Mutagenetix > Incidental Mutation

Incidental Mutation 'R1859:Mpp7'

204264

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R1859 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7347962-7626863 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to T at 7350967 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Lysine at position 577 (*577K)

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: *577K

SMART Domains

Protein: ENSMUSP00000111535
Gene: ENSMUSG00000057440
AA Change: *577K

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	C	T	12: 110,670,834 (GRCm38)		probably benign	Het
Adcy10	A	G	1: 165,521,961 (GRCm38)	E467G	probably damaging	Het
Alkbh8	A	G	9: 3,385,499 (GRCm38)	D597G	probably benign	Het
Alpk1	T	A	3: 127,681,100 (GRCm38)	H418L	possibly damaging	Het
Ano5	G	T	7: 51,546,833 (GRCm38)	V138L	probably damaging	Het
Aspg	T	A	12: 112,121,172 (GRCm38)	I319K	possibly damaging	Het
Atp9b	T	C	18: 80,749,920 (GRCm38)	T970A	possibly damaging	Het
Brd10	A	C	19: 29,754,923 (GRCm38)	C230G	possibly damaging	Het
C4b	T	A	17: 34,735,553 (GRCm38)	M881L	probably benign	Het
Cd209c	A	T	8: 3,944,953 (GRCm38)	N70K	probably benign	Het
Cdca5	T	C	19: 6,090,094 (GRCm38)	V95A	possibly damaging	Het
Cds2	A	G	2: 132,302,195 (GRCm38)	Y297C	probably damaging	Het
Celsr2	C	T	3: 108,396,630 (GRCm38)	G2371S	probably damaging	Het
Cemip2	T	C	19: 21,847,977 (GRCm38)	V1213A	possibly damaging	Het
Chd5	T	A	4: 152,380,523 (GRCm38)	I1557N	probably benign	Het
Cntn5	C	T	9: 9,972,834 (GRCm38)	E266K	probably damaging	Het
Crtam	G	A	9: 40,973,604 (GRCm38)	T363M	possibly damaging	Het
Dnah2	A	G	11: 69,437,886 (GRCm38)	S3298P	probably damaging	Het
Dok1	A	T	6: 83,032,245 (GRCm38)	Y209N	probably damaging	Het
Dpp10	T	C	1: 123,353,604 (GRCm38)	D561G	possibly damaging	Het
Drosha	A	G	15: 12,878,718 (GRCm38)	K710R	probably benign	Het
Dse	T	C	10: 34,153,229 (GRCm38)	T622A	probably benign	Het
Duxf4	A	G	10: 58,235,780 (GRCm38)	V204A	probably benign	Het
Ercc6	T	C	14: 32,526,778 (GRCm38)	S429P	probably damaging	Het
Fam135a	A	T	1: 24,030,225 (GRCm38)	V521E	probably damaging	Het
Fbxl7	A	T	15: 26,543,193 (GRCm38)	L456Q	probably damaging	Het
Fbxo38	A	G	18: 62,515,418 (GRCm38)	I683T	probably damaging	Het
Foxc2	G	T	8: 121,116,625 (GRCm38)	R4L	probably damaging	Het
Glyctk	C	T	9: 106,157,532 (GRCm38)	V112I	probably benign	Het
Guf1	G	T	5: 69,568,460 (GRCm38)	G481*	probably null	Het
Heatr1	T	C	13: 12,403,159 (GRCm38)	L324S	probably damaging	Het
Hectd1	A	G	12: 51,806,567 (GRCm38)	L57P	probably damaging	Het
Hmcn1	A	T	1: 150,657,193 (GRCm38)	C3080S	probably damaging	Het
Hsh2d	G	A	8: 72,200,460 (GRCm38)	D229N	probably benign	Het
Ifit1	T	A	19: 34,647,544 (GRCm38)	F27I	probably benign	Het
Ift20	G	T	11: 78,540,034 (GRCm38)	E68*	probably null	Het
