Mutagenetix > Incidental Mutation

Incidental Mutation 'R1753:Mpp4'

193683

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

039785-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1753 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59160094-59202548 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59183969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 244 (D244G)

Ref Sequence

ENSEMBL: ENSMUSP00000140352 (fasta)

Gene Model

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

AlphaFold

Q6P7F1

Predicted Effect

probably damaging
Transcript: ENSMUST00000066374
AA Change: D257G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000070711
Gene: ENSMUSG00000079550
AA Change: D257G

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: D257G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077914
Gene: ENSMUSG00000079550
AA Change: D257G

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: D276G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109914
Gene: ENSMUSG00000079550
AA Change: D276G

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 null
Transcript: ENSMUST00000186477
AA Change: D244G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140352
Gene: ENSMUSG00000079550
AA Change: D244G

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

probably null
Transcript: ENSMUST00000186477
AA Change: D244G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140352
Gene: ENSMUSG00000079550
AA Change: D244G

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

probably null
Transcript: ENSMUST00000186477
AA Change: D244G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140352
Gene: ENSMUSG00000079550
AA Change: D244G

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

probably damaging
Transcript: ENSMUST00000191200
AA Change: D257G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140957
Gene: ENSMUSG00000079550
AA Change: D257G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189743

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,864,542 (GRCm39)	F409I	probably benign	Het
Adamts19	A	C	18: 59,140,444 (GRCm39)	I848L	possibly damaging	Het
Adamts5	T	C	16: 85,696,240 (GRCm39)	S306G	probably damaging	Het
Adamts8	T	G	9: 30,865,910 (GRCm39)	I486S	probably benign	Het
Adgrg5	T	C	8: 95,668,680 (GRCm39)	F499L	possibly damaging	Het
Akr1c21	T	A	13: 4,627,134 (GRCm39)	C145*	probably null	Het
Anp32b	T	G	4: 46,460,241 (GRCm39)		probably null	Het
Arhgap31	A	G	16: 38,421,974 (GRCm39)	V1364A	possibly damaging	Het
C2cd6	T	C	1: 59,133,992 (GRCm39)	R10G	possibly damaging	Het
Cacna2d1	A	G	5: 16,507,352 (GRCm39)	E367G	possibly damaging	Het
Ccdc81	C	T	7: 89,515,769 (GRCm39)	E637K	probably benign	Het
Cd2	A	T	3: 101,194,815 (GRCm39)	M91K	possibly damaging	Het
Cdc16	C	A	8: 13,814,688 (GRCm39)	Y157*	probably null	Het
