Mutagenetix > Incidental Mutation

Incidental Mutation 'R8232:Jcad'

637197

Institutional Source

Beutler Lab

Gene Symbol

Jcad

Ensembl Gene

ENSMUSG00000033960

Gene Name

junctional cadherin 5 associated

Synonyms

9430020K01Rik

MMRRC Submission

067664-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8232 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4634878-4682869 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 4674862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 875 (A875S)

Ref Sequence

ENSEMBL: ENSMUSP00000038613 (fasta)

Gene Model

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

AlphaFold

Q5DTX6

Predicted Effect

probably benign
Transcript: ENSMUST00000037029
AA Change: A875S

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038613
Gene: ENSMUSG00000033960
AA Change: A875S

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.5%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat1	A	T	4: 49,450,817 (GRCm39)	M98K	probably damaging	Het
Actn3	A	T	19: 4,921,683 (GRCm39)	W166R	probably damaging	Het
Adamts16	C	A	13: 70,941,217 (GRCm39)	C390F	probably damaging	Het
Arhgap32	A	T	9: 32,168,198 (GRCm39)	D727V	probably damaging	Het
Bcr	A	G	10: 75,001,883 (GRCm39)	Y929C	probably damaging	Het
Bmp1	T	A	14: 70,757,329 (GRCm39)	Y50F	probably damaging	Het
Camta2	G	A	11: 70,573,841 (GRCm39)	R171C	unknown	Het
Ccnd2	A	G	6: 127,127,549 (GRCm39)	L63P	probably damaging	Het
Clip1	G	C	5: 123,785,981 (GRCm39)	D234E	probably benign	Het
Dnah9	A	T	11: 65,746,149 (GRCm39)	I3988N	possibly damaging	Het
Frmpd2	T	G	14: 33,261,724 (GRCm39)	I843S	probably damaging	Het
Gcgr	A	G	11: 120,427,328 (GRCm39)	Y146C	probably damaging	Het
Gm5930	T	G	14: 44,573,181 (GRCm39)	K158T	probably damaging	Het
Gnl1	T	A	17: 36,298,487 (GRCm39)	C410*	probably null	Het
Gtf2h1	T	A	7: 46,451,103 (GRCm39)	I4K	probably benign	Het
Il12b	A	G	11: 44,299,401 (GRCm39)	S157G	possibly damaging	Het
Kcnrg	T	A	14: 61,845,386 (GRCm39)	M142K	probably benign	Het
Krtap4-6	A	C	11: 99,556,568 (GRCm39)	L53R	unknown	Het
Myo10	G	A	15: 25,804,400 (GRCm39)	G1565D	possibly damaging	Het
Nf1	A	G	11: 79,469,157 (GRCm39)	S806G	probably damaging	Het
Nlrp5	G	T	7: 23,116,770 (GRCm39)	V165L	probably benign	Het
Nppa	T	C	4: 148,085,795 (GRCm39)	I134T	possibly damaging	Het
Or4a72	A	T	2: 89,405,938 (GRCm39)	V44E	noncoding transcript	Het
Or51ai2	G	A	7: 103,586,980 (GRCm39)	R131Q	possibly damaging	Het
Or5b107	A	G	19: 13,142,683 (GRCm39)	M102V	probably benign	Het
Or5p68	A	T	7: 107,945,495 (GRCm39)	M231K	probably damaging	Het
Or6c202	C	A	10: 128,996,097 (GRCm39)	C252F	probably damaging	Het
Scyl2	A	T	10: 89,498,309 (GRCm39)	F167I	probably damaging	Het
Smarcal1	T	C	1: 72,665,722 (GRCm39)	L740S	probably damaging	Het
Tmem183a	T	A	1: 134,277,918 (GRCm39)	D282V	probably damaging	Het
Trhde	A	T	10: 114,636,442 (GRCm39)	V255E	possibly damaging	Het
Vmn1r229	T	A	17: 21,035,309 (GRCm39)	C185S	probably damaging	Het
Vmn2r58	A	T	7: 41,514,076 (GRCm39)	M189K	probably damaging	Het
Vps50	T	G	6: 3,600,139 (GRCm39)	V866G	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
R5563:Jcad	UTSW	18	4,673,944 (GRCm39)	missense	possibly damaging	0.93
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
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'- ACAACAGGCCAGTGCAATAG -3'
(R):5'- CATCTGCCCATTGGACTGGAAC -3'

Sequencing Primer
(F):5'- TCTTGAAACCAGTTAGCCGG -3'
(R):5'- ATTGGACTGGAACACCTCTG -3'

Posted On

2020-07-13