Mutagenetix > Incidental Mutation

Incidental Mutation 'R4968:Mpp2'

384207

Institutional Source

Beutler Lab

Gene Symbol

Mpp2

Ensembl Gene

ENSMUSG00000017314

Gene Name

membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)

Synonyms

Pals4, Dlgh2, D11Bwg0652e, Dlg2

MMRRC Submission

042564-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4968 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101947841-101979341 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101955124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 167 (H167R)

Ref Sequence

ENSEMBL: ENSMUSP00000097967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017458] [ENSMUST00000100398]

AlphaFold

Q9WV34

Predicted Effect

probably benign
Transcript: ENSMUST00000017458
AA Change: H150R

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000017458
Gene: ENSMUSG00000017314
AA Change: H150R

Domain	Start	End	E-Value	Type
L27	11	66	1.19e-11	SMART
L27	67	121	2.46e-13	SMART
PDZ	149	219	1.89e-10	SMART
SH3	228	292	9.77e-11	SMART
GuKc	349	540	6.55e-79	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100398
AA Change: H167R

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097967
Gene: ENSMUSG00000017314
AA Change: H167R

Domain	Start	End	E-Value	Type
low complexity region	6	24	N/A	INTRINSIC
L27	28	83	1.19e-11	SMART
L27	84	138	2.46e-13	SMART
PDZ	166	236	1.89e-10	SMART
SH3	245	309	9.77e-11	SMART
GuKc	366	557	6.55e-79	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147126

