Mutagenetix > Incidental Mutation

Incidental Mutation 'R0013:Mpp3'

32660

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

038308-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0013 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101890478-101919287 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 101896251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 424 (R424L)

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: R424L

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000055469
Gene: ENSMUSG00000052373
AA Change: R424L

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: R424L

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097969
Gene: ENSMUSG00000052373
AA Change: R424L

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: R424L

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102786
Gene: ENSMUSG00000052373
AA Change: R424L

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

Meta Mutation Damage Score

0.2190

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.8%

Validation Efficiency

94% (79/84)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	G	10: 76,293,346 (GRCm39)	M156V	probably benign	Het
Adnp2	A	T	18: 80,172,960 (GRCm39)	V483D	probably damaging	Het
Aff1	G	T	5: 103,976,350 (GRCm39)	E491*	probably null	Het
Agl	A	T	3: 116,570,257 (GRCm39)	C911*	probably null	Het
Akt2	A	G	7: 27,335,483 (GRCm39)	D284G	probably damaging	Het
Alox15	A	G	11: 70,240,461 (GRCm39)	M240T	possibly damaging	Het
Antxr2	A	G	5: 98,127,844 (GRCm39)	V229A	probably damaging	Het
Arap2	G	A	5: 62,840,827 (GRCm39)	L680F	probably damaging	Het
Btaf1	A	G	19: 36,935,773 (GRCm39)	T188A	probably benign	Het
Btnl6	G	A	17: 34,734,505 (GRCm39)	Q86*	probably null	Het
C2cd3	T	A	7: 100,065,269 (GRCm39)	L685H	probably damaging	Het
Cdh23	T	C	10: 60,248,952 (GRCm39)	T878A	possibly damaging	Het
Clec4b2	T	C	6: 123,179,108 (GRCm39)	Y137H	probably damaging	Het
Dchs1	T	A	7: 105,405,043 (GRCm39)	T2500S	possibly damaging	Het
Def6	A	G	17: 28,436,066 (GRCm39)	Y75C	probably damaging	Het
Dhx33	A	T	11: 70,884,461 (GRCm39)	F448L	probably damaging	Het
Dner	C	T	1: 84,472,614 (GRCm39)		probably benign	Het
Dnmbp	G	A	19: 43,890,670 (GRCm39)	P366S	probably benign	Het
Eif4g3	T	C	4: 137,903,159 (GRCm39)	C1160R	possibly damaging	Het
Elmod1	G	A	9: 53,820,185 (GRCm39)		probably benign	Het
Faah	C	A	4: 115,861,588 (GRCm39)	L305F	probably damaging	Het
Flt1	A	G	5: 147,507,824 (GRCm39)		probably benign	Het
Fyco1	A	T	9: 123,651,471 (GRCm39)	N1196K	probably benign	Het
Galnt18	T	C	7: 111,153,664 (GRCm39)	N320S	probably damaging	Het
Garin3	A	G	11: 46,297,631 (GRCm39)	T312A	unknown	Het
Glp2r	C	A	11: 67,600,538 (GRCm39)	G437V	possibly damaging	Het
Gm4884	T	C	7: 40,693,716 (GRCm39)	S562P	probably damaging	Het
Gm9936	A	G	5: 114,995,408 (GRCm39)		probably benign	Het
Gpn2	C	A	4: 133,312,103 (GRCm39)	P112T	probably damaging	Het
Grm4	A	G	17: 27,650,549 (GRCm39)	Y816H	probably benign	Het
Helz2	A	T	2: 180,882,752 (GRCm39)	S14T	probably benign	Het
Htt	T	C	5: 34,977,448 (GRCm39)	L778P	probably benign	Het
Il11ra1	T	C	4: 41,765,060 (GRCm39)	S129P	probably damaging	Het
