Mutagenetix > Incidental Mutation

Incidental Mutation 'R1448:Jup'

159068

Institutional Source

Beutler Lab

Gene Symbol

Jup

Ensembl Gene

ENSMUSG00000001552

Gene Name

junction plakoglobin

Synonyms

D930025P04Rik, gamma-catenin, plakoglobin, PG, Ctnng

MMRRC Submission

039503-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1448 (G1)

Quality Score

131

Status

Not validated

Chromosome

Chromosomal Location

100259784-100288589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100274026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 172 (K172E)

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: K172E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000001592
Gene: ENSMUSG00000001552
AA Change: K172E

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: K172E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103026
Gene: ENSMUSG00000001552
AA Change: K172E

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

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.6%
20x: 87.0%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417H12Rik	T	A	7: 107,223,952 (GRCm39)		probably benign	Het
A1cf	A	T	19: 31,886,196 (GRCm39)	N35I	possibly damaging	Het
Abca2	T	C	2: 25,330,542 (GRCm39)	I1106T	possibly damaging	Het
Abca4	G	A	3: 121,956,577 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,581,632 (GRCm39)	D4804G	probably benign	Het
Adk	T	A	14: 21,102,708 (GRCm39)	M1K	probably null	Het
Aff3	T	C	1: 38,230,364 (GRCm39)	N1006D	probably damaging	Het
Akap12	A	G	10: 4,305,475 (GRCm39)	T762A	probably benign	Het
Atosa	C	G	9: 74,917,456 (GRCm39)	S685*	probably null	Het
Atp12a	T	A	14: 56,623,296 (GRCm39)	M843K	probably damaging	Het
Bbx	T	A	16: 50,086,633 (GRCm39)	K169*	probably null	Het
Bicra	A	T	7: 15,722,284 (GRCm39)	V411E	possibly damaging	Het
Camk1d	A	T	2: 5,366,836 (GRCm39)	Y126*	probably null	Het
Cel	T	C	2: 28,446,338 (GRCm39)	Y511C	probably damaging	Het
Celf4	G	T	18: 25,636,140 (GRCm39)		probably null	Het
Clasp1	A	G	1: 118,436,646 (GRCm39)	N310S	probably benign	Het
Col6a3	T	C	1: 90,709,577 (GRCm39)	K1873R	unknown	Het
Cstf1	A	G	2: 172,217,795 (GRCm39)	D136G	probably damaging	Het
Cwc22	T	A	2: 77,741,899 (GRCm39)	E470D	probably damaging	Het
Cxcr2	A	T	1: 74,197,527 (GRCm39)	D7V	probably benign	Het
Cytip	A	G	2: 58,035,192 (GRCm39)	I168T	probably damaging	Het
D5Ertd579e	A	G	5: 36,760,083 (GRCm39)	L1359P	probably benign	Het
Ddx25	A	C	9: 35,469,034 (GRCm39)	V26G	probably benign	Het
Dennd4a	T	A	9: 64,813,327 (GRCm39)	S1429T	possibly damaging	Het
Dmd	A	G	X: 83,892,306 (GRCm39)	D2990G	probably damaging	Het
Dop1a	C	A	9: 86,424,785 (GRCm39)		probably null	Het
Eps8	T	C	6: 137,499,852 (GRCm39)	Q209R	possibly damaging	Het
Fabp6	T	A	11: 43,486,992 (GRCm39)	I112F	probably benign	Het
Fbxw10	T	C	11: 62,738,418 (GRCm39)	V104A	possibly damaging	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Grin3a	T	C	4: 49,702,804 (GRCm39)	Y894C	probably damaging	Het
Hydin	C	T	8: 111,173,217 (GRCm39)	H967Y	probably benign	Het
Ip6k3	T	C	17: 27,364,242 (GRCm39)	K269E	possibly damaging	Het
Katnal1	T	C	5: 148,841,486 (GRCm39)	D126G	probably benign	Het
Knl1	A	T	2: 118,898,788 (GRCm39)	K163M	probably damaging	Het
Krt17	C	T	11: 100,148,365 (GRCm39)	E359K	possibly damaging	Het
