Mutagenetix > Incidental Mutations

Incidental Mutation 'R1875:Jup'

211169

Institutional Source

Beutler Lab

Gene Symbol

Jup

Ensembl Gene

ENSMUSG00000001552

Gene Name

junction plakoglobin

Synonyms

PG, gamma-catenin, Ctnng, plakoglobin, D930025P04Rik

MMRRC Submission

039897-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1875 (G1)

Quality Score

113

Status

Not validated

Chromosome

Chromosomal Location

100368958-100397763 bp(-) (GRCm38)

Type of Mutation

splice site (2 bp from exon)

DNA Base Change (assembly)

A to G at 100372294 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103026 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000001592

SMART Domains

Protein: ENSMUSP00000001592
Gene: ENSMUSG00000001552

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 null
Transcript: ENSMUST00000107403

SMART Domains

Protein: ENSMUSP00000103026
Gene: ENSMUSG00000001552

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: ENSMUST00000124659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152774

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.1%

Validation Efficiency

98% (85/87)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	C	14: 49,682,358	D772G	probably damaging	Het
Abca14	A	T	7: 120,247,967	M685L	possibly damaging	Het
Abi3bp	A	G	16: 56,574,499	Y190C	probably damaging	Het
Adam26a	C	A	8: 43,569,851	V201L	probably benign	Het
Adamts20	G	T	15: 94,331,396	D947E	probably benign	Het
Ankrd26	A	G	6: 118,540,449		probably null	Het
Apol11a	C	A	15: 77,513,566	T39N	possibly damaging	Het
Arhgef38	T	A	3: 133,133,740		probably null	Het
Atp11b	T	C	3: 35,839,147	L883P	probably damaging	Het
Btnl10	T	A	11: 58,923,760	I422N	probably damaging	Het
C2cd3	A	G	7: 100,407,025	K547E	possibly damaging	Het
Cdh2	T	A	18: 16,624,877	L549F	probably benign	Het
Celsr3	T	C	9: 108,835,838	V1825A	probably benign	Het
Cfap221	T	C	1: 119,953,659	I358V	probably benign	Het
Csmd1	T	C	8: 15,929,101	K2828E	probably damaging	Het
Ddah2	T	C	17: 35,060,845	F137S	probably damaging	Het
Ddx21	A	G	10: 62,594,068	I299T	probably damaging	Het
Dnah7a	A	T	1: 53,456,532		probably benign	Het
Elmod1	A	G	9: 53,935,867	I9T	probably benign	Het
Epha2	A	G	4: 141,308,979	E242G	probably benign	Het
Erbb3	T	C	10: 128,574,466	H641R	possibly damaging	Het
Fbxl18	G	A	5: 142,886,223	A419V	probably damaging	Het
Fli1	T	C	9: 32,423,913	M408V	probably benign	Het
Fmo4	T	C	1: 162,803,618	N260S	possibly damaging	Het
Fry	A	G	5: 150,326,132	E136G	probably damaging	Het
Gm10477	T	A	X: 56,524,767	F9Y	probably damaging	Het
Gm8258	A	G	5: 104,776,454		noncoding transcript	Het
Gpr68	T	A	12: 100,878,790	D165V	probably damaging	Het
Htt	T	A	5: 34,794,112	M139K	probably benign	Het
Kifc5b	G	A	17: 26,917,290		probably null	Het
Krba1	T	A	6: 48,414,049		probably null	Het
Lamp1	G	A	8: 13,167,257	G89R	probably damaging	Het
Lexm	G	A	4: 106,613,256		probably benign	Het
