Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0391 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59160094-59202548 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 59182988 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

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: ENSMUST00000189743

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189884

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: 122,594,970 (GRCm39)		probably benign	Het
Abcc2	G	A	19: 43,810,044 (GRCm39)		probably benign	Het
Abcc8	C	G	7: 45,771,597 (GRCm39)	G838A	probably damaging	Het
Akr1c21	G	A	13: 4,631,199 (GRCm39)	A245T	probably damaging	Het
Anapc15-ps	T	C	10: 95,509,139 (GRCm39)	E47G	probably damaging	Het
Apoa1	A	G	9: 46,141,140 (GRCm39)	T79A	probably benign	Het
Atp6v1b1	A	G	6: 83,733,903 (GRCm39)	H378R	possibly damaging	Het
C4b	A	G	17: 34,954,588 (GRCm39)		probably benign	Het
Catsperd	A	T	17: 56,969,821 (GRCm39)	E638D	probably benign	Het
Cckar	C	T	5: 53,863,595 (GRCm39)		probably null	Het
Cfap100	C	T	6: 90,382,321 (GRCm39)		probably benign	Het
Chd1	G	T	17: 15,970,156 (GRCm39)	G970C	probably damaging	Het
Col14a1	A	G	15: 55,309,655 (GRCm39)		probably benign	Het
Col17a1	C	T	19: 47,652,263 (GRCm39)	V698M	probably damaging	Het
Cpeb1	T	C	7: 81,011,473 (GRCm39)	D156G	possibly damaging	Het
Cryl1	A	G	14: 57,541,232 (GRCm39)	Y151H	possibly damaging	Het
Csmd3	C	A	15: 47,520,969 (GRCm39)	V1881L	probably damaging	Het
Ctnnal1	C	T	4: 56,847,921 (GRCm39)	A73T	probably damaging	Het
Cyp2c37	T	C	19: 39,982,950 (GRCm39)	S180P	probably damaging	Het
Cyp2c54	T	C	19: 40,060,613 (GRCm39)	T123A	possibly damaging	Het
Dennd6b	T	C	15: 89,071,417 (GRCm39)	D304G	probably damaging	Het
Dnmt3l	T	C	10: 77,887,750 (GRCm39)		probably benign	Het
Eci1	G	A	17: 24,652,234 (GRCm39)		probably null	Het
Efhc1	A	G	1: 21,030,412 (GRCm39)	Y115C	probably damaging	Het
Ern1	T	A	11: 106,298,004 (GRCm39)	K706*	probably null	Het
Ghrl	T	C	6: 113,696,299 (GRCm39)	E31G	probably damaging	Het
Gpr108	A	C	17: 57,550,101 (GRCm39)	V179G	probably benign	Het
Henmt1	A	G	3: 108,865,851 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,444,011 (GRCm39)	V69A	probably damaging	Het
Il17ra	T	C	6: 120,453,940 (GRCm39)		probably benign	Het
Il17rb	T	C	14: 29,726,304 (GRCm39)	N95D	probably benign	Het
Il17rb	G	T	14: 29,728,112 (GRCm39)		probably null	Het
Iqub	G	A	6: 24,446,154 (GRCm39)	L757F	probably benign	Het
Itpr1	T	C	6: 108,355,128 (GRCm39)	V473A	probably benign	Het
Itpr2	T	G	6: 146,131,271 (GRCm39)	N1978H	probably damaging	Het
Klk1b26	T	A	7: 43,662,151 (GRCm39)	F3Y	probably damaging	Het
Lars1	A	G	18: 42,384,428 (GRCm39)	V50A	probably benign	Het
Lax1	G	T	1: 133,607,804 (GRCm39)	H312Q	probably benign	Het
Lctl	T	C	9: 64,029,596 (GRCm39)		probably benign	Het
Lrp2	T	A	2: 69,287,202 (GRCm39)	D3745V	probably damaging	Het
Lrp2	G	A	2: 69,290,681 (GRCm39)		probably benign	Het
Lvrn	A	T	18: 46,983,533 (GRCm39)	H92L	probably benign	Het
Marchf1	A	G	8: 66,871,625 (GRCm39)	T385A	probably damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mbd5	T	C	2: 49,162,428 (GRCm39)	V970A	possibly damaging	Het
Mccc1	A	G	3: 36,017,719 (GRCm39)		probably benign	Het
Mrnip	G	A	11: 50,090,747 (GRCm39)	A304T	probably damaging	Het
