Mutagenetix > Incidental Mutations

Incidental Mutation 'R0391:Mpp4'

31660

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

038597-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0391 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59120935-59163389 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 59143829 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140957 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000066374

SMART Domains

Protein: ENSMUSP00000070711
Gene: ENSMUSG00000079550

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 benign
Transcript: ENSMUST00000078874

SMART Domains

Protein: ENSMUSP00000077914
Gene: ENSMUSG00000079550

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 benign
Transcript: ENSMUST00000114275

SMART Domains

Protein: ENSMUSP00000109914
Gene: ENSMUSG00000079550

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

probably benign
Transcript: ENSMUST00000186477

SMART Domains

Protein: ENSMUSP00000140352
Gene: ENSMUSG00000079550

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: ENSMUST00000186790

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187825

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188494

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189743

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189884

Predicted Effect

probably benign
Transcript: ENSMUST00000191200

SMART Domains

Protein: ENSMUSP00000140957
Gene: ENSMUSG00000079550

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.8%

Validation Efficiency

97% (97/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	A	4: 122,701,177		probably benign	Het
Abcc2	G	A	19: 43,821,605		probably benign	Het
Abcc8	C	G	7: 46,122,173	G838A	probably damaging	Het
Akr1c21	G	A	13: 4,581,200	A245T	probably damaging	Het
Anapc15-ps	T	C	10: 95,673,277	E47G	probably damaging	Het
Apoa1	A	G	9: 46,229,842	T79A	probably benign	Het
Atp6v1b1	A	G	6: 83,756,921	H378R	possibly damaging	Het
C4b	A	G	17: 34,735,614		probably benign	Het
Catsperd	A	T	17: 56,662,821	E638D	probably benign	Het
Cckar	C	T	5: 53,706,253		probably null	Het
Cfap100	C	T	6: 90,405,339		probably benign	Het
Chd1	G	T	17: 15,749,894	G970C	probably damaging	Het
Col14a1	A	G	15: 55,446,259		probably benign	Het
Col17a1	C	T	19: 47,663,824	V698M	probably damaging	Het
Cpeb1	T	C	7: 81,361,725	D156G	possibly damaging	Het
Cryl1	A	G	14: 57,303,775	Y151H	possibly damaging	Het
Csmd3	C	A	15: 47,657,573	V1881L	probably damaging	Het
Ctnnal1	C	T	4: 56,847,921	A73T	probably damaging	Het
Cyp2c37	T	C	19: 39,994,506	S180P	probably damaging	Het
Cyp2c54	T	C	19: 40,072,169	T123A	possibly damaging	Het
Dennd6b	T	C	15: 89,187,214	D304G	probably damaging	Het
Dnmt3l	T	C	10: 78,051,916		probably benign	Het
Eci1	G	A	17: 24,433,260		probably null	Het
Efhc1	A	G	1: 20,960,188	Y115C	probably damaging	Het
Ern1	T	A	11: 106,407,178	K706*	probably null	Het
Fam129c	T	A	8: 71,602,499		probably benign	Het
Ghrl	T	C	6: 113,719,338	E31G	probably damaging	Het
Gpr108	A	C	17: 57,243,101	V179G	probably benign	Het
Henmt1	A	G	3: 108,958,535		probably benign	Het
Ift172	A	G	5: 31,286,667	V69A	probably damaging	Het
Il17ra	T	C	6: 120,476,979		probably benign	Het
Il17rb	T	C	14: 30,004,347	N95D	probably benign	Het
Il17rb	G	T	14: 30,006,155		probably null	Het
Iqub	G	A	6: 24,446,155	L757F	probably benign	Het
Itpr1	T	C	6: 108,378,167	V473A	probably benign	Het
Itpr2	T	G	6: 146,229,773	N1978H	probably damaging	Het
Klk1b26	T	A	7: 44,012,727	F3Y	probably damaging	Het
Lars	A	G	18: 42,251,363	V50A	probably benign	Het