Itsn1	A	G	16: 91,889,154 (GRCm38)		probably benign	Het
Ksr2	T	A	5: 117,414,941 (GRCm38)	L38Q	probably damaging	Het
Lama2	A	T	10: 27,031,082 (GRCm38)	M2361K	possibly damaging	Het
Lrrc56	A	G	7: 141,207,508 (GRCm38)	M353V	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261 (GRCm38)		probably null	Het
Map3k9	A	T	12: 81,724,482 (GRCm38)	S800R	possibly damaging	Het
Mef2a	A	G	7: 67,266,018 (GRCm38)	S179P	probably damaging	Het
Micall1	A	G	15: 79,122,945 (GRCm38)		probably benign	Het
Mpg	A	G	11: 32,231,957 (GRCm38)		probably null	Het
Msh4	G	T	3: 153,905,880 (GRCm38)	H35Q	probably benign	Het
Mst1	G	A	9: 108,084,346 (GRCm38)	V601I	probably benign	Het
Myh10	T	A	11: 68,745,413 (GRCm38)	N246K	probably benign	Het
Myom3	C	A	4: 135,779,396 (GRCm38)	N493K	probably benign	Het
Mypn	T	C	10: 63,146,190 (GRCm38)	D537G	probably benign	Het
Ncan	A	T	8: 70,115,348 (GRCm38)	M38K	possibly damaging	Het
Ndufaf6	G	T	4: 11,053,474 (GRCm38)	H277Q	probably benign	Het
Nos1	A	T	5: 117,905,462 (GRCm38)	N601Y	possibly damaging	Het
Nrxn2	G	A	19: 6,488,795 (GRCm38)	V794I	probably benign	Het
Or10q12	T	A	19: 13,768,724 (GRCm38)	Y127*	probably null	Het
Or13a17	T	A	7: 140,691,658 (GRCm38)	V251E	possibly damaging	Het
Or13c7b	A	T	4: 43,820,779 (GRCm38)	I194N	possibly damaging	Het
Or2y17	T	C	11: 49,341,384 (GRCm38)	L284P	probably damaging	Het
Or8h9	T	C	2: 86,959,081 (GRCm38)	I126V	probably damaging	Het
Parp4	T	C	14: 56,648,915 (GRCm38)	V1817A	unknown	Het
Pfdn1	C	A	18: 36,451,100 (GRCm38)	M60I	probably benign	Het
Ppp1r3c	T	C	19: 36,733,611 (GRCm38)	N253S	probably damaging	Het
Prdm5	A	G	6: 65,831,279 (GRCm38)	I42V	probably benign	Het
Prom2	T	G	2: 127,541,097 (GRCm38)	Q75P	probably damaging	Het
Ptpn23	T	C	9: 110,388,870 (GRCm38)	D669G	possibly damaging	Het
Rag1	T	C	2: 101,644,062 (GRCm38)	D245G	probably benign	Het
Rpl22l1	T	A	3: 28,806,598 (GRCm38)		probably null	Het
Sars2	T	C	7: 28,744,312 (GRCm38)	V113A	probably damaging	Het
Sbno2	T	A	10: 80,058,639 (GRCm38)	K1067*	probably null	Het
Sec61g	A	G	11: 16,506,371 (GRCm38)		probably null	Het
Slc4a11	A	T	2: 130,688,012 (GRCm38)	M282K	probably benign	Het
Slc5a4a	T	C	10: 76,166,735 (GRCm38)	S242P	probably benign	Het
Sparc	A	T	11: 55,406,508 (GRCm38)		probably null	Het
Thra	T	A	11: 98,756,151 (GRCm38)	C33S	probably damaging	Het
Trrap	A	T	5: 144,830,951 (GRCm38)	T2293S	probably benign	Het
Ttn	T	A	2: 76,894,645 (GRCm38)		probably benign	Het
Vat1l	T	A	8: 114,271,301 (GRCm38)	V195E	probably damaging	Het
Vmn1r60	T	A	7: 5,544,550 (GRCm38)	I184F	possibly damaging	Het
Wdfy4	A	G	14: 33,103,983 (GRCm38)	I1192T	probably damaging	Het
Zbtb10	T	C	3: 9,280,386 (GRCm38)	S737P	possibly damaging	Het
Zfp553	A	G	7: 127,235,345 (GRCm38)	E24G	probably benign	Het
Zscan30	A	G	18: 23,971,467 (GRCm38)		noncoding transcript	Het

