Mutagenetix > Incidental Mutations

Incidental Mutation 'R5133:Jup'

395952

Institutional Source

Beutler Lab

Gene Symbol

Jup

Ensembl Gene

ENSMUSG00000001552

Gene Name

junction plakoglobin

Synonyms

PG, gamma-catenin, Ctnng, plakoglobin, D930025P04Rik

MMRRC Submission

042721-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5133 (G1)

Quality Score

202

Status

Not validated

Chromosome

Chromosomal Location

100368958-100397763 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100383115 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 200 (D200G)

Ref Sequence

ENSEMBL: ENSMUSP00000103026 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001592] [ENSMUST00000107403]

Predicted Effect

probably benign
Transcript: ENSMUST00000001592
AA Change: D200G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000001592
Gene: ENSMUSG00000001552
AA Change: D200G

Domain	Start	End	E-Value	Type
low complexity region	52	63	N/A	INTRINSIC
ARM	132	171	3.58e1	SMART
ARM	172	214	4.03e1	SMART
ARM	215	255	1.07e-4	SMART
ARM	256	297	1.66e-1	SMART
ARM	299	340	1.86e1	SMART
ARM	341	381	9.23e-9	SMART
ARM	382	420	2.29e1	SMART
ARM	422	464	7.34e-3	SMART
ARM	469	510	8.3e-2	SMART
ARM	511	572	7.45e-4	SMART
ARM	573	613	5.35e-5	SMART
ARM	614	654	1.56e1	SMART
low complexity region	708	723	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107403
AA Change: D200G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000103026
Gene: ENSMUSG00000001552
AA Change: D200G

Domain	Start	End	E-Value	Type
low complexity region	52	63	N/A	INTRINSIC
ARM	132	171	3.58e1	SMART
ARM	172	214	4.03e1	SMART
ARM	215	255	1.07e-4	SMART
ARM	256	297	1.66e-1	SMART
ARM	299	340	1.86e1	SMART
ARM	341	381	9.23e-9	SMART
ARM	382	420	2.29e1	SMART
ARM	422	464	7.34e-3	SMART
ARM	469	510	8.3e-2	SMART
ARM	511	572	7.45e-4	SMART
ARM	573	613	5.35e-5	SMART
ARM	614	654	1.56e1	SMART
low complexity region	708	723	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155746

