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

101999652-102028461 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 102018539 bp (GRCm38)

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: 110,145,613	V557F	possibly damaging	Het
Abi3	A	T	11: 95,842,025	L41*	probably null	Het
Actn1	C	A	12: 80,174,455		probably null	Het
Adamts15	G	T	9: 30,902,062	R936S	probably benign	Het
Angel2	T	C	1: 190,932,871	S22P	probably benign	Het
Ank2	T	G	3: 126,946,821		probably benign	Het
Astn1	A	G	1: 158,509,993	D423G	probably damaging	Het
Casp9	A	G	4: 141,796,538	D78G	probably damaging	Het
Cbr4	A	G	8: 61,487,853	D2G	probably benign	Het
Ccdc8	T	A	7: 16,996,581	L665H	probably damaging	Het
Cdh23	T	A	10: 60,331,326	N1847I	probably damaging	Het
Cnst	T	C	1: 179,609,875	W335R	probably benign	Het
Ddr2	T	A	1: 170,005,102	I130F	probably benign	Het
Dnah2	C	T	11: 69,500,839	A677T	probably benign	Het
Dzip3	C	A	16: 48,951,842	W488L	probably damaging	Het
Ephb3	T	G	16: 21,222,013	I637S	probably damaging	Het
Etv3	A	G	3: 87,529,364	D142G	probably benign	Het
Fabp5	C	T	3: 10,016,089	T126I	probably benign	Het
Fam13b	A	C	18: 34,494,774	Y125D	probably damaging	Het
Fsip2	C	A	2: 82,992,127	P6068Q	probably damaging	Het
Gm11232	A	G	4: 71,756,668	F199S	possibly damaging	Het
Gm340	G	A	19: 41,583,547	G247D	possibly damaging	Het
Gm5493	A	G	17: 22,748,061	K57E	probably benign	Het
Gm7334	A	G	17: 50,699,237	M184V	probably benign	Het
Gm9894	T	C	13: 67,763,835		noncoding transcript	Het
Gpd2	T	A	2: 57,364,513	N674K	probably benign	Het
H2-M10.6	A	G	17: 36,813,067	Y141C	probably damaging	Het
Heatr5a	C	T	12: 51,884,327	E1796K	probably benign	Het
Hexim2	A	G	11: 103,138,292	T57A	probably benign	Het
Hrg	A	T	16: 22,954,518	N134Y	probably damaging	Het
Hsd17b12	T	C	2: 94,033,977	T262A	probably damaging	Het
Irak3	G	T	10: 120,143,137	P470T	probably damaging	Het
Itgbl1	A	T	14: 123,846,565	D285V	probably damaging	Het
Kcp	A	T	6: 29,502,864	V164E	probably benign	Het
Klhdc7b	T	A	15: 89,388,386	M1157K	probably damaging	Het
Mdc1	G	A	17: 35,848,633	G635D	probably benign	Het
Mdc1	A	G	17: 35,857,572	K1690R	probably benign	Het
Ncor2	G	T	5: 125,020,011	H2285N	probably benign	Het
Neb	T	A	2: 52,257,827	T2727S	probably benign	Het
Nkx6-2	T	C	7: 139,581,567	D234G	possibly damaging	Het
Nlrp9c	T	C	7: 26,384,725	I476M	probably benign	Het
Nrsn1	T	G	13: 25,253,372	Q191P	probably damaging	Het
Olfr116	A	T	17: 37,623,967	S223T	possibly damaging	Het
Olfr390	C	T	11: 73,787,552	L205F	probably benign	Het
Olfr610	T	A	7: 103,506,799	H49L	probably benign	Het
Patl1	T	G	19: 11,937,354	L623R	probably damaging	Het
Pdc	T	C	1: 150,333,366	I200T	probably benign	Het
Pdzk1	A	G	3: 96,868,426	D370G	probably benign	Het
Pglyrp3	A	T	3: 92,031,534	I339F	probably damaging	Het
Plxnb1	T	C	9: 109,116,611	V2070A	probably damaging	Het
Poln	G	A	5: 34,109,431	R461C	probably damaging	Het
Prl2b1	C	A	13: 27,383,508	V218L	probably damaging	Het
Pygl	T	C	12: 70,216,654	D55G	probably damaging	Het
Rif1	C	G	2: 52,095,844	L614V	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
RP24-351P7.8	T	C	7: 11,610,301	F62S	probably damaging	Het
Rsrp1	T	C	4: 134,924,381	F152S	probably damaging	Het
Sim2	T	C	16: 94,097,251	S115P	probably damaging	Het
Slc17a1	T	A	13: 23,875,610	I108K	possibly damaging	Het
Slc30a8	A	G	15: 52,325,658	D223G	probably damaging	Het
Slc39a4	A	T	15: 76,616,142	N69K	probably benign	Het
Slc51a	T	G	16: 32,479,766	T58P	probably damaging	Het
Slc7a14	T	C	3: 31,224,112	H448R	probably benign	Het
Smc3	G	A	19: 53,625,163		probably null	Het
Sox6	A	T	7: 115,486,628	D659E	probably damaging	Het
Stard9	GCCC	GCC	2: 120,693,715		probably null	Het
Tsr1	C	T	11: 74,900,293		probably null	Het
Ttc12	T	C	9: 49,443,122	K565E	probably damaging	Het
Ube4b	A	T	4: 149,368,311	V386E	probably benign	Het
Ush2a	T	A	1: 188,728,096		probably null	Het
Usp5	C	A	6: 124,817,613		probably benign	Het
Vmn1r216	T	C	13: 23,099,935	F263L	probably benign	Het
Vmn2r88	T	A	14: 51,418,149	L606*	probably null	Het
Wee2	T	A	6: 40,449,620		probably null	Het
Zfhx3	T	C	8: 108,792,527	Y94H	probably damaging	Het
Zfp385c	G	A	11: 100,632,768	P120L	probably benign	Het

