Mutagenetix > Incidental Mutation

Incidental Mutation 'R5249:Mpp4'

398717

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

042820-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5249 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59160094-59202548 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 59184017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140957 (fasta)

Gene Model

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

AlphaFold

Q6P7F1

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189884

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (93/95)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	A	G	9: 99,502,284 (GRCm39)	H148R	probably damaging	Het
Acrbp	A	G	6: 125,037,885 (GRCm39)	D394G	probably damaging	Het
Adam18	T	C	8: 25,115,868 (GRCm39)	T609A	probably benign	Het
Adam25	T	A	8: 41,208,991 (GRCm39)	N752K	probably benign	Het
Ano6	A	C	15: 95,811,469 (GRCm39)	S176R	probably benign	Het
Ano7	T	C	1: 93,302,918 (GRCm39)	S19P	probably benign	Het
Ap1b1	A	G	11: 4,976,364 (GRCm39)	E437G	probably damaging	Het
Arfgap2	T	A	2: 91,095,982 (GRCm39)	C46*	probably null	Het
Arhgef26	T	A	3: 62,247,981 (GRCm39)	L355Q	probably damaging	Het
B4galnt4	C	T	7: 140,644,983 (GRCm39)	T219I	probably damaging	Het
Bap1	C	T	14: 30,979,243 (GRCm39)		probably benign	Het
Catip	T	G	1: 74,401,954 (GRCm39)	L43R	probably damaging	Het
Ccdc177	G	A	12: 80,805,282 (GRCm39)	R331C	unknown	Het
Cep85l	T	C	10: 53,195,690 (GRCm39)		probably null	Het
Cfap206	T	A	4: 34,714,502 (GRCm39)	Q398L	probably benign	Het
Clec18a	A	G	8: 111,800,368 (GRCm39)	C352R	probably damaging	Het
Clic6	A	T	16: 92,336,339 (GRCm39)	Y549F	probably damaging	Het
Cpne9	C	T	6: 113,270,034 (GRCm39)		probably benign	Het
Cyb5r3	A	C	15: 83,042,836 (GRCm39)		probably benign	Het
Dnah6	C	T	6: 73,090,471 (GRCm39)	R2293K	probably damaging	Het
Dnmbp	C	A	19: 43,890,879 (GRCm39)	R296L	probably damaging	Het
Dtwd1	C	A	2: 125,996,694 (GRCm39)	Q60K	probably benign	Het
Esyt1	C	A	10: 128,352,443 (GRCm39)	V723L	probably benign	Het
Fbxo42	T	C	4: 140,926,335 (GRCm39)	L339P	probably damaging	Het
Furin	A	T	7: 80,043,169 (GRCm39)	N347K	probably damaging	Het
Fzd7	T	C	1: 59,522,522 (GRCm39)	M135T	probably damaging	Het
Garin1b	A	G	6: 29,323,896 (GRCm39)	D207G	probably damaging	Het
Hlf	A	G	11: 90,278,632 (GRCm39)	M144T	probably benign	Het
Hyal5	C	T	6: 24,876,648 (GRCm39)	Q174*	probably null	Het
Kcnb1	T	A	2: 166,947,103 (GRCm39)	M582L	possibly damaging	Het
Kdm5d	T	C	Y: 916,692 (GRCm39)	Y391H	probably damaging	Het
Khdc4	T	A	3: 88,604,032 (GRCm39)	I283N	probably damaging	Het
Kif21b	C	T	1: 136,096,966 (GRCm39)	T1297M	probably damaging	Het
Krt8	T	G	15: 101,906,875 (GRCm39)	N317T	possibly damaging	Het
Lctl	G	T	9: 64,045,196 (GRCm39)	V372L	probably benign	Het
Lig1	C	T	7: 13,042,432 (GRCm39)	H822Y	possibly damaging	Het
Lrrc4b	A	G	7: 44,111,988 (GRCm39)	D620G	possibly damaging	Het
Mboat4	C	T	8: 34,582,275 (GRCm39)	H10Y	probably benign	Het
Med1	A	T	11: 98,048,066 (GRCm39)	M910K	probably benign	Het
