Mutagenetix > Incidental Mutation

Incidental Mutation 'R8010:Jcad'

616880

Institutional Source

Beutler Lab

Gene Symbol

Jcad

Ensembl Gene

ENSMUSG00000033960

Gene Name

junctional cadherin 5 associated

Synonyms

9430020K01Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8010 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4634929-4682868 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4674581 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 781 (D781G)

Ref Sequence

ENSEMBL: ENSMUSP00000038613 (fasta)

Gene Model

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

AlphaFold

Q5DTX6

Predicted Effect

probably benign
Transcript: ENSMUST00000037029
AA Change: D781G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038613
Gene: ENSMUSG00000033960
AA Change: D781G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,580,340	H130L	probably benign	Het
Abca1	A	G	4: 53,127,600	S140P	probably benign	Het
AI314180	T	A	4: 58,832,681	Q893L	unknown	Het
Aoc1	T	C	6: 48,905,648	Y153H	probably benign	Het
Arhgdib	A	G	6: 136,926,722	I118T	probably damaging	Het
Atp1a3	T	A	7: 24,980,645	E865V	possibly damaging	Het
Atrnl1	T	C	19: 57,682,446	V587A	probably benign	Het
C130026I21Rik	G	A	1: 85,246,950	S288L	possibly damaging	Het
Ccdc107	G	T	4: 43,495,768	E199*	probably null	Het
Cd55	A	T	1: 130,459,616	D148E	probably benign	Het
Cdc42ep1	C	T	15: 78,847,799	T148I	possibly damaging	Het
Cep164	A	T	9: 45,823,671	D19E	unknown	Het
Chsy3	A	G	18: 59,410,154	Y788C	probably damaging	Het
Cttnbp2	G	C	6: 18,426,093	A762G	possibly damaging	Het
Cubn	A	G	2: 13,336,086		probably null	Het
Ddr1	T	A	17: 35,691,492	M175L	possibly damaging	Het
Dicer1	C	A	12: 104,692,132	K1850N	probably damaging	Het
Dnajc6	C	T	4: 101,618,414	R495C	probably benign	Het
Fbxo18	A	T	2: 11,767,632	N79K	probably benign	Het
Frmpd1	T	A	4: 45,284,272	V1031D	possibly damaging	Het
Gm7298	A	G	6: 121,735,583	E118G	probably benign	Het
Hnrnpll	T	C	17: 80,061,956	T13A	unknown	Het
Kitl	A	T	10: 100,051,903	T25S	probably benign	Het
Krt5	T	C	15: 101,712,356	D152G	probably damaging	Het
Krtap5-5	T	C	7: 142,229,911	M1V	probably null	Het
Ktn1	C	T	14: 47,705,773	T862I	possibly damaging	Het
Mapk4	A	T	18: 73,930,576	I525N	probably benign	Het
Megf6	T	C	4: 154,270,507	F1457S	probably benign	Het
Mrm3	A	T	11: 76,250,347	S394C	probably damaging	Het
Mtmr4	T	G	11: 87,598,864	V71G	probably damaging	Het
Nek8	T	C	11: 78,176,596	Y4C	probably damaging	Het
Olfr203	T	C	16: 59,303,504	M117T	probably damaging	Het
Olfr309	T	A	7: 86,307,052	E20D	probably benign	Het
Olfr849	A	T	9: 19,441,692	I260L	probably benign	Het
Pla2r1	T	C	2: 60,514,960	T351A	probably benign	Het
Plcb4	C	T	2: 135,907,560	T49M	probably benign	Het
Psg20	T	C	7: 18,681,067	D301G	probably benign	Het
Ptpn13	C	T	5: 103,559,937	Q1455*	probably null	Het
Rbbp8	A	T	18: 11,722,233	N505I	possibly damaging	Het
Rgs18	A	G	1: 144,756,000	C125R	probably benign	Het
Rpap2	G	A	5: 107,603,605	C105Y	probably damaging	Het
Scn10a	C	T	9: 119,661,167	G570R	possibly damaging	Het
Sell	C	T	1: 164,065,512	T99I	possibly damaging	Het
Slc14a1	A	T	18: 78,116,489	M63K	probably benign	Het
Syne2	A	T	12: 75,930,738	D1319V	probably benign	Het
Tdp2	C	T	13: 24,836,027	T99I	probably damaging	Het
Tet3	A	T	6: 83,403,246	S647T	unknown	Het
Tpd52l1	T	G	10: 31,358,013	D48A	possibly damaging	Het
Ttll10	T	C	4: 156,047,161	D169G	probably damaging	Het
Wars2	C	A	3: 99,216,830	L336I	probably benign	Het
Wdfy4	C	A	14: 32,971,627	W2906L		Het
Xdh	A	T	17: 73,909,317	Y711*	probably null	Het
Xirp1	T	A	9: 120,017,824	R664S	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
R2936:Jcad	UTSW	18	4675153	missense	probably benign	0.00
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
R7943:Jcad	UTSW	18	4672700	missense	probably damaging	1.00
R8080:Jcad	UTSW	18	4649270	missense	probably benign	0.01
R8133:Jcad	UTSW	18	4649384	missense	probably benign	0.03
R8168:Jcad	UTSW	18	4675094	missense	probably benign	0.00
R8232:Jcad	UTSW	18	4674862	missense	probably benign	0.23
R8276:Jcad	UTSW	18	4674318	missense	probably damaging	1.00
R8408:Jcad	UTSW	18	4649402	missense	possibly damaging	0.55
R9173:Jcad	UTSW	18	4675820	missense	probably benign	0.42
R9415:Jcad	UTSW	18	4673912	missense	probably damaging	1.00
R9571:Jcad	UTSW	18	4673252	nonsense	probably null
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'- TACCACTGCCTCCGAAGTATG -3'
(R):5'- ACAGTCCTCTGGCTGTTCTG -3'

Sequencing Primer
(F):5'- ATGCCTCCATACAGCCTTAGC -3'
(R):5'- ACCACTACCACCATGGCTTTC -3'

Posted On

2020-01-23