Mutagenetix > Incidental Mutation

Incidental Mutation 'R9154:Mpp3'

695264

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9154 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101890478-101919287 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101911328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 165 (I165V)

Ref Sequence

ENSEMBL: ENSMUSP00000055469 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000055469
Gene: ENSMUSG00000052373
AA Change: I165V

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

possibly damaging
Transcript: ENSMUST00000100400
AA Change: I165V

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097969
Gene: ENSMUSG00000052373
AA Change: I165V

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 damaging
Transcript: ENSMUST00000107167
AA Change: I165V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102785
Gene: ENSMUSG00000052373
AA Change: I165V

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

possibly damaging
Transcript: ENSMUST00000107168
AA Change: I165V

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102786
Gene: ENSMUSG00000052373
AA Change: I165V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,926,926 (GRCm39)	V862A	probably benign	Het
A2m	A	T	6: 121,645,512 (GRCm39)	K1019M	probably damaging	Het
Acot6	G	T	12: 84,147,789 (GRCm39)	W15L	possibly damaging	Het
Adam32	CCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAG	8: 25,438,769 (GRCm39)		probably benign	Het
Adnp	C	A	2: 168,026,580 (GRCm39)	Q238H	possibly damaging	Het
Akap7	T	C	10: 25,047,053 (GRCm39)	Y281C	probably damaging	Het
Ank1	A	G	8: 23,605,387 (GRCm39)	E1085G	probably damaging	Het
Arhgef38	A	T	3: 132,837,924 (GRCm39)	S669T	unknown	Het
Atp8b2	A	T	3: 89,865,927 (GRCm39)	S50R	possibly damaging	Het
Atp8b5	T	C	4: 43,372,630 (GRCm39)	I1090T	probably benign	Het
Ccdc198	A	T	14: 49,473,367 (GRCm39)	H129Q	probably benign	Het
Chrna4	G	A	2: 180,670,602 (GRCm39)	R385C	probably damaging	Het
Col4a1	T	A	8: 11,267,446 (GRCm39)	I1105F	probably damaging	Het
Crybg2	G	A	4: 133,792,620 (GRCm39)	R85Q	probably benign	Het
Cspg4	T	A	9: 56,798,287 (GRCm39)	L1434Q		Het
Cyp3a13	T	C	5: 137,919,758 (GRCm39)	N6S	probably benign	Het
Dnase2b	A	T	3: 146,299,326 (GRCm39)	Y42*	probably null	Het
F11r	A	G	1: 171,289,376 (GRCm39)	E233G	probably damaging	Het
Fip1l1	T	C	5: 74,747,703 (GRCm39)	I390T	possibly damaging	Het
Fiz1	G	A	7: 5,011,280 (GRCm39)	R413C	probably damaging	Het
Fus	G	A	7: 127,580,440 (GRCm39)	G450E	unknown	Het
Gm11569	C	A	11: 99,689,267 (GRCm39)	C144F	unknown	Het
Gm7298	A	T	6: 121,756,436 (GRCm39)	Y1027F	probably damaging	Het
Grik5	C	A	7: 24,758,403 (GRCm39)	W340L	probably damaging	Het
H1f2	A	G	13: 23,923,373 (GRCm39)	K181R	unknown	Het
Hectd4	G	A	5: 121,391,967 (GRCm39)	R77H		Het
Ift81	C	A	5: 122,689,122 (GRCm39)	V665L	probably benign	Het
Ints2	A	G	11: 86,125,524 (GRCm39)	F559L	probably damaging	Het
Kdm8	G	A	7: 125,054,296 (GRCm39)	V176I	probably benign	Het
Keap1	A	T	9: 21,142,121 (GRCm39)	Y584*	probably null	Het
Klra1	T	C	6: 130,357,607 (GRCm39)	T7A		Het
Lmo7	T	A	14: 102,122,743 (GRCm39)	W311R	probably damaging	Het
Lrp6	A	G	6: 134,518,855 (GRCm39)	V70A	probably damaging	Het
Luc7l3	A	T	11: 94,190,793 (GRCm39)	S174T	unknown	Het