Other mutations in Mpp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00938:Mpp7	APN	18	7,353,297 (GRCm38)	missense	probably benign	0.00
IGL01575:Mpp7	APN	18	7,403,365 (GRCm38)	splice site	probably benign
IGL02973:Mpp7	APN	18	7,403,297 (GRCm38)	missense	probably damaging	1.00
IGL02985:Mpp7	APN	18	7,461,637 (GRCm38)	critical splice donor site	probably null
IGL03224:Mpp7	APN	18	7,403,269 (GRCm38)	missense	probably benign	0.28
IGL03248:Mpp7	APN	18	7,403,269 (GRCm38)	missense	probably benign	0.28
R0040:Mpp7	UTSW	18	7,403,180 (GRCm38)	splice site	probably benign
R0089:Mpp7	UTSW	18	7,439,555 (GRCm38)	splice site	probably benign
R1413:Mpp7	UTSW	18	7,350,977 (GRCm38)	missense	probably damaging	1.00
R1634:Mpp7	UTSW	18	7,350,984 (GRCm38)	missense	possibly damaging	0.63
R2379:Mpp7	UTSW	18	7,403,345 (GRCm38)	nonsense	probably null
R2869:Mpp7	UTSW	18	7,461,678 (GRCm38)	missense	possibly damaging	0.76
R2869:Mpp7	UTSW	18	7,461,678 (GRCm38)	missense	possibly damaging	0.76
R2871:Mpp7	UTSW	18	7,461,678 (GRCm38)	missense	possibly damaging	0.76
R2871:Mpp7	UTSW	18	7,461,678 (GRCm38)	missense	possibly damaging	0.76
R3008:Mpp7	UTSW	18	7,461,678 (GRCm38)	missense	possibly damaging	0.76
R3009:Mpp7	UTSW	18	7,461,678 (GRCm38)	missense	possibly damaging	0.76
R3010:Mpp7	UTSW	18	7,461,678 (GRCm38)	missense	possibly damaging	0.76
R3782:Mpp7	UTSW	18	7,351,085 (GRCm38)	missense	probably damaging	0.99
R3980:Mpp7	UTSW	18	7,444,062 (GRCm38)	missense	probably benign	0.23
R4574:Mpp7	UTSW	18	7,353,228 (GRCm38)	missense	probably benign	0.02
R4772:Mpp7	UTSW	18	7,379,983 (GRCm38)	splice site	probably null
R5066:Mpp7	UTSW	18	7,513,002 (GRCm38)	missense	possibly damaging	0.95
R5437:Mpp7	UTSW	18	7,458,930 (GRCm38)	critical splice donor site	probably null
R5451:Mpp7	UTSW	18	7,442,855 (GRCm38)	missense	probably null	0.95
R5578:Mpp7	UTSW	18	7,355,101 (GRCm38)	missense	probably benign
R5651:Mpp7	UTSW	18	7,355,016 (GRCm38)	critical splice donor site	probably null
R5787:Mpp7	UTSW	18	7,461,682 (GRCm38)	missense	probably benign
R6979:Mpp7	UTSW	18	7,355,049 (GRCm38)	missense	possibly damaging	0.64
R6984:Mpp7	UTSW	18	7,441,623 (GRCm38)	missense	probably damaging	1.00
R7448:Mpp7	UTSW	18	7,351,079 (GRCm38)	missense	probably damaging	0.98
R7517:Mpp7	UTSW	18	7,440,183 (GRCm38)	nonsense	probably null
R8278:Mpp7	UTSW	18	7,444,025 (GRCm38)	missense	probably benign
R8373:Mpp7	UTSW	18	7,444,096 (GRCm38)	missense	probably damaging	1.00
R8676:Mpp7	UTSW	18	7,440,430 (GRCm38)	critical splice donor site	probably null
R9206:Mpp7	UTSW	18	7,403,327 (GRCm38)	missense	probably benign	0.12
R9208:Mpp7	UTSW	18	7,403,327 (GRCm38)	missense	probably benign	0.12
R9439:Mpp7	UTSW	18	7,461,692 (GRCm38)	nonsense	probably null
R9790:Mpp7	UTSW	18	7,355,049 (GRCm38)	missense	probably benign	0.07
R9791:Mpp7	UTSW	18	7,355,049 (GRCm38)	missense	probably benign	0.07
X0028:Mpp7	UTSW	18	7,403,273 (GRCm38)	missense	probably benign	0.04
Z1177:Mpp7	UTSW	18	7,355,062 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTGCTTCAAATAAGGCTGTGAAAG -3'
(R):5'- GAACACATAACAGCTTTAGGTAGTC -3'

Sequencing Primer
(F):5'- GGCTGTGAAAGACATAAACAAACC -3'
(R):5'- GTGAAATAATGCAGTTGTCTGGTTAC -3'

Posted On

2014-06-23