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Palmitoylated membrane protein 2 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. Palmitoylated membrane protein 2 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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	T	11: 58,769,616 (GRCm39)	K53*	probably null	Het
4921513D11Rik	T	C	17: 79,935,651 (GRCm39)	S255P	probably benign	Het
Ace	A	G	11: 105,872,679 (GRCm39)	N367S	possibly damaging	Het
Agl	A	T	3: 116,582,175 (GRCm39)	N282K	probably benign	Het
Ahnak	C	A	19: 8,992,464 (GRCm39)	P4583T	probably damaging	Het
Alpi	T	C	1: 87,029,247 (GRCm39)	D4G	probably benign	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Aplnr	T	C	2: 84,967,289 (GRCm39)	Y105H	probably damaging	Het
Arhgap9	G	A	10: 127,162,875 (GRCm39)	R395K	possibly damaging	Het
Asah1	A	G	8: 41,807,067 (GRCm39)	M119T		Het
Atp5f1b	T	C	10: 127,919,856 (GRCm39)	F75L	probably damaging	Het
B4galt6	G	T	18: 20,861,026 (GRCm39)	N75K	possibly damaging	Het
Bco1	A	T	8: 117,857,833 (GRCm39)	H486L	probably benign	Het
Btaf1	T	A	19: 36,947,351 (GRCm39)	L480Q	probably null	Het
Ccdc34	G	T	2: 109,871,078 (GRCm39)		probably null	Het
Cdh19	T	C	1: 110,852,958 (GRCm39)	S326G	probably benign	Het
Cep89	A	G	7: 35,109,055 (GRCm39)	D178G	possibly damaging	Het
Cyp11b2	A	T	15: 74,725,854 (GRCm39)		probably null	Het
Cyp21a1	A	G	17: 35,022,383 (GRCm39)	I157T	possibly damaging	Het
Dcbld2	A	G	16: 58,245,074 (GRCm39)	D116G	probably damaging	Het
Ddx5	T	C	11: 106,674,953 (GRCm39)	Q377R	probably damaging	Het
Deup1	T	C	9: 15,503,724 (GRCm39)	D279G	probably damaging	Het
F11	G	A	8: 45,698,770 (GRCm39)	A458V	probably benign	Het
Fhad1	C	A	4: 141,645,618 (GRCm39)	G326W	probably damaging	Het
Fhit	C	T	14: 10,421,522 (GRCm38)	V26M	probably damaging	Het
Gjb5	A	T	4: 127,250,015 (GRCm39)	V43E	probably damaging	Het
Grtp1	A	T	8: 13,242,184 (GRCm39)	I75N	probably damaging	Het
Hmcn1	A	G	1: 150,533,221 (GRCm39)	I3022T	possibly damaging	Het
Hsp90ab1	T	C	17: 45,881,962 (GRCm39)	T166A	probably benign	Het
Ift70b	T	C	2: 75,768,391 (GRCm39)	I121V	probably benign	Het
Iho1	C	T	9: 108,289,713 (GRCm39)	V170M	probably benign	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Kcnk10	T	C	12: 98,401,161 (GRCm39)	I491V	probably benign	Het
Kcp	A	T	6: 29,497,628 (GRCm39)	C519*	probably null	Het
Lcmt2	T	C	2: 120,970,217 (GRCm39)	T69A	probably benign	Het
Lmf1	A	G	17: 25,804,592 (GRCm39)	Y90C	probably damaging	Het
Lpp	A	G	16: 24,798,064 (GRCm39)	D612G	probably damaging	Het
Lrfn5	C	A	12: 61,886,461 (GRCm39)	S83Y	probably damaging	Het
Lrp1b	T	C	2: 40,592,719 (GRCm39)		probably null	Het
Lrp1b	C	T	2: 41,679,074 (GRCm39)	C6Y	probably damaging	Het
Lrrc8c	A	G	5: 105,754,993 (GRCm39)	D256G	probably damaging	Het
Mphosph10	A	G	7: 64,032,656 (GRCm39)	Y478H	probably damaging	Het
Mtss1	A	G	15: 58,815,767 (GRCm39)	S598P	probably damaging	Het
Myh10	A	G	11: 68,684,049 (GRCm39)	E1154G	probably damaging	Het
Myo10	T	C	15: 25,808,270 (GRCm39)	V1218A	probably damaging	Het
Myo19	A	G	11: 84,792,328 (GRCm39)	K599R	probably damaging	Het
Neurl4	T	C	11: 69,798,134 (GRCm39)	M771T	probably damaging	Het
Nlrc4	A	G	17: 74,753,936 (GRCm39)	V149A	probably benign	Het
Nup133	A	T	8: 124,641,935 (GRCm39)	S843T	probably benign	Het
Or2y1c	T	C	11: 49,361,358 (GRCm39)	C127R	probably damaging	Het
Or51k1	T	C	7: 103,661,777 (GRCm39)	N44S	probably damaging	Het
P3h2	A	G	16: 25,811,412 (GRCm39)		probably null	Het
Piezo2	A	T	18: 63,278,042 (GRCm39)	Y287*	probably null	Het
Prob1	T	C	18: 35,785,605 (GRCm39)	Y883C	probably damaging	Het
Pxdn	T	A	12: 30,050,011 (GRCm39)	H506Q	probably benign	Het
Ripor3	T	C	2: 167,827,037 (GRCm39)	D658G	probably benign	Het
Rufy1	T	A	11: 50,301,434 (GRCm39)	I333L	probably benign	Het
Selenok	T	A	14: 29,692,064 (GRCm39)	V34E	probably benign	Het
Selplg	T	C	5: 113,957,787 (GRCm39)	E173G	possibly damaging	Het
Septin10	A	G	10: 59,016,943 (GRCm39)	F194L	probably damaging	Het
Sptbn2	A	T	19: 4,779,230 (GRCm39)		probably null	Het
St6galnac6	C	T	2: 32,498,098 (GRCm39)	P6S	probably benign	Het
Syngr2	T	C	11: 117,704,296 (GRCm39)	Y194H	probably damaging	Het
Thbs4	A	G	13: 92,894,576 (GRCm39)	I649T	possibly damaging	Het
Triobp	T	A	15: 78,850,816 (GRCm39)	N323K	probably benign	Het
Tuba8	T	A	6: 121,197,548 (GRCm39)	L70Q	probably damaging	Het
Vmn2r61	A	G	7: 41,949,478 (GRCm39)	T633A	probably benign	Het
Zfp280b	G	T	10: 75,875,188 (GRCm39)	V356L	probably damaging	Het
Zswim4	A	T	8: 84,944,001 (GRCm39)	V746D	probably benign	Het