Other mutations in Mpp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Mpp3	APN	11	102002103	missense	possibly damaging	0.76
IGL01337:Mpp3	APN	11	102000585	missense	probably benign
IGL01393:Mpp3	APN	11	102025478	missense	probably damaging	0.99
IGL01544:Mpp3	APN	11	102018659	missense	possibly damaging	0.91
IGL02152:Mpp3	APN	11	102025390	nonsense	probably null
IGL02441:Mpp3	APN	11	102009675	missense	probably benign	0.00
IGL02656:Mpp3	APN	11	102008601	missense	probably benign
R0013:Mpp3	UTSW	11	102005425	missense	probably benign	0.27
R0117:Mpp3	UTSW	11	102000573	missense	probably damaging	1.00
R0564:Mpp3	UTSW	11	102005347	missense	possibly damaging	0.87
R1372:Mpp3	UTSW	11	102000575	missense	probably damaging	0.96
R1531:Mpp3	UTSW	11	102008649	missense	probably benign
R1639:Mpp3	UTSW	11	102023442	missense	probably damaging	1.00
R1720:Mpp3	UTSW	11	102025756	start codon destroyed	possibly damaging	0.79
R1968:Mpp3	UTSW	11	102018552	intron	probably benign
R2064:Mpp3	UTSW	11	102000690	missense	probably benign	0.01
R2363:Mpp3	UTSW	11	102020486	missense	probably damaging	1.00
R3775:Mpp3	UTSW	11	102023367	nonsense	probably null
R3776:Mpp3	UTSW	11	102023367	nonsense	probably null
R4208:Mpp3	UTSW	11	102000600	missense	probably benign
R4287:Mpp3	UTSW	11	102023463	missense	probably damaging	1.00
R4327:Mpp3	UTSW	11	102023511	intron	probably benign
R4329:Mpp3	UTSW	11	102023511	intron	probably benign
R4367:Mpp3	UTSW	11	102023420	missense	probably benign	0.01
R4856:Mpp3	UTSW	11	102025136	missense	probably benign
R4886:Mpp3	UTSW	11	102025136	missense	probably benign
R4904:Mpp3	UTSW	11	102000587	missense	probably benign	0.01
R4946:Mpp3	UTSW	11	102005022	missense	probably benign	0.01
R5405:Mpp3	UTSW	11	102010221	missense	probably benign
R5935:Mpp3	UTSW	11	102025415	missense	probably damaging	1.00
R6056:Mpp3	UTSW	11	102011689	splice site	probably null
R6151:Mpp3	UTSW	11	102008566	missense	probably benign	0.11
R6677:Mpp3	UTSW	11	102008618	missense	probably benign
R6784:Mpp3	UTSW	11	102002148	critical splice acceptor site	probably null
R6855:Mpp3	UTSW	11	102013325	missense	probably benign	0.09
R7227:Mpp3	UTSW	11	102005078	missense	possibly damaging	0.90
R7635:Mpp3	UTSW	11	102025383	missense	probably damaging	0.97
R7974:Mpp3	UTSW	11	102008354	critical splice donor site	probably null
R8330:Mpp3	UTSW	11	102008627	missense	probably benign	0.20
R8331:Mpp3	UTSW	11	102011715	splice site	probably null
R8993:Mpp3	UTSW	11	102000665	missense	probably benign	0.03
R9154:Mpp3	UTSW	11	102020502	missense
R9593:Mpp3	UTSW	11	102016680	missense	possibly damaging	0.88
R9655:Mpp3	UTSW	11	102008655	missense	probably benign
Z1176:Mpp3	UTSW	11	102008356	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