Celsr3	G	T	9: 108,709,056 (GRCm39)	V1301F	probably damaging	Het
Cep164	C	T	9: 45,704,235 (GRCm39)	G961S	probably damaging	Het
Cep290	T	C	10: 100,349,843 (GRCm39)	V630A	probably benign	Het
Chd5	C	T	4: 152,463,272 (GRCm39)	S1451F	probably damaging	Het
Cldn23	A	C	8: 36,293,140 (GRCm39)	L116R	possibly damaging	Het
Cngb1	A	T	8: 96,024,401 (GRCm39)		probably benign	Het
Cpb1	G	T	3: 20,320,405 (GRCm39)	N151K	possibly damaging	Het
Cpn2	A	G	16: 30,078,918 (GRCm39)	F261S	probably damaging	Het
Crlf3	A	C	11: 79,948,698 (GRCm39)	V249G	probably damaging	Het
Csmd1	A	T	8: 16,207,134 (GRCm39)	Y1298*	probably null	Het
Cstf2t	C	A	19: 31,061,085 (GRCm39)	P207Q	possibly damaging	Het
Cym	A	C	3: 107,120,741 (GRCm39)	L288R	possibly damaging	Het
Cyp2j12	C	T	4: 96,009,669 (GRCm39)		probably null	Het
Dlx6	C	T	6: 6,863,665 (GRCm39)	Q96*	probably null	Het
Dnah7b	T	C	1: 46,361,495 (GRCm39)	F3465S	probably damaging	Het
Dnmt3a	A	T	12: 3,923,342 (GRCm39)	M181L	possibly damaging	Het
Duox1	T	A	2: 122,163,910 (GRCm39)	M859K	probably damaging	Het
Eif2b4	A	T	5: 31,350,284 (GRCm39)	S13T	probably benign	Het
Ercc6	T	C	14: 32,298,956 (GRCm39)	V1448A	probably benign	Het
Esp24	A	G	17: 39,350,893 (GRCm39)	E31G	possibly damaging	Het
F2rl2	T	A	13: 95,837,969 (GRCm39)	M338K	probably benign	Het
Fbxl9	A	T	8: 106,039,824 (GRCm39)	V517E	probably damaging	Het
Fgfbp1	A	C	5: 44,137,265 (GRCm39)	L9R	possibly damaging	Het
Gal3st2b	A	T	1: 93,868,338 (GRCm39)	N188Y	probably damaging	Het
Gpr179	G	C	11: 97,237,404 (GRCm39)	C372W	probably damaging	Het
Grn	T	G	11: 102,324,093 (GRCm39)	C61G	probably damaging	Het
Herc1	T	G	9: 66,376,292 (GRCm39)	C3371G	probably damaging	Het
Herc1	T	C	9: 66,409,366 (GRCm39)		probably null	Het
Hmcn1	C	T	1: 150,462,219 (GRCm39)	G5153D	possibly damaging	Het
Ifi35	A	T	11: 101,347,461 (GRCm39)	R31W	probably damaging	Het
Ifit1bl1	T	A	19: 34,571,260 (GRCm39)	H399L	probably benign	Het
Irx3	G	A	8: 92,527,362 (GRCm39)	P114L	probably damaging	Het
Kat6a	T	A	8: 23,425,813 (GRCm39)	D1119E	probably benign	Het
Kmt2d	G	T	15: 98,741,363 (GRCm39)		probably benign	Het
Kng1	A	T	16: 22,897,869 (GRCm39)	H423L	possibly damaging	Het
Lrp2	T	A	2: 69,326,833 (GRCm39)	Q1746L	possibly damaging	Het
Lrrc63	A	T	14: 75,323,784 (GRCm39)		probably null	Het
Mad2l1	T	A	6: 66,516,797 (GRCm39)	V163E	possibly damaging	Het
Map3k19	A	G	1: 127,750,417 (GRCm39)	M978T	probably benign	Het
Mon1a	A	C	9: 107,778,562 (GRCm39)	N262T	probably damaging	Het
Mpo	A	G	11: 87,686,707 (GRCm39)	N85D	probably benign	Het
Mstn	A	G	1: 53,105,717 (GRCm39)	Y353C	probably damaging	Het
Mx1	T	A	16: 97,255,358 (GRCm39)	N232Y	probably damaging	Het
Mycs	T	C	X: 5,380,157 (GRCm39)	R308G	probably benign	Het
Myh11	A	T	16: 14,095,734 (GRCm39)	D9E	probably benign	Het
Nfe2l3	A	T	6: 51,410,392 (GRCm39)	Q169L	probably null	Het
Nr5a1	G	T	2: 38,598,431 (GRCm39)	T122N	possibly damaging	Het
