Mutagenetix > Incidental Mutation

Incidental Mutation 'R1531:Mpp3'

166229

Institutional Source

Beutler Lab

Gene Symbol

Mpp3

Ensembl Gene

ENSMUSG00000052373

Gene Name

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

Synonyms

Dlgh3

MMRRC Submission

039570-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1531 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101999652-102028461 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102008649 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 349 (E349K)

Ref Sequence

ENSEMBL: ENSMUSP00000102786 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000062801
AA Change: E349K

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

SMART Domains

Protein: ENSMUSP00000055469
Gene: ENSMUSG00000052373
AA Change: E349K

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
AA Change: E349K

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

SMART Domains

Protein: ENSMUSP00000097969
Gene: ENSMUSG00000052373
AA Change: E349K

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: ENSMUST00000107168
AA Change: E349K

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

SMART Domains

Protein: ENSMUSP00000102786
Gene: ENSMUSG00000052373
AA Change: E349K

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: ENSMUST00000127053

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132094

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.3%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F05Rik	A	G	10: 43,525,320	V211A	probably benign	Het
Agtpbp1	T	A	13: 59,500,634		probably null	Het
Aldh3b2	T	G	19: 3,977,543	F28C	probably damaging	Het
Apaf1	T	C	10: 91,054,521	N540S	probably damaging	Het
Apob	T	C	12: 7,997,880	I953T	possibly damaging	Het
Arhgef1	A	G	7: 24,924,998	T816A	probably damaging	Het
Arid4a	T	A	12: 71,076,005	F1053L	probably benign	Het
Atxn1l	A	C	8: 109,732,059	F524V	probably damaging	Het
Cad	T	A	5: 31,076,219	M1874K	probably benign	Het
Ccdc40	G	A	11: 119,263,189	V1096I	probably benign	Het
Ccdc93	A	G	1: 121,480,822	D358G	probably benign	Het
Cd96	T	C	16: 46,117,806	T99A	probably benign	Het
Cdc42ep3	A	T	17: 79,335,044	M149K	probably benign	Het
Cog4	A	G	8: 110,879,721	E613G	probably benign	Het
Crebbp	A	T	16: 4,084,517	I2286N	probably benign	Het
Csf1	T	C	3: 107,748,338	E459G	possibly damaging	Het
Csrp2	A	T	10: 110,935,205	Y57F	probably benign	Het
Ctdspl	C	T	9: 119,040,582	P244L	probably damaging	Het
Cyp2c29	A	G	19: 39,324,968	R303G	probably damaging	Het
Cyp4a10	C	A	4: 115,518,435	Y38*	probably null	Het
Dmgdh	T	A	13: 93,744,411	I783N	probably damaging	Het
Efcc1	G	A	6: 87,731,166	E92K	probably benign	Het
Eif2ak4	T	A	2: 118,443,210	L872H	probably damaging	Het
Elp2	T	A	18: 24,631,404	S603T	probably benign	Het
Eml2	T	A	7: 19,196,254	L300H	probably damaging	Het
Esp3	A	G	17: 40,635,936	K50R	possibly damaging	Het
Esrp1	A	G	4: 11,379,375	F136L	probably damaging	Het
Exoc1	T	A	5: 76,559,164	D497E	probably damaging	Het
Fat3	A	G	9: 15,997,465	S2414P	probably damaging	Het
Foxj3	C	T	4: 119,620,201	P369S	unknown	Het
Gkn2	G	T	6: 87,375,939		probably null	Het