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants die with severe heart defects at embryonic day 10.5-16, depending on genetic background. Mutants that survive to birth exhibit skin blistering and subcorneal acantholysis associated with reduced number of desmosomes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	C	T	18: 57,563,969	T65I	possibly damaging	Het
A3galt2	A	T	4: 128,762,141	T101S	probably damaging	Het
Abraxas2	C	T	7: 132,883,146	A306V	probably benign	Het
Acvr1c	T	A	2: 58,283,506	N248I	probably damaging	Het
Adgrv1	C	T	13: 81,439,441	R4537Q	probably damaging	Het
Adrb3	A	C	8: 27,227,770	M217R	probably damaging	Het
Afg3l1	T	C	8: 123,489,793	V257A	probably benign	Het
Agbl1	C	A	7: 76,422,156	Q334K	probably benign	Het
Aox4	A	T	1: 58,236,676	D389V	probably benign	Het
Apob	A	T	12: 8,008,898	Q2427L	probably damaging	Het
Asxl3	T	C	18: 22,516,708	C585R	probably damaging	Het
Baz2a	G	A	10: 128,116,126	G571D	probably damaging	Het
Baz2b	A	T	2: 59,962,024	S587T	probably benign	Het
Bicdl2	T	C	17: 23,661,821	L14P	unknown	Het
Cachd1	G	A	4: 100,994,738	S1177N	probably damaging	Het
Cacna2d3	A	G	14: 29,293,178	F86L	possibly damaging	Het
Cd3d	A	T	9: 44,984,998	E28D	probably damaging	Het
Cmya5	T	C	13: 93,093,372	K1736R	possibly damaging	Het
Col12a1	A	G	9: 79,605,174	V2913A	probably damaging	Het
Cops8	A	G	1: 90,611,002	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,460,971	E194G	probably benign	Het
Csn1s1	A	G	5: 87,680,878	D267G	possibly damaging	Het
Cyp2c40	T	C	19: 39,807,219	N172S	probably benign	Het
Dhtkd1	T	A	2: 5,904,002	K760N	probably damaging	Het
Dnah17	T	C	11: 118,117,113	K691E	probably benign	Het
Dppa4	G	A	16: 48,292,971	R189Q	probably benign	Het
Dsp	G	A	13: 38,197,702	D2808N	possibly damaging	Het
Egr2	A	G	10: 67,539,775	E17G	probably damaging	Het
Ehmt1	G	T	2: 24,877,497	P135T	probably damaging	Het
Epas1	A	G	17: 86,809,454	N184S	probably damaging	Het
Ezh2	C	T	6: 47,540,750	C584Y	probably damaging	Het
F10	T	C	8: 13,055,698	V421A	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam186a	T	G	15: 99,955,493	D122A	unknown	Het
Fam227b	G	A	2: 126,116,123	P241S	probably damaging	Het
Fam234b	T	C	6: 135,209,195	V67A	probably benign	Het
Fbn2	T	C	18: 58,039,340	D2131G	probably damaging	Het
Fgfr4	T	C	13: 55,160,015	Y271H	probably damaging	Het
Gm960	T	A	19: 4,658,421	S194C	probably damaging	Het
Gnmt	A	T	17: 46,725,934	S250T	probably benign	Het
Golgb1	C	A	16: 36,891,457	Q208K	possibly damaging	Het
Grn	C	A	11: 102,430,554		probably benign	Het
Grwd1	T	C	7: 45,825,874	T415A	probably benign	Het
Gsk3b	G	A	16: 38,240,520	R418H	probably damaging	Het
Hap1	T	G	11: 100,351,531	M382L	probably benign	Het
Hspa12b	A	G	2: 131,139,508	E221G	possibly damaging	Het
Hspa4l	T	A	3: 40,786,747	D709E	possibly damaging	Het
Il17ra	A	G	6: 120,481,553	E555G	possibly damaging	Het
Il27ra	T	C	8: 84,034,059	T426A	possibly damaging	Het
Kcnq1	T	C	7: 143,194,346		probably null	Het
Kctd9	C	T	14: 67,729,356	T106I	probably damaging	Het
Kmt5b	T	A	19: 3,802,240	H159Q	probably damaging	Het
Kprp	C	T	3: 92,824,522	R407Q	unknown	Het
Kras	T	C	6: 145,232,153	Q131R	probably benign	Het
Krt16	T	A	11: 100,247,631	R230S	probably damaging	Het
Lpar6	G	A	14: 73,238,707	C36Y	probably damaging	Het
Lrp10	T	C	14: 54,469,610	S635P	probably benign	Het
Mapre2	C	A	18: 23,858,133	H153N	possibly damaging	Het
Mark3	C	A	12: 111,655,328	R703S	probably damaging	Het
Mboat2	A	G	12: 24,959,066	D457G	probably benign	Het
Med13	T	C	11: 86,319,849	D489G	probably benign	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Mtus1	T	C	8: 41,083,192	T496A	probably benign	Het
Mum1	T	C	10: 80,232,868	L282P	probably benign	Het
Nckap5	T	C	1: 126,033,960	H204R	probably benign	Het
Nlrc4	G	T	17: 74,446,717	P224T	possibly damaging	Het
Olfr1221	A	T	2: 89,111,796		probably null	Het
Olfr1434	T	C	19: 12,283,306	L86P	possibly damaging	Het
Olfr1480	T	A	19: 13,530,078	M135K	probably damaging	Het
Olfr60	A	T	7: 140,345,323	I222N	probably damaging	Het
Oprl1	T	A	2: 181,718,610	I153N	probably damaging	Het
Otud4	G	A	8: 79,655,689	V176I	probably damaging	Het
Pcdhb5	T	C	18: 37,320,890	F108L	probably benign	Het
Pde8b	T	C	13: 95,086,742	I335V	probably benign	Het
Pdzd7	T	A	19: 45,028,429	I886L	possibly damaging	Het
Prune2	C	T	19: 17,003,631	P51S	probably damaging	Het
Ptpre	C	T	7: 135,669,132	H346Y	probably benign	Het
Rab27b	T	C	18: 69,989,588	D100G	probably damaging	Het
Rpf1	A	G	3: 146,506,538	L349S	probably damaging	Het
Samd14	T	C	11: 95,021,583	S233P	probably damaging	Het
Sema6a	C	A	18: 47,300,128	V79F	probably damaging	Het
Setbp1	A	G	18: 78,857,482	I990T	probably damaging	Het
Setx	A	G	2: 29,180,081	R2633G	probably benign	Het
Siae	T	G	9: 37,646,520	I541S	possibly damaging	Het
Slc13a1	A	G	6: 24,103,429	S372P	possibly damaging	Het
Smarcc2	T	C	10: 128,461,473		probably null	Het
Snrpf	T	C	10: 93,588,123	S2G	probably benign	Het
Speer2	C	A	16: 69,858,820	K39N	probably null	Het
Spink5	T	G	18: 43,986,423	F267C	probably damaging	Het
Tgfbrap1	G	T	1: 43,075,506	R145S	probably damaging	Het
Tmem161b	C	A	13: 84,294,768	T269K	possibly damaging	Het
Tmem64	T	C	4: 15,281,119	I304T	probably damaging	Het
Tomm7	A	G	5: 23,844,006	I23T	probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ttr	C	T	18: 20,670,110	A111V	possibly damaging	Het
Usp47	T	A	7: 112,083,882	Y561N	probably damaging	Het
Vmn1r17	A	G	6: 57,360,843	V130A	probably benign	Het
Wdr45b	A	G	11: 121,328,795	I309T	probably benign	Het
Wnt6	T	C	1: 74,784,596	L364P	probably damaging	Het
Zc3h13	T	C	14: 75,336,009	L1530P	probably damaging	Het
Zfp933	A	G	4: 147,826,864	W60R	probably benign	Het