Madd	T	C	2: 90,998,162 (GRCm39)	T653A	probably damaging	Het
Mlph	G	T	1: 90,855,716 (GRCm39)	G41V	probably damaging	Het
Mov10l1	A	G	15: 88,896,118 (GRCm39)	E654G	possibly damaging	Het
Mrgpra2a	T	G	7: 47,076,394 (GRCm39)	Y288S	probably damaging	Het
Mroh9	T	A	1: 162,890,030 (GRCm39)	M236L		Het
Muc5b	A	C	7: 141,417,974 (GRCm39)	K3640T	probably damaging	Het
Myh13	A	G	11: 67,253,318 (GRCm39)	I1485V	probably benign	Het
Nf2	A	T	11: 4,744,873 (GRCm39)	F285L	probably damaging	Het
Nfx1	T	A	4: 40,990,845 (GRCm39)	C471S	probably damaging	Het
Nsd1	C	T	13: 55,361,253 (GRCm39)	R74W	probably damaging	Het
Nudt16l1	A	T	16: 4,758,281 (GRCm39)	*212C	probably null	Het
Oaf	T	C	9: 43,133,992 (GRCm39)	Y243C	probably damaging	Het
Or51e1	T	C	7: 102,358,541 (GRCm39)	V25A	probably benign	Het
Or6c3	T	C	10: 129,308,690 (GRCm39)	I43T	probably benign	Het
Or7g30	T	A	9: 19,352,531 (GRCm39)	F107L	probably benign	Het
Or7h8	A	G	9: 20,124,173 (GRCm39)	H176R	possibly damaging	Het
Or8b36	T	A	9: 37,937,690 (GRCm39)	L196*	probably null	Het
Parp9	T	C	16: 35,768,543 (GRCm39)	I241T	probably damaging	Het
Phlpp2	G	T	8: 110,666,590 (GRCm39)	A1040S	possibly damaging	Het
Pon2	A	T	6: 5,265,391 (GRCm39)	V332E	possibly damaging	Het
Ptprc	A	G	1: 138,016,302 (GRCm39)	V544A	probably damaging	Het
Rfx6	A	G	10: 51,597,600 (GRCm39)	S446G	probably benign	Het
Rnf103	T	A	6: 71,487,099 (GRCm39)	C577S	probably benign	Het
Ros1	T	G	10: 51,922,301 (GRCm39)	E2278D	possibly damaging	Het
Rpl37	A	G	15: 5,147,109 (GRCm39)	S50G	probably benign	Het
Rrad	C	T	8: 105,355,343 (GRCm39)	V222M	possibly damaging	Het
Ryr1	T	C	7: 28,769,283 (GRCm39)	T2770A	probably benign	Het
Secisbp2l	G	A	2: 125,617,623 (GRCm39)	P18L	probably damaging	Het
Septin2	T	A	1: 93,429,310 (GRCm39)	W260R	probably damaging	Het
Slc35c2	A	G	2: 165,122,797 (GRCm39)	M117T	probably benign	Het
Slc44a5	A	G	3: 153,953,373 (GRCm39)	T252A	probably benign	Het
Speer4f2	T	A	5: 17,581,610 (GRCm39)	L184Q		Het
Sphkap	C	G	1: 83,234,982 (GRCm39)	V1615L	probably damaging	Het
Sult2a3	C	T	7: 13,806,981 (GRCm39)	V234I	probably benign	Het
Tanc1	T	C	2: 59,630,132 (GRCm39)	L704P	probably damaging	Het
Tas2r126	T	C	6: 42,412,174 (GRCm39)	S236P	probably benign	Het
Tnik	A	G	3: 28,704,235 (GRCm39)	I1020V	probably damaging	Het
Tomm5	T	C	4: 45,106,724 (GRCm39)	Q64R	unknown	Het
Ttll13	A	G	7: 79,897,182 (GRCm39)	E16G	probably benign	Het
Vmn1r21	C	A	6: 57,821,348 (GRCm39)	C32F	probably benign	Het
Vmn2r51	T	A	7: 9,839,480 (GRCm39)	D36V	probably damaging	Het
Vmn2r63	C	T	7: 42,576,413 (GRCm39)	D467N	probably damaging	Het
Vwce	A	G	19: 10,625,850 (GRCm39)	N454S	possibly damaging	Het
Wfdc1	A	C	8: 120,406,116 (GRCm39)	D77A		Het
Yme1l1	T	A	2: 23,077,815 (GRCm39)	I419N	probably damaging	Het
Zfp106	G	A	2: 120,364,812 (GRCm39)	Q555*	probably null	Het
Zfp773	A	C	7: 7,138,302 (GRCm39)	M111R	probably damaging	Het
Zmat3	G	A	3: 32,397,767 (GRCm39)	A165V	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
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
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
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'- CTTTCCCGATCACCCATGAG -3'
(R):5'- CAGTCTTACGGTGTTCTTAGCC -3'

Sequencing Primer
(F):5'- GGCTTCAATGAGATTCCAATTGACC -3'
(R):5'- ACGGTGTTCTTAGCCTTGGGAAG -3'

Posted On

2022-01-20