Gm17333	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	16: 77,852,878		noncoding transcript	Het
Gm21905	A	T	5: 67,946,381		probably benign	Het
Grhl1	T	A	12: 24,582,963		probably null	Het
Grk6	A	G	13: 55,452,154	Y221C	probably damaging	Het
Hcrtr1	T	A	4: 130,130,927	K389*	probably null	Het
Hk1	G	A	10: 62,284,784	R545C	probably damaging	Het
Hsp90b1	A	T	10: 86,696,795	I339N	probably benign	Het
Ikzf3	T	C	11: 98,490,446	R103G	probably damaging	Het
Itgad	A	C	7: 128,178,370	I141L	probably benign	Het
Jmjd6	T	A	11: 116,842,440	Y137F	probably benign	Het
Kcna1	A	G	6: 126,642,067	V430A	probably benign	Het
Kel	A	G	6: 41,688,626	V520A	probably damaging	Het
Klhl41	G	A	2: 69,670,740	V182I	probably benign	Het
Ldhb	C	A	6: 142,501,395	M64I	probably benign	Het
Lrrc23	A	G	6: 124,776,114	S190P	possibly damaging	Het
Mb21d1	A	G	9: 78,442,481	Y200H	probably damaging	Het
Mboat2	T	C	12: 24,959,030	V445A	probably benign	Het
Mlycd	G	A	8: 119,401,519	W188*	probably null	Het
Myh4	A	G	11: 67,250,540	M780V	probably benign	Het
Myh6	G	A	14: 54,956,506	R809C	probably damaging	Het
Mylip	G	A	13: 45,406,570	V161M	possibly damaging	Het
Nrp1	G	A	8: 128,425,969	V220I	probably null	Het
Nup210	A	T	6: 91,034,841	N455K	probably benign	Het
Olfr116	A	T	17: 37,624,352	Y94*	probably null	Het
Olfr583	C	A	7: 103,051,588	Q97K	probably benign	Het
Pbld2	G	T	10: 63,053,953		probably null	Het
Pclo	C	G	5: 14,521,903	P434R	probably damaging	Het
Pdlim3	A	G	8: 45,896,763	K37E	probably damaging	Het
Prkdc	T	A	16: 15,772,106	I2611N	probably benign	Het
Prr12	T	C	7: 45,028,530	D2019G	unknown	Het
Rab27a	A	G	9: 73,095,403	T205A	probably benign	Het
Rcan3	A	G	4: 135,425,284	L42P	probably damaging	Het
Rchy1	T	C	5: 91,955,615		probably null	Het
Sema6a	T	C	18: 47,248,999	H827R	probably damaging	Het
Sertad4	A	G	1: 192,850,950		probably null	Het
Smarcd1	T	A	15: 99,707,383	C282S	probably damaging	Het
Speg	A	G	1: 75,401,222	T769A	possibly damaging	Het
Syne1	T	A	10: 5,347,875	K1141*	probably null	Het
Synpo2	T	C	3: 123,117,666	E110G	probably benign	Het
Tg	T	A	15: 66,850,502	D333E	probably benign	Het
Tmem132c	A	G	5: 127,359,891	Y148C	probably damaging	Het
Tmem215	T	A	4: 40,473,965	V14E	probably damaging	Het
Tmem229b	A	G	12: 78,964,911	L82P	probably damaging	Het
Togaram1	A	G	12: 64,966,265	T97A	probably benign	Het
Trappc9	G	A	15: 72,693,548	R965*	probably null	Het
Trio	T	C	15: 27,832,985	I104V	probably benign	Het
Trp73	A	G	4: 154,063,895	F354S	probably benign	Het
Ttyh2	T	C	11: 114,686,452	L63P	probably damaging	Het
Ulk4	G	C	9: 121,044,775	P1197A	probably damaging	Het
Vmn1r176	T	C	7: 23,835,111	M206V	possibly damaging	Het
Vps8	T	A	16: 21,466,476	Y402*	probably null	Het
Zbtb41	A	G	1: 139,423,193	I15V	probably benign	Het
Zc3hav1	T	C	6: 38,307,235	I982V	possibly damaging	Het
Zmynd19	T	A	2: 24,958,111	N106K	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
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
R6020:Mpp3	UTSW	11	102018539	intron	probably benign
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'- TCAGAACTCCTGAGGAAGCCAGAC -3'
(R):5'- ATCCAGCCTGGAACAATCCACTTG -3'

Sequencing Primer
(F):5'- GACCACCTAGAAACTCAGGATG -3'
(R):5'- gcacacgccaaggaaaac -3'

Posted On

2014-04-13