Mutagenetix > Incidental Mutation

Incidental Mutation 'R6020:Mpp3'

478881

Institutional Source

Beutler Lab

Gene Symbol

Mpp3

Ensembl Gene

ENSMUSG00000052373

Gene Name

membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)

Synonyms

Dlgh3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6020 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101890478-101919287 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 101909365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062801] [ENSMUST00000100400] [ENSMUST00000107167] [ENSMUST00000107168]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000062801

SMART Domains

Protein: ENSMUSP00000055469
Gene: ENSMUSG00000052373

Domain	Start	End	E-Value	Type
L27	10	64	1.5e-8	SMART
L27	68	121	1.18e-15	SMART
PDZ	145	218	1.06e-13	SMART
SH3	229	295	7.7e-9	SMART
GuKc	384	573	1.76e-70	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100400

SMART Domains

Protein: ENSMUSP00000097969
Gene: ENSMUSG00000052373

Domain	Start	End	E-Value	Type
L27	10	64	1.5e-8	SMART
L27	68	121	1.18e-15	SMART
PDZ	145	218	1.06e-13	SMART
SH3	229	295	7.7e-9	SMART
GuKc	384	573	1.76e-70	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000107167
AA Change: I231K

SMART Domains

Protein: ENSMUSP00000102785
Gene: ENSMUSG00000052373
AA Change: I231K

Domain	Start	End	E-Value	Type
L27	10	64	1.5e-8	SMART
L27	68	121	1.18e-15	SMART
PDZ	145	215	5.86e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107168

SMART Domains

Protein: ENSMUSP00000102786
Gene: ENSMUSG00000052373

Domain	Start	End	E-Value	Type
L27	10	64	1.5e-8	SMART
L27	68	121	1.18e-15	SMART
PDZ	145	218	1.06e-13	SMART
SH3	229	295	7.7e-9	SMART
GuKc	384	573	1.76e-70	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147838

