Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02656:Mpp3'

302344

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mpp3

Ensembl Gene

ENSMUSG00000052373

Gene Name

membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)

Synonyms

Dlgh3

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02656

Quality Score

Status

Chromosome

Chromosomal Location

101999652-102028461 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102008601 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 365 (S365P)

Ref Sequence

ENSEMBL: ENSMUSP00000102786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062801] [ENSMUST00000100400] [ENSMUST00000107168]

Predicted Effect

probably benign
Transcript: ENSMUST00000062801
AA Change: S365P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000055469
Gene: ENSMUSG00000052373
AA Change: S365P

Domain	Start	End	E-Value	Type
L27	10	64	1.5e-8	SMART
L27	68	121	1.18e-15	SMART
PDZ	145	218	1.06e-13	SMART
SH3	229	295	7.7e-9	SMART
GuKc	384	573	1.76e-70	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100400
AA Change: S365P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097969
Gene: ENSMUSG00000052373
AA Change: S365P

Domain	Start	End	E-Value	Type
L27	10	64	1.5e-8	SMART
L27	68	121	1.18e-15	SMART
PDZ	145	218	1.06e-13	SMART
SH3	229	295	7.7e-9	SMART
GuKc	384	573	1.76e-70	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107168
AA Change: S365P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102786
Gene: ENSMUSG00000052373
AA Change: S365P

Domain	Start	End	E-Value	Type
L27	10	64	1.5e-8	SMART
L27	68	121	1.18e-15	SMART
PDZ	145	218	1.06e-13	SMART
SH3	229	295	7.7e-9	SMART
GuKc	384	573	1.76e-70	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127053

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132094

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product 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. This protein 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. Alternatively spliced transcript variants have been identified. One transcript variant is experimentally supported, but it doesn't encode a protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	G	T	14: 31,702,240	A981D	possibly damaging	Het
Ccdc69	G	T	11: 55,052,437	Q114K	possibly damaging	Het
Cct5	A	T	15: 31,597,430	D66E	probably damaging	Het
Ces2e	G	T	8: 104,927,056	R42I	possibly damaging	Het
Cib2	T	G	9: 54,545,898	D178A	probably damaging	Het
Cldn7	G	A	11: 69,967,008	V97I	probably benign	Het
Dok3	A	T	13: 55,528,480	I12N	probably damaging	Het
Fndc5	T	A	4: 129,139,446	V102E	probably damaging	Het
Gas2	T	C	7: 51,943,744	S191P	probably benign	Het
Herc6	T	A	6: 57,611,836		probably null	Het
Krt18	A	G	15: 102,030,922	T277A	probably benign	Het
Msmo1	T	C	8: 64,727,872	T3A	probably benign	Het
Olfr1509	G	T	14: 52,450,709	A99S	possibly damaging	Het
Olfr1537	T	A	9: 39,238,160	E88V	probably benign	Het
Olfr394	A	G	11: 73,888,039	F111S	probably damaging	Het
Pex19	C	A	1: 172,130,685	A77E	probably benign	Het
Phf20l1	A	G	15: 66,629,827	D620G	probably damaging	Het
Prr5	A	G	15: 84,699,136	D105G	probably damaging	Het
Rab12	T	A	17: 66,506,054	K88M	probably damaging	Het
Rictor	T	C	15: 6,776,920	V673A	probably damaging	Het
Rps26	A	G	10: 128,625,257	S88P	possibly damaging	Het
Sema5a	T	A	15: 32,631,285	S605T	possibly damaging	Het
Slc35a4	T	C	18: 36,682,447	M110T	probably damaging	Het
Sowahb	T	C	5: 93,043,247	S538G	probably benign	Het
Srrt	T	A	5: 137,299,676		probably benign	Het
Ssbp2	G	A	13: 91,669,752		probably benign	Het
Supt20	C	T	3: 54,708,395	R236W	probably damaging	Het
Tenm4	A	G	7: 96,885,433	D1791G	probably damaging	Het
Tgm6	G	A	2: 130,145,103	G497D	probably damaging	Het
Trim12c	C	T	7: 104,341,203	V356I	probably damaging	Het
Vwce	T	A	19: 10,664,352	I814K	probably benign	Het

Other mutations in Mpp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Mpp3	APN	11	102002103	missense	possibly damaging	0.76
IGL01337:Mpp3	APN	11	102000585	missense	probably benign
IGL01393:Mpp3	APN	11	102025478	missense	probably damaging	0.99
IGL01544:Mpp3	APN	11	102018659	missense	possibly damaging	0.91
IGL02152:Mpp3	APN	11	102025390	nonsense	probably null
IGL02441:Mpp3	APN	11	102009675	missense	probably benign	0.00
R0013:Mpp3	UTSW	11	102005425	missense	probably benign	0.27
R0117:Mpp3	UTSW	11	102000573	missense	probably damaging	1.00
R0564:Mpp3	UTSW	11	102005347	missense	possibly damaging	0.87
R1372:Mpp3	UTSW	11	102000575	missense	probably damaging	0.96
R1531:Mpp3	UTSW	11	102008649	missense	probably benign
R1639:Mpp3	UTSW	11	102023442	missense	probably damaging	1.00
R1720:Mpp3	UTSW	11	102025756	start codon destroyed	possibly damaging	0.79
R1968:Mpp3	UTSW	11	102018552	intron	probably benign
R2064:Mpp3	UTSW	11	102000690	missense	probably benign	0.01
R2363:Mpp3	UTSW	11	102020486	missense	probably damaging	1.00
R3775:Mpp3	UTSW	11	102023367	nonsense	probably null
R3776:Mpp3	UTSW	11	102023367	nonsense	probably null
R4208:Mpp3	UTSW	11	102000600	missense	probably benign
R4287:Mpp3	UTSW	11	102023463	missense	probably damaging	1.00
R4327:Mpp3	UTSW	11	102023511	intron	probably benign
R4329:Mpp3	UTSW	11	102023511	intron	probably benign
R4367:Mpp3	UTSW	11	102023420	missense	probably benign	0.01
R4856:Mpp3	UTSW	11	102025136	missense	probably benign
R4886:Mpp3	UTSW	11	102025136	missense	probably benign
R4904:Mpp3	UTSW	11	102000587	missense	probably benign	0.01
R4946:Mpp3	UTSW	11	102005022	missense	probably benign	0.01
R5405:Mpp3	UTSW	11	102010221	missense	probably benign
R5935:Mpp3	UTSW	11	102025415	missense	probably damaging	1.00
R6020:Mpp3	UTSW	11	102018539	intron	probably benign
R6056:Mpp3	UTSW	11	102011689	splice site	probably null
R6151:Mpp3	UTSW	11	102008566	missense	probably benign	0.11
R6677:Mpp3	UTSW	11	102008618	missense	probably benign
R6784:Mpp3	UTSW	11	102002148	critical splice acceptor site	probably null
R6855:Mpp3	UTSW	11	102013325	missense	probably benign	0.09
R7227:Mpp3	UTSW	11	102005078	missense	possibly damaging	0.90
R7635:Mpp3	UTSW	11	102025383	missense	probably damaging	0.97
R7974:Mpp3	UTSW	11	102008354	critical splice donor site	probably null
R8330:Mpp3	UTSW	11	102008627	missense	probably benign	0.20
R8331:Mpp3	UTSW	11	102011715	splice site	probably null
Z1176:Mpp3	UTSW	11	102008356	missense	probably damaging	0.96

Posted On

2015-04-16