Mutagenetix > Incidental Mutation

Incidental Mutation 'R2068:Mpp4'

226807

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

040073-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2068 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59160094-59202548 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59182941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 322 (P322L)

Ref Sequence

ENSEMBL: ENSMUSP00000070711 (fasta)

Gene Model

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

AlphaFold

Q6P7F1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066374
AA Change: P322L

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000070711
Gene: ENSMUSG00000079550
AA Change: P322L

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

possibly damaging
Transcript: ENSMUST00000078874
AA Change: P322L

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000077914
Gene: ENSMUSG00000079550
AA Change: P322L

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
AA Change: P341L

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109914
Gene: ENSMUSG00000079550
AA Change: P341L

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

possibly damaging
Transcript: ENSMUST00000186477
AA Change: P309L

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140352
Gene: ENSMUSG00000079550
AA Change: P309L

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

possibly damaging
Transcript: ENSMUST00000191200
AA Change: P322L

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140957
Gene: ENSMUSG00000079550
AA Change: P322L

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

0.2408

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
Abcb5	A	T	12: 118,904,303 (GRCm39)	C162*	probably null	Het
Akr1c19	A	T	13: 4,288,391 (GRCm39)		probably null	Het
Akt3	A	G	1: 176,930,551 (GRCm39)	S136P	possibly damaging	Het
Alox12e	G	A	11: 70,206,828 (GRCm39)	R620W	probably damaging	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Bsn	T	G	9: 107,987,883 (GRCm39)		probably benign	Het
Bsn	T	A	9: 108,003,749 (GRCm39)	M219L	possibly damaging	Het
Btnl9	T	C	11: 49,060,390 (GRCm39)	T453A	probably damaging	Het
C6	G	T	15: 4,820,552 (GRCm39)	C521F	probably damaging	Het
Ccnt1	A	T	15: 98,449,823 (GRCm39)	H156Q	probably benign	Het
Cdh20	A	T	1: 110,065,666 (GRCm39)	R647*	probably null	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Cmya5	T	A	13: 93,227,032 (GRCm39)	K2685N	possibly damaging	Het
Cnksr2	A	C	X: 156,728,302 (GRCm39)	S224R	possibly damaging	Het
Cntn1	T	C	15: 92,215,943 (GRCm39)	V992A	possibly damaging	Het
Dapk1	G	A	13: 60,899,022 (GRCm39)	D831N	probably damaging	Het
Dnaaf3	T	C	7: 4,526,798 (GRCm39)	I426M	possibly damaging	Het
Dnah6	A	G	6: 72,998,165 (GRCm39)	Y4034H	probably benign	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Endov	T	C	11: 119,390,408 (GRCm39)	F12S	probably damaging	Het
Eps8	A	T	6: 137,499,172 (GRCm39)	W239R	probably benign	Het
Fance	T	C	17: 28,539,799 (GRCm39)	F83S	possibly damaging	Het
Fn1	A	G	1: 71,639,598 (GRCm39)	V1731A	probably damaging	Het
Gak	G	T	5: 108,718,091 (GRCm39)	T1244K	probably benign	Het
Gas8	T	A	8: 124,253,276 (GRCm39)	I208N	probably damaging	Het
Gm9830	A	T	9: 44,375,579 (GRCm39)		noncoding transcript	Het
Gm9837	T	A	11: 53,361,092 (GRCm39)		probably benign	Het
Gtf2f2	A	G	14: 76,155,136 (GRCm39)	S142P	possibly damaging	Het
Hdac3	C	A	18: 38,076,569 (GRCm39)	G257V	probably damaging	Het
Heg1	A	G	16: 33,547,960 (GRCm39)	T916A	probably benign	Het
