Mutagenetix > Incidental Mutation

Incidental Mutation 'R2117:Mpp5'

231113

Institutional Source

Beutler Lab

Gene Symbol

Mpp5

Ensembl Gene

ENSMUSG00000021112

Gene Name

membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)

Synonyms

Pals1, 3830420B02Rik

MMRRC Submission

040121-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.545) question?

Stock #

R2117 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78748907-78840714 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78809922 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 180 (F180L)

Ref Sequence

ENSEMBL: ENSMUSP00000151349 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082024] [ENSMUST00000219197] [ENSMUST00000219667]

AlphaFold

Q9JLB2

Predicted Effect

probably benign
Transcript: ENSMUST00000082024
AA Change: F180L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080683
Gene: ENSMUSG00000021112
AA Change: F180L

Domain	Start	End	E-Value	Type
coiled coil region	54	76	N/A	INTRINSIC
L27	123	180	2.04e-10	SMART
L27	186	238	7.39e-8	SMART
PDZ	265	336	5.99e-13	SMART
SH3	348	416	1.2e-10	SMART
low complexity region	439	454	N/A	INTRINSIC
GuKc	478	663	1.72e-64	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219197
AA Change: F180L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000219667

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.0%

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 p55-like subfamily of the membrane-associated guanylate kinase (MAGUK) gene superfamily. The encoded protein participates in the polarization of differentiating cells, has been shown to regulate myelinating Schwann cells (PMID: 20237282), and is one of the components of the Crumbs complex in the retina. Mice which express lower levels of the orthologous protein have retinal degeneration and impaired vision (PMID: 22114289). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a floxed allele activated in cortical neuron exhibit loss of cortex neurons due to premature differentiation and increased apoptosis. These mice also exhibit behavioral defects but are otherwise viable and fertile. Heterozygous mice exhibit an intermediate phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,492,537 (GRCm38)	C3357S	probably benign	Het
Ago1	T	A	4: 126,463,857 (GRCm38)		probably null	Het
Akap10	A	T	11: 61,890,303 (GRCm38)	D562E	possibly damaging	Het
Akr1b7	G	A	6: 34,418,994 (GRCm38)	A144T	possibly damaging	Het
Ankle1	A	G	8: 71,407,918 (GRCm38)	T340A	probably benign	Het
Arf5	C	T	6: 28,424,784 (GRCm38)	Q71*	probably null	Het
Arl15	C	T	13: 113,967,660 (GRCm38)	S111F	probably damaging	Het
Asph	G	A	4: 9,517,671 (GRCm38)	Q468*	probably null	Het
Bcam	G	T	7: 19,758,427 (GRCm38)	A581E	possibly damaging	Het
Blvra	G	T	2: 127,086,069 (GRCm38)	E80*	probably null	Het
Casc1	C	T	6: 145,205,241 (GRCm38)		probably null	Het
Ccr6	T	C	17: 8,256,082 (GRCm38)	F40L	possibly damaging	Het
Cfap161	A	T	7: 83,775,976 (GRCm38)	N302K	possibly damaging	Het
Ckmt2	T	A	13: 91,855,845 (GRCm38)	I345F	probably benign	Het
Cpsf6	A	G	10: 117,366,120 (GRCm38)		probably benign	Het
Ctnna1	A	G	18: 35,152,625 (GRCm38)	N8S	possibly damaging	Het
Cyp2d11	A	G	15: 82,391,753 (GRCm38)	L209P	probably damaging	Het
Dab2	T	C	15: 6,435,615 (GRCm38)	V628A	probably damaging	Het
Dcstamp	C	T	15: 39,755,175 (GRCm38)	Q327*	probably null	Het
Defb38	A	T	8: 19,023,467 (GRCm38)	Y63*	probably null	Het
Dlg5	A	T	14: 24,177,758 (GRCm38)	L365*	probably null	Het
Dnmt3l	C	A	10: 78,063,296 (GRCm38)	L110I	probably damaging	Het
Exoc3l2	G	T	7: 19,494,982 (GRCm38)	L108F	possibly damaging	Het
Exoc4	T	A	6: 33,347,825 (GRCm38)	N351K	possibly damaging	Het
Fam83h	C	A	15: 76,004,733 (GRCm38)	E252*	probably null	Het
Fancm	A	G	12: 65,077,174 (GRCm38)	D202G	probably damaging	Het
Fat1	T	A	8: 45,037,463 (GRCm38)	V3804E	probably benign	Het
Fbxw28	T	C	9: 109,330,917 (GRCm38)	T190A	probably benign	Het
Fer1l4	T	C	2: 156,039,118 (GRCm38)	T843A	probably benign	Het
Fnip1	A	T	11: 54,500,624 (GRCm38)	H461L	probably damaging	Het
Gcn1l1	A	T	5: 115,598,825 (GRCm38)	M1276L	probably benign	Het
Gemin4	A	G	11: 76,211,001 (GRCm38)	V978A	possibly damaging	Het
Gm7247	A	T	14: 51,365,335 (GRCm38)	I43F	probably damaging	Het
