Mutagenetix > Incidental Mutation

Incidental Mutation 'R4854:Jup'

373816

Institutional Source

Beutler Lab

Gene Symbol

Jup

Ensembl Gene

ENSMUSG00000001552

Gene Name

junction plakoglobin

Synonyms

D930025P04Rik, gamma-catenin, plakoglobin, PG, Ctnng

MMRRC Submission

042465-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4854 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

100259784-100288589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100273867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 225 (S225P)

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: S225P

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000001592
Gene: ENSMUSG00000001552
AA Change: S225P

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: S225P

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103026
Gene: ENSMUSG00000001552
AA Change: S225P

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

0.6695

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (103/105)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	T	A	9: 22,119,333 (GRCm39)		noncoding transcript	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abl1	T	C	2: 31,669,022 (GRCm39)	Y110H	probably damaging	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Agbl3	G	A	6: 34,762,219 (GRCm39)	R73Q	probably damaging	Het
Agl	C	T	3: 116,572,267 (GRCm39)		probably null	Het
Amotl1	G	A	9: 14,504,747 (GRCm39)	Q191*	probably null	Het
Apbb1ip	A	G	2: 22,743,214 (GRCm39)	K349E	possibly damaging	Het
Arhgap10	G	A	8: 78,146,718 (GRCm39)	Q229*	probably null	Het
Aspm	C	T	1: 139,405,810 (GRCm39)	Q1566*	probably null	Het
B3gnt3	G	A	8: 72,145,517 (GRCm39)	R284C	probably damaging	Het
Bltp3b	T	G	10: 89,630,346 (GRCm39)	V382G	probably damaging	Het
Brd4	A	G	17: 32,439,211 (GRCm39)	V423A	probably damaging	Het
Btbd9	A	T	17: 30,743,839 (GRCm39)	I221N	probably damaging	Het
Camp	A	G	9: 109,676,519 (GRCm39)	V168A	probably benign	Het
Cd1d2	T	A	3: 86,896,556 (GRCm39)		probably null	Het
Cdkn2d	A	T	9: 21,202,223 (GRCm39)	V8D	probably benign	Het
Cimap1a	A	G	7: 140,429,375 (GRCm39)	Y168C	probably damaging	Het
Clec4g	T	C	8: 3,766,534 (GRCm39)	N256D	probably damaging	Het
Clspn	A	G	4: 126,469,743 (GRCm39)	I771V	probably benign	Het
Cntn6	A	G	6: 104,836,436 (GRCm39)	E862G	possibly damaging	Het
Col6a5	T	C	9: 105,775,950 (GRCm39)	T1702A	probably benign	Het
Dnah7a	T	C	1: 53,745,888 (GRCm39)		probably benign	Het
Dubr	T	C	16: 50,552,886 (GRCm39)		noncoding transcript	Het
Dusp26	G	A	8: 31,584,165 (GRCm39)	V91M	probably damaging	Het
Edc4	A	T	8: 106,614,557 (GRCm39)		probably benign	Het
F5	C	T	1: 164,019,715 (GRCm39)	A730V	probably damaging	Het
Foxf1	A	G	8: 121,813,553 (GRCm39)	T358A	probably benign	Het
Frem1	A	T	4: 82,834,995 (GRCm39)	N1810K	possibly damaging	Het
Galc	A	T	12: 98,223,136 (GRCm39)	F87I	probably damaging	Het
Gars1	A	G	6: 55,023,403 (GRCm39)	D66G	probably damaging	Het
Gbp11	G	A	5: 105,473,374 (GRCm39)	L460F	probably damaging	Het
Gdf7	T	C	12: 8,348,014 (GRCm39)	I436V	probably damaging	Het
Gigyf2	C	T	1: 87,282,135 (GRCm39)		probably benign	Het
Gm12239	T	C	11: 55,906,779 (GRCm39)		noncoding transcript	Het
Gm5592	A	C	7: 40,866,895 (GRCm39)		probably benign	Het
Gp2	A	T	7: 119,051,422 (GRCm39)	D264E	possibly damaging	Het
Gphn	G	A	12: 78,673,984 (GRCm39)	V526M	probably damaging	Het
Grid1	A	G	14: 35,043,598 (GRCm39)	I318V	probably benign	Het
Grm2	C	A	9: 106,531,331 (GRCm39)	V53F	possibly damaging	Het
Gtpbp1	T	C	15: 79,603,406 (GRCm39)	S632P	probably benign	Het
