Mutagenetix > Incidental Mutation

Incidental Mutation 'R5563:Jcad'

436718

Institutional Source

Beutler Lab

Gene Symbol

Jcad

Ensembl Gene

ENSMUSG00000033960

Gene Name

junctional cadherin 5 associated

Synonyms

9430020K01Rik

MMRRC Submission

043120-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5563 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4634878-4682869 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4673944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 569 (K569E)

Ref Sequence

ENSEMBL: ENSMUSP00000038613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037029]

AlphaFold

Q5DTX6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037029
AA Change: K569E

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038613
Gene: ENSMUSG00000033960
AA Change: K569E

Domain	Start	End	E-Value	Type
Pfam:JCAD	1	1309	N/A	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	C	T	5: 100,960,040 (GRCm39)	R104H	possibly damaging	Het
Actn3	T	C	19: 4,922,344 (GRCm39)	H101R	probably damaging	Het
Akp3	T	C	1: 87,053,646 (GRCm39)	S174P	probably damaging	Het
Aldh5a1	C	A	13: 25,102,609 (GRCm39)	A285S	possibly damaging	Het
Atp7b	G	A	8: 22,518,730 (GRCm39)	P36L	possibly damaging	Het
Cdh20	C	T	1: 104,875,082 (GRCm39)	P288L	probably benign	Het
Fktn	T	A	4: 53,761,327 (GRCm39)	N481K	probably damaging	Het
Fmo5	C	A	3: 97,546,207 (GRCm39)	H173Q	probably damaging	Het
Fnip1	A	G	11: 54,395,688 (GRCm39)	R1021G	probably benign	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Grin2a	A	G	16: 9,525,581 (GRCm39)	F337L	probably benign	Het
Ighv3-1	T	A	12: 113,928,206 (GRCm39)	Y51F	probably benign	Het
Mars1	T	C	10: 127,144,530 (GRCm39)	Q170R	probably benign	Het
Mfsd4b2	C	T	10: 39,798,038 (GRCm39)	E106K	probably benign	Het
Mical2	A	G	7: 111,914,185 (GRCm39)	D285G	probably damaging	Het
Mpp4	A	G	1: 59,163,788 (GRCm39)		probably null	Het
Npat	A	G	9: 53,474,427 (GRCm39)	I740V	probably damaging	Het
Parp6	G	A	9: 59,535,956 (GRCm39)		probably null	Het
Plin2	T	C	4: 86,580,341 (GRCm39)	K140R	probably benign	Het
Prdm2	T	C	4: 142,861,200 (GRCm39)	T697A	probably benign	Het
Prkaa1	A	G	15: 5,199,437 (GRCm39)	E179G	probably damaging	Het
Prtg	G	A	9: 72,764,180 (GRCm39)	R551H	probably damaging	Het
Psd4	A	G	2: 24,284,897 (GRCm39)	R254G	probably benign	Het
Rhpn2	T	A	7: 35,070,652 (GRCm39)	L194H	probably damaging	Het
Sp7	T	C	15: 102,267,755 (GRCm39)	D17G	possibly damaging	Het
Topbp1	T	C	9: 103,188,712 (GRCm39)	V128A	possibly damaging	Het
Uba5	G	T	9: 103,926,446 (GRCm39)	T372K	probably benign	Het
Vmn2r13	T	A	5: 109,321,846 (GRCm39)	I284L	probably benign	Het
Vmn2r68	T	C	7: 84,871,283 (GRCm39)	T667A	probably damaging	Het