Ints11	T	C	4: 155,971,625 (GRCm39)	F315S	probably damaging	Het
Itga11	A	T	9: 62,683,895 (GRCm39)	N1059Y	possibly damaging	Het
Jak3	A	G	8: 72,136,971 (GRCm39)	S716G	probably damaging	Het
Kcns1	G	T	2: 164,010,563 (GRCm39)	D65E	probably benign	Het
Kdm5d	A	T	Y: 941,715 (GRCm39)	K1305N	probably benign	Het
Kif26a	G	T	12: 112,144,314 (GRCm39)	V1523L	probably benign	Het
Mboat7	A	G	7: 3,686,821 (GRCm39)	S340P	probably damaging	Het
Mctp2	T	C	7: 71,879,156 (GRCm39)	I234V	probably benign	Het
Mex3c	G	A	18: 73,723,622 (GRCm39)	A572T	probably benign	Het
Mroh4	T	A	15: 74,480,086 (GRCm39)		probably benign	Het
Myo9a	A	T	9: 59,767,489 (GRCm39)		probably benign	Het
Myog	T	A	1: 134,217,973 (GRCm39)	H60Q	probably damaging	Het
Nlrp9a	T	A	7: 26,270,650 (GRCm39)		probably null	Het
Notch1	A	G	2: 26,363,830 (GRCm39)	V868A	possibly damaging	Het
Or10g9b	A	T	9: 39,917,651 (GRCm39)	I198N	probably damaging	Het
Or1j20	A	G	2: 36,760,172 (GRCm39)	N198S	probably damaging	Het
Or1p1	T	A	11: 74,179,877 (GRCm39)	I135N	possibly damaging	Het
Or5d18	T	C	2: 87,864,610 (GRCm39)	Y291C	possibly damaging	Het
Pink1	T	C	4: 138,044,712 (GRCm39)	T342A	probably benign	Het
Plb1	T	A	5: 32,506,959 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,062,446 (GRCm39)	D2524G	probably damaging	Het
Plekhg4	G	T	8: 106,102,028 (GRCm39)	E6*	probably null	Het
Polq	T	C	16: 36,882,201 (GRCm39)	F1455S	possibly damaging	Het
Ppm1e	A	G	11: 87,139,884 (GRCm39)		probably benign	Het
Prkaca	G	A	8: 84,714,932 (GRCm39)	M119I	possibly damaging	Het
Prss46	G	T	9: 110,679,123 (GRCm39)	S108I	probably damaging	Het
Ptma	C	T	1: 86,457,498 (GRCm39)		probably benign	Het
Rab11fip4	C	T	11: 79,580,479 (GRCm39)	T437M	probably benign	Het
Rngtt	T	A	4: 33,379,409 (GRCm39)	M437K	probably benign	Het
Rrn3	T	A	16: 13,630,977 (GRCm39)	D604E	possibly damaging	Het
Scn4a	A	G	11: 106,239,231 (GRCm39)		probably benign	Het
Sis	A	G	3: 72,817,809 (GRCm39)	L1468P	possibly damaging	Het
Slit3	A	G	11: 35,598,745 (GRCm39)	M1450V	probably benign	Het
Smg5	T	C	3: 88,256,540 (GRCm39)	S269P	probably benign	Het
Sntg1	T	C	1: 8,533,686 (GRCm39)	T323A	probably damaging	Het
Son	C	T	16: 91,448,550 (GRCm39)	T37I	probably damaging	Het
Stk17b	T	C	1: 53,803,291 (GRCm39)	I41M	probably benign	Het
Tgm5	T	A	2: 120,907,363 (GRCm39)	Y120F	probably damaging	Het
Tppp	A	G	13: 74,169,479 (GRCm39)	K73R	possibly damaging	Het
Ttn	C	A	2: 76,569,502 (GRCm39)	K27130N	probably damaging	Het
Ttn	C	T	2: 76,738,096 (GRCm39)	V4148I	probably benign	Het
Tut4	T	A	4: 108,388,152 (GRCm39)		probably benign	Het
Uba7	A	T	9: 107,855,448 (GRCm39)	Y375F	probably damaging	Het
Ugcg	T	C	4: 59,213,931 (GRCm39)	L171P	possibly damaging	Het
Vsig2	T	C	9: 37,453,872 (GRCm39)		probably benign	Het
Zfp839	T	A	12: 110,834,820 (GRCm39)	S692T	possibly 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
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
R6020:Mpp3	UTSW	11	101,909,365 (GRCm39)	intron	probably benign
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'- TGGGAAGCCCCAACTTCACAAAGG -3'
(R):5'- AAGACACCCGTGCTTGACACAGAG -3'

Sequencing Primer
(F):5'- GGGGACATCCCAATATGACC -3'
(R):5'- ttgggaggtagaggcagg -3'

Posted On

2013-05-09