Mutagenetix > Incidental Mutation

Incidental Mutation 'R0426:Jup'

38667

Institutional Source

Beutler Lab

Gene Symbol

Jup

Ensembl Gene

ENSMUSG00000001552

Gene Name

junction plakoglobin

Synonyms

D930025P04Rik, gamma-catenin, plakoglobin, PG, Ctnng

MMRRC Submission

038628-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0426 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100259784-100288589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100263227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 716 (M716K)

Ref Sequence

ENSEMBL: ENSMUSP00000103026 (fasta)

Gene Model

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

AlphaFold

Q02257

Predicted Effect

probably benign
Transcript: ENSMUST00000001592
AA Change: M716K

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

SMART Domains

Protein: ENSMUSP00000001592
Gene: ENSMUSG00000001552
AA Change: M716K

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: M716K

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

SMART Domains

Protein: ENSMUSP00000103026
Gene: ENSMUSG00000001552
AA Change: M716K

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

Meta Mutation Damage Score

0.1351

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

96% (86/90)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,845,853 (GRCm39)		probably benign	Het
Acadl	A	T	1: 66,880,805 (GRCm39)	F320L	probably damaging	Het
Acsbg1	T	C	9: 54,530,030 (GRCm39)	D222G	probably benign	Het
Anapc15	A	G	7: 101,547,240 (GRCm39)	T39A	probably benign	Het
Ano3	A	T	2: 110,491,519 (GRCm39)	V919E	probably damaging	Het
Arhgef12	T	C	9: 42,882,286 (GRCm39)		probably null	Het
Atad5	T	A	11: 80,003,658 (GRCm39)	I1091N	probably benign	Het
Atf1	A	T	15: 100,130,708 (GRCm39)	H26L	possibly damaging	Het
Atp10a	T	C	7: 58,434,482 (GRCm39)	M252T	probably benign	Het
Btbd8	C	T	5: 107,658,239 (GRCm39)	T1603I	probably damaging	Het
Cd55	C	T	1: 130,376,109 (GRCm39)	R347H	probably benign	Het
Cdc27	A	C	11: 104,403,853 (GRCm39)		probably null	Het
Cdh9	G	A	15: 16,823,540 (GRCm39)		probably null	Het
Cdk11b	T	C	4: 155,726,969 (GRCm39)		probably benign	Het
Cep70	A	G	9: 99,179,737 (GRCm39)	D567G	probably benign	Het
Cep78	A	T	19: 15,948,334 (GRCm39)	Y382*	probably null	Het
Cgas	G	A	9: 78,343,020 (GRCm39)		probably benign	Het
Col9a2	T	C	4: 120,901,857 (GRCm39)		probably benign	Het
Cyp2d12	G	A	15: 82,443,164 (GRCm39)	D409N	probably benign	Het
Ddx39a	A	G	8: 84,448,398 (GRCm39)	T217A	probably benign	Het
Dennd1b	T	A	1: 139,097,934 (GRCm39)	D733E	probably benign	Het
Dicer1	A	G	12: 104,668,801 (GRCm39)	S1294P	probably damaging	Het
Dnah3	T	C	7: 119,542,795 (GRCm39)	E3539G	probably benign	Het
Dnmbp	A	G	19: 43,840,875 (GRCm39)		probably benign	Het
Dysf	T	C	6: 84,126,739 (GRCm39)	L1332P	probably damaging	Het
F5	A	G	1: 164,010,409 (GRCm39)	D380G	probably damaging	Het
Fam171a1	T	C	2: 3,226,433 (GRCm39)	V522A	probably benign	Het
Fhip1b	A	C	7: 105,038,680 (GRCm39)	C186W	probably damaging	Het
Galr2	C	A	11: 116,172,517 (GRCm39)	A69D	probably damaging	Het
Grk2	T	C	19: 4,340,628 (GRCm39)		probably null	Het
Gtf3c1	A	T	7: 125,262,188 (GRCm39)	Y1119*	probably null	Het
Hgd	A	T	16: 37,409,047 (GRCm39)		probably benign	Het
Ildr2	G	T	1: 166,136,468 (GRCm39)	V436L	probably benign	Het
Intu	G	A	3: 40,629,735 (GRCm39)	C355Y	probably damaging	Het
Irf2bpl	G	T	12: 86,929,870 (GRCm39)	P268T	probably benign	Het
