
Grb10	T	C	11: 11,884,192 (GRCm39)		probably benign	Het
Grm6	G	A	11: 50,750,792 (GRCm39)	G652S	probably damaging	Het
Heca	G	T	10: 17,783,848 (GRCm39)	D468E	probably damaging	Het
Heg1	C	T	16: 33,583,985 (GRCm39)	S1033L	probably damaging	Het
Hepacam2	A	G	6: 3,487,094 (GRCm39)	S12P	probably damaging	Het
Impdh1	G	T	6: 29,206,325 (GRCm39)	H195N	probably benign	Het
Ipo7	T	C	7: 109,649,972 (GRCm39)		probably benign	Het
Itpr2	C	T	6: 146,251,520 (GRCm39)		probably null	Het
Kcnh6	G	A	11: 105,899,848 (GRCm39)	C39Y	probably benign	Het
Kif26a	T	C	12: 112,143,837 (GRCm39)	S1364P	probably damaging	Het
Lins1	T	A	7: 66,361,796 (GRCm39)		probably benign	Het
Lrpap1	C	T	5: 35,252,232 (GRCm39)	V328M	possibly damaging	Het
Lyn	T	G	4: 3,748,768 (GRCm39)	L249V	probably benign	Het
Mtmr9	A	G	14: 63,765,696 (GRCm39)	F400L	possibly damaging	Het
Mto1	G	A	9: 78,381,154 (GRCm39)	S666N	probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nsg1	T	C	5: 38,312,974 (GRCm39)	E75G	probably benign	Het
Nsun4	A	G	4: 115,892,970 (GRCm39)	M283T	probably benign	Het
Obscn	A	G	11: 58,890,888 (GRCm39)	S7215P	unknown	Het
Or11j4	T	C	14: 50,630,321 (GRCm39)	I36T	probably benign	Het
Or13a20	T	C	7: 140,232,224 (GRCm39)	S111P	probably damaging	Het
Or1j12	G	A	2: 36,343,107 (GRCm39)	R170K	probably benign	Het
Or2y13	G	A	11: 49,415,033 (GRCm39)	S161N	possibly damaging	Het
Or52e4	T	A	7: 104,706,297 (GRCm39)	Y281*	probably null	Het
Or5al1	A	C	2: 85,989,918 (GRCm39)	S265R	possibly damaging	Het
Or9m1b	T	C	2: 87,836,331 (GRCm39)	I264V	probably damaging	Het
Per1	T	C	11: 68,994,869 (GRCm39)	F563S	probably benign	Het
Pik3c3	T	A	18: 30,436,131 (GRCm39)		probably benign	Het
Pitrm1	A	T	13: 6,605,675 (GRCm39)	K207N	probably damaging	Het
Prdm10	C	T	9: 31,227,526 (GRCm39)	R44C	probably damaging	Het
Rab40c	A	T	17: 26,104,122 (GRCm39)	I90N	probably damaging	Het
Rbl1	A	G	2: 157,041,334 (GRCm39)		probably null	Het
Rnf17	G	A	14: 56,751,563 (GRCm39)	G1467E	probably damaging	Het
Rpgrip1	A	G	14: 52,386,841 (GRCm39)		probably benign	Het
Sall1	A	T	8: 89,756,896 (GRCm39)	N1069K	probably benign	Het
Scap	T	C	9: 110,201,290 (GRCm39)	I93T	possibly damaging	Het
Sez6	T	C	11: 77,865,170 (GRCm39)		probably benign	Het
Slc22a30	A	T	19: 8,347,561 (GRCm39)	S280T	probably benign	Het
Slc26a5	A	C	5: 22,016,342 (GRCm39)		probably null	Het
St18	T	C	1: 6,919,172 (GRCm39)	V901A	probably benign	Het
Syne2	T	C	12: 76,010,650 (GRCm39)	L2519P	probably damaging	Het
Syne4	G	A	7: 30,018,344 (GRCm39)	G362E	probably damaging	Het
Tmem51	T	C	4: 141,759,236 (GRCm39)	T171A	probably benign	Het
Tns4	A	T	11: 98,966,024 (GRCm39)	I453N	probably damaging	Het
Trank1	A	T	9: 111,221,978 (GRCm39)	H2905L	probably benign	Het
Trim13	C	T	14: 61,842,166 (GRCm39)	T61I	possibly damaging	Het
Trim75	T	C	8: 65,435,580 (GRCm39)	Q290R	possibly damaging	Het
Ttn	C	A	2: 76,559,544 (GRCm39)	R29619L	probably damaging	Het
Ugt2b38	T	A	5: 87,568,417 (GRCm39)	M293L	probably benign	Het
Vmn1r22	T	A	6: 57,877,513 (GRCm39)	N155Y	probably benign	Het
Vmn2r18	T	C	5: 151,508,269 (GRCm39)	Y285C	probably benign	Het
Vmn2r84	C	T	10: 130,222,588 (GRCm39)		probably benign	Het
Vwde	A	C	6: 13,220,004 (GRCm39)	L49R	probably damaging	Het
Yipf2	T	A	9: 21,503,262 (GRCm39)	E68D	possibly damaging	Het
Zfand5	C	A	19: 21,257,122 (GRCm39)		probably benign	Het

