Mutagenetix > Incidental Mutation

Incidental Mutation 'R4720:Jcad'

354416

Institutional Source

Beutler Lab

Gene Symbol

Jcad

Ensembl Gene

ENSMUSG00000033960

Gene Name

junctional cadherin 5 associated

Synonyms

9430020K01Rik

MMRRC Submission

041958-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4720 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4634878-4682869 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4674055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 606 (V606I)

Ref Sequence

ENSEMBL: ENSMUSP00000038613 (fasta)

Gene Model

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

AlphaFold

Q5DTX6

Predicted Effect

probably benign
Transcript: ENSMUST00000037029
AA Change: V606I

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000038613
Gene: ENSMUSG00000033960
AA Change: V606I

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,018,248 (GRCm39)	I1124T	probably damaging	Het
Acacb	A	G	5: 114,367,975 (GRCm39)	T1658A	possibly damaging	Het
Acvrl1	C	A	15: 101,033,654 (GRCm39)	P112Q	probably damaging	Het
Ankar	A	T	1: 72,738,170 (GRCm39)	I4K	possibly damaging	Het
Ankfn1	G	C	11: 89,332,252 (GRCm39)	D431E	possibly damaging	Het
Apobec4	T	C	1: 152,632,425 (GRCm39)	V151A	possibly damaging	Het
Atp10b	A	G	11: 43,093,949 (GRCm39)	S498G	probably benign	Het
Azin1	A	G	15: 38,493,744 (GRCm39)	V293A	probably benign	Het
Ccdc88b	T	C	19: 6,835,083 (GRCm39)	E46G	probably damaging	Het
Ccdc96	T	C	5: 36,642,219 (GRCm39)		probably benign	Het
Ccnyl1	A	G	1: 64,752,290 (GRCm39)	D169G	probably benign	Het
Cdca3	T	A	6: 124,809,127 (GRCm39)	V89E	probably damaging	Het
Cdh19	A	T	1: 110,823,111 (GRCm39)		probably null	Het
Chka	G	A	19: 3,936,375 (GRCm39)	V238I	probably damaging	Het
Cntn3	T	C	6: 102,218,983 (GRCm39)	K546E	possibly damaging	Het
Crybg3	A	G	16: 59,360,180 (GRCm39)	V787A	probably damaging	Het
Dlgap3	T	C	4: 127,089,508 (GRCm39)		probably null	Het
Dnah8	C	T	17: 30,902,608 (GRCm39)	L889F	probably benign	Het
Dnah9	T	C	11: 65,967,184 (GRCm39)	E1658G	probably damaging	Het
Dnajc11	A	G	4: 152,052,996 (GRCm39)	D102G	probably damaging	Het
Dync1i2	T	G	2: 71,064,018 (GRCm39)	S121A	probably damaging	Het
Ece1	G	A	4: 137,684,486 (GRCm39)	E591K	probably damaging	Het
Enthd1	G	A	15: 80,444,510 (GRCm39)	S15L	probably damaging	Het
Epb41l2	T	A	10: 25,347,524 (GRCm39)	H372Q	probably damaging	Het
Errfi1	T	A	4: 150,951,204 (GRCm39)	Y211N	probably damaging	Het
Fam193b	G	A	13: 55,691,250 (GRCm39)	T208M	probably benign	Het
Flacc1	T	C	1: 58,717,507 (GRCm39)	I135V	possibly damaging	Het
Fmnl2	C	T	2: 52,997,552 (GRCm39)	T501M	possibly damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm4841	G	T	18: 60,403,135 (GRCm39)	D319E	probably benign	Het
Gucd1	A	G	10: 75,345,494 (GRCm39)	F187S	probably damaging	Het
Hcar2	GCGGATGCGCAC	GC	5: 124,002,752 (GRCm39)		probably null	Het
Helz2	T	C	2: 180,880,210 (GRCm39)	D502G	probably damaging	Het
Hspa2	A	G	12: 76,451,639 (GRCm39)	E111G	possibly damaging	Het
Htr2a	T	A	14: 74,882,499 (GRCm39)	S162T	probably damaging	Het
Ift80	A	G	3: 68,869,623 (GRCm39)	Y223H	possibly damaging	Het
Il1rl1	A	G	1: 40,485,838 (GRCm39)	K330E	probably benign	Het
Il23r	A	T	6: 67,400,645 (GRCm39)	F562I	probably damaging	Het
Isx	T	C	8: 75,600,487 (GRCm39)		probably null	Het
Kcnn2	A	T	18: 45,816,187 (GRCm39)	T333S	possibly damaging	Het
Kcnq5	C	T	1: 21,473,274 (GRCm39)	A630T	probably damaging	Het
