Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02030:Jup'

184339

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jup

Ensembl Gene

ENSMUSG00000001552

Gene Name

junction plakoglobin

Synonyms

D930025P04Rik, gamma-catenin, plakoglobin, PG, Ctnng

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02030

Quality Score

Status

Chromosome

Chromosomal Location

100259784-100288589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100267817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 502 (I502T)

Ref Sequence

ENSEMBL: ENSMUSP00000103026 (fasta)

Gene Model

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

AlphaFold

Q02257

Predicted Effect

probably damaging
Transcript: ENSMUST00000001592
AA Change: I502T

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000001592
Gene: ENSMUSG00000001552
AA Change: I502T

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 damaging
Transcript: ENSMUST00000107403
AA Change: I502T

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103026
Gene: ENSMUSG00000001552
AA Change: I502T

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: ENSMUST00000149798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152774

Coding Region Coverage

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	C	8: 44,021,894 (GRCm39)	D532G	probably benign	Het
Adam29	C	T	8: 56,325,157 (GRCm39)	M432I	probably benign	Het
Cbs	A	G	17: 31,844,463 (GRCm39)		probably null	Het
Ccer1	A	G	10: 97,529,472 (GRCm39)	Y45C	unknown	Het
Clu	G	A	14: 66,213,240 (GRCm39)	G209S	probably benign	Het
Ddx17	T	C	15: 79,414,577 (GRCm39)	D530G	probably benign	Het
Ddx4	T	C	13: 112,761,311 (GRCm39)		probably benign	Het
Fry	C	T	5: 150,395,083 (GRCm39)		probably benign	Het
Fut10	C	T	8: 31,726,006 (GRCm39)	Q254*	probably null	Het
Gucy2e	A	G	11: 69,114,642 (GRCm39)	F1002S	probably damaging	Het
Hsd3b6	T	C	3: 98,713,489 (GRCm39)	Y270C	probably benign	Het
Lrrc71	T	A	3: 87,652,531 (GRCm39)		probably null	Het
Mei1	T	C	15: 81,999,944 (GRCm39)	V1127A	probably benign	Het
Ncstn	A	T	1: 171,900,024 (GRCm39)		probably benign	Het
Nin	T	C	12: 70,092,042 (GRCm39)	R756G	probably damaging	Het
Notch2	C	A	3: 98,006,737 (GRCm39)		probably null	Het
Oacyl	T	C	18: 65,870,981 (GRCm39)	V394A	probably damaging	Het
Or1j19	A	G	2: 36,677,410 (GRCm39)	Y291C	probably damaging	Het
Or5b21	T	C	19: 12,839,799 (GRCm39)	F220S	probably benign	Het
Or6b13	A	G	7: 139,782,545 (GRCm39)	I46T	probably damaging	Het
Parn	A	G	16: 13,482,514 (GRCm39)		probably null	Het
Rspo3	T	G	10: 29,376,044 (GRCm39)	E173A	probably damaging	Het
Rusc2	T	A	4: 43,416,095 (GRCm39)	V467E	possibly damaging	Het
Sema7a	G	A	9: 57,862,423 (GRCm39)	E209K	possibly damaging	Het
Uchl4	T	C	9: 64,142,911 (GRCm39)	S131P	probably benign	Het
Usp54	T	C	14: 20,616,014 (GRCm39)	I769V	probably benign	Het
Xirp2	T	C	2: 67,339,325 (GRCm39)	M522T	probably benign	Het