H2-M1	A	G	17: 36,980,950 (GRCm39)	F329L	probably benign	Het
Hecw1	T	A	13: 14,491,477 (GRCm39)	D92V	probably benign	Het
Hgh1	T	C	15: 76,253,382 (GRCm39)	L76P	probably damaging	Het
Idi2	C	A	13: 9,007,879 (GRCm39)	N63K	probably benign	Het
Ift122	A	G	6: 115,839,707 (GRCm39)	T25A	possibly damaging	Het
Itgb2l	A	T	16: 96,227,317 (GRCm39)	C575*	probably null	Het
Kcng3	A	T	17: 83,895,735 (GRCm39)	C244S	probably damaging	Het
Klhl2	T	A	8: 65,287,111 (GRCm39)	M46L	possibly damaging	Het
Ksr1	A	T	11: 78,918,528 (GRCm39)	I460N	probably damaging	Het
Lama3	T	A	18: 12,544,599 (GRCm39)	F314Y	probably benign	Het
Lbp	T	C	2: 158,169,438 (GRCm39)	V421A	possibly damaging	Het
Lcp1	G	A	14: 75,437,929 (GRCm39)	G113D	probably damaging	Het
Lrp1b	A	T	2: 41,001,089 (GRCm39)	L2045H	probably damaging	Het
Mbd2	G	T	18: 70,701,806 (GRCm39)	D107Y	unknown	Het
Ms4a14	C	T	19: 11,287,733 (GRCm39)	V96I	possibly damaging	Het
N4bp2l2	C	T	5: 150,585,516 (GRCm39)	E155K	probably benign	Het
Nbeal2	T	G	9: 110,460,464 (GRCm39)	H1790P	probably damaging	Het
Nsg2	G	A	11: 31,981,806 (GRCm39)	G84R	probably benign	Het
Or10ad1b	A	C	15: 98,125,425 (GRCm39)	F34V	possibly damaging	Het
Or12e10	A	G	2: 87,640,934 (GRCm39)	T257A	probably damaging	Het
P2rx2	T	C	5: 110,488,793 (GRCm39)	N224D	probably damaging	Het
P2rx5	A	T	11: 73,062,605 (GRCm39)	E438V	probably benign	Het
Paip1	C	A	13: 119,586,425 (GRCm39)		probably benign	Het
Pik3c2g	T	A	6: 139,714,505 (GRCm39)	V219E	probably damaging	Het
Ppp1r12b	T	C	1: 134,801,689 (GRCm39)	E509G	probably damaging	Het
Ppp1r15a	T	C	7: 45,174,797 (GRCm39)	S4G	probably benign	Het
Ppp5c	T	C	7: 16,742,947 (GRCm39)	S224G	probably benign	Het
Prr30	T	G	14: 101,435,879 (GRCm39)	I228L	probably benign	Het
Purg	A	G	8: 33,877,342 (GRCm39)	I327V	possibly damaging	Het
Ralb	T	C	1: 119,403,645 (GRCm39)	T161A	probably benign	Het
Ripor3	T	C	2: 167,834,733 (GRCm39)	R253G	probably benign	Het
Scgb2b6	T	C	7: 31,317,257 (GRCm39)		noncoding transcript	Het
Setd5	G	T	6: 113,128,360 (GRCm39)	G1438W	probably damaging	Het
Sh3rf3	T	A	10: 58,649,545 (GRCm39)	L50Q	possibly damaging	Het
Sipa1l2	G	T	8: 126,200,340 (GRCm39)	T662K	probably damaging	Het
Skint5	A	G	4: 113,437,725 (GRCm39)	L1021S	unknown	Het
Slc22a23	T	C	13: 34,387,924 (GRCm39)	S391G	probably benign	Het
Slc4a5	G	A	6: 83,247,999 (GRCm39)	V402I	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Spink5	A	T	18: 44,153,908 (GRCm39)	*1018C	probably null	Het
Stag3	T	A	5: 138,294,956 (GRCm39)		probably null	Het
Tmem117	T	C	15: 94,992,569 (GRCm39)	F410L	probably damaging	Het
Tmod1	A	G	4: 46,090,920 (GRCm39)	K158E	possibly damaging	Het
Tpsb2	GGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTG	17: 25,585,536 (GRCm39)		probably benign	Het
Traf4	G	A	11: 78,052,346 (GRCm39)	Q100*	probably null	Het
Trpc4	A	G	3: 54,209,639 (GRCm39)	Y668C	probably damaging	Het
Ttn	T	A	2: 76,597,927 (GRCm39)	N11335I	possibly damaging	Het
Usp39	A	T	6: 72,302,665 (GRCm39)	V463E	probably benign	Het
Vmn1r6	A	C	6: 56,979,683 (GRCm39)	Y115S	probably benign	Het
Vmn2r44	A	G	7: 8,383,300 (GRCm39)	I98T	possibly damaging	Het
Zfp462	A	G	4: 55,010,668 (GRCm39)	Y878C	probably damaging	Het
Zfp474	T	C	18: 52,771,503 (GRCm39)	I52T	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
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
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'- AGAGTTGTCAAAGCTCCACCC -3'
(R):5'- CTCACACACTTCCTCCAGGTAG -3'

Sequencing Primer
(F):5'- CCCAGAGTTGTCAAAGCTCTG -3'
(R):5'- ATGATCGTGAACCAGCTGTC -3'

Posted On

2016-03-01