Mutagenetix > Incidental Mutation

Incidental Mutation 'R4410:Mpp6'

327855

Institutional Source

Beutler Lab

Gene Symbol

Mpp6

Ensembl Gene

ENSMUSG00000038388

Gene Name

membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)

Synonyms

P55t, Pals2

MMRRC Submission

041692-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4410 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50110241-50198939 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 50198268 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 520 (Q520*)

Ref Sequence

ENSEMBL: ENSMUSP00000144737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036225] [ENSMUST00000036236] [ENSMUST00000101405] [ENSMUST00000165099] [ENSMUST00000166318] [ENSMUST00000204545]

AlphaFold

Q9JLB0

Predicted Effect

probably null
Transcript: ENSMUST00000036225
AA Change: Q534*

SMART Domains

Protein: ENSMUSP00000038772
Gene: ENSMUSG00000038388
AA Change: Q534*

Domain	Start	End	E-Value	Type
L27	1	55	1.08e-9	SMART
L27	56	110	7.05e-14	SMART
PDZ	138	208	1.45e-11	SMART
SH3	231	296	7.52e-12	SMART
GuKc	350	541	8.92e-72	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000036236
AA Change: Q520*

SMART Domains

Protein: ENSMUSP00000039314
Gene: ENSMUSG00000038388
AA Change: Q520*

Domain	Start	End	E-Value	Type
L27	1	55	1.08e-9	SMART
L27	56	110	7.05e-14	SMART
PDZ	138	208	1.45e-11	SMART
SH3	217	282	7.52e-12	SMART
GuKc	336	527	8.92e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000101405

SMART Domains

Protein: ENSMUSP00000098952
Gene: ENSMUSG00000029821

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	1	399	2e-126	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165099

SMART Domains

Protein: ENSMUSP00000130522
Gene: ENSMUSG00000029821

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	1	424	1.7e-136	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000166318
AA Change: Q534*

SMART Domains

Protein: ENSMUSP00000125880
Gene: ENSMUSG00000038388
AA Change: Q534*

Domain	Start	End	E-Value	Type
L27	1	55	1.08e-9	SMART
L27	56	110	7.05e-14	SMART
PDZ	138	208	1.45e-11	SMART
SH3	231	296	7.52e-12	SMART
GuKc	350	541	8.92e-72	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167063

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204417

Predicted Effect

probably null
Transcript: ENSMUST00000204545
AA Change: Q520*

SMART Domains

Protein: ENSMUSP00000144737
Gene: ENSMUSG00000038388
AA Change: Q520*

Domain	Start	End	E-Value	Type
L27	1	55	1.08e-9	SMART
L27	56	110	7.05e-14	SMART
PDZ	138	208	1.45e-11	SMART
SH3	217	282	7.52e-12	SMART
GuKc	336	527	8.92e-72	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