Herc2	G	T	7: 55,782,245 (GRCm39)	G1311C	probably damaging	Het
Htt	C	T	5: 34,983,326 (GRCm39)	T975I	probably benign	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Itm2b	T	C	14: 73,600,575 (GRCm39)	K242E	probably damaging	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Klrg2	G	A	6: 38,613,928 (GRCm39)	T25I	probably benign	Het
Lcn5	G	A	2: 25,548,053 (GRCm39)	V21M	probably damaging	Het
Liat1	T	C	11: 75,891,077 (GRCm39)	S64P	possibly damaging	Het
Lonp2	A	G	8: 87,392,403 (GRCm39)	T490A	probably damaging	Het
Lrrn3	A	T	12: 41,502,995 (GRCm39)	S441T	probably damaging	Het
Mpdz	G	A	4: 81,254,067 (GRCm39)	R1W	probably null	Het
Mpzl2	G	A	9: 44,955,169 (GRCm39)		probably null	Het
Naf1	A	G	8: 67,340,432 (GRCm39)	D414G	probably damaging	Het
Notch3	A	G	17: 32,354,482 (GRCm39)	C1748R	probably benign	Het
Nup133	C	A	8: 124,641,314 (GRCm39)	D869Y	probably damaging	Het
Oasl2	A	C	5: 115,049,298 (GRCm39)	D466A	probably benign	Het
Opa3	T	C	7: 18,978,739 (GRCm39)	I68T	possibly damaging	Het
Or2ab1	A	G	11: 58,488,396 (GRCm39)	N58S	probably damaging	Het
Or2ag1	T	A	7: 106,313,373 (GRCm39)	R172W	probably benign	Het
Or2d3c	T	G	7: 106,526,162 (GRCm39)	Y168S	probably damaging	Het
Or5p63	T	C	7: 107,811,547 (GRCm39)	Y63C	probably damaging	Het
Or8g37	T	C	9: 39,731,846 (GRCm39)	F304L	probably benign	Het
Pcdh8	A	T	14: 80,005,651 (GRCm39)	S912R	probably damaging	Het
Pdzrn3	T	C	6: 101,127,660 (GRCm39)	E1002G	probably damaging	Het
Pik3c2a	A	T	7: 115,972,126 (GRCm39)	L768*	probably null	Het
Plxna4	A	G	6: 32,494,551 (GRCm39)	S22P	possibly damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Pramel11	T	C	4: 143,623,482 (GRCm39)	M231V	probably damaging	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Pum1	A	G	4: 130,501,745 (GRCm39)	T845A	probably benign	Het
Rad21l	T	C	2: 151,509,927 (GRCm39)	H58R	probably damaging	Het
Rgma	A	C	7: 73,059,379 (GRCm39)	D161A	probably damaging	Het
Scai	T	C	2: 39,013,025 (GRCm39)	Y135C	probably damaging	Het
Scn2a	T	A	2: 65,582,417 (GRCm39)	H1588Q	probably benign	Het
Sdha	A	T	13: 74,472,087 (GRCm39)		probably null	Het
Slc12a3	A	G	8: 95,072,456 (GRCm39)	D658G	probably damaging	Het
Slc5a3	A	G	16: 91,874,128 (GRCm39)	S62G	probably damaging	Het
Spata13	GTTAGGCT	GT	14: 60,998,320 (GRCm39)		probably benign	Het
Sulf1	A	G	1: 12,910,627 (GRCm39)	I649V	probably damaging	Het
Thbs1	C	T	2: 117,954,018 (GRCm39)	Q1090*	probably null	Het
Tjp2	C	A	19: 24,099,687 (GRCm39)	R400L	probably benign	Het
Tle4	A	T	19: 14,427,113 (GRCm39)	Y769*	probably null	Het
Trmt5	A	T	12: 73,331,444 (GRCm39)		probably null	Het
Troap	T	C	15: 98,980,344 (GRCm39)	L508P	probably benign	Het
Ubac2	T	A	14: 122,145,691 (GRCm39)	Y116*	probably null	Het
Ugt2b36	T	C	5: 87,240,100 (GRCm39)	E95G	probably benign	Het
Ush1c	T	C	7: 45,878,905 (GRCm39)	Y74C	probably damaging	Het
Usp36	T	C	11: 118,165,844 (GRCm39)	T160A	possibly damaging	Het
Usp54	G	T	14: 20,627,273 (GRCm39)	P462T	probably damaging	Het
Vmn1r55	A	G	7: 5,150,048 (GRCm39)	V125A	possibly damaging	Het
Vps11	A	G	9: 44,269,613 (GRCm39)	S213P	probably damaging	Het
Zfp668	C	T	7: 127,465,837 (GRCm39)	G449D	probably benign	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
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
R5249:Mpp4	UTSW	1	59,184,017 (GRCm39)	splice site	probably benign
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'- AGGGTAATGACTTAAACCCACGG -3'
(R):5'- TGGTGTGCTGGAGCCAAATG -3'

Sequencing Primer
(F):5'- CCTCCATCAGATTGGCATGATTGAG -3'
(R):5'- TGCTGGAGCCAAATGACAAAGTC -3'

Posted On

2014-09-17