Other mutations in Jup

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01141:Jup	APN	11	100386249	missense	probably benign
IGL01797:Jup	APN	11	100381672	splice site	probably benign
IGL01926:Jup	APN	11	100383586	missense	probably benign	0.00
IGL02030:Jup	APN	11	100376991	missense	probably damaging	0.96
IGL02073:Jup	APN	11	100383389	splice site	probably benign
IGL02218:Jup	APN	11	100381839	missense	probably damaging	1.00
IGL02450:Jup	APN	11	100378357	missense	probably damaging	1.00
IGL02955:Jup	APN	11	100376739	missense	probably benign	0.31
IGL02976:Jup	APN	11	100378366	missense	probably benign	0.40
IGL03023:Jup	APN	11	100380692	splice site	probably benign
Jove	UTSW	11	100386287	missense	probably damaging	1.00
IGL02802:Jup	UTSW	11	100378378	missense	probably benign
PIT4403001:Jup	UTSW	11	100378087	critical splice donor site	probably null
R0426:Jup	UTSW	11	100372401	missense	probably benign	0.02
R0626:Jup	UTSW	11	100376763	missense	probably benign
R1330:Jup	UTSW	11	100372676	missense	probably benign	0.02
R1437:Jup	UTSW	11	100383576	missense	probably benign	0.06
R1448:Jup	UTSW	11	100383200	missense	probably damaging	1.00
R1473:Jup	UTSW	11	100379601	missense	possibly damaging	0.79
R1686:Jup	UTSW	11	100372434	missense	probably damaging	0.96
R1824:Jup	UTSW	11	100374137	nonsense	probably null
R1875:Jup	UTSW	11	100372294	splice site	probably null
R2017:Jup	UTSW	11	100386341	missense	probably benign	0.01
R2989:Jup	UTSW	11	100376841	missense	possibly damaging	0.92
R3881:Jup	UTSW	11	100378381	missense	probably benign
R3882:Jup	UTSW	11	100378381	missense	probably benign
R4176:Jup	UTSW	11	100372461	missense	probably benign	0.03
R4612:Jup	UTSW	11	100381834	missense	probably damaging	0.98
R4808:Jup	UTSW	11	100378192	missense	probably damaging	0.99
R4854:Jup	UTSW	11	100383041	missense	possibly damaging	0.73
R4995:Jup	UTSW	11	100379541	nonsense	probably null
R5408:Jup	UTSW	11	100376781	missense	probably damaging	1.00
R5641:Jup	UTSW	11	100376806	missense	possibly damaging	0.62
R5991:Jup	UTSW	11	100379569	missense	possibly damaging	0.59
R6431:Jup	UTSW	11	100374341	missense	probably benign	0.01
R6805:Jup	UTSW	11	100383458	missense	probably benign	0.17
R7022:Jup	UTSW	11	100379553	missense	probably damaging	1.00
R7203:Jup	UTSW	11	100381734	missense	probably damaging	1.00
R7399:Jup	UTSW	11	100378351	missense	possibly damaging	0.87
R7707:Jup	UTSW	11	100383052	missense	possibly damaging	0.90
R8017:Jup	UTSW	11	100374197	missense	probably benign	0.34
R8019:Jup	UTSW	11	100374197	missense	probably benign	0.34
R8074:Jup	UTSW	11	100386287	missense	probably damaging	1.00
R8181:Jup	UTSW	11	100376925	missense	probably damaging	1.00
R8326:Jup	UTSW	11	100381745	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- CCCAGAGTTGTCAAAGCTCTG -3'
(R):5'- GAGGCTATCTGCTCAAGGTC -3'

Sequencing Primer
(F):5'- CAACTTGTATTGGAAGCCCAG -3'
(R):5'- GGCTATCTGCTCAAGGTCTCACAC -3'

Posted On

2016-06-21