Mutagenetix > Incidental Mutation

Incidental Mutation 'R1740:Mpp2'

200300

Institutional Source

Beutler Lab

Gene Symbol

Mpp2

Ensembl Gene

ENSMUSG00000017314

Gene Name

membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)

Synonyms

Pals4, Dlgh2, D11Bwg0652e, Dlg2

MMRRC Submission

039772-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1740 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101947841-101979341 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 101953222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017458] [ENSMUST00000100398]

AlphaFold

Q9WV34

Predicted Effect

probably null
Transcript: ENSMUST00000017458

SMART Domains

Protein: ENSMUSP00000017458
Gene: ENSMUSG00000017314

Domain	Start	End	E-Value	Type
L27	11	66	1.19e-11	SMART
L27	67	121	2.46e-13	SMART
PDZ	149	219	1.89e-10	SMART
SH3	228	292	9.77e-11	SMART
GuKc	349	540	6.55e-79	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000100398

SMART Domains

Protein: ENSMUSP00000097967
Gene: ENSMUSG00000017314

Domain	Start	End	E-Value	Type
low complexity region	6	24	N/A	INTRINSIC
L27	28	83	1.19e-11	SMART
L27	84	138	2.46e-13	SMART
PDZ	166	236	1.89e-10	SMART
SH3	245	309	9.77e-11	SMART
GuKc	366	557	6.55e-79	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147126

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.0%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Palmitoylated membrane protein 2 is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. Palmitoylated membrane protein 2 contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,549 (GRCm39)	C417*	probably null	Het
4930548G14Rik	G	A	15: 46,488,885 (GRCm39)		noncoding transcript	Het
Abcc12	T	A	8: 87,232,126 (GRCm39)	K1311*	probably null	Het
Abcc12	T	C	8: 87,236,400 (GRCm39)	D1138G	possibly damaging	Het
Adam32	A	G	8: 25,411,314 (GRCm39)	S116P	probably damaging	Het
Arhgef26	C	T	3: 62,331,004 (GRCm39)	L39F	probably damaging	Het
Babam1	T	C	8: 71,855,663 (GRCm39)	I252T	probably damaging	Het
Btf3	C	T	13: 98,452,804 (GRCm39)	M1I	probably null	Het
Ccdc61	G	T	7: 18,637,862 (GRCm39)		probably benign	Het
Ccdc89	C	T	7: 90,075,946 (GRCm39)	S52F	probably damaging	Het
Cds2	T	A	2: 132,144,133 (GRCm39)	I320N	possibly damaging	Het
Cebpe	T	C	14: 54,949,399 (GRCm39)	Y6C	probably damaging	Het
Cep250	T	A	2: 155,815,276 (GRCm39)	I598N	probably damaging	Het
Cep350	T	A	1: 155,804,579 (GRCm39)	I835F	probably damaging	Het
Ces3a	T	C	8: 105,775,317 (GRCm39)	L22P	probably damaging	Het
Cfap221	T	C	1: 119,873,558 (GRCm39)	S490G	probably benign	Het
Cyp2j11	A	G	4: 96,207,613 (GRCm39)	V234A	probably benign	Het
Dgat1	T	C	15: 76,386,929 (GRCm39)	H399R	probably damaging	Het
Dnah10	A	T	5: 124,850,254 (GRCm39)		probably null	Het
Ebpl	T	G	14: 61,578,656 (GRCm39)	K193T	probably benign	Het
Entpd5	T	C	12: 84,443,545 (GRCm39)	N66S	probably benign	Het
Fcgbp	G	T	7: 27,800,674 (GRCm39)	G1240V	possibly damaging	Het
Gabra5	A	G	7: 57,071,590 (GRCm39)	S209P	probably benign	Het
Glce	A	T	9: 61,977,815 (GRCm39)	V23D	probably damaging	Het
Gm14226	GACTGTTAC	GAC	2: 154,866,851 (GRCm39)		probably benign	Het
Gtf2h1	A	G	7: 46,461,890 (GRCm39)	N296S	probably null	Het
Herc6	T	C	6: 57,629,050 (GRCm39)	S654P	probably benign	Het
Kcnk3	A	T	5: 30,779,321 (GRCm39)	M124L	possibly damaging	Het
Lamb2	T	G	9: 108,359,127 (GRCm39)	V281G	probably damaging	Het
Lctl	A	T	9: 64,040,389 (GRCm39)	D444V	probably damaging	Het
Mcm2	A	G	6: 88,861,026 (GRCm39)	F891L	probably damaging	Het
Mcub	A	T	3: 129,712,376 (GRCm39)	H166Q	probably benign	Het
Mical2	G	T	7: 111,933,043 (GRCm39)	R739L	probably benign	Het
Mideas	T	C	12: 84,219,676 (GRCm39)	E426G	probably damaging	Het
Mkrn2	G	T	6: 115,590,330 (GRCm39)	A229S	probably damaging	Het
Mmp7	A	G	9: 7,695,278 (GRCm39)	Y80C	possibly damaging	Het
Msh6	C	A	17: 88,293,150 (GRCm39)	T635K	possibly damaging	Het
Mvd	T	A	8: 123,163,286 (GRCm39)	T315S	probably benign	Het
Myocd	C	T	11: 65,109,347 (GRCm39)		probably benign	Het
Nav1	C	T	1: 135,386,127 (GRCm39)		probably null	Het
Or4k48	T	A	2: 111,476,214 (GRCm39)	I43F	probably damaging	Het
Pde4b	A	T	4: 102,344,548 (GRCm39)	D141V	probably damaging	Het
Pdgfrb	A	T	18: 61,214,905 (GRCm39)	D978V	possibly damaging	Het
Prss55	T	C	14: 64,313,129 (GRCm39)	T252A	probably damaging	Het
Psd3	A	T	8: 68,573,491 (GRCm39)	V230E	probably damaging	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Ptprn	A	G	1: 75,238,694 (GRCm39)	V82A	probably damaging	Het
Ptpru	G	T	4: 131,520,989 (GRCm39)		probably null	Het
Raph1	T	A	1: 60,558,183 (GRCm39)	K258*	probably null	Het
Rnf25	A	G	1: 74,637,886 (GRCm39)	V28A	probably damaging	Het
Slc25a4	C	T	8: 46,661,540 (GRCm39)	V212M	probably benign	Het
Slc39a3	T	C	10: 80,867,342 (GRCm39)	S135G	probably damaging	Het
Slco6d1	A	G	1: 98,356,097 (GRCm39)	I220M	probably damaging	Het
Smim19	G	T	8: 22,963,544 (GRCm39)	Y21*	probably null	Het
Speer4f1	A	C	5: 17,683,759 (GRCm39)	Y141S	probably damaging	Het
Srgap2	G	A	1: 131,217,126 (GRCm39)	P1062L	probably benign	Het
Stra8	A	T	6: 34,904,654 (GRCm39)		probably benign	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tmem40	A	G	6: 115,715,960 (GRCm39)	S76P	probably benign	Het
Unc13b	C	T	4: 43,240,285 (GRCm39)	R3569W	probably damaging	Het
Vmn1r128	A	T	7: 21,083,869 (GRCm39)	Q191L	probably benign	Het
Washc2	T	A	6: 116,208,593 (GRCm39)		probably benign	Het