Lax1	G	T	1: 133,680,066	H312Q	probably benign	Het
Lctl	T	C	9: 64,122,314		probably benign	Het
Lrp2	T	A	2: 69,456,858	D3745V	probably damaging	Het
Lrp2	G	A	2: 69,460,337		probably benign	Het
Lvrn	A	T	18: 46,850,466	H92L	probably benign	Het
March1	A	G	8: 66,418,973	T385A	probably damaging	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Mbd5	T	C	2: 49,272,416	V970A	possibly damaging	Het
Mccc1	A	G	3: 35,963,570		probably benign	Het
Mrnip	G	A	11: 50,199,920	A304T	probably damaging	Het
Muc5b	T	C	7: 141,865,082	S3922P	possibly damaging	Het
Myh3	T	A	11: 67,096,507		probably benign	Het
Nbea	A	T	3: 56,037,277	H555Q	probably damaging	Het
Nlrp9c	A	T	7: 26,371,476		probably benign	Het
Nmur1	A	T	1: 86,387,678	V178E	probably damaging	Het
Nod2	T	G	8: 88,663,778	S238A	probably benign	Het
Ogfod1	A	T	8: 94,063,023	T451S	probably damaging	Het
Olfr145	G	A	9: 37,897,842	G146D	probably benign	Het
Olfr23	T	C	11: 73,941,109	F288L	probably damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr716	T	A	7: 107,148,187	Y290*	probably null	Het
Pcdh20	T	C	14: 88,468,668	I399V	probably benign	Het
Pdlim1	G	T	19: 40,243,573	H120Q	probably damaging	Het
Plg	T	C	17: 12,419,081	V798A	probably damaging	Het
Polr2c	A	G	8: 94,857,775	I39V	possibly damaging	Het
Ppfia2	C	A	10: 106,830,714		probably benign	Het
Ppp1r3a	A	T	6: 14,719,697	I406N	probably benign	Het
Psg28	A	T	7: 18,426,173	M366K	probably benign	Het
Rad54b	T	C	4: 11,601,702	I419T	probably damaging	Het
Rnf43	A	G	11: 87,731,282	Q403R	possibly damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Slc28a3	A	G	13: 58,569,415		probably benign	Het
Smad2	A	T	18: 76,289,037		probably null	Het
Smad4	G	A	18: 73,658,649	P274S	probably benign	Het
Smchd1	A	T	17: 71,403,154	V906D	probably damaging	Het
Soat2	C	A	15: 102,158,753	R320S	possibly damaging	Het
Spata33	C	T	8: 123,221,887	A57V	probably damaging	Het
Stab1	A	G	14: 31,143,418	L1814P	probably benign	Het
Stab2	T	C	10: 86,947,144	K680R	probably benign	Het
Stil	A	G	4: 115,041,172		probably null	Het
Sympk	T	A	7: 19,046,849	L759H	probably benign	Het
Tet1	A	T	10: 62,814,546		probably null	Het
Tfpi2	A	T	6: 3,965,460	N117K	probably benign	Het
Tle3	A	G	9: 61,416,661	Y766C	probably damaging	Het
Trpt1	C	A	19: 6,997,930		probably null	Het
Tshz1	A	G	18: 84,016,049	F78S	possibly damaging	Het
Ttc1	T	C	11: 43,738,808	D177G	probably damaging	Het
Ttc13	T	A	8: 124,674,401	Y741F	probably damaging	Het
Ulk3	C	T	9: 57,594,832	S462L	probably benign	Het
Utrn	C	T	10: 12,525,333		probably benign	Het
V1rd19	A	C	7: 24,003,585	T159P	probably damaging	Het
Vars	T	C	17: 35,011,486	V515A	possibly damaging	Het
Vmn1r85	A	G	7: 13,084,588	Y210H	probably benign	Het
Vmn2r89	A	G	14: 51,455,978	T262A	probably damaging	Het
Vps53	G	A	11: 76,121,579	T209I	probably benign	Het
Wdfy2	T	C	14: 62,925,133	F95L	possibly damaging	Het
Wwp1	G	T	4: 19,627,911	S694Y	probably damaging	Het
Zbtb8b	T	A	4: 129,432,670	D201V	probably damaging	Het
Zmym5	A	C	14: 56,804,451	N123K	possibly damaging	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
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
R4908:Mpp4	UTSW	1	59125589	missense	probably damaging	1.00
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
R8354:Mpp4	UTSW	1	59130065	missense	probably damaging	1.00
R8524:Mpp4	UTSW	1	59144681	missense	probably damaging	1.00
X0013:Mpp4	UTSW	1	59123453	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- GCCTGAGAGATGGAAGCACCATTC -3'
(R):5'- CAGCATCAGCAGCTTATTGGTATTGTG -3'

Sequencing Primer
(F):5'- GGAAGCACCATTCTCAAATGTG -3'
(R):5'- gaggtaatggcagaaaacgg -3'

Posted On

2013-04-24