Mutagenetix > Incidental Mutations

Incidental Mutation 'R4908:Mpp4'

379148

Institutional Source

Beutler Lab

Gene Symbol

Mpp4

Ensembl Gene

ENSMUSG00000079550

Gene Name

membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)

Synonyms

DLG6

MMRRC Submission

042510-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59120935-59163389 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59125589 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 463 (E463G)

Ref Sequence

ENSEMBL: ENSMUSP00000140957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066374] [ENSMUST00000078874] [ENSMUST00000114275] [ENSMUST00000186477] [ENSMUST00000191200]

Predicted Effect

probably damaging
Transcript: ENSMUST00000066374
AA Change: E469G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070711
Gene: ENSMUSG00000079550
AA Change: E469G

Domain	Start	End	E-Value	Type
L27	27	82	4.02e-9	SMART
L27	86	139	2.49e-14	SMART
PDZ	161	234	3.57e-11	SMART
SH3	244	310	2.94e-5	SMART
low complexity region	397	406	N/A	INTRINSIC
GuKc	425	618	1.21e-50	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000078874
AA Change: E469G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077914
Gene: ENSMUSG00000079550
AA Change: E469G

Domain	Start	End	E-Value	Type
L27	27	82	4.02e-9	SMART
L27	86	139	2.49e-14	SMART
PDZ	161	234	3.57e-11	SMART
SH3	244	310	2.94e-5	SMART
low complexity region	348	362	N/A	INTRINSIC
low complexity region	397	406	N/A	INTRINSIC
GuKc	425	618	1.21e-50	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114275
AA Change: E488G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109914
Gene: ENSMUSG00000079550
AA Change: E488G

Domain	Start	End	E-Value	Type
L27	46	101	4.02e-9	SMART
L27	105	158	2.49e-14	SMART
PDZ	180	253	3.57e-11	SMART
SH3	263	329	2.94e-5	SMART
low complexity region	367	381	N/A	INTRINSIC
low complexity region	416	425	N/A	INTRINSIC
GuKc	444	637	1.21e-50	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180570

Predicted Effect

probably damaging
Transcript: ENSMUST00000186477
AA Change: E425G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140352
Gene: ENSMUSG00000079550
AA Change: E425G

Domain	Start	End	E-Value	Type
L27	27	82	1.3e-11	SMART
L27	86	139	8.6e-17	SMART
PDZ	161	234	1.8e-13	SMART
SH3	222	297	5.1e-4	SMART
low complexity region	353	362	N/A	INTRINSIC
GuKc	381	574	5.8e-53	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187825

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188494

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189096

Predicted Effect

probably damaging
Transcript: ENSMUST00000191200
AA Change: E463G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140957
Gene: ENSMUSG00000079550
AA Change: E463G

