Mutagenetix > Incidental Mutation

Incidental Mutation 'R1473:Jup'

165940

Institutional Source

Beutler Lab

Gene Symbol

Jup

Ensembl Gene

ENSMUSG00000001552

Gene Name

junction plakoglobin

Synonyms

D930025P04Rik, gamma-catenin, plakoglobin, PG, Ctnng

MMRRC Submission

039526-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1473 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100259784-100288589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100270427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 360 (H360R)

Ref Sequence

ENSEMBL: ENSMUSP00000103026 (fasta)

Gene Model

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

AlphaFold

Q02257

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001592
AA Change: H360R

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000001592
Gene: ENSMUSG00000001552
AA Change: H360R

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

possibly damaging
Transcript: ENSMUST00000107403
AA Change: H360R

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103026
Gene: ENSMUSG00000001552
AA Change: H360R

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

Meta Mutation Damage Score

0.3900

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

98% (88/90)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,056,668 (GRCm39)	D342G	probably damaging	Het
Acad8	T	C	9: 26,890,337 (GRCm39)	T293A	probably benign	Het
Adamts13	C	A	2: 26,871,765 (GRCm39)	Y310*	probably null	Het
Adcy6	T	A	15: 98,490,624 (GRCm39)	Y1102F	probably damaging	Het
Ahctf1	G	A	1: 179,603,673 (GRCm39)	T791M	probably benign	Het
Ahctf1	A	G	1: 179,626,844 (GRCm39)	V18A	probably damaging	Het
Ahcyl	T	A	16: 45,975,182 (GRCm39)	E65V	probably damaging	Het
Ampd3	T	G	7: 110,404,142 (GRCm39)	S564R	probably damaging	Het
Anapc1	A	T	2: 128,459,617 (GRCm39)	I1814K	possibly damaging	Het
Arl4c	A	T	1: 88,629,331 (GRCm39)	L19Q	probably damaging	Het
Atp6v0e2	T	C	6: 48,516,198 (GRCm39)	Y49H	probably damaging	Het
Ccdc121rt3	T	C	5: 112,502,415 (GRCm39)	T430A	probably benign	Het
Ccdc24	G	T	4: 117,727,101 (GRCm39)		probably benign	Het
Ceacam23	A	G	7: 17,639,016 (GRCm39)		noncoding transcript	Het
Clcn6	A	C	4: 148,108,613 (GRCm39)	F139V	possibly damaging	Het
Col2a1	A	G	15: 97,880,789 (GRCm39)		probably benign	Het
Crip2	T	A	12: 113,107,120 (GRCm39)	C29S	probably damaging	Het
Cyp2a4	A	C	7: 26,014,188 (GRCm39)	N455T	probably benign	Het
Dhcr7	T	C	7: 143,400,805 (GRCm39)	Y323H	probably damaging	Het
Dhcr7	A	G	7: 143,395,105 (GRCm39)	D113G	probably damaging	Het
Dnah7a	A	C	1: 53,535,173 (GRCm39)	S2696A	probably benign	Het
Dnajc12	A	G	10: 63,233,023 (GRCm39)	T55A	probably benign	Het
Drosha	G	A	15: 12,912,606 (GRCm39)	E1075K	probably benign	Het
Duox2	A	G	2: 122,117,602 (GRCm39)	S911P	possibly damaging	Het
Ephb2	G	A	4: 136,421,369 (GRCm39)	A327V	possibly damaging	Het
Espl1	C	T	15: 102,228,878 (GRCm39)	T1711I	possibly damaging	Het
Fmnl2	A	G	2: 52,748,219 (GRCm39)	K22R	possibly damaging	Het
Fzd6	T	C	15: 38,894,358 (GRCm39)	F175L	probably damaging	Het
Gm6526	A	G	14: 43,986,303 (GRCm39)	I76M	probably damaging	Het
Gm9881	A	T	16: 90,967,623 (GRCm39)	F34I	unknown	Het
Gm9892	T	C	8: 52,649,649 (GRCm39)	D148G	possibly damaging	Het
Grb10	C	T	11: 11,884,249 (GRCm39)	V486I	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
H2bc18	G	T	3: 96,177,388 (GRCm39)	L107F	probably damaging	Het
Hdac4	T	C	1: 91,957,690 (GRCm39)	H108R	possibly damaging	Het
Hmcn1	G	A	1: 150,648,303 (GRCm39)	T661I	probably benign	Het
Icam1	T	A	9: 20,939,172 (GRCm39)	I515N	probably damaging	Het