Jarid2	T	C	13: 44,994,358 (GRCm39)		probably null	Het
Kank1	G	A	19: 25,388,837 (GRCm39)	V809I	probably damaging	Het
Kdm1b	T	A	13: 47,217,720 (GRCm39)		probably benign	Het
Kdm3a	C	T	6: 71,577,739 (GRCm39)	C687Y	probably damaging	Het
Kdm5d	T	A	Y: 942,437 (GRCm39)		probably benign	Het
Kifap3	T	A	1: 163,693,121 (GRCm39)		probably benign	Het
Macf1	T	A	4: 123,377,453 (GRCm39)	K1400*	probably null	Het
Majin	A	G	19: 6,262,147 (GRCm39)		probably benign	Het
Mctp1	A	G	13: 77,168,940 (GRCm39)	I846V	probably benign	Het
Mrgpra2b	T	A	7: 47,113,875 (GRCm39)	I286F	possibly damaging	Het
Neil3	T	G	8: 54,062,431 (GRCm39)		probably benign	Het
Nox3	G	T	17: 3,745,838 (GRCm39)	N23K	probably damaging	Het
Nt5c3	T	C	6: 56,860,797 (GRCm39)	K219E	probably benign	Het
Or1e29	T	A	11: 73,667,263 (GRCm39)	M297L	probably benign	Het
Or52b4i	T	A	7: 102,191,893 (GRCm39)	I250N	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or6b13	A	C	7: 139,782,029 (GRCm39)	F218C	possibly damaging	Het
Or6d13	A	T	6: 116,517,446 (GRCm39)	N11Y	probably damaging	Het
Or8g34	T	C	9: 39,372,889 (GRCm39)	L54P	probably damaging	Het
Pacsin2	A	G	15: 83,263,996 (GRCm39)	V347A	possibly damaging	Het
Pcdhb7	A	T	18: 37,475,857 (GRCm39)	E331V	probably damaging	Het
Pcid2	A	C	8: 13,131,262 (GRCm39)		probably null	Het
Pcsk9	T	C	4: 106,307,274 (GRCm39)	D323G	possibly damaging	Het
Pdhb	T	C	14: 8,169,801 (GRCm38)	E203G	probably damaging	Het
Phlpp2	A	G	8: 110,655,095 (GRCm39)	Y630C	probably benign	Het
Pidd1	C	T	7: 141,019,046 (GRCm39)	A812T	probably damaging	Het
Plau	G	A	14: 20,892,382 (GRCm39)	R389H	probably benign	Het
Plekhg6	G	A	6: 125,341,592 (GRCm39)		probably null	Het
Ppox	T	C	1: 171,105,322 (GRCm39)	Y321C	probably damaging	Het
Pxdn	A	G	12: 30,037,065 (GRCm39)	N281S	possibly damaging	Het
Pycr3	A	T	15: 75,790,237 (GRCm39)	M138K	probably benign	Het
Radil	T	C	5: 142,483,628 (GRCm39)	Y526C	probably damaging	Het
Ranbp3	C	A	17: 57,014,169 (GRCm39)	D233E	probably benign	Het
Rhpn1	A	G	15: 75,583,721 (GRCm39)	Q402R	possibly damaging	Het
Sec23b	T	A	2: 144,410,532 (GRCm39)		probably benign	Het
Sel1l2	A	T	2: 140,082,832 (GRCm39)	L602*	probably null	Het
Sema5b	G	A	16: 35,466,725 (GRCm39)	G209D	probably damaging	Het
Svep1	T	C	4: 58,073,333 (GRCm39)	Y1992C	possibly damaging	Het
Syncrip	T	A	9: 88,338,312 (GRCm39)		probably benign	Het
Synj1	G	T	16: 90,764,242 (GRCm39)	A65E	probably damaging	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tecrl	T	C	5: 83,502,610 (GRCm39)		probably benign	Het
Tenm4	G	T	7: 96,427,058 (GRCm39)	G698C	probably damaging	Het
Tmem209	G	A	6: 30,491,181 (GRCm39)	L259F	probably damaging	Het
Tmem247	G	A	17: 87,225,931 (GRCm39)	E124K	possibly damaging	Het
Tnks2	C	A	19: 36,830,221 (GRCm39)	A218E	probably damaging	Het
Tppp	T	A	13: 74,169,430 (GRCm39)	F57I	probably damaging	Het
Trim36	A	G	18: 46,305,592 (GRCm39)	W452R	probably damaging	Het
Vars2	A	T	17: 35,975,476 (GRCm39)	V262E	probably damaging	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Zfp516	G	T	18: 82,973,897 (GRCm39)	A32S	probably benign	Het
Zfy2	G	T	Y: 2,107,348 (GRCm39)	L429I	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
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

Predicted Primers

PCR Primer
(F):5'- AGTGGCAGTGTAACCATAGCAACAG -3'
(R):5'- AACGAACCCTATGCAGACGGTGAG -3'

Sequencing Primer
(F):5'- gggagggagagagagagag -3'
(R):5'- AAACTCCTGGTAGCCAGTGTG -3'

Posted On

2013-05-23