Other mutations in Jup

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01141:Jup	APN	11	100,277,075 (GRCm39)	missense	probably benign
IGL01797:Jup	APN	11	100,272,498 (GRCm39)	splice site	probably benign
IGL01926:Jup	APN	11	100,274,412 (GRCm39)	missense	probably benign	0.00
IGL02073:Jup	APN	11	100,274,215 (GRCm39)	splice site	probably benign
IGL02218:Jup	APN	11	100,272,665 (GRCm39)	missense	probably damaging	1.00
IGL02450:Jup	APN	11	100,269,183 (GRCm39)	missense	probably damaging	1.00
IGL02955:Jup	APN	11	100,267,565 (GRCm39)	missense	probably benign	0.31
IGL02976:Jup	APN	11	100,269,192 (GRCm39)	missense	probably benign	0.40
IGL03023:Jup	APN	11	100,271,518 (GRCm39)	splice site	probably benign
Jove	UTSW	11	100,277,113 (GRCm39)	missense	probably damaging	1.00
IGL02802:Jup	UTSW	11	100,269,204 (GRCm39)	missense	probably benign
PIT4403001:Jup	UTSW	11	100,268,913 (GRCm39)	critical splice donor site	probably null
R0426:Jup	UTSW	11	100,263,227 (GRCm39)	missense	probably benign	0.02
R0626:Jup	UTSW	11	100,267,589 (GRCm39)	missense	probably benign
R1330:Jup	UTSW	11	100,263,502 (GRCm39)	missense	probably benign	0.02
R1437:Jup	UTSW	11	100,274,402 (GRCm39)	missense	probably benign	0.06
R1448:Jup	UTSW	11	100,274,026 (GRCm39)	missense	probably damaging	1.00
R1473:Jup	UTSW	11	100,270,427 (GRCm39)	missense	possibly damaging	0.79
R1686:Jup	UTSW	11	100,263,260 (GRCm39)	missense	probably damaging	0.96
R1824:Jup	UTSW	11	100,264,963 (GRCm39)	nonsense	probably null
R1875:Jup	UTSW	11	100,263,120 (GRCm39)	splice site	probably null
R2017:Jup	UTSW	11	100,277,167 (GRCm39)	missense	probably benign	0.01
R2989:Jup	UTSW	11	100,267,667 (GRCm39)	missense	possibly damaging	0.92
R3881:Jup	UTSW	11	100,269,207 (GRCm39)	missense	probably benign
R3882:Jup	UTSW	11	100,269,207 (GRCm39)	missense	probably benign
R4176:Jup	UTSW	11	100,263,287 (GRCm39)	missense	probably benign	0.03
R4612:Jup	UTSW	11	100,272,660 (GRCm39)	missense	probably damaging	0.98
R4808:Jup	UTSW	11	100,269,018 (GRCm39)	missense	probably damaging	0.99
R4854:Jup	UTSW	11	100,273,867 (GRCm39)	missense	possibly damaging	0.73
R4995:Jup	UTSW	11	100,270,367 (GRCm39)	nonsense	probably null
R5133:Jup	UTSW	11	100,273,941 (GRCm39)	missense	probably benign	0.02
R5408:Jup	UTSW	11	100,267,607 (GRCm39)	missense	probably damaging	1.00
R5641:Jup	UTSW	11	100,267,632 (GRCm39)	missense	possibly damaging	0.62
R5991:Jup	UTSW	11	100,270,395 (GRCm39)	missense	possibly damaging	0.59
R6431:Jup	UTSW	11	100,265,167 (GRCm39)	missense	probably benign	0.01
R6805:Jup	UTSW	11	100,274,284 (GRCm39)	missense	probably benign	0.17
R7022:Jup	UTSW	11	100,270,379 (GRCm39)	missense	probably damaging	1.00
R7203:Jup	UTSW	11	100,272,560 (GRCm39)	missense	probably damaging	1.00
R7399:Jup	UTSW	11	100,269,177 (GRCm39)	missense	possibly damaging	0.87
R7707:Jup	UTSW	11	100,273,878 (GRCm39)	missense	possibly damaging	0.90
R8017:Jup	UTSW	11	100,265,023 (GRCm39)	missense	probably benign	0.34
R8019:Jup	UTSW	11	100,265,023 (GRCm39)	missense	probably benign	0.34
R8074:Jup	UTSW	11	100,277,113 (GRCm39)	missense	probably damaging	1.00
R8181:Jup	UTSW	11	100,267,751 (GRCm39)	missense	probably damaging	1.00
R8326:Jup	UTSW	11	100,272,571 (GRCm39)	missense	probably benign	0.33
R8969:Jup	UTSW	11	100,270,391 (GRCm39)	missense	probably damaging	1.00
R8970:Jup	UTSW	11	100,270,391 (GRCm39)	missense	probably damaging	1.00
R8971:Jup	UTSW	11	100,270,391 (GRCm39)	missense	probably damaging	1.00
R9139:Jup	UTSW	11	100,270,391 (GRCm39)	missense	probably damaging	1.00
R9140:Jup	UTSW	11	100,270,391 (GRCm39)	missense	probably damaging	1.00
R9145:Jup	UTSW	11	100,269,124 (GRCm39)	missense	probably benign	0.01
R9168:Jup	UTSW	11	100,274,219 (GRCm39)	critical splice donor site	probably null
R9370:Jup	UTSW	11	100,270,391 (GRCm39)	missense	probably damaging	1.00
R9372:Jup	UTSW	11	100,270,391 (GRCm39)	missense	probably damaging	1.00
R9373:Jup	UTSW	11	100,270,391 (GRCm39)	missense	probably damaging	1.00
R9381:Jup	UTSW	11	100,270,391 (GRCm39)	missense	probably damaging	1.00
R9506:Jup	UTSW	11	100,267,704 (GRCm39)	missense	probably damaging	1.00
R9685:Jup	UTSW	11	100,274,237 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07