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155751

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. This protein contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. Alternatively spliced transcript variants have been identified. One transcript variant is experimentally supported, but it doesn't encode a protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	C	A	11: 110,036,439 (GRCm39)	V557F	possibly damaging	Het
Abi3	A	T	11: 95,732,851 (GRCm39)	L41*	probably null	Het
Actn1	C	A	12: 80,221,229 (GRCm39)		probably null	Het
Adamts15	G	T	9: 30,813,358 (GRCm39)	R936S	probably benign	Het
Angel2	T	C	1: 190,665,068 (GRCm39)	S22P	probably benign	Het
Ank2	T	G	3: 126,740,470 (GRCm39)		probably benign	Het
Astn1	A	G	1: 158,337,563 (GRCm39)	D423G	probably damaging	Het
Casp9	A	G	4: 141,523,849 (GRCm39)	D78G	probably damaging	Het
Cbr4	A	G	8: 61,940,887 (GRCm39)	D2G	probably benign	Het
Ccdc8	T	A	7: 16,730,506 (GRCm39)	L665H	probably damaging	Het
Cdh23	T	A	10: 60,167,105 (GRCm39)	N1847I	probably damaging	Het
Cnst	T	C	1: 179,437,440 (GRCm39)	W335R	probably benign	Het
Ddr2	T	A	1: 169,832,671 (GRCm39)	I130F	probably benign	Het
Dnah2	C	T	11: 69,391,665 (GRCm39)	A677T	probably benign	Het
Dzip3	C	A	16: 48,772,205 (GRCm39)	W488L	probably damaging	Het
Ephb3	T	G	16: 21,040,763 (GRCm39)	I637S	probably damaging	Het
Etv3	A	G	3: 87,436,671 (GRCm39)	D142G	probably benign	Het
Fabp5	C	T	3: 10,081,149 (GRCm39)	T126I	probably benign	Het
Fam13b	A	C	18: 34,627,827 (GRCm39)	Y125D	probably damaging	Het
Fsip2	C	A	2: 82,822,471 (GRCm39)	P6068Q	probably damaging	Het
Gm11232	A	G	4: 71,674,905 (GRCm39)	F199S	possibly damaging	Het
Gm5493	A	G	17: 22,967,034 (GRCm39)	K57E	probably benign	Het
Gm7334	A	G	17: 51,006,265 (GRCm39)	M184V	probably benign	Het
Gm9894	T	C	13: 67,911,954 (GRCm39)		noncoding transcript	Het
Gpd2	T	A	2: 57,254,525 (GRCm39)	N674K	probably benign	Het
H2-M10.6	A	G	17: 37,123,959 (GRCm39)	Y141C	probably damaging	Het
Heatr5a	C	T	12: 51,931,110 (GRCm39)	E1796K	probably benign	Het
Hexim2	A	G	11: 103,029,118 (GRCm39)	T57A	probably benign	Het
Hrg	A	T	16: 22,773,268 (GRCm39)	N134Y	probably damaging	Het
Hsd17b12	T	C	2: 93,864,322 (GRCm39)	T262A	probably damaging	Het
Irak3	G	T	10: 119,979,042 (GRCm39)	P470T	probably damaging	Het
Itgbl1	A	T	14: 124,083,977 (GRCm39)	D285V	probably damaging	Het
Kcp	A	T	6: 29,502,863 (GRCm39)	V164E	probably benign	Het
Klhdc7b	T	A	15: 89,272,589 (GRCm39)	M1157K	probably damaging	Het
Lcor	G	A	19: 41,571,986 (GRCm39)	G247D	possibly damaging	Het
Mdc1	G	A	17: 36,159,525 (GRCm39)	G635D	probably benign	Het
Mdc1	A	G	17: 36,168,464 (GRCm39)	K1690R	probably benign	Het
Ncor2	G	T	5: 125,097,075 (GRCm39)	H2285N	probably benign	Het
Neb	T	A	2: 52,147,839 (GRCm39)	T2727S	probably benign	Het
Nkx6-2	T	C	7: 139,161,483 (GRCm39)	D234G	possibly damaging	Het
Nlrp9c	T	C	7: 26,084,150 (GRCm39)	I476M	probably benign	Het
Nrsn1	T	G	13: 25,437,355 (GRCm39)	Q191P	probably damaging	Het
Or14j10	A	T	17: 37,934,858 (GRCm39)	S223T	possibly damaging	Het
Or1e30	C	T	11: 73,678,378 (GRCm39)	L205F	probably benign	Het
Or51ag1	T	A	7: 103,156,006 (GRCm39)	H49L	probably benign	Het
Patl1	T	G	19: 11,914,718 (GRCm39)	L623R	probably damaging	Het
Pdc	T	C	1: 150,209,117 (GRCm39)	I200T	probably benign	Het
Pdzk1	A	G	3: 96,775,742 (GRCm39)	D370G	probably benign	Het
Pglyrp3	A	T	3: 91,938,841 (GRCm39)	I339F	probably damaging	Het
Plxnb1	T	C	9: 108,945,679 (GRCm39)	V2070A	probably damaging	Het
Poln	G	A	5: 34,266,775 (GRCm39)	R461C	probably damaging	Het
Prl2b1	C	A	13: 27,567,491 (GRCm39)	V218L	probably damaging	Het
Pygl	T	C	12: 70,263,428 (GRCm39)	D55G	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rsrp1	T	C	4: 134,651,692 (GRCm39)	F152S	probably damaging	Het
Sim2	T	C	16: 93,898,110 (GRCm39)	S115P	probably damaging	Het
Slc17a1	T	A	13: 24,059,593 (GRCm39)	I108K	possibly damaging	Het
Slc30a8	A	G	15: 52,189,054 (GRCm39)	D223G	probably damaging	Het
Slc39a4	A	T	15: 76,500,342 (GRCm39)	N69K	probably benign	Het
Slc51a	T	G	16: 32,298,584 (GRCm39)	T58P	probably damaging	Het
Slc7a14	T	C	3: 31,278,261 (GRCm39)	H448R	probably benign	Het
Smc3	G	A	19: 53,613,594 (GRCm39)		probably null	Het
Sox6	A	T	7: 115,085,863 (GRCm39)	D659E	probably damaging	Het
Stard9	GCCC	GCC	2: 120,524,196 (GRCm39)		probably null	Het
Tsr1	C	T	11: 74,791,119 (GRCm39)		probably null	Het
Ttc12	T	C	9: 49,354,422 (GRCm39)	K565E	probably damaging	Het
Ube4b	A	T	4: 149,452,768 (GRCm39)	V386E	probably benign	Het
Ush2a	T	A	1: 188,460,293 (GRCm39)		probably null	Het
Usp5	C	A	6: 124,794,576 (GRCm39)		probably benign	Het
Vmn1r216	T	C	13: 23,284,105 (GRCm39)	F263L	probably benign	Het
Vmn2r88	T	A	14: 51,655,606 (GRCm39)	L606*	probably null	Het
Wee2	T	A	6: 40,426,554 (GRCm39)		probably null	Het
Zfhx3	T	C	8: 109,519,159 (GRCm39)	Y94H	probably damaging	Het
Zfp385c	G	A	11: 100,523,594 (GRCm39)	P120L	probably benign	Het
Zscan4-ps3	T	C	7: 11,344,228 (GRCm39)	F62S	probably damaging	Het