Gm853	C	A	4: 130,215,363 (GRCm38)	V295L	possibly damaging	Het
Gm9978	C	T	10: 78,486,897 (GRCm38)		noncoding transcript	Het
Gpr4	T	C	7: 19,223,145 (GRCm38)	S331P	probably damaging	Het
Hspa1a	T	A	17: 34,970,479 (GRCm38)	N483Y	probably damaging	Het
Ift74	A	G	4: 94,627,259 (GRCm38)	T138A	probably benign	Het
Ints14	T	G	9: 64,979,795 (GRCm38)	L336R	probably damaging	Het
Irak1	G	T	X: 74,022,612 (GRCm38)	P197Q	possibly damaging	Het
Kif4	A	G	X: 100,665,717 (GRCm38)	S315G	probably benign	Het
L3mbtl1	T	A	2: 162,960,070 (GRCm38)		probably null	Het
Lamb3	A	G	1: 193,334,181 (GRCm38)	R657G	probably benign	Het
Lrp2	A	C	2: 69,483,385 (GRCm38)	V2334G	probably benign	Het
Lrwd1	T	A	5: 136,130,478 (GRCm38)	Y431F	probably damaging	Het
Map3k21	A	T	8: 125,924,042 (GRCm38)	H261L	probably benign	Het
Meis1	G	T	11: 18,881,679 (GRCm38)	P453Q	probably damaging	Het
Mettl16	G	T	11: 74,802,929 (GRCm38)	M255I	probably benign	Het
Mllt10	A	G	2: 18,162,569 (GRCm38)	N435S	probably benign	Het
Mta2	T	C	19: 8,943,516 (GRCm38)	I27T	probably damaging	Het
Nav2	A	G	7: 49,464,580 (GRCm38)	I771V	probably benign	Het
Nisch	A	T	14: 31,177,285 (GRCm38)		probably benign	Het
Npc1	G	A	18: 12,196,556 (GRCm38)	P990L	probably damaging	Het
Nrxn1	A	T	17: 90,704,277 (GRCm38)	I308K	probably damaging	Het
Olfr1378	A	T	11: 50,969,320 (GRCm38)	I101F	probably damaging	Het
Olfr1402	C	A	3: 97,410,449 (GRCm38)	C244F	probably damaging	Het
Olfr183	T	C	16: 59,000,420 (GRCm38)	L245P	possibly damaging	Het
Otogl	T	C	10: 107,858,918 (GRCm38)	D823G	probably benign	Het
P2rx7	A	G	5: 122,681,266 (GRCm38)	T584A	probably benign	Het
Pank1	T	A	19: 34,841,086 (GRCm38)	I18F	probably damaging	Het
Pgap3	A	G	11: 98,391,107 (GRCm38)	L126P	probably damaging	Het
Phka1	C	T	X: 102,610,201 (GRCm38)	R290H	probably damaging	Het
Pkd2	G	A	5: 104,483,176 (GRCm38)	E489K	probably damaging	Het
Prdm16	T	A	4: 154,347,925 (GRCm38)	S296C	probably null	Het
Prex2	T	A	1: 11,186,713 (GRCm38)	N1216K	probably damaging	Het
Prmt7	A	G	8: 106,227,298 (GRCm38)	T124A	probably damaging	Het
Ptpra	G	T	2: 130,539,735 (GRCm38)	R372L	probably damaging	Het
Ptpro	T	A	6: 137,443,594 (GRCm38)	V1007D	probably damaging	Het
Rap2b	G	T	3: 61,365,091 (GRCm38)	G12V	probably damaging	Het
Rapgef5	T	A	12: 117,714,064 (GRCm38)		probably null	Het
Rassf4	A	G	6: 116,645,127 (GRCm38)	F168S	possibly damaging	Het
Rtf1	T	A	2: 119,705,518 (GRCm38)	H184Q	probably benign	Het
Sacs	A	G	14: 61,213,771 (GRCm38)	K4422R	probably benign	Het
Sec11c	A	T	18: 65,800,649 (GRCm38)	T9S	probably benign	Het
Sema3d	C	T	5: 12,563,273 (GRCm38)	T439I	probably benign	Het
Sephs1	A	G	2: 4,899,540 (GRCm38)	N243S	probably benign	Het
Setd2	TTGGGA	T	9: 110,604,144 (GRCm38)		probably null	Het
Setx	A	G	2: 29,130,301 (GRCm38)	D100G	probably benign	Het
Slc22a7	C	A	17: 46,433,972 (GRCm38)	V383L	possibly damaging	Het
Slc25a40	T	C	5: 8,430,417 (GRCm38)	C56R	probably damaging	Het
Stk38l	T	A	6: 146,768,846 (GRCm38)	L229I	probably damaging	Het
Sult2a5	T	C	7: 13,625,434 (GRCm38)	S112P	probably damaging	Het
Syt4	A	G	18: 31,440,467 (GRCm38)	Y332H	probably damaging	Het
Tcof1	T	C	18: 60,832,785 (GRCm38)	E415G	possibly damaging	Het
Tenm2	A	G	11: 36,024,854 (GRCm38)	L1951P	probably damaging	Het
Tlr9	A	G	9: 106,225,337 (GRCm38)	N609S	probably damaging	Het
Tmem120a	A	T	5: 135,736,123 (GRCm38)	S266T	possibly damaging	Het
Tmem132b	A	G	5: 125,622,551 (GRCm38)	E92G	probably damaging	Het
Tmem8	C	T	17: 26,117,884 (GRCm38)	L259F	possibly damaging	Het
Tnfrsf18	T	A	4: 156,028,516 (GRCm38)	V196E	probably damaging	Het
Trpc1	A	T	9: 95,717,584 (GRCm38)	L474H	probably damaging	Het
Trpm6	T	C	19: 18,829,952 (GRCm38)	V1020A	probably damaging	Het
Usp20	T	A	2: 31,016,305 (GRCm38)	C562S	probably damaging	Het
Usp47	T	A	7: 112,067,236 (GRCm38)		probably null	Het
Vgll1	A	C	X: 57,092,430 (GRCm38)	K53T	probably damaging	Het
Vmn1r26	T	C	6: 58,008,350 (GRCm38)	N285D	possibly damaging	Het
Zfp445	T	A	9: 122,853,437 (GRCm38)	K480*	probably null	Het
Zfp786	A	G	6: 47,826,997 (GRCm38)	V37A	probably damaging	Het
Zfp821	A	G	8: 109,721,219 (GRCm38)	E64G	probably damaging	Het
Zfp994	T	A	17: 22,200,981 (GRCm38)	D329V	probably damaging	Het
Zkscan8	T	C	13: 21,520,318 (GRCm38)	S484G	probably damaging	Het