Mia2	A	T	12: 59,154,911 (GRCm39)	D209V	probably damaging	Het
Mrgprb1	A	T	7: 48,097,225 (GRCm39)	V229E	possibly damaging	Het
Mtor	T	A	4: 148,548,189 (GRCm39)	C485S	probably damaging	Het
Mx1	T	C	16: 97,258,628 (GRCm39)	D23G	probably damaging	Het
Myrfl	T	C	10: 116,619,138 (GRCm39)	D740G	probably benign	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Nav2	G	A	7: 49,185,661 (GRCm39)	V874I	probably damaging	Het
Ntrk3	A	T	7: 78,110,914 (GRCm39)	N262K	possibly damaging	Het
Opa1	A	T	16: 29,437,077 (GRCm39)	D699V	probably damaging	Het
Or10u4	C	T	10: 129,802,078 (GRCm39)	A164T	probably benign	Het
Or8b51	A	G	9: 38,569,374 (GRCm39)	C105R	possibly damaging	Het
Otud7a	A	G	7: 63,407,181 (GRCm39)	N495D	possibly damaging	Het
Pcsk9	T	C	4: 106,320,950 (GRCm39)	D53G	probably benign	Het
Pdcd5	A	G	7: 35,346,421 (GRCm39)		probably benign	Het
Phf21a	C	T	2: 92,058,822 (GRCm39)	P28L	probably damaging	Het
Pitpnm1	T	A	19: 4,158,130 (GRCm39)	D573E	probably damaging	Het
Ppp1r35	C	T	5: 137,777,406 (GRCm39)		probably benign	Het
Ptprq	T	C	10: 107,535,496 (GRCm39)	Q423R	probably damaging	Het
Pum1	A	T	4: 130,490,125 (GRCm39)	Y699F	probably benign	Het
Rabgef1	A	G	5: 130,241,841 (GRCm39)	D415G	probably benign	Het
Rapgef6	A	G	11: 54,413,943 (GRCm39)	E23G	probably benign	Het
Rpia	G	T	6: 70,760,563 (GRCm39)	C121*	probably null	Het
Sanbr	A	G	11: 23,525,483 (GRCm39)	*719Q	probably null	Het
Serpinb13	T	A	1: 106,926,427 (GRCm39)	W201R	probably damaging	Het
Sh3bp4	T	C	1: 89,065,456 (GRCm39)	C17R	probably damaging	Het
Sh3d21	A	G	4: 126,055,858 (GRCm39)		probably benign	Het
Slamf6	A	C	1: 171,764,249 (GRCm39)	N214T	probably damaging	Het
Slc7a2	T	C	8: 41,361,130 (GRCm39)	Y365H	possibly damaging	Het
Sox18	T	C	2: 181,312,971 (GRCm39)		probably null	Het
Spink7	A	T	18: 62,725,507 (GRCm39)	F79I	possibly damaging	Het
Srpk3	C	T	X: 72,818,555 (GRCm39)	R82*	probably null	Het
Sspo	A	T	6: 48,470,244 (GRCm39)	H4561L	probably damaging	Het
Tcaf1	T	C	6: 42,653,793 (GRCm39)	K700R	probably benign	Het
Tcf25	G	T	8: 124,115,372 (GRCm39)	R203L	probably damaging	Het
Tcp11	T	C	17: 28,290,757 (GRCm39)	I201V	possibly damaging	Het
Tex2	T	C	11: 106,437,615 (GRCm39)	D685G	unknown	Het
Themis	G	T	10: 28,637,195 (GRCm39)	E100*	probably null	Het
Tmem52b	G	A	6: 129,491,221 (GRCm39)		probably null	Het
Tnr	C	T	1: 159,512,226 (GRCm39)		probably benign	Het
Tox3	T	C	8: 90,975,444 (GRCm39)	I396V	probably benign	Het
Tpm2	T	A	4: 43,514,828 (GRCm39)	E269V	probably benign	Het
Tulp1	C	T	17: 28,581,651 (GRCm39)		probably benign	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Ube2j2	A	C	4: 156,033,515 (GRCm39)	K30Q	possibly damaging	Het
Usp19	T	A	9: 108,369,807 (GRCm39)	M1K	probably null	Het
Vmn2r52	C	A	7: 9,910,197 (GRCm39)	R6L	probably benign	Het
Zbed4	G	A	15: 88,665,290 (GRCm39)	V453M	probably benign	Het
Zfp319	T	C	8: 96,055,099 (GRCm39)	E368G	probably benign	Het
Zfp366	A	C	13: 99,366,117 (GRCm39)	E426A	probably damaging	Het
Zfp687	A	T	3: 94,916,777 (GRCm39)	I783N	probably damaging	Het