Other mutations in Mpp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Mpp3	APN	11	101,892,929 (GRCm39)	missense	possibly damaging	0.76
IGL01337:Mpp3	APN	11	101,891,411 (GRCm39)	missense	probably benign
IGL01393:Mpp3	APN	11	101,916,304 (GRCm39)	missense	probably damaging	0.99
IGL01544:Mpp3	APN	11	101,909,485 (GRCm39)	missense	possibly damaging	0.91
IGL02152:Mpp3	APN	11	101,916,216 (GRCm39)	nonsense	probably null
IGL02441:Mpp3	APN	11	101,900,501 (GRCm39)	missense	probably benign	0.00
IGL02656:Mpp3	APN	11	101,899,427 (GRCm39)	missense	probably benign
R0013:Mpp3	UTSW	11	101,896,251 (GRCm39)	missense	probably benign	0.27
R0117:Mpp3	UTSW	11	101,891,399 (GRCm39)	missense	probably damaging	1.00
R0564:Mpp3	UTSW	11	101,896,173 (GRCm39)	missense	possibly damaging	0.87
R1372:Mpp3	UTSW	11	101,891,401 (GRCm39)	missense	probably damaging	0.96
R1531:Mpp3	UTSW	11	101,899,475 (GRCm39)	missense	probably benign
R1639:Mpp3	UTSW	11	101,914,268 (GRCm39)	missense	probably damaging	1.00
R1720:Mpp3	UTSW	11	101,916,582 (GRCm39)	start codon destroyed	possibly damaging	0.79
R1968:Mpp3	UTSW	11	101,909,378 (GRCm39)	intron	probably benign
R2064:Mpp3	UTSW	11	101,891,516 (GRCm39)	missense	probably benign	0.01
R2363:Mpp3	UTSW	11	101,911,312 (GRCm39)	missense	probably damaging	1.00
R3775:Mpp3	UTSW	11	101,914,193 (GRCm39)	nonsense	probably null
R3776:Mpp3	UTSW	11	101,914,193 (GRCm39)	nonsense	probably null
R4208:Mpp3	UTSW	11	101,891,426 (GRCm39)	missense	probably benign
R4287:Mpp3	UTSW	11	101,914,289 (GRCm39)	missense	probably damaging	1.00
R4327:Mpp3	UTSW	11	101,914,337 (GRCm39)	intron	probably benign
R4329:Mpp3	UTSW	11	101,914,337 (GRCm39)	intron	probably benign
R4367:Mpp3	UTSW	11	101,914,246 (GRCm39)	missense	probably benign	0.01
R4856:Mpp3	UTSW	11	101,915,962 (GRCm39)	missense	probably benign
R4886:Mpp3	UTSW	11	101,915,962 (GRCm39)	missense	probably benign
R4904:Mpp3	UTSW	11	101,891,413 (GRCm39)	missense	probably benign	0.01
R4946:Mpp3	UTSW	11	101,895,848 (GRCm39)	missense	probably benign	0.01
R5405:Mpp3	UTSW	11	101,901,047 (GRCm39)	missense	probably benign
R5935:Mpp3	UTSW	11	101,916,241 (GRCm39)	missense	probably damaging	1.00
R6056:Mpp3	UTSW	11	101,902,515 (GRCm39)	splice site	probably null
R6151:Mpp3	UTSW	11	101,899,392 (GRCm39)	missense	probably benign	0.11
R6677:Mpp3	UTSW	11	101,899,444 (GRCm39)	missense	probably benign
R6784:Mpp3	UTSW	11	101,892,974 (GRCm39)	critical splice acceptor site	probably null
R6855:Mpp3	UTSW	11	101,904,151 (GRCm39)	missense	probably benign	0.09
R7227:Mpp3	UTSW	11	101,895,904 (GRCm39)	missense	possibly damaging	0.90
R7635:Mpp3	UTSW	11	101,916,209 (GRCm39)	missense	probably damaging	0.97
R7974:Mpp3	UTSW	11	101,899,180 (GRCm39)	critical splice donor site	probably null
R8330:Mpp3	UTSW	11	101,899,453 (GRCm39)	missense	probably benign	0.20
R8331:Mpp3	UTSW	11	101,902,541 (GRCm39)	splice site	probably null
R8993:Mpp3	UTSW	11	101,891,491 (GRCm39)	missense	probably benign	0.03
R9154:Mpp3	UTSW	11	101,911,328 (GRCm39)	missense
R9593:Mpp3	UTSW	11	101,907,506 (GRCm39)	missense	possibly damaging	0.88
R9655:Mpp3	UTSW	11	101,899,481 (GRCm39)	missense	probably benign
Z1176:Mpp3	UTSW	11	101,899,182 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CTGGGCTAGGATAAACCCAAG -3'
(R):5'- AGCTGACCTGCATCTCCATG -3'

Sequencing Primer
(F):5'- GCTAGGATAAACCCAAGGCTTG -3'
(R):5'- ATGTCACCTAGGTCTGGTCCAC -3'

Posted On

2017-06-26