Mutagenetix > Incidental Mutations

Incidental Mutation 'R7399:Jup'

574047

Institutional Source

Beutler Lab

Gene Symbol

Jup

Ensembl Gene

ENSMUSG00000001552

Gene Name

junction plakoglobin

Synonyms

PG, gamma-catenin, Ctnng, plakoglobin, D930025P04Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7399 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100368958-100397763 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 100378351 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 412 (T412K)

Ref Sequence

ENSEMBL: ENSMUSP00000001592 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001592
AA Change: T412K

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000001592
Gene: ENSMUSG00000001552
AA Change: T412K

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: T412K

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103026
Gene: ENSMUSG00000001552
AA Change: T412K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (74/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,260,679	V801G	possibly damaging	Het
Actbl2	T	A	13: 111,255,593	M154K	probably benign	Het
Adam7	A	T	14: 68,504,466		probably null	Het
Arfgef1	T	A	1: 10,180,897	T888S	probably benign	Het
AW554918	C	T	18: 25,169,060	P10L	possibly damaging	Het
Bcap29	A	G	12: 31,630,882	I35T	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857		probably null	Het
C87499	C	A	4: 88,627,965	R380L	probably benign	Het
Cdc25b	A	G	2: 131,194,654	D458G	probably damaging	Het
Cdc42bpb	T	C	12: 111,305,667	K1104R	probably benign	Het
Cep89	A	G	7: 35,438,378	N729S	probably damaging	Het
Clec4a4	T	A	6: 122,991,829	M51K	possibly damaging	Het
Dcdc2b	A	G	4: 129,609,629	L270P	probably damaging	Het
Dennd5b	G	T	6: 149,036,483	H639N	probably damaging	Het
Dnah11	T	C	12: 118,125,785	E1182G	probably damaging	Het
Dnah11	T	G	12: 118,027,477	T2385P	probably benign	Het
Dok7	T	C	5: 35,066,471	V81A	probably damaging	Het
Dtx1	T	A	5: 120,682,393	M494L	possibly damaging	Het
Foxj1	A	T	11: 116,332,254	L241Q	possibly damaging	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Hnmt	T	A	2: 24,003,880	T201S	probably benign	Het
Kcnh2	G	A	5: 24,322,059	S954F	probably damaging	Het
Klhdc7b	A	C	15: 89,388,644	K585T	possibly damaging	Het
Klk7	T	A	7: 43,812,000	S14T	probably benign	Het
Lama4	G	A	10: 39,047,948	E451K	probably damaging	Het
Ldhb	A	G	6: 142,495,673	C164R	probably damaging	Het
Malrd1	G	A	2: 15,610,090	D239N		Het
Mgam	T	A	6: 40,666,854	V572E	probably damaging	Het
Mrgprb2	G	T	7: 48,552,142	N278K	probably damaging	Het
Msto1	A	G	3: 88,911,823	Y206H	probably damaging	Het
Myo6	A	G	9: 80,262,291	S467G	unknown	Het
Mysm1	T	A	4: 94,961,727	I447L	probably benign	Het
Nav3	T	C	10: 109,852,934	E494G	possibly damaging	Het
Nol10	T	G	12: 17,402,173	V376G	probably damaging	Het
Nup205	T	A	6: 35,214,676	I1032N	probably damaging	Het
Olfr1002	T	A	2: 85,647,424	D299V	possibly damaging	Het
Olfr1100	G	A	2: 86,978,157	T213I	probably benign	Het
Olfr1170	A	T	2: 88,225,022	Y3*	probably null	Het
Olfr1450	A	G	19: 12,954,447	N286S	probably damaging	Het
Olfr449	T	G	6: 42,838,746	Y288*	probably null	Het
Olfr455	A	G	6: 42,538,728	F98S	possibly damaging	Het
Olfr617	A	T	7: 103,584,381	I120L	possibly damaging	Het
Olfr782	A	T	10: 129,350,557		probably benign	Het
Olfr996	A	G	2: 85,579,296	D19G	probably benign	Het
Oog2	A	G	4: 144,195,281	K254E	probably benign	Het
Osbpl11	T	A	16: 33,236,279	D694E	probably benign	Het
Pcm1	T	A	8: 41,293,510	Y1210N	probably benign	Het
Pdxk	T	C	10: 78,440,863	M293V	probably benign	Het
Plcb3	T	C	19: 6,962,867	I451V	probably benign	Het
Plekhm2	A	G	4: 141,634,376	F272S	probably damaging	Het
Ptgdr	A	T	14: 44,858,232		probably null	Het
Ptprf	C	T	4: 118,226,523	V788I	probably benign	Het
Ralbp1	C	T	17: 65,854,148	V467I	probably benign	Het
Ralgds	A	C	2: 28,543,655	Q229P	possibly damaging	Het
Recql	T	C	6: 142,374,884	D146G	probably damaging	Het
Reln	T	C	5: 22,051,367	N493S	probably damaging	Het
Rfxank	C	T	8: 70,135,286		probably null	Het
Scn5a	A	T	9: 119,486,530	M1704K	probably damaging	Het
Slc7a7	G	T	14: 54,374,268	A316E	possibly damaging	Het
Slco1a6	A	T	6: 142,091,068	C538S	probably benign	Het
Spert	A	G	14: 75,592,637	S39P	probably benign	Het
Stard6	T	C	18: 70,498,647		probably null	Het
Strip2	T	A	6: 29,927,613	M219K	possibly damaging	Het
Tcam1	T	C	11: 106,284,085	V122A	probably damaging	Het
Tha1	A	G	11: 117,869,690	V236A	possibly damaging	Het
Tmem201	A	T	4: 149,731,097	I132N	possibly damaging	Het
Tnc	T	C	4: 64,020,657		probably benign	Het
Vmn1r42	T	C	6: 89,845,513	T25A	probably benign	Het
Vmn2r94	T	A	17: 18,244,503		probably null	Het
Wdfy4	A	C	14: 33,068,906	V2188G		Het
Zfp623	T	C	15: 75,947,398	S68P	probably damaging	Het
Zfp950	A	T	19: 61,119,155	C497S	probably damaging	Het
Zkscan2	C	T	7: 123,480,104	E877K	probably damaging	Het
Zp3r	C	A	1: 130,577,053	V536L	probably damaging	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
R1875:Jup	UTSW	11	100372294	splice site	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
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'- GATTCCATAGTTGAGGCGCAC -3'
(R):5'- GCTAGATACAAGCAAGCCCTAG -3'

Sequencing Primer
(F):5'- AGAGTTCTGGGCCATCTCAG -3'
(R):5'- AGCAAGCCCTAGCCCTTCG -3'

Posted On

2019-09-13