Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02456:Mpp2'

294157

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mpp2

Ensembl Gene

ENSMUSG00000017314

Gene Name

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

Synonyms

Dlg2, Dlgh2, Pals4, D11Bwg0652e

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02456

Quality Score

Status

Chromosome

Chromosomal Location

102057015-102088515 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 102059373 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 552 (A552S)

Ref Sequence

ENSEMBL: ENSMUSP00000097967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017453] [ENSMUST00000017458] [ENSMUST00000100398] [ENSMUST00000107163] [ENSMUST00000107164]

Predicted Effect

probably benign
Transcript: ENSMUST00000017453

SMART Domains

Protein: ENSMUSP00000017453
Gene: ENSMUSG00000017309

Domain	Start	End	E-Value	Type
IG	22	124	1.82e-6	SMART
low complexity region	142	155	N/A	INTRINSIC
transmembrane domain	163	185	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017458
AA Change: A535S

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000017458
Gene: ENSMUSG00000017314
AA Change: A535S

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

possibly damaging
Transcript: ENSMUST00000100398
AA Change: A552S

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097967
Gene: ENSMUSG00000017314
AA Change: A552S

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

probably benign
Transcript: ENSMUST00000107163

SMART Domains

Protein: ENSMUSP00000102781
Gene: ENSMUSG00000017309

Domain	Start	End	E-Value	Type
IG	22	124	1.82e-6	SMART
internal_repeat_1	154	188	2.12e-12	PROSPERO
internal_repeat_1	180	213	2.12e-12	PROSPERO
low complexity region	226	239	N/A	INTRINSIC
transmembrane domain	247	269	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107164

SMART Domains

Protein: ENSMUSP00000102782
Gene: ENSMUSG00000017309

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	22	124	1.82e-6	SMART
low complexity region	270	283	N/A	INTRINSIC
transmembrane domain	291	313	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127522

Coding Region Coverage

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,261,124	L458Q	probably damaging	Het
4921511C20Rik	T	A	X: 127,394,961	Y174*	probably null	Het
Apc	C	A	18: 34,313,882	S1243*	probably null	Het
Atp8b5	A	G	4: 43,365,578	T731A	probably benign	Het
Bcl2a1c	T	A	9: 114,330,390	F79I	probably damaging	Het
Brip1	G	T	11: 86,065,099	L863I	possibly damaging	Het
Cbx4	T	A	11: 119,082,112	K146*	probably null	Het
Ccdc36	G	T	9: 108,406,621	T208K	probably benign	Het
Ces1a	C	T	8: 93,039,498	V163I	possibly damaging	Het
Ces5a	C	T	8: 93,528,644		probably benign	Het
Cfhr1	A	C	1: 139,556,393	N128K	possibly damaging	Het
Clcn3	T	C	8: 60,941,357	D46G	probably damaging	Het
Cntnap1	T	G	11: 101,178,129	I166S	probably benign	Het
Cntnap3	A	T	13: 64,799,058		probably benign	Het
Cntnap5c	T	A	17: 58,407,744		probably benign	Het
Ddx23	A	T	15: 98,647,549	V626E	probably damaging	Het
Gcm2	T	C	13: 41,103,001	Y424C	probably benign	Het
Gm9964	A	G	11: 79,296,370	F84L	probably damaging	Het
Grn	T	A	11: 102,436,104	D509E	probably benign	Het
Kdm5c	G	A	X: 152,246,318	D343N	probably damaging	Het
Ly75	C	T	2: 60,293,781	M1717I	probably benign	Het
Map1a	C	A	2: 121,298,653	P133T	probably damaging	Het
Mtr	T	C	13: 12,199,094	I897M	probably damaging	Het
Npas3	A	T	12: 54,048,767	I337F	probably damaging	Het
Nup85	T	C	11: 115,581,865		probably benign	Het
Olfr118	T	A	17: 37,672,449	M142K	possibly damaging	Het
Olfr325	T	A	11: 58,581,198	L118H	possibly damaging	Het
Olfr517	A	G	7: 108,869,050	Y35H	probably benign	Het
Olfr630	T	A	7: 103,755,493	I31F	possibly damaging	Het
Olfr683	T	C	7: 105,143,759	N178S	probably damaging	Het
Pdia4	A	T	6: 47,803,495	D301E	probably benign	Het
Phf2	C	A	13: 48,828,846	G134C	unknown	Het
Polr2h	T	A	16: 20,720,602	L76H	probably damaging	Het
Rbm47	G	A	5: 66,027,021	R80C	probably damaging	Het
Sfmbt1	T	C	14: 30,785,880	S286P	probably damaging	Het
Slc5a12	T	C	2: 110,616,834		probably benign	Het
Tacc2	T	C	7: 130,626,261	S1559P	probably benign	Het
Tbc1d16	T	G	11: 119,210,546	H46P	probably damaging	Het
Tbck	A	G	3: 132,734,714		probably benign	Het
Tmtc4	A	T	14: 122,925,962		probably null	Het
Ttc13	T	C	8: 124,690,361		probably null	Het
Ttc17	T	C	2: 94,362,785		probably benign	Het
Vmn1r121	T	A	7: 21,098,513	M1L	possibly damaging	Het
Vps13c	T	C	9: 67,952,976	S2825P	probably damaging	Het
Zan	A	C	5: 137,446,844	S1718A	unknown	Het
Zfp39	G	T	11: 58,902,800	Y37*	probably null	Het
Zfp407	T	C	18: 84,558,641	N1449S	probably damaging	Het
Zhx2	C	A	15: 57,823,639	D801E	possibly damaging	Het