Other mutations in Jcad

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00650:Jcad	APN	18	4,675,692 (GRCm39)	missense	probably benign	0.14
IGL00672:Jcad	APN	18	4,674,835 (GRCm39)	missense	possibly damaging	0.77
IGL00782:Jcad	APN	18	4,675,073 (GRCm39)	missense	probably benign	0.00
IGL00825:Jcad	APN	18	4,673,516 (GRCm39)	missense	probably damaging	1.00
IGL01522:Jcad	APN	18	4,673,312 (GRCm39)	missense	probably damaging	0.97
IGL01796:Jcad	APN	18	4,672,855 (GRCm39)	nonsense	probably null
IGL01973:Jcad	APN	18	4,675,514 (GRCm39)	missense	probably benign	0.21
IGL02083:Jcad	APN	18	4,680,266 (GRCm39)	utr 3 prime	probably benign
IGL02625:Jcad	APN	18	4,674,422 (GRCm39)	missense	probably benign	0.03
IGL03002:Jcad	APN	18	4,675,153 (GRCm39)	missense	probably benign	0.00
IGL03325:Jcad	APN	18	4,673,902 (GRCm39)	missense	probably benign
R0304:Jcad	UTSW	18	4,673,325 (GRCm39)	missense	possibly damaging	0.75
R0487:Jcad	UTSW	18	4,673,243 (GRCm39)	missense	probably damaging	1.00
R0519:Jcad	UTSW	18	4,649,122 (GRCm39)	start gained	probably benign
R0664:Jcad	UTSW	18	4,676,063 (GRCm39)	missense	probably damaging	0.97
R1649:Jcad	UTSW	18	4,673,309 (GRCm39)	missense	probably damaging	1.00
R1710:Jcad	UTSW	18	4,674,511 (GRCm39)	missense	probably damaging	1.00
R1734:Jcad	UTSW	18	4,674,526 (GRCm39)	missense	probably damaging	1.00
R1823:Jcad	UTSW	18	4,675,780 (GRCm39)	missense	probably damaging	1.00
R1824:Jcad	UTSW	18	4,649,293 (GRCm39)	missense	probably benign
R1850:Jcad	UTSW	18	4,675,730 (GRCm39)	missense	possibly damaging	0.95
R1872:Jcad	UTSW	18	4,673,048 (GRCm39)	missense	probably benign
R1878:Jcad	UTSW	18	4,673,857 (GRCm39)	missense	possibly damaging	0.60
R1918:Jcad	UTSW	18	4,674,292 (GRCm39)	missense	probably damaging	1.00
R1967:Jcad	UTSW	18	4,675,162 (GRCm39)	missense	probably benign	0.07
R2420:Jcad	UTSW	18	4,675,952 (GRCm39)	missense	probably damaging	1.00
R2504:Jcad	UTSW	18	4,674,026 (GRCm39)	missense	probably damaging	0.99
R2936:Jcad	UTSW	18	4,675,153 (GRCm39)	missense	probably benign	0.00
R4420:Jcad	UTSW	18	4,676,032 (GRCm39)	missense	probably benign	0.00
R4668:Jcad	UTSW	18	4,680,221 (GRCm39)	splice site	probably null
R4670:Jcad	UTSW	18	4,674,175 (GRCm39)	missense	probably benign	0.03
R4671:Jcad	UTSW	18	4,674,175 (GRCm39)	missense	probably benign	0.03
R4707:Jcad	UTSW	18	4,649,338 (GRCm39)	nonsense	probably null
R4720:Jcad	UTSW	18	4,674,055 (GRCm39)	missense	probably benign	0.03
R4815:Jcad	UTSW	18	4,675,223 (GRCm39)	missense	possibly damaging	0.94
R4906:Jcad	UTSW	18	4,673,762 (GRCm39)	missense	probably damaging	1.00
R5214:Jcad	UTSW	18	4,674,134 (GRCm39)	missense	probably damaging	1.00
R5439:Jcad	UTSW	18	4,675,790 (GRCm39)	missense	probably damaging	1.00
R5721:Jcad	UTSW	18	4,676,044 (GRCm39)	missense	possibly damaging	0.48
R5825:Jcad	UTSW	18	4,674,896 (GRCm39)	missense	probably benign	0.00
R5952:Jcad	UTSW	18	4,674,554 (GRCm39)	missense	probably damaging	1.00
R6661:Jcad	UTSW	18	4,675,256 (GRCm39)	missense	probably damaging	1.00
R6928:Jcad	UTSW	18	4,673,372 (GRCm39)	missense	probably benign	0.00
R7426:Jcad	UTSW	18	4,675,529 (GRCm39)	missense	probably benign	0.11
R7808:Jcad	UTSW	18	4,673,113 (GRCm39)	missense	probably damaging	1.00
R7943:Jcad	UTSW	18	4,672,700 (GRCm39)	missense	probably damaging	1.00
R8010:Jcad	UTSW	18	4,674,581 (GRCm39)	missense	probably benign
R8080:Jcad	UTSW	18	4,649,270 (GRCm39)	missense	probably benign	0.01
R8133:Jcad	UTSW	18	4,649,384 (GRCm39)	missense	probably benign	0.03
R8168:Jcad	UTSW	18	4,675,094 (GRCm39)	missense	probably benign	0.00
R8232:Jcad	UTSW	18	4,674,862 (GRCm39)	missense	probably benign	0.23
R8276:Jcad	UTSW	18	4,674,318 (GRCm39)	missense	probably damaging	1.00
R8408:Jcad	UTSW	18	4,649,402 (GRCm39)	missense	possibly damaging	0.55
R9173:Jcad	UTSW	18	4,675,820 (GRCm39)	missense	probably benign	0.42
R9415:Jcad	UTSW	18	4,673,912 (GRCm39)	missense	probably damaging	1.00
R9571:Jcad	UTSW	18	4,673,252 (GRCm39)	nonsense	probably null
T0722:Jcad	UTSW	18	4,675,531 (GRCm39)	missense	probably benign	0.25
X0017:Jcad	UTSW	18	4,676,044 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCCTTCACCAGTCAATGAGC -3'
(R):5'- TGGAAGACATACTCAGCAGACTC -3'

Sequencing Primer
(F):5'- TTCACCAGTCAATGAGCAGAGC -3'
(R):5'- GCTAGCACAAGTGACTCA -3'

Posted On

2016-10-24