Nras	A	G	3: 102,966,295 (GRCm39)	T20A	probably damaging	Het
Obp2b	T	A	2: 25,628,652 (GRCm39)		probably null	Het
Or1l4	A	G	2: 37,091,439 (GRCm39)	Y62C	probably damaging	Het
Or51g2	T	C	7: 102,622,263 (GRCm39)	N312S	probably benign	Het
Or5aq6	T	C	2: 86,923,571 (GRCm39)	T57A	probably damaging	Het
Or5w18	T	A	2: 87,633,106 (GRCm39)	F124L	probably benign	Het
Or9s14	G	A	1: 92,536,122 (GRCm39)	V188M	probably benign	Het
Pcdh17	A	T	14: 84,715,094 (GRCm39)	T920S	probably benign	Het
Pcdh9	T	C	14: 94,124,661 (GRCm39)	D503G	probably benign	Het
Pcdhb12	C	T	18: 37,569,724 (GRCm39)	T290I	probably damaging	Het
Pde6b	C	A	5: 108,536,557 (GRCm39)	C84*	probably null	Het
Pex1	A	T	5: 3,680,044 (GRCm39)	N914I	probably damaging	Het
Pign	A	G	1: 105,517,042 (GRCm39)	V528A	possibly damaging	Het
Pkhd1	T	G	1: 20,604,129 (GRCm39)	D1187A	possibly damaging	Het
Ppip5k1	T	C	2: 121,173,112 (GRCm39)	K489E	probably damaging	Het
Prob1	T	C	18: 35,786,305 (GRCm39)	T650A	possibly damaging	Het
Radil	T	C	5: 142,481,091 (GRCm39)	Y572C	probably damaging	Het
Rapgef2	A	G	3: 78,996,098 (GRCm39)	I555T	possibly damaging	Het
Rgs5	G	A	1: 169,510,386 (GRCm39)		probably null	Het
Rnaset2b	G	A	17: 7,248,506 (GRCm39)		probably null	Het
S1pr1	A	G	3: 115,505,587 (GRCm39)	S336P	probably benign	Het
Slc24a5	A	G	2: 124,925,115 (GRCm39)	E252G	possibly damaging	Het
Slc34a2	A	T	5: 53,218,733 (GRCm39)	I184F	probably benign	Het
Slc35a3	A	G	3: 116,471,597 (GRCm39)	V224A	possibly damaging	Het
Slc39a9	A	G	12: 80,723,976 (GRCm39)	H211R	probably damaging	Het
Slu7	A	G	11: 43,330,095 (GRCm39)	N174S	probably benign	Het
Smarcd3	A	T	5: 24,800,820 (GRCm39)	Y131*	probably null	Het
Syne1	A	G	10: 5,317,621 (GRCm39)	M491T	probably benign	Het
Tars1	G	A	15: 11,394,329 (GRCm39)	Q103*	probably null	Het
Tmem132d	C	A	5: 127,866,919 (GRCm39)	E660D	probably benign	Het
Ttn	T	C	2: 76,575,387 (GRCm39)	T16842A	probably damaging	Het
Ttn	T	C	2: 76,643,316 (GRCm39)	E13201G	probably damaging	Het
Ttn	T	A	2: 76,582,605 (GRCm39)	M22763L	probably benign	Het
Ubp1	A	T	9: 113,785,037 (GRCm39)	I117L	possibly damaging	Het
Usp24	T	A	4: 106,234,756 (GRCm39)	H954Q	probably benign	Het
Vmn1r174	G	A	7: 23,453,622 (GRCm39)	R96H	probably benign	Het
Vmn2r63	G	A	7: 42,577,669 (GRCm39)	Q290*	probably null	Het
Vnn3	T	C	10: 23,741,718 (GRCm39)	I341T	probably benign	Het
Wbp2nl	A	G	15: 82,189,945 (GRCm39)	T46A	probably damaging	Het
Wdr48	G	T	9: 119,753,313 (GRCm39)	E625*	probably null	Het
Wdr6	C	T	9: 108,452,363 (GRCm39)	V507I	probably damaging	Het
Zp2	A	T	7: 119,737,328 (GRCm39)	W287R	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
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
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'- GTCCCAAGCATTGCCTAGTAATCACC -3'
(R):5'- CCCCTCCAGCATTCAGTTTAGAAGAAC -3'

Sequencing Primer
(F):5'- CCCTGTTACCCCAAAAGTGG -3'
(R):5'- ACAACTCTCTTTTCTGGTAAGGGTAG -3'

Posted On

2014-05-23