Other mutations in Mpp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01367:Mpp2	APN	11	102063309	missense	probably damaging	1.00
IGL01564:Mpp2	APN	11	102061519	missense	probably benign	0.01
IGL02158:Mpp2	APN	11	102063262	missense	probably benign	0.01
IGL03271:Mpp2	APN	11	102063423	splice site	probably benign
R0488:Mpp2	UTSW	11	102061601	missense	possibly damaging	0.64
R0512:Mpp2	UTSW	11	102062290	missense	possibly damaging	0.64
R0960:Mpp2	UTSW	11	102061585	missense	possibly damaging	0.80
R1572:Mpp2	UTSW	11	102060548	missense	probably benign	0.07
R1740:Mpp2	UTSW	11	102062396	splice site	probably null
R1867:Mpp2	UTSW	11	102064667	missense	probably benign	0.09
R2133:Mpp2	UTSW	11	102064595	missense	probably benign	0.01
R2277:Mpp2	UTSW	11	102064301	missense	probably damaging	0.97
R2279:Mpp2	UTSW	11	102064301	missense	probably damaging	0.97
R2313:Mpp2	UTSW	11	102062072	missense	possibly damaging	0.77
R2882:Mpp2	UTSW	11	102064633	missense	probably benign	0.00
R3429:Mpp2	UTSW	11	102085315	missense	probably benign
R4719:Mpp2	UTSW	11	102064433	missense	possibly damaging	0.93
R4959:Mpp2	UTSW	11	102063291	missense	probably damaging	1.00
R4968:Mpp2	UTSW	11	102064298	missense	probably benign	0.31
R5715:Mpp2	UTSW	11	102062261	missense	probably damaging	1.00
R5778:Mpp2	UTSW	11	102064443	missense	probably benign	0.06
R6034:Mpp2	UTSW	11	102061634	missense	possibly damaging	0.88
R6034:Mpp2	UTSW	11	102061634	missense	possibly damaging	0.88
R6045:Mpp2	UTSW	11	102059354	missense	probably benign	0.05
R6275:Mpp2	UTSW	11	102060969	missense	probably damaging	1.00
R6458:Mpp2	UTSW	11	102080769	missense	probably benign	0.01
R6884:Mpp2	UTSW	11	102062078	missense	probably benign	0.23
R6980:Mpp2	UTSW	11	102059328	missense	probably damaging	1.00
R7699:Mpp2	UTSW	11	102059435	missense	probably damaging	0.99
X0067:Mpp2	UTSW	11	102064385	missense	probably benign	0.44

Posted On

2015-04-16