Other mutations in Mpp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Mpp5	APN	12	78,829,799 (GRCm38)	missense	possibly damaging	0.89
IGL00863:Mpp5	APN	12	78,809,821 (GRCm38)	missense	probably damaging	1.00
IGL01860:Mpp5	APN	12	78,830,907 (GRCm38)	missense	possibly damaging	0.79
R1584:Mpp5	UTSW	12	78,829,727 (GRCm38)	missense	probably benign	0.34
R1632:Mpp5	UTSW	12	78,797,038 (GRCm38)	nonsense	probably null
R2186:Mpp5	UTSW	12	78,819,371 (GRCm38)	splice site	probably benign
R2211:Mpp5	UTSW	12	78,797,248 (GRCm38)	missense	possibly damaging	0.78
R4044:Mpp5	UTSW	12	78,824,839 (GRCm38)	missense	probably benign	0.06
R4224:Mpp5	UTSW	12	78,829,718 (GRCm38)	missense	probably damaging	1.00
R4535:Mpp5	UTSW	12	78,824,837 (GRCm38)	missense	possibly damaging	0.90
R5157:Mpp5	UTSW	12	78,820,815 (GRCm38)	missense	possibly damaging	0.95
R6144:Mpp5	UTSW	12	78,824,789 (GRCm38)	missense	possibly damaging	0.75
R6180:Mpp5	UTSW	12	78,817,310 (GRCm38)	missense	probably benign	0.11
R7037:Mpp5	UTSW	12	78,797,199 (GRCm38)	missense	probably damaging	1.00
R7216:Mpp5	UTSW	12	78,797,232 (GRCm38)	missense	probably damaging	0.99
R8084:Mpp5	UTSW	12	78,820,851 (GRCm38)	missense	probably benign	0.18
R8937:Mpp5	UTSW	12	78,819,341 (GRCm38)	missense	probably benign	0.07
R8983:Mpp5	UTSW	12	78,837,524 (GRCm38)	missense	probably damaging	1.00
R9128:Mpp5	UTSW	12	78,797,058 (GRCm38)	missense	probably benign
R9396:Mpp5	UTSW	12	78,824,747 (GRCm38)	missense	possibly damaging	0.49
R9690:Mpp5	UTSW	12	78,819,343 (GRCm38)	missense	probably damaging	1.00
R9703:Mpp5	UTSW	12	78,797,076 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GACGTTGAAGACTTGTTCTCTTC -3'
(R):5'- TCATAATCAGTGCTCTAGCTAGATC -3'

Sequencing Primer
(F):5'- AGACTTGTTCTCTTCACTTAAACAC -3'
(R):5'- CATCAGTCTCTGCAACAG -3'

Posted On

2014-09-18