Kif2c	T	C	4: 117,028,946 (GRCm39)	M188V	probably benign	Het
Kntc1	T	C	5: 123,903,086 (GRCm39)	V321A	possibly damaging	Het
Krtap4-8	A	T	11: 99,671,271 (GRCm39)		probably benign	Het
Lcor	G	C	19: 41,574,334 (GRCm39)	A1030P	probably benign	Het
Lgals3bp	A	C	11: 118,289,295 (GRCm39)	L52R	probably damaging	Het
Lipk	C	A	19: 33,999,099 (GRCm39)	H126Q	probably damaging	Het
Lpgat1	T	C	1: 191,495,779 (GRCm39)	Y323H	probably damaging	Het
Lrp2	T	G	2: 69,311,517 (GRCm39)	N2654H	probably damaging	Het
Lsm14b	C	T	2: 179,669,774 (GRCm39)	Q6*	probably null	Het
Lysmd3	C	T	13: 81,817,584 (GRCm39)	A187V	possibly damaging	Het
Map2k5	A	G	9: 63,201,001 (GRCm39)	S211P	probably damaging	Het
Mlph	A	T	1: 90,869,419 (GRCm39)	I474F	probably damaging	Het
Mpped2	T	C	2: 106,614,091 (GRCm39)	S142P	probably damaging	Het
Nemf	A	C	12: 69,371,062 (GRCm39)	M678R	probably benign	Het
Nfe2l1	A	T	11: 96,718,515 (GRCm39)	Y7N	probably damaging	Het
Nfkbie	T	G	17: 45,867,232 (GRCm39)	D122E	probably benign	Het
Noc3l	C	A	19: 38,778,066 (GRCm39)	A783S	probably benign	Het
Nol8	T	C	13: 49,816,229 (GRCm39)	V761A	probably damaging	Het
Nvl	A	G	1: 180,929,152 (GRCm39)	L743P	probably damaging	Het
Or1j1	T	A	2: 36,702,484 (GRCm39)	I207F	probably benign	Het
Plcb1	A	G	2: 135,093,667 (GRCm39)	K160R	possibly damaging	Het
Plekhg3	G	T	12: 76,625,096 (GRCm39)	G1313C	possibly damaging	Het
Plekhh1	GTCAAA	G	12: 79,122,194 (GRCm39)		probably null	Het
Popdc3	G	A	10: 45,191,002 (GRCm39)	V38I	probably benign	Het
Prdx3	A	T	19: 60,858,551 (GRCm39)	V114D	possibly damaging	Het
Prkdc	T	A	16: 15,485,579 (GRCm39)	S469T	probably benign	Het
Rbm22	G	A	18: 60,697,463 (GRCm39)	R56H	probably damaging	Het
Reln	A	T	5: 22,491,894 (GRCm39)	F113I	possibly damaging	Het
Rims1	A	G	1: 22,497,731 (GRCm39)	Y808H	probably damaging	Het
Rsbn1	C	A	3: 103,836,336 (GRCm39)	T458N	possibly damaging	Het
Serpina3b	A	G	12: 104,096,889 (GRCm39)	S57G	possibly damaging	Het
Skor2	G	T	18: 76,948,878 (GRCm39)		probably null	Het
Slc22a4	A	T	11: 53,879,719 (GRCm39)	Y447N	probably damaging	Het
Slco1a7	C	A	6: 141,668,948 (GRCm39)	A495S	probably damaging	Het
Stx19	G	T	16: 62,642,682 (GRCm39)	R166L	probably damaging	Het
Svep1	T	C	4: 58,205,869 (GRCm39)	T170A	possibly damaging	Het
Sycp2	T	G	2: 178,016,225 (GRCm39)	S746R	probably benign	Het
Tchh	G	T	3: 93,355,189 (GRCm39)	R1543L	unknown	Het
Tjp2	T	C	19: 24,078,169 (GRCm39)	D908G	probably damaging	Het
Ttc8	C	A	12: 98,946,068 (GRCm39)	A452E	possibly damaging	Het
Unc5a	T	A	13: 55,151,696 (GRCm39)	W709R	probably null	Het
Unc80	T	A	1: 66,549,951 (GRCm39)	S736R	possibly damaging	Het
Vmn2r100	C	A	17: 19,742,788 (GRCm39)	H387Q	probably benign	Het
Vmn2r39	C	T	7: 9,026,469 (GRCm39)		probably null	Het
Vmn2r88	T	A	14: 51,650,702 (GRCm39)	D138E	probably benign	Het
Vwce	T	C	19: 10,625,831 (GRCm39)	F448L	possibly damaging	Het
Wdr75	C	T	1: 45,861,645 (GRCm39)	S695F	probably benign	Het
Zfand4	T	C	6: 116,265,122 (GRCm39)		probably null	Het
Zfp511	T	A	7: 139,617,424 (GRCm39)		probably null	Het
Zfyve9	T	C	4: 108,501,565 (GRCm39)	K584E	possibly 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
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
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'- CTAATGTGACAGACATCAAGGCAG -3'
(R):5'- GGGGTCATCAATTTGGCCATC -3'

Sequencing Primer
(F):5'- CCACAGCCACAGAGTGAGG -3'
(R):5'- GGGTCATCAATTTGGCCATCTTCTG -3'

Posted On

2015-10-21