Mutagenetix > Incidental Mutation

Incidental Mutation 'R3980:Mpp7'

311291

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

040843-MU

Accession Numbers

Essential gene?

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

Stock #

R3980 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7347959-7626866 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7444062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 120 (D120G)

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: D120G

PolyPhen 2 Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000111535
Gene: ENSMUSG00000057440
AA Change: D120G

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: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	G	A	15: 74,454,792 (GRCm39)	G268R	probably damaging	Het
Amacr	T	A	15: 10,989,015 (GRCm39)	Y240*	probably null	Het
Ankhd1	A	T	18: 36,780,666 (GRCm39)	H1906L	probably damaging	Het
Arhgef25	C	A	10: 127,023,089 (GRCm39)	C106F	probably damaging	Het
Bean1	A	T	8: 104,937,730 (GRCm39)	Q103L	possibly damaging	Het
Ccr9	A	T	9: 123,608,441 (GRCm39)	N41I	probably benign	Het
Ceacam16	A	G	7: 19,592,558 (GRCm39)	F117L	probably benign	Het
Col4a1	T	C	8: 11,289,155 (GRCm39)		probably benign	Het
Csk	A	G	9: 57,538,063 (GRCm39)	Y48H	probably damaging	Het
Csmd1	T	A	8: 15,956,056 (GRCm39)	K3384*	probably null	Het
Ctnnd2	T	A	15: 30,669,589 (GRCm39)	H399Q	probably benign	Het
Cutal	T	C	2: 34,772,325 (GRCm39)	Y30H	possibly damaging	Het
Cybb	T	C	X: 9,310,827 (GRCm39)	Y425C	probably damaging	Het
Dab2	A	G	15: 6,464,644 (GRCm39)		probably null	Het
Defb30	C	A	14: 63,273,421 (GRCm39)	C64F	probably damaging	Het
Eif2a	T	C	3: 58,446,960 (GRCm39)	I45T	probably benign	Het
Esyt1	T	A	10: 128,347,393 (GRCm39)	D1044V	probably damaging	Het
Gabpb2	A	T	3: 95,096,081 (GRCm39)	V382E	probably damaging	Het
Glb1	T	A	9: 114,246,132 (GRCm39)	I61K	probably damaging	Het
Insyn2b	G	A	11: 34,352,678 (GRCm39)	C240Y	probably benign	Het
Kcnt1	T	C	2: 25,783,226 (GRCm39)	V263A	possibly damaging	Het
Kdm5b	A	G	1: 134,547,408 (GRCm39)	D1019G	probably benign	Het
Klhl2	A	T	8: 65,196,109 (GRCm39)	L545M	probably damaging	Het
Klhl2	C	A	8: 65,196,115 (GRCm39)	G543C	probably damaging	Het
Krt31	G	T	11: 99,939,030 (GRCm39)	Q264K	probably damaging	Het
Lmnb1	A	G	18: 56,864,091 (GRCm39)	D232G	probably damaging	Het
Loxhd1	T	C	18: 77,501,855 (GRCm39)	F859L	probably damaging	Het
Map7	C	A	10: 20,143,099 (GRCm39)	T416K	unknown	Het
Med18	T	A	4: 132,190,251 (GRCm39)	I45F	probably benign	Het
Mn1	A	T	5: 111,569,636 (GRCm39)	H1202L	possibly damaging	Het
Nlrp1b	A	T	11: 71,072,437 (GRCm39)	F469I	possibly damaging	Het
Nos3	T	A	5: 24,582,929 (GRCm39)	D685E	probably damaging	Het
Nrap	G	A	19: 56,369,984 (GRCm39)	A206V	probably benign	Het
Nuggc	T	C	14: 65,856,542 (GRCm39)		probably null	Het
Oasl1	C	T	5: 115,070,957 (GRCm39)	T274I	probably damaging	Het
Or10ak12	T	A	4: 118,666,500 (GRCm39)	Y187F	probably benign	Het
Or51a25	T	C	7: 102,372,959 (GRCm39)	N246S	probably damaging	Het
Parp3	T	C	9: 106,351,267 (GRCm39)	D278G	probably damaging	Het
Phc3	T	A	3: 30,991,080 (GRCm39)	Q346L	probably damaging	Het
Pigo	A	G	4: 43,019,231 (GRCm39)	L1029P	probably damaging	Het
Plcb3	A	G	19: 6,943,803 (GRCm39)	I66T	probably damaging	Het
Plch2	T	C	4: 155,069,255 (GRCm39)	S1019G	probably benign	Het
Plekhg6	C	A	6: 125,350,146 (GRCm39)	C264F	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pou4f2	G	T	8: 79,162,067 (GRCm39)	H179N	possibly damaging	Het
Prpf39	T	C	12: 65,108,231 (GRCm39)		probably benign	Het
Rapgef1	G	A	2: 29,609,662 (GRCm39)	V700I	probably benign	Het
Rdh14	A	G	12: 10,444,703 (GRCm39)	I185V	probably benign	Het
Rnf111	A	T	9: 70,349,607 (GRCm39)	H785Q	probably damaging	Het
Rttn	C	T	18: 89,035,399 (GRCm39)	R758W	probably benign	Het
Sik3	G	A	9: 46,113,361 (GRCm39)	V601M	probably damaging	Het
Slc22a14	T	C	9: 119,007,552 (GRCm39)	T286A	probably benign	Het
Slc36a3	G	A	11: 55,026,209 (GRCm39)	T203I	probably benign	Het
Spata31	A	T	13: 65,070,468 (GRCm39)	Q872L	probably benign	Het
Spata31d1c	A	G	13: 65,182,974 (GRCm39)	D172G	possibly damaging	Het
Sphkap	A	T	1: 83,245,215 (GRCm39)		probably null	Het
Stat6	T	C	10: 127,491,248 (GRCm39)	V463A	probably damaging	Het
Stx7	T	C	10: 24,060,947 (GRCm39)	S225P	probably damaging	Het
Sult2a7	A	T	7: 14,207,334 (GRCm39)		probably benign	Het
Tada2a	A	T	11: 83,993,946 (GRCm39)	F179L	probably benign	Het
Tas2r103	A	G	6: 133,013,280 (GRCm39)	L262P	probably benign	Het
Tfap2d	A	G	1: 19,236,187 (GRCm39)	I382V	possibly damaging	Het
Tshr	C	A	12: 91,504,517 (GRCm39)	A485D	probably damaging	Het
Vmn1r32	T	A	6: 66,530,698 (GRCm39)	Y26F	probably damaging	Het
Vmn1r5	A	G	6: 56,962,636 (GRCm39)	T104A	probably damaging	Het
Wbp1l	T	A	19: 46,642,396 (GRCm39)		probably null	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
R0089:Mpp7	UTSW	18	7,439,555 (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
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'- GAGTCATCTCCTTTGGATGAAGATG -3'
(R):5'- AAGACACCCTGCTTCAAATGG -3'

Sequencing Primer
(F):5'- CTTTACGGTGTAGGGGCTCAGAAG -3'
(R):5'- GACACCCTGCTTCAAATGGTTTCC -3'

Posted On

2015-04-29