96% (46/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transmembrane, cytoskeletal, and cytoplasmic signaling proteins. All MAGUKs contain a PDZ-SH3-GUK core and are divided into 4 subfamilies, DLG-like (see DLG1; MIM 601014), ZO1-like (see TJP1; MIM 601009), p55-like (see MPP1; MIM 305360), and LIN2-like (see CASK; MIM 300172), based on their size and the presence of additional domains. MPP6 is a member of the p55-like MAGUK subfamily (Tseng et al., 2001 [PubMed 11311936]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	A	T	15: 76,725,512		probably benign	Het
Arrb1	G	T	7: 99,598,296		probably benign	Het
Cadps	A	G	14: 12,822,323	M139T	probably damaging	Het
Casr	A	G	16: 36,500,341	C482R	probably benign	Het
Cdca4	A	T	12: 112,821,879	H76Q	probably benign	Het
Ddias	A	G	7: 92,858,079	L876P	probably benign	Het
Dnah9	T	C	11: 66,085,477	S1249G	possibly damaging	Het
Dnttip1	A	G	2: 164,767,819		probably benign	Het
Eme2	A	G	17: 24,893,624	S160P	probably benign	Het
Fbxw24	A	T	9: 109,608,188	D210E	probably damaging	Het
Folr2	T	C	7: 101,840,674	E129G	probably damaging	Het
Gm7682	A	T	5: 94,445,861	Q15L	probably benign	Het
Herc6	T	A	6: 57,659,679	N793K	possibly damaging	Het
Iqcg	T	G	16: 33,030,816	K262Q	possibly damaging	Het
Lhfpl3	A	G	5: 22,775,692		probably benign	Het
Lmod2	A	C	6: 24,604,630	S535R	probably damaging	Het
Lrp1b	T	A	2: 40,665,082	S342C	possibly damaging	Het
Lrrn3	T	A	12: 41,452,584	Y578F	possibly damaging	Het
Map3k4	T	A	17: 12,248,998	R1050W	probably damaging	Het
Muc6	T	A	7: 141,637,663	T2301S	possibly damaging	Het
Mycbp2	T	C	14: 103,135,266	E4048G	probably damaging	Het
Myh3	G	C	11: 67,085,032	E297Q	possibly damaging	Het
Nkain3	A	G	4: 20,778,284	V11A	probably benign	Het
Olfr1189	G	A	2: 88,592,421	V206I	probably benign	Het
P3h2	G	C	16: 26,105,290	R132G	possibly damaging	Het
Phgdh	A	G	3: 98,314,275	M447T	probably benign	Het
Pmfbp1	G	A	8: 109,532,063	A667T	probably benign	Het
Psmd2	T	G	16: 20,655,026	C230G	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Slc37a3	T	A	6: 39,338,813	Y443F	probably benign	Het
Sorl1	C	A	9: 42,003,992	G1314*	probably null	Het
Spag7	T	C	11: 70,664,862	D83G	probably damaging	Het
St7	C	T	6: 17,854,933	R267*	probably null	Het
Syne2	C	T	12: 76,094,393	S99L	probably damaging	Het
Tacc2	T	G	7: 130,742,211	S2533R	possibly damaging	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Uaca	T	G	9: 60,869,891	V518G	probably damaging	Het
Usp43	T	C	11: 67,855,890	E992G	probably benign	Het
Vmn1r55	A	G	7: 5,147,076	V116A	probably benign	Het
Wdr3	G	A	3: 100,140,227	T844M	probably benign	Het
Wdr7	T	A	18: 63,778,249	M904K	probably damaging	Het
Zbtb39	A	G	10: 127,742,827	I423M	possibly damaging	Het
Zmym1	A	T	4: 127,048,104	C830*	probably null	Het

Other mutations in Mpp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Mpp6	APN	6	50196589	missense	probably benign	0.26
IGL00944:Mpp6	APN	6	50163456	missense	possibly damaging	0.96
IGL01576:Mpp6	APN	6	50163492	missense	probably benign	0.02
IGL01639:Mpp6	APN	6	50178480	missense	probably damaging	0.99
IGL02541:Mpp6	APN	6	50183727	missense	probably benign	0.40
IGL02668:Mpp6	APN	6	50194529	missense	probably damaging	1.00
R1033:Mpp6	UTSW	6	50183736	missense	probably damaging	1.00
R1066:Mpp6	UTSW	6	50145867	missense	possibly damaging	0.94
R1542:Mpp6	UTSW	6	50198326	missense	probably damaging	1.00
R1799:Mpp6	UTSW	6	50196545	missense	probably damaging	0.97
R1817:Mpp6	UTSW	6	50163431	missense	probably benign	0.06
R1818:Mpp6	UTSW	6	50163431	missense	probably benign	0.06
R5162:Mpp6	UTSW	6	50178515	missense	probably damaging	1.00
R5591:Mpp6	UTSW	6	50180179	missense	probably benign	0.11
R6182:Mpp6	UTSW	6	50198226	missense	probably benign
R6500:Mpp6	UTSW	6	50198166	missense	possibly damaging	0.67
R6762:Mpp6	UTSW	6	50180438	splice site	probably null
R6888:Mpp6	UTSW	6	50180277	critical splice donor site	probably null
R6963:Mpp6	UTSW	6	50163655	splice site	probably null
R7002:Mpp6	UTSW	6	50162662	missense	probably benign
R7629:Mpp6	UTSW	6	50196623	missense	probably benign	0.07
R8159:Mpp6	UTSW	6	50194547	missense	probably benign	0.00
R9190:Mpp6	UTSW	6	50180239	missense	probably damaging	1.00
R9266:Mpp6	UTSW	6	50163483	missense	probably benign	0.07
R9604:Mpp6	UTSW	6	50196617	missense	probably benign	0.11
X0027:Mpp6	UTSW	6	50163531	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- GAACTCGTATCTGAATTCCAACAG -3'
(R):5'- AAAATGCCTTGATGCGCAG -3'

Sequencing Primer
(F):5'- AACAGATATCAACGCCCTTATTTC -3'
(R):5'- AGGCGCCTTCCACCTCTG -3'

Posted On

2015-07-07