Other mutations in Mpp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00938:Mpp7	APN	18	7,353,297 (GRCm39)	missense	probably benign	0.00
IGL01575:Mpp7	APN	18	7,403,365 (GRCm39)	splice site	probably benign
IGL02973:Mpp7	APN	18	7,403,297 (GRCm39)	missense	probably damaging	1.00
IGL02985:Mpp7	APN	18	7,461,637 (GRCm39)	critical splice donor site	probably null
IGL03224:Mpp7	APN	18	7,403,269 (GRCm39)	missense	probably benign	0.28
IGL03248:Mpp7	APN	18	7,403,269 (GRCm39)	missense	probably benign	0.28
R0040:Mpp7	UTSW	18	7,403,180 (GRCm39)	splice site	probably benign
R1413:Mpp7	UTSW	18	7,350,977 (GRCm39)	missense	probably damaging	1.00
R1634:Mpp7	UTSW	18	7,350,984 (GRCm39)	missense	possibly damaging	0.63
R1859:Mpp7	UTSW	18	7,350,967 (GRCm39)	makesense	probably null
R2379:Mpp7	UTSW	18	7,403,345 (GRCm39)	nonsense	probably null
R2869:Mpp7	UTSW	18	7,461,678 (GRCm39)	missense	possibly damaging	0.76
R2869:Mpp7	UTSW	18	7,461,678 (GRCm39)	missense	possibly damaging	0.76
R2871:Mpp7	UTSW	18	7,461,678 (GRCm39)	missense	possibly damaging	0.76
R2871:Mpp7	UTSW	18	7,461,678 (GRCm39)	missense	possibly damaging	0.76
R3008:Mpp7	UTSW	18	7,461,678 (GRCm39)	missense	possibly damaging	0.76
R3009:Mpp7	UTSW	18	7,461,678 (GRCm39)	missense	possibly damaging	0.76
R3010:Mpp7	UTSW	18	7,461,678 (GRCm39)	missense	possibly damaging	0.76
R3782:Mpp7	UTSW	18	7,351,085 (GRCm39)	missense	probably damaging	0.99
R3980:Mpp7	UTSW	18	7,444,062 (GRCm39)	missense	probably benign	0.23
R4574:Mpp7	UTSW	18	7,353,228 (GRCm39)	missense	probably benign	0.02
R4772:Mpp7	UTSW	18	7,379,983 (GRCm39)	splice site	probably null
R5066:Mpp7	UTSW	18	7,513,002 (GRCm39)	missense	possibly damaging	0.95
R5437:Mpp7	UTSW	18	7,458,930 (GRCm39)	critical splice donor site	probably null
R5451:Mpp7	UTSW	18	7,442,855 (GRCm39)	missense	probably null	0.95
R5578:Mpp7	UTSW	18	7,355,101 (GRCm39)	missense	probably benign
R5651:Mpp7	UTSW	18	7,355,016 (GRCm39)	critical splice donor site	probably null
R5787:Mpp7	UTSW	18	7,461,682 (GRCm39)	missense	probably benign
R6979:Mpp7	UTSW	18	7,355,049 (GRCm39)	missense	possibly damaging	0.64
R6984:Mpp7	UTSW	18	7,441,623 (GRCm39)	missense	probably damaging	1.00
R7448:Mpp7	UTSW	18	7,351,079 (GRCm39)	missense	probably damaging	0.98
R7517:Mpp7	UTSW	18	7,440,183 (GRCm39)	nonsense	probably null
R8278:Mpp7	UTSW	18	7,444,025 (GRCm39)	missense	probably benign
R8373:Mpp7	UTSW	18	7,444,096 (GRCm39)	missense	probably damaging	1.00
R8676:Mpp7	UTSW	18	7,440,430 (GRCm39)	critical splice donor site	probably null
R9206:Mpp7	UTSW	18	7,403,327 (GRCm39)	missense	probably benign	0.12
R9208:Mpp7	UTSW	18	7,403,327 (GRCm39)	missense	probably benign	0.12
R9439:Mpp7	UTSW	18	7,461,692 (GRCm39)	nonsense	probably null
R9790:Mpp7	UTSW	18	7,355,049 (GRCm39)	missense	probably benign	0.07
R9791:Mpp7	UTSW	18	7,355,049 (GRCm39)	missense	probably benign	0.07
X0028:Mpp7	UTSW	18	7,403,273 (GRCm39)	missense	probably benign	0.04
Z1177:Mpp7	UTSW	18	7,355,062 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCAGGCAGTGAGTCGCACATTAC -3'
(R):5'- TGATTCCCTCCAAGCACTTCCAGG -3'

Sequencing Primer
(F):5'- GTGAGTCGCACATTACAATGAAC -3'
(R):5'- GTGTCCTGTAGAAGATCACTCTAGC -3'

Posted On

2013-04-11