Domain	Start	End	E-Value	Type
L27	27	82	4.02e-9	SMART
L27	86	139	2.49e-14	SMART
PDZ	161	234	3.57e-11	SMART
SH3	244	310	2.94e-5	SMART
low complexity region	342	356	N/A	INTRINSIC
low complexity region	391	400	N/A	INTRINSIC
GuKc	419	612	1.21e-50	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) protein family, with an N-terminal PDZ domain, a central src homology 3 region (SH3), and a C-terminal guanylate kinase-like (GUK) domain. The protein is localized to the outer limiting membrane in the retina, and is thought to function in photoreceptor polarity and the organization of specialized intercellular junctions. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for mutations display sporadic photorecptor displacement. Correct protein localization at the presynaptic photoreceptor membrane. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	A	9: 122,948,943	I79L	probably benign	Het
Ablim2	C	T	5: 35,802,422	R73C	possibly damaging	Het
Acaa1a	G	A	9: 119,348,706	S218N	probably benign	Het
Acsm5	A	T	7: 119,538,091	I377F	probably damaging	Het
Ahnak2	T	C	12: 112,775,272	T789A	probably benign	Het
Ak9	A	T	10: 41,420,682	T1475S	unknown	Het
AU040320	A	T	4: 126,853,288	N1028Y	probably damaging	Het
Bahcc1	T	A	11: 120,287,754	S2380T	probably benign	Het
Cadps	A	G	14: 12,536,386	Y525H	probably damaging	Het
Casp8ap2	A	G	4: 32,639,905	T320A	possibly damaging	Het
Ccdc138	A	G	10: 58,544,995	N483D	possibly damaging	Het
Ccdc39	G	A	3: 33,839,093		probably null	Het
Cd300c2	T	C	11: 114,996,946	N210S	probably damaging	Het
Cd84	A	G	1: 171,872,865	D183G	probably damaging	Het
Cep95	C	T	11: 106,811,346	P390S	probably damaging	Het
Chd9	A	T	8: 91,015,249	H1622L	possibly damaging	Het
Cilp	C	A	9: 65,278,020	Q466K	probably benign	Het
Cinp	T	A	12: 110,884,053	T5S	probably damaging	Het
Clec4a2	T	C	6: 123,142,503	L238S	probably damaging	Het
Cntrob	T	C	11: 69,320,906	Y164C	probably damaging	Het
Col6a3	A	G	1: 90,807,524	L1408P	probably damaging	Het
Cul3	G	A	1: 80,280,915	S468L	possibly damaging	Het
Dnah11	T	A	12: 118,126,883	D1081V	probably benign	Het
Dnah2	C	A	11: 69,521,147	V263L	probably benign	Het
Efna3	C	G	3: 89,315,498	R185P	probably damaging	Het
F5	A	T	1: 164,211,820	I2000F	probably damaging	Het
Fancm	G	A	12: 65,094,871	G422E	probably benign	Het
Gcnt2	A	T	13: 40,860,734	D127V	probably damaging	Het
Gm21798	G	T	15: 64,817,769		probably benign	Het
Gm340	T	A	19: 41,584,162	V452D	probably benign	Het
Gramd1a	A	C	7: 31,138,867	S320R	probably benign	Het
Grn	T	C	11: 102,436,518		probably benign	Het
Helq	A	T	5: 100,762,641		probably null	Het
Herc2	A	G	7: 56,177,912	I2914V	probably benign	Het
Hnrnph1	T	C	11: 50,378,410	V27A	probably damaging	Het
Hs1bp3	G	T	12: 8,324,007	G182C	probably damaging	Het
Idnk	C	T	13: 58,163,453	P78L	probably benign	Het
Il10ra	T	C	9: 45,255,621	D544G	probably benign	Het
Inpp5e	T	C	2: 26,400,906	D383G	probably damaging	Het
Jak1	A	T	4: 101,179,714	V243D	probably damaging	Het
Kcnma1	A	T	14: 23,309,152	S1036T	probably damaging	Het
Kif26a	G	A	12: 112,157,342	C127Y	probably damaging	Het
Kif2c	T	C	4: 117,166,411	E368G	probably damaging	Het
Lasp1	T	A	11: 97,833,704		probably null	Het
Lrrtm1	C	G	6: 77,244,678	H373D	probably benign	Het
Matr3	T	A	18: 35,572,701	D226E	probably damaging	Het
Mmp17	G	A	5: 129,605,666	W456*	probably null	Het
Myh6	A	C	14: 54,956,962	F737V	probably damaging	Het
Nars2	T	A	7: 97,023,741	D271E	probably benign	Het
Nav2	A	G	7: 49,604,510	E2352G	probably damaging	Het
Nckap1	A	G	2: 80,523,374		probably null	Het
Nckap5	A	T	1: 126,027,587	S477R	probably damaging	Het
Nek11	T	G	9: 105,298,289	I319L	probably benign	Het
Neto2	A	G	8: 85,669,764	I84T	probably damaging	Het
Nlrp9a	A	T	7: 26,550,944	I45F	probably damaging	Het
Numa1	G	A	7: 102,012,805	R548H	probably damaging	Het
Olfr1154	A	T	2: 87,903,189	N162K	probably damaging	Het
Olfr1186	T	A	2: 88,525,910	I109N	probably damaging	Het
Olfr1258	A	T	2: 89,930,579	M257L	probably benign	Het
Olfr1280	T	A	2: 111,316,229	F250Y	probably benign	Het
Olfr292	A	C	7: 86,695,187	I244L	probably benign	Het
Olfr694	A	T	7: 106,689,533	L66H	probably damaging	Het
Olfr713	A	C	7: 107,036,157	M1L	probably benign	Het
Olfr843	A	G	9: 19,248,853	V182A	probably benign	Het
Pcdhb16	T	A	18: 37,479,841		probably null	Het
Pdcd10	T	C	3: 75,541,246	T4A	probably damaging	Het
Pgc	A	T	17: 47,728,894	Y71F	probably damaging	Het
Phlpp1	G	A	1: 106,389,751	G1234E	probably damaging	Het
Prr27	T	C	5: 87,843,029	F167L	probably benign	Het
Prrc2b	T	A	2: 32,226,318	S1421T	possibly damaging	Het
Pxmp2	A	G	5: 110,283,652	V75A	probably benign	Het
Pygl	A	T	12: 70,197,033	M545K	probably null	Het
Ranbp9	A	G	13: 43,421,257	Y412H	possibly damaging	Het
Rcc1	A	G	4: 132,337,753	V140A	probably damaging	Het
Reln	A	G	5: 21,979,720	V1599A	probably benign	Het
Rhebl1	A	T	15: 98,879,022	D122E	probably damaging	Het
Rock2	C	T	12: 16,959,491	L676F	probably benign	Het
Scn9a	A	T	2: 66,526,743	D1062E	probably benign	Het
Sec63	T	C	10: 42,805,190	I390T	probably damaging	Het
Slc10a6	T	C	5: 103,606,627	E346G	probably benign	Het
Slc12a3	G	A	8: 94,348,588	V737M	possibly damaging	Het
Slc12a8	T	C	16: 33,606,259		probably null	Het
Slc25a38	T	A	9: 120,120,288	I102N	probably damaging	Het
Spg7	T	A	8: 123,080,655	V390E	probably damaging	Het
Tbc1d20	T	C	2: 152,302,308	V75A	probably benign	Het
Tesk1	T	A	4: 43,445,555	C243*	probably null	Het
Ttk	T	A	9: 83,843,686	N220K	possibly damaging	Het
Ttll5	A	G	12: 85,919,174	E651G	probably benign	Het
Tubd1	T	C	11: 86,567,053	Y426H	probably damaging	Het
Uba6	T	C	5: 86,140,434		silent	Het
Ube2ql1	G	A	13: 69,704,170	R263W	probably damaging	Het
Vmn2r117	C	T	17: 23,459,838	G804D	probably damaging	Het
Vmn2r25	C	T	6: 123,828,447	E484K	probably benign	Het
Vmn2r4	T	A	3: 64,389,055	I770F	possibly damaging	Het
Vmn2r82	G	A	10: 79,378,755	V191M	probably benign	Het
Zbtb45	C	T	7: 13,008,110	V74M	probably damaging	Het
Zfp366	T	C	13: 99,234,101	V443A	possibly damaging	Het
Zfyve1	A	T	12: 83,551,571	C628S	probably damaging	Het
Zfyve26	A	T	12: 79,249,695		probably null	Het