Other mutations in Mpp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01367:Mpp2	APN	11	101,954,135 (GRCm39)	missense	probably damaging	1.00
IGL01564:Mpp2	APN	11	101,952,345 (GRCm39)	missense	probably benign	0.01
IGL02158:Mpp2	APN	11	101,954,088 (GRCm39)	missense	probably benign	0.01
IGL02456:Mpp2	APN	11	101,950,199 (GRCm39)	missense	possibly damaging	0.72
IGL03271:Mpp2	APN	11	101,954,249 (GRCm39)	splice site	probably benign
R0488:Mpp2	UTSW	11	101,952,427 (GRCm39)	missense	possibly damaging	0.64
R0512:Mpp2	UTSW	11	101,953,116 (GRCm39)	missense	possibly damaging	0.64
R0960:Mpp2	UTSW	11	101,952,411 (GRCm39)	missense	possibly damaging	0.80
R1572:Mpp2	UTSW	11	101,951,374 (GRCm39)	missense	probably benign	0.07
R1740:Mpp2	UTSW	11	101,953,222 (GRCm39)	splice site	probably null
R1867:Mpp2	UTSW	11	101,955,493 (GRCm39)	missense	probably benign	0.09
R2133:Mpp2	UTSW	11	101,955,421 (GRCm39)	missense	probably benign	0.01
R2277:Mpp2	UTSW	11	101,955,127 (GRCm39)	missense	probably damaging	0.97
R2279:Mpp2	UTSW	11	101,955,127 (GRCm39)	missense	probably damaging	0.97
R2313:Mpp2	UTSW	11	101,952,898 (GRCm39)	missense	possibly damaging	0.77
R2882:Mpp2	UTSW	11	101,955,459 (GRCm39)	missense	probably benign	0.00
R3429:Mpp2	UTSW	11	101,976,141 (GRCm39)	missense	probably benign
R4719:Mpp2	UTSW	11	101,955,259 (GRCm39)	missense	possibly damaging	0.93
R4959:Mpp2	UTSW	11	101,954,117 (GRCm39)	missense	probably damaging	1.00
R5715:Mpp2	UTSW	11	101,953,087 (GRCm39)	missense	probably damaging	1.00
R5778:Mpp2	UTSW	11	101,955,269 (GRCm39)	missense	probably benign	0.06
R6034:Mpp2	UTSW	11	101,952,460 (GRCm39)	missense	possibly damaging	0.88
R6034:Mpp2	UTSW	11	101,952,460 (GRCm39)	missense	possibly damaging	0.88
R6045:Mpp2	UTSW	11	101,950,180 (GRCm39)	missense	probably benign	0.05
R6275:Mpp2	UTSW	11	101,951,795 (GRCm39)	missense	probably damaging	1.00
R6458:Mpp2	UTSW	11	101,971,595 (GRCm39)	missense	probably benign	0.01
R6884:Mpp2	UTSW	11	101,952,904 (GRCm39)	missense	probably benign	0.23
R6980:Mpp2	UTSW	11	101,950,154 (GRCm39)	missense	probably damaging	1.00
R7699:Mpp2	UTSW	11	101,950,261 (GRCm39)	missense	probably damaging	0.99
R8746:Mpp2	UTSW	11	101,954,040 (GRCm39)	missense	probably damaging	1.00
R8752:Mpp2	UTSW	11	101,976,129 (GRCm39)	missense	probably benign
R9031:Mpp2	UTSW	11	101,954,099 (GRCm39)	missense	probably benign
R9338:Mpp2	UTSW	11	101,951,249 (GRCm39)	missense	probably benign	0.10
R9503:Mpp2	UTSW	11	101,955,468 (GRCm39)	missense	probably benign	0.28
R9508:Mpp2	UTSW	11	101,951,692 (GRCm39)	missense	probably damaging	1.00
X0067:Mpp2	UTSW	11	101,955,211 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- AGCATCCTGAGGGAGAATGA -3'
(R):5'- CTGGGCATTTCCACATTATCCG -3'

Sequencing Primer
(F):5'- GAGTGTGTGTCCATATTTATAGTGTG -3'
(R):5'- GGGCATTTCCACATTATCCGTTCTC -3'

Posted On

2016-04-27