Lct	T	A	1: 128,235,559 (GRCm39)	I483F	probably damaging	Het
Loxl2	G	A	14: 69,930,489 (GRCm39)	G751D	probably damaging	Het
Ltbp4	G	A	7: 27,006,002 (GRCm39)	R1559C	possibly damaging	Het
Man2c1	T	A	9: 57,042,503 (GRCm39)	D183E	probably benign	Het
Med17	T	C	9: 15,187,139 (GRCm39)		probably null	Het
Mrgpra9	A	C	7: 46,885,561 (GRCm39)	S34R	probably benign	Het
Mrpl44	T	A	1: 79,755,677 (GRCm39)	N94K	probably damaging	Het
Nat8f1	A	G	6: 85,887,924 (GRCm39)	V12A	probably benign	Het
Nr2e3	C	A	9: 59,850,797 (GRCm39)	G354V	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nup155	T	C	15: 8,141,890 (GRCm39)	V94A	probably benign	Het
Or14a256	A	T	7: 86,265,569 (GRCm39)	C95S	probably damaging	Het
Or52h2	C	T	7: 103,839,082 (GRCm39)	V111I	possibly damaging	Het
Or5p76	T	C	7: 108,122,525 (GRCm39)	I211V	probably benign	Het
Or9q2	A	T	19: 13,772,140 (GRCm39)	Y278*	probably null	Het
Pcdhb10	A	T	18: 37,545,556 (GRCm39)	I211F	possibly damaging	Het
Phip	A	C	9: 82,797,476 (GRCm39)	I509S	possibly damaging	Het
Pkhd1	C	T	1: 20,655,381 (GRCm39)		probably null	Het
Psme4	T	G	11: 30,802,744 (GRCm39)	L1487R	probably damaging	Het
Ptgdr2	A	G	19: 10,917,857 (GRCm39)	S125G	probably damaging	Het
Ptpro	A	G	6: 137,418,114 (GRCm39)	K126E	probably damaging	Het
Rdh16f2	T	A	10: 127,712,794 (GRCm39)	V264E	probably benign	Het
Ric8b	C	T	10: 84,783,535 (GRCm39)	A131V	possibly damaging	Het
Rock1	A	T	18: 10,070,233 (GRCm39)	I1280N	probably damaging	Het
Rprd2	A	G	3: 95,725,888 (GRCm39)	V59A	possibly damaging	Het
Ruvbl1	T	A	6: 88,444,551 (GRCm39)	C49S	probably benign	Het
Scn2a	A	G	2: 65,514,189 (GRCm39)	N291S	probably benign	Het
Serbp1	T	A	6: 67,254,904 (GRCm39)	H325Q	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Shisal2b	T	C	13: 104,982,470 (GRCm39)	I151V	probably benign	Het
Slitrk3	G	A	3: 72,957,674 (GRCm39)	T366I	probably damaging	Het
Spryd3	A	T	15: 102,026,827 (GRCm39)	H307Q	possibly damaging	Het
Spx	A	T	6: 142,364,239 (GRCm39)	D100V	probably benign	Het
Surf4	A	G	2: 26,814,476 (GRCm39)	F142L	probably damaging	Het
Syne2	T	A	12: 76,067,099 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,098,952 (GRCm39)	M5278T	possibly damaging	Het
Thap12	T	C	7: 98,365,230 (GRCm39)	V466A	probably benign	Het
Thap3	T	C	4: 152,067,673 (GRCm39)	K135R	possibly damaging	Het
Tmem131	G	T	1: 36,866,439 (GRCm39)	D448E	probably benign	Het
Tmem63b	C	G	17: 45,989,904 (GRCm39)	R88P	possibly damaging	Het
Trim43a	G	T	9: 88,464,146 (GRCm39)	C19F	probably damaging	Het
Trp63	C	T	16: 25,707,870 (GRCm39)	P526L	possibly damaging	Het
Ubqln3	T	C	7: 103,791,997 (GRCm39)	D31G	probably damaging	Het
Utp14b	C	A	1: 78,643,162 (GRCm39)	N353K	probably damaging	Het
Vmn1r40	A	G	6: 89,691,558 (GRCm39)	K125R	probably damaging	Het
Vmn2r1	A	G	3: 64,008,734 (GRCm39)	Y471C	probably damaging	Het
Vmn2r13	A	G	5: 109,322,001 (GRCm39)	I232T	probably damaging	Het
Zfp263	A	C	16: 3,564,323 (GRCm39)	E204D	probably benign	Het
Zfp865	A	T	7: 5,032,278 (GRCm39)	K88*	probably null	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
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'- TGCAGCCGAGAAACAAGTACCTG -3'
(R):5'- ACCAAGCTGCTCAACGATGAGGAC -3'

Sequencing Primer
(F):5'- AAGTACCTGAGCATTCGGAC -3'
(R):5'- ATGAGGACCCGGTCTGTG -3'

Posted On

2014-03-14