Mutagenetix > Incidental Mutations

Incidental Mutation 'R2936:Jcad'

255033

Institutional Source

Beutler Lab

Gene Symbol

Jcad

Ensembl Gene

ENSMUSG00000033960

Gene Name

junctional cadherin 5 associated

Synonyms

9430020K01Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2936 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4634929-4682868 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4675153 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 972 (Y972N)

Ref Sequence

ENSEMBL: ENSMUSP00000038613 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000037029
AA Change: Y972N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000038613
Gene: ENSMUSG00000033960
AA Change: Y972N

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	A	T	18: 70,468,448	M121K	probably damaging	Het
Cacybp	A	T	1: 160,208,377		probably null	Het
Cd6	T	C	19: 10,796,322		probably null	Het
Cep162	T	C	9: 87,227,414	T379A	probably benign	Het
Gaa	T	C	11: 119,283,724	V799A	probably benign	Het
Gm16503	A	G	4: 147,541,247	D66G	unknown	Het
Hspa9	T	C	18: 34,948,014	T205A	probably damaging	Het
Ihh	A	G	1: 74,946,546	I260T	probably damaging	Het
Magi2	A	AG	5: 20,602,461		probably null	Het
Mmp12	A	G	9: 7,357,819	Q341R	probably benign	Het
Nup155	T	C	15: 8,143,049	S840P	possibly damaging	Het
Olfr724	A	T	14: 49,960,154	V306E	probably benign	Het
Papd7	G	A	13: 69,502,327	T621I	possibly damaging	Het
Pde4b	C	T	4: 102,601,545	A466V	probably damaging	Het
Pde5a	A	G	3: 122,794,319	E378G	probably damaging	Het
Rad54l	T	C	4: 116,122,879		probably benign	Het
Stbd1	C	T	5: 92,603,260	P51L	possibly damaging	Het
Tnfaip3	A	G	10: 19,011,609	F56S	probably damaging	Het
Tnr	A	C	1: 159,888,362	Y898S	probably damaging	Het
Trav6n-6	A	G	14: 53,132,884	T31A	probably benign	Het

Other mutations in Jcad

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00650:Jcad	APN	18	4675692	missense	probably benign	0.14
IGL00672:Jcad	APN	18	4674835	missense	possibly damaging	0.77
IGL00782:Jcad	APN	18	4675073	missense	probably benign	0.00
IGL00825:Jcad	APN	18	4673516	missense	probably damaging	1.00
IGL01522:Jcad	APN	18	4673312	missense	probably damaging	0.97
IGL01796:Jcad	APN	18	4672855	nonsense	probably null
IGL01973:Jcad	APN	18	4675514	missense	probably benign	0.21
IGL02083:Jcad	APN	18	4680266	utr 3 prime	probably benign
IGL02625:Jcad	APN	18	4674422	missense	probably benign	0.03
IGL03002:Jcad	APN	18	4675153	missense	probably benign	0.00
IGL03325:Jcad	APN	18	4673902	missense	probably benign
R0304:Jcad	UTSW	18	4673325	missense	possibly damaging	0.75
R0487:Jcad	UTSW	18	4673243	missense	probably damaging	1.00
R0519:Jcad	UTSW	18	4649122	start gained	probably benign
R0664:Jcad	UTSW	18	4676063	missense	probably damaging	0.97
R1649:Jcad	UTSW	18	4673309	missense	probably damaging	1.00
R1710:Jcad	UTSW	18	4674511	missense	probably damaging	1.00
R1734:Jcad	UTSW	18	4674526	missense	probably damaging	1.00
R1823:Jcad	UTSW	18	4675780	missense	probably damaging	1.00
R1824:Jcad	UTSW	18	4649293	missense	probably benign
R1850:Jcad	UTSW	18	4675730	missense	possibly damaging	0.95
R1872:Jcad	UTSW	18	4673048	missense	probably benign
R1878:Jcad	UTSW	18	4673857	missense	possibly damaging	0.60
R1918:Jcad	UTSW	18	4674292	missense	probably damaging	1.00
R1967:Jcad	UTSW	18	4675162	missense	probably benign	0.07
R2420:Jcad	UTSW	18	4675952	missense	probably damaging	1.00
R2504:Jcad	UTSW	18	4674026	missense	probably damaging	0.99
R4420:Jcad	UTSW	18	4676032	missense	probably benign	0.00
R4668:Jcad	UTSW	18	4680221	splice site	probably null
R4670:Jcad	UTSW	18	4674175	missense	probably benign	0.03
R4671:Jcad	UTSW	18	4674175	missense	probably benign	0.03
R4707:Jcad	UTSW	18	4649338	nonsense	probably null
R4720:Jcad	UTSW	18	4674055	missense	probably benign	0.03
R4815:Jcad	UTSW	18	4675223	missense	possibly damaging	0.94
R4906:Jcad	UTSW	18	4673762	missense	probably damaging	1.00
R5214:Jcad	UTSW	18	4674134	missense	probably damaging	1.00
R5439:Jcad	UTSW	18	4675790	missense	probably damaging	1.00
R5563:Jcad	UTSW	18	4673944	missense	possibly damaging	0.93
R5721:Jcad	UTSW	18	4676044	missense	possibly damaging	0.48
R5825:Jcad	UTSW	18	4674896	missense	probably benign	0.00
R5952:Jcad	UTSW	18	4674554	missense	probably damaging	1.00
R6661:Jcad	UTSW	18	4675256	missense	probably damaging	1.00
R6928:Jcad	UTSW	18	4673372	missense	probably benign	0.00
R7426:Jcad	UTSW	18	4675529	missense	probably benign	0.11
R7808:Jcad	UTSW	18	4673113	missense	probably damaging	1.00
T0722:Jcad	UTSW	18	4675531	missense	probably benign	0.25
X0017:Jcad	UTSW	18	4676044	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAGTGTCCATCCACAGTCCC -3'
(R):5'- TTCTTGTCCCAGTGTGAGC -3'

Sequencing Primer
(F):5'- ATCCACAGTCCCTGGGC -3'
(R):5'- TGTCCCAGTGTGAGCTCTAAAGAC -3'

Posted On

2014-12-29