Muc5b	T	C	7: 141,418,819 (GRCm39)	S3922P	possibly damaging	Het
Myh3	T	A	11: 66,987,333 (GRCm39)		probably benign	Het
Nbea	A	T	3: 55,944,698 (GRCm39)	H555Q	probably damaging	Het
Niban3	T	A	8: 72,055,143 (GRCm39)		probably benign	Het
Nlrp9c	A	T	7: 26,070,901 (GRCm39)		probably benign	Het
Nmur1	A	T	1: 86,315,400 (GRCm39)	V178E	probably damaging	Het
Nod2	T	G	8: 89,390,406 (GRCm39)	S238A	probably benign	Het
Ogfod1	A	T	8: 94,789,651 (GRCm39)	T451S	probably damaging	Het
Or1e17	T	C	11: 73,831,935 (GRCm39)	F288L	probably damaging	Het
Or2d36	T	A	7: 106,747,394 (GRCm39)	Y290*	probably null	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or8b8	G	A	9: 37,809,138 (GRCm39)	G146D	probably benign	Het
Pcdh20	T	C	14: 88,706,104 (GRCm39)	I399V	probably benign	Het
Pdlim1	G	T	19: 40,232,017 (GRCm39)	H120Q	probably damaging	Het
Plg	T	C	17: 12,637,968 (GRCm39)	V798A	probably damaging	Het
Polr2c	A	G	8: 95,584,403 (GRCm39)	I39V	possibly damaging	Het
Ppfia2	C	A	10: 106,666,575 (GRCm39)		probably benign	Het
Ppp1r3a	A	T	6: 14,719,696 (GRCm39)	I406N	probably benign	Het
Psg28	A	T	7: 18,160,098 (GRCm39)	M366K	probably benign	Het
Rad54b	T	C	4: 11,601,702 (GRCm39)	I419T	probably damaging	Het
Rnf43	A	G	11: 87,622,108 (GRCm39)	Q403R	possibly damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Slc28a3	A	G	13: 58,717,229 (GRCm39)		probably benign	Het
Smad2	A	T	18: 76,422,108 (GRCm39)		probably null	Het
Smad4	G	A	18: 73,791,720 (GRCm39)	P274S	probably benign	Het
Smchd1	A	T	17: 71,710,149 (GRCm39)	V906D	probably damaging	Het
Soat2	C	A	15: 102,067,188 (GRCm39)	R320S	possibly damaging	Het
Spata33	C	T	8: 123,948,626 (GRCm39)	A57V	probably damaging	Het
Stab1	A	G	14: 30,865,375 (GRCm39)	L1814P	probably benign	Het
Stab2	T	C	10: 86,783,008 (GRCm39)	K680R	probably benign	Het
Stil	A	G	4: 114,898,369 (GRCm39)		probably null	Het
Sympk	T	A	7: 18,780,774 (GRCm39)	L759H	probably benign	Het
Tet1	A	T	10: 62,650,325 (GRCm39)		probably null	Het
Tfpi2	A	T	6: 3,965,460 (GRCm39)	N117K	probably benign	Het
Tle3	A	G	9: 61,323,943 (GRCm39)	Y766C	probably damaging	Het
Trpt1	C	A	19: 6,975,298 (GRCm39)		probably null	Het
Tshz1	A	G	18: 84,034,174 (GRCm39)	F78S	possibly damaging	Het
Ttc1	T	C	11: 43,629,635 (GRCm39)	D177G	probably damaging	Het
Ttc13	T	A	8: 125,401,140 (GRCm39)	Y741F	probably damaging	Het
Ulk3	C	T	9: 57,502,115 (GRCm39)	S462L	probably benign	Het
Utrn	C	T	10: 12,401,077 (GRCm39)		probably benign	Het
V1rd19	A	C	7: 23,703,010 (GRCm39)	T159P	probably damaging	Het
Vars1	T	C	17: 35,230,462 (GRCm39)	V515A	possibly damaging	Het
Vmn1r85	A	G	7: 12,818,515 (GRCm39)	Y210H	probably benign	Het
Vmn2r89	A	G	14: 51,693,435 (GRCm39)	T262A	probably damaging	Het
Vps53	G	A	11: 76,012,405 (GRCm39)	T209I	probably benign	Het
Wdfy2	T	C	14: 63,162,582 (GRCm39)	F95L	possibly damaging	Het
Wwp1	G	T	4: 19,627,911 (GRCm39)	S694Y	probably damaging	Het
Zbtb8b	T	A	4: 129,326,463 (GRCm39)	D201V	probably damaging	Het
Zmym5	A	C	14: 57,041,908 (GRCm39)	N123K	possibly 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
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
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'- GCCTGAGAGATGGAAGCACCATTC -3'
(R):5'- CAGCATCAGCAGCTTATTGGTATTGTG -3'

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

Posted On

2013-04-24