Other mutations in Mpp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Mpp4	APN	1	59,188,678 (GRCm39)	critical splice donor site	probably null
IGL01346:Mpp4	APN	1	59,164,719 (GRCm39)	missense	probably damaging	1.00
IGL01680:Mpp4	APN	1	59,169,226 (GRCm39)	missense	probably benign	0.21
IGL02123:Mpp4	APN	1	59,200,625 (GRCm39)	splice site	probably null
IGL02299:Mpp4	APN	1	59,197,738 (GRCm39)	splice site	probably benign
IGL02793:Mpp4	APN	1	59,175,993 (GRCm39)	splice site	probably null
IGL02875:Mpp4	APN	1	59,175,993 (GRCm39)	splice site	probably null
E0370:Mpp4	UTSW	1	59,178,917 (GRCm39)	splice site	probably benign
R0391:Mpp4	UTSW	1	59,182,988 (GRCm39)	splice site	probably benign
R0517:Mpp4	UTSW	1	59,163,886 (GRCm39)	nonsense	probably null
R0725:Mpp4	UTSW	1	59,160,581 (GRCm39)	missense	probably damaging	1.00
R0968:Mpp4	UTSW	1	59,169,249 (GRCm39)	missense	probably damaging	1.00
R1753:Mpp4	UTSW	1	59,183,969 (GRCm39)	missense	probably null	1.00
R1956:Mpp4	UTSW	1	59,197,811 (GRCm39)	missense	probably benign	0.01
R1968:Mpp4	UTSW	1	59,183,961 (GRCm39)	missense	probably damaging	1.00
R2062:Mpp4	UTSW	1	59,182,941 (GRCm39)	missense	possibly damaging	0.92
R2064:Mpp4	UTSW	1	59,182,941 (GRCm39)	missense	possibly damaging	0.92
R2065:Mpp4	UTSW	1	59,182,941 (GRCm39)	missense	possibly damaging	0.92
R2068:Mpp4	UTSW	1	59,182,941 (GRCm39)	missense	possibly damaging	0.92
R2088:Mpp4	UTSW	1	59,162,624 (GRCm39)	missense	possibly damaging	0.68
R2108:Mpp4	UTSW	1	59,182,941 (GRCm39)	missense	possibly damaging	0.92
R2426:Mpp4	UTSW	1	59,169,216 (GRCm39)	missense	probably damaging	0.99
R2897:Mpp4	UTSW	1	59,183,853 (GRCm39)	missense	probably benign
R2898:Mpp4	UTSW	1	59,183,853 (GRCm39)	missense	probably benign
R3908:Mpp4	UTSW	1	59,188,196 (GRCm39)	missense	probably damaging	0.99
R3938:Mpp4	UTSW	1	59,163,842 (GRCm39)	missense	possibly damaging	0.94
R4050:Mpp4	UTSW	1	59,185,903 (GRCm39)	splice site	probably null
R4396:Mpp4	UTSW	1	59,183,961 (GRCm39)	missense	possibly damaging	0.56
R4908:Mpp4	UTSW	1	59,164,748 (GRCm39)	missense	probably damaging	1.00
R5169:Mpp4	UTSW	1	59,169,256 (GRCm39)	critical splice acceptor site	probably null
R5185:Mpp4	UTSW	1	59,164,742 (GRCm39)	missense	probably benign	0.10
R5333:Mpp4	UTSW	1	59,196,600 (GRCm39)	missense	probably benign	0.03
R5563:Mpp4	UTSW	1	59,163,788 (GRCm39)	critical splice donor site	probably null
R5779:Mpp4	UTSW	1	59,190,825 (GRCm39)	missense	probably benign	0.09
R5829:Mpp4	UTSW	1	59,168,101 (GRCm39)	missense	probably damaging	0.99
R5934:Mpp4	UTSW	1	59,160,535 (GRCm39)	missense	probably damaging	1.00
R6017:Mpp4	UTSW	1	59,160,518 (GRCm39)	missense	probably damaging	1.00
R6845:Mpp4	UTSW	1	59,183,963 (GRCm39)	missense	probably benign	0.05
R7013:Mpp4	UTSW	1	59,188,774 (GRCm39)	missense	probably damaging	1.00
R7292:Mpp4	UTSW	1	59,182,969 (GRCm39)	missense	possibly damaging	0.51
R7775:Mpp4	UTSW	1	59,162,672 (GRCm39)	missense	not run
R7778:Mpp4	UTSW	1	59,162,672 (GRCm39)	missense	not run
R7912:Mpp4	UTSW	1	59,160,521 (GRCm39)	missense	probably damaging	1.00
R8354:Mpp4	UTSW	1	59,169,224 (GRCm39)	missense	probably damaging	1.00
R8524:Mpp4	UTSW	1	59,183,840 (GRCm39)	missense	probably damaging	1.00
R8894:Mpp4	UTSW	1	59,197,743 (GRCm39)	critical splice donor site	probably null
R9231:Mpp4	UTSW	1	59,163,833 (GRCm39)	missense	probably damaging	1.00
X0013:Mpp4	UTSW	1	59,162,612 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- CTTACCTCTTCAGAAGGTGGTTAG -3'
(R):5'- TTTCTCTAAGCCCCATGACAGAG -3'

Sequencing Primer
(F):5'- GATTAGCCCAGCACAGATGG -3'
(R):5'- CCATGACAGAGATGCCAACGG -3'

Posted On

2016-07-06