Other mutations in Mpp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Mpp4	APN	1	59149519	critical splice donor site	probably null
IGL01346:Mpp4	APN	1	59125560	missense	probably damaging	1.00
IGL01680:Mpp4	APN	1	59130067	missense	probably benign	0.21
IGL02123:Mpp4	APN	1	59161466	splice site	probably null
IGL02299:Mpp4	APN	1	59158579	splice site	probably benign
IGL02793:Mpp4	APN	1	59136834	splice site	probably null
IGL02875:Mpp4	APN	1	59136834	splice site	probably null
E0370:Mpp4	UTSW	1	59139758	splice site	probably benign
R0391:Mpp4	UTSW	1	59143829	splice site	probably benign
R0517:Mpp4	UTSW	1	59124727	nonsense	probably null
R0725:Mpp4	UTSW	1	59121422	missense	probably damaging	1.00
R0968:Mpp4	UTSW	1	59130090	missense	probably damaging	1.00
R1753:Mpp4	UTSW	1	59144810	missense	probably null	1.00
R1956:Mpp4	UTSW	1	59158652	missense	probably benign	0.01
R1968:Mpp4	UTSW	1	59144802	missense	probably damaging	1.00
R2062:Mpp4	UTSW	1	59143782	missense	possibly damaging	0.92
R2064:Mpp4	UTSW	1	59143782	missense	possibly damaging	0.92
R2065:Mpp4	UTSW	1	59143782	missense	possibly damaging	0.92
R2068:Mpp4	UTSW	1	59143782	missense	possibly damaging	0.92
R2088:Mpp4	UTSW	1	59123465	missense	possibly damaging	0.68
R2108:Mpp4	UTSW	1	59143782	missense	possibly damaging	0.92
R2426:Mpp4	UTSW	1	59130057	missense	probably damaging	0.99
R2897:Mpp4	UTSW	1	59144694	missense	probably benign
R2898:Mpp4	UTSW	1	59144694	missense	probably benign
R3908:Mpp4	UTSW	1	59149037	missense	probably damaging	0.99
R3938:Mpp4	UTSW	1	59124683	missense	possibly damaging	0.94
R4050:Mpp4	UTSW	1	59146744	splice site	probably null
R4396:Mpp4	UTSW	1	59144802	missense	possibly damaging	0.56
R5169:Mpp4	UTSW	1	59130097	critical splice acceptor site	probably null
R5185:Mpp4	UTSW	1	59125583	missense	probably benign	0.10
R5249:Mpp4	UTSW	1	59144858	splice site	probably benign
R5333:Mpp4	UTSW	1	59157441	missense	probably benign	0.03
R5563:Mpp4	UTSW	1	59124629	critical splice donor site	probably null
R5779:Mpp4	UTSW	1	59151666	missense	probably benign	0.09
R5829:Mpp4	UTSW	1	59128942	missense	probably damaging	0.99
R5934:Mpp4	UTSW	1	59121376	missense	probably damaging	1.00
R6017:Mpp4	UTSW	1	59121359	missense	probably damaging	1.00
R6845:Mpp4	UTSW	1	59144804	missense	probably benign	0.05
R7013:Mpp4	UTSW	1	59149615	missense	probably damaging	1.00
R7292:Mpp4	UTSW	1	59143810	missense	possibly damaging	0.51
R7775:Mpp4	UTSW	1	59123513	missense	not run
R7778:Mpp4	UTSW	1	59123513	missense	not run
R7912:Mpp4	UTSW	1	59121362	missense	probably damaging	1.00
R7993:Mpp4	UTSW	1	59121362	missense	probably damaging	1.00
X0013:Mpp4	UTSW	1	59123453	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- CATAGGAAGGGATATATAGATCTTGCC -3'
(R):5'- AGTGCCCACTTTCTTACAGC -3'

Sequencing Primer
(F):5'- GCTCTGGCTCTAGAAAAATCAATG -3'
(R):5'- GCCCACTTTCTTACAGCAGTTCAAAG -3'

Posted On

2016-04-15