Ifi208	A	G	1: 173,523,220 (GRCm39)	R497G	possibly damaging	Het
Igsf10	A	T	3: 59,226,188 (GRCm39)	V2495E	probably damaging	Het
Iqgap1	T	C	7: 80,383,759 (GRCm39)	M1102V	probably benign	Het
Itgb4	A	T	11: 115,874,873 (GRCm39)	N410I	probably benign	Het
Kif20b	T	A	19: 34,951,896 (GRCm39)	S1685T	possibly damaging	Het
Lins1	T	C	7: 66,361,794 (GRCm39)		probably null	Het
Lrig1	T	A	6: 94,584,294 (GRCm39)	T917S	probably benign	Het
Mast2	A	G	4: 116,169,152 (GRCm39)	S814P	probably damaging	Het
Mast4	T	C	13: 102,909,027 (GRCm39)	T483A	probably damaging	Het
Mcpt1	T	C	14: 56,256,990 (GRCm39)	M176T	probably benign	Het
Mettl22	A	G	16: 8,291,825 (GRCm39)	Q38R	probably damaging	Het
Mrm2	T	C	5: 140,314,443 (GRCm39)	T131A	probably benign	Het
Mtcl2	A	T	2: 156,862,368 (GRCm39)	Y1520*	probably null	Het
Nde1	T	G	16: 14,003,728 (GRCm39)	F71V	probably benign	Het
Nxn	C	T	11: 76,154,013 (GRCm39)	G274D	possibly damaging	Het
Or4c123	A	T	2: 89,127,250 (GRCm39)	Y121*	probably null	Het
Or5h17	A	T	16: 58,820,275 (GRCm39)	T76S	probably benign	Het
Or6k14	G	T	1: 173,927,315 (GRCm39)	C97F	probably damaging	Het
Or6p1	T	A	1: 174,258,209 (GRCm39)	W72R	probably damaging	Het
Osbp2	T	C	11: 3,667,175 (GRCm39)		probably null	Het
Otud7a	C	A	7: 63,404,377 (GRCm39)		probably benign	Het
Phf3	G	A	1: 30,845,021 (GRCm39)	L1313F	probably damaging	Het
Pkhd1	A	T	1: 20,593,207 (GRCm39)	D1635E	probably benign	Het
Plpp1	A	G	13: 112,996,198 (GRCm39)	H171R	probably damaging	Het
Pofut1	A	G	2: 153,103,166 (GRCm39)	M172V	probably damaging	Het
Prmt5	A	G	14: 54,746,372 (GRCm39)	F580L	probably damaging	Het
Rab11fip3	A	T	17: 26,210,296 (GRCm39)	L987Q	probably damaging	Het
Retnlb	T	A	16: 48,639,028 (GRCm39)	C76*	probably null	Het
Rnf38	T	C	4: 44,131,584 (GRCm39)	N399S	probably benign	Het
Sbk1	A	G	7: 125,891,424 (GRCm39)	E286G	possibly damaging	Het
Scin	T	A	12: 40,127,501 (GRCm39)	T430S	probably benign	Het
Sgsm1	T	A	5: 113,411,123 (GRCm39)	T868S	probably benign	Het
Sipa1l1	G	A	12: 82,387,885 (GRCm39)	R37H	probably damaging	Het
Smchd1	A	T	17: 71,668,832 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Stk32c	C	T	7: 138,705,095 (GRCm39)	R23Q	probably damaging	Het
Sult1d1	A	G	5: 87,712,598 (GRCm39)	M82T	probably benign	Het
Tat	T	C	8: 110,723,550 (GRCm39)	L346P	probably damaging	Het
Tenm3	C	A	8: 48,763,660 (GRCm39)	G789V	probably damaging	Het
Thsd7a	C	T	6: 12,338,621 (GRCm39)	S1203N	probably benign	Het
Tmem191	G	A	16: 17,095,826 (GRCm39)		probably null	Het
Tmem268	A	G	4: 63,498,575 (GRCm39)	T239A	probably damaging	Het
Tmem82	A	C	4: 141,343,589 (GRCm39)	L227R	possibly damaging	Het
Ttn	A	T	2: 76,557,376 (GRCm39)	I29906N	probably damaging	Het
Txndc15	T	C	13: 55,869,387 (GRCm39)		probably benign	Het
Ubqln4	A	G	3: 88,473,152 (GRCm39)	I536V	probably benign	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Vmn2r102	A	T	17: 19,914,843 (GRCm39)	I803F	probably benign	Het
Vmn2r6	G	T	3: 64,445,579 (GRCm39)	Y715*	probably null	Het
Vmn2r74	A	T	7: 85,610,618 (GRCm39)	C25S	probably damaging	Het
Wdr38	A	G	2: 38,890,991 (GRCm39)	T261A	probably benign	Het
Zfp653	T	C	9: 21,969,516 (GRCm39)	E250G	possibly damaging	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
IGL02030:Jup	APN	11	100,267,817 (GRCm39)	missense	probably damaging	0.96
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
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

Predicted Primers

PCR Primer
(F):5'- CCCCTACTAAATAAAGGTGTGACAGCC -3'
(R):5'- GCCCTTTTCTGGGTACTACACAACC -3'

Sequencing Primer
(F):5'- TTTCAGCCTTAGCCATGAAGGAG -3'
(R):5'- tgggaggcagaggcagg -3'

Posted On

2014-03-28