Lrrc17	C	T	5: 21,560,652	S44F	possibly damaging	Het
Mdga1	T	C	17: 29,852,607	T347A	probably damaging	Het
Mical3	A	T	6: 121,042,064	W66R	probably damaging	Het
Mpl	A	G	4: 118,456,829	Y73H	probably benign	Het
Mterf1b	T	A	5: 4,197,364	I335N	possibly damaging	Het
Mylk3	A	G	8: 85,352,865	I388T	probably damaging	Het
Myo15	C	T	11: 60,507,528	R2775W	probably damaging	Het
Myoz2	A	T	3: 123,026,116	S65T	probably damaging	Het
Ndrg1	T	C	15: 66,931,091	T137A	possibly damaging	Het
Neil3	G	T	8: 53,599,419	N381K	probably damaging	Het
Obsl1	T	C	1: 75,498,233	Y841C	probably damaging	Het
Olfr124	A	G	17: 37,805,105		probably benign	Het
Olfr711	G	A	7: 106,972,182	S54F	possibly damaging	Het
Otogl	T	C	10: 107,899,590	D111G	probably damaging	Het
Parp10	T	C	15: 76,242,851	E103G	probably damaging	Het
Pars2	T	C	4: 106,653,716	F232L	possibly damaging	Het
Pcdh18	A	T	3: 49,754,705	F720L	probably damaging	Het
Phf3	T	C	1: 30,830,623	E448G	possibly damaging	Het
Pigc	A	G	1: 161,970,947	Y166C	probably damaging	Het
Pik3c2a	A	T	7: 116,417,971	S184T	probably benign	Het
Pkd1l1	A	G	11: 8,844,670		probably benign	Het
Plch2	G	A	4: 154,998,508	S485F	probably damaging	Het
Plxnd1	G	T	6: 115,978,084		probably null	Het
Pnliprp2	G	T	19: 58,763,389	V189L	probably benign	Het
Prl8a2	T	C	13: 27,351,054	V103A	probably benign	Het
Psg23	G	A	7: 18,610,450	T360I	probably benign	Het
Rad51c	A	T	11: 87,388,643	I323N	probably damaging	Het
Rsbn1l	C	T	5: 20,951,698	E30K	probably benign	Het
Serpina3c	C	A	12: 104,151,886	L64F	probably damaging	Het
Shroom1	A	G	11: 53,465,675	D392G	probably damaging	Het
Slc26a5	T	A	5: 21,815,727	I540L	probably benign	Het
Slc37a4	A	G	9: 44,401,511	T321A	probably damaging	Het
Slc41a2	A	G	10: 83,256,085	L438S	probably damaging	Het
Spef2	C	T	15: 9,584,108	E1624K	probably damaging	Het
Spef2	C	T	15: 9,597,401	G1390R	possibly damaging	Het
Synj2	G	T	17: 6,028,550	A740S	possibly damaging	Het
Thegl	A	T	5: 77,054,584	K284M	probably benign	Het
Tigd4	A	C	3: 84,595,087	D437A	probably benign	Het
Timm21	G	C	18: 84,949,262	L130V	probably damaging	Het
Tmem106a	CAGCTCAACACGACGGTA	CAGCTCAACACGACGGTAAGCTCAACACGACGGTA	11: 101,586,378		probably benign	Het
Tmem131l	A	T	3: 83,905,076	C1313*	probably null	Het
Tmem86b	A	T	7: 4,629,699	I47N	possibly damaging	Het
Tspan13	T	C	12: 36,020,551		probably null	Het
Vps54	A	G	11: 21,300,251	T396A	probably benign	Het
Zfp106	A	T	2: 120,513,615		probably null	Het
Zfp668	T	C	7: 127,866,482		probably null	Het
Zfp809	A	T	9: 22,238,731	R175*	probably null	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
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
R5133:Jup	UTSW	11	100383115	missense	probably benign	0.02
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'- AGCCAGGGTTTATAGCCCAG -3'
(R):5'- TGCAGATCTCCAAATAAGCCTTCC -3'

Sequencing Primer
(F):5'- CCAGGGTTTATAGCCCAGGATGG -3'
(R):5'- CCAAATAAGCCTTCCTTTCTCG -3'

Posted On

2014-06-30