Other mutations in Mpp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01367:Mpp2	APN	11	101,954,135 (GRCm39)	missense	probably damaging	1.00
IGL01564:Mpp2	APN	11	101,952,345 (GRCm39)	missense	probably benign	0.01
IGL02158:Mpp2	APN	11	101,954,088 (GRCm39)	missense	probably benign	0.01
IGL02456:Mpp2	APN	11	101,950,199 (GRCm39)	missense	possibly damaging	0.72
IGL03271:Mpp2	APN	11	101,954,249 (GRCm39)	splice site	probably benign
R0488:Mpp2	UTSW	11	101,952,427 (GRCm39)	missense	possibly damaging	0.64
R0512:Mpp2	UTSW	11	101,953,116 (GRCm39)	missense	possibly damaging	0.64
R0960:Mpp2	UTSW	11	101,952,411 (GRCm39)	missense	possibly damaging	0.80
R1572:Mpp2	UTSW	11	101,951,374 (GRCm39)	missense	probably benign	0.07
R1867:Mpp2	UTSW	11	101,955,493 (GRCm39)	missense	probably benign	0.09
R2133:Mpp2	UTSW	11	101,955,421 (GRCm39)	missense	probably benign	0.01
R2277:Mpp2	UTSW	11	101,955,127 (GRCm39)	missense	probably damaging	0.97
R2279:Mpp2	UTSW	11	101,955,127 (GRCm39)	missense	probably damaging	0.97
R2313:Mpp2	UTSW	11	101,952,898 (GRCm39)	missense	possibly damaging	0.77
R2882:Mpp2	UTSW	11	101,955,459 (GRCm39)	missense	probably benign	0.00
R3429:Mpp2	UTSW	11	101,976,141 (GRCm39)	missense	probably benign
R4719:Mpp2	UTSW	11	101,955,259 (GRCm39)	missense	possibly damaging	0.93
R4959:Mpp2	UTSW	11	101,954,117 (GRCm39)	missense	probably damaging	1.00
R4968:Mpp2	UTSW	11	101,955,124 (GRCm39)	missense	probably benign	0.31
R5715:Mpp2	UTSW	11	101,953,087 (GRCm39)	missense	probably damaging	1.00
R5778:Mpp2	UTSW	11	101,955,269 (GRCm39)	missense	probably benign	0.06
R6034:Mpp2	UTSW	11	101,952,460 (GRCm39)	missense	possibly damaging	0.88
R6034:Mpp2	UTSW	11	101,952,460 (GRCm39)	missense	possibly damaging	0.88
R6045:Mpp2	UTSW	11	101,950,180 (GRCm39)	missense	probably benign	0.05
R6275:Mpp2	UTSW	11	101,951,795 (GRCm39)	missense	probably damaging	1.00
R6458:Mpp2	UTSW	11	101,971,595 (GRCm39)	missense	probably benign	0.01
R6884:Mpp2	UTSW	11	101,952,904 (GRCm39)	missense	probably benign	0.23
R6980:Mpp2	UTSW	11	101,950,154 (GRCm39)	missense	probably damaging	1.00
R7699:Mpp2	UTSW	11	101,950,261 (GRCm39)	missense	probably damaging	0.99
R8746:Mpp2	UTSW	11	101,954,040 (GRCm39)	missense	probably damaging	1.00
R8752:Mpp2	UTSW	11	101,976,129 (GRCm39)	missense	probably benign
R9031:Mpp2	UTSW	11	101,954,099 (GRCm39)	missense	probably benign
R9338:Mpp2	UTSW	11	101,951,249 (GRCm39)	missense	probably benign	0.10
R9503:Mpp2	UTSW	11	101,955,468 (GRCm39)	missense	probably benign	0.28
R9508:Mpp2	UTSW	11	101,951,692 (GRCm39)	missense	probably damaging	1.00
X0067:Mpp2	UTSW	11	101,955,211 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- GGTCCCGCTTGACAAATGCTTTC -3'
(R):5'- TAAGGTGTGGTTTCTCACCTGCCC -3'

Sequencing Primer
(F):5'- CCTGCACCGTACTTAGAGATG -3'
(R):5'- TGGTAGCAGCTTCCTCATTG -3'

Posted On

2014-05-23