Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00568:Jam2'

29118

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jam2

Ensembl Gene

ENSMUSG00000053062

Gene Name

junction adhesion molecule 2

Synonyms

JAM-2, 2410030G21Rik, Jcam2, 2410167M24Rik, VE-JAM

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00568

Quality Score

Status

Chromosome

Chromosomal Location

84571011-84622816 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 84619712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156235 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114195] [ENSMUST00000231910]

AlphaFold

Q9JI59

Predicted Effect

probably benign
Transcript: ENSMUST00000114195

SMART Domains

Protein: ENSMUSP00000109833
Gene: ENSMUSG00000053062

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IG	36	132	7.7e-5	SMART
IGc2	147	221	1.06e-11	SMART
low complexity region	240	253	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157624

Predicted Effect

probably benign
Transcript: ENSMUST00000231910

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the immunoglobulin superfamily, and the junctional adhesion molecule (JAM) family. The protein encoded by this gene is a type I membrane protein that is localized at the tight junctions of both epithelial and endothelial cells. It acts as an adhesive ligand for interacting with a variety of immune cell types, and may play a role in lymphocyte homing to secondary lymphoid organs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and overtly normal with no detectable spermatogenesis abnormalities or defects in embryonic, neural and hematopoietic stem cell properties. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cckar	T	A	5: 53,864,643 (GRCm39)	E19D	probably benign	Het
Col12a1	A	G	9: 79,558,759 (GRCm39)	L1902P	probably damaging	Het
Krt72	T	C	15: 101,689,450 (GRCm39)	D294G	probably damaging	Het
Lancl2	T	C	6: 57,700,470 (GRCm39)		probably benign	Het
Mpz	A	G	1: 170,987,571 (GRCm39)	K236E	possibly damaging	Het
Ndufs4	A	T	13: 114,444,406 (GRCm39)	M124K	probably null	Het
Ovch2	C	A	7: 107,388,297 (GRCm39)	D428Y	probably null	Het
Pcna-ps2	C	A	19: 9,261,290 (GRCm39)	S183*	probably null	Het
Pgbd1	A	C	13: 21,607,423 (GRCm39)	L257*	probably null	Het
Tlr12	G	A	4: 128,511,215 (GRCm39)	T345M	probably benign	Het
Tnrc18	T	C	5: 142,748,792 (GRCm39)	N1300D	unknown	Het

Other mutations in Jam2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00805:Jam2	APN	16	84,612,054 (GRCm39)	splice site	probably benign
R0834:Jam2	UTSW	16	84,609,855 (GRCm39)	missense	probably damaging	1.00
R1188:Jam2	UTSW	16	84,603,755 (GRCm39)	missense	probably damaging	0.99
R4230:Jam2	UTSW	16	84,618,180 (GRCm39)	missense	possibly damaging	0.92
R4323:Jam2	UTSW	16	84,619,744 (GRCm39)	utr 3 prime	probably benign
R4659:Jam2	UTSW	16	84,609,840 (GRCm39)	missense	probably damaging	0.96
R4660:Jam2	UTSW	16	84,609,840 (GRCm39)	missense	probably damaging	0.96
R4662:Jam2	UTSW	16	84,609,840 (GRCm39)	missense	probably damaging	0.96
R4679:Jam2	UTSW	16	84,609,840 (GRCm39)	missense	probably damaging	0.96
R4741:Jam2	UTSW	16	84,609,840 (GRCm39)	missense	probably damaging	0.96
R4856:Jam2	UTSW	16	84,598,490 (GRCm39)	missense	probably benign	0.39
R4929:Jam2	UTSW	16	84,619,750 (GRCm39)	utr 3 prime	probably benign
R4961:Jam2	UTSW	16	84,606,435 (GRCm39)	nonsense	probably null
R5915:Jam2	UTSW	16	84,606,295 (GRCm39)	missense	probably benign	0.01
R7779:Jam2	UTSW	16	84,606,271 (GRCm39)	missense	probably damaging	1.00
R8790:Jam2	UTSW	16	84,606,259 (GRCm39)	missense	possibly damaging	0.87
R9488:Jam2	UTSW	16	84,619,676 (GRCm39)	missense	probably damaging	1.00
R9640:Jam2	UTSW	16	84,609,960 (GRCm39)	missense	probably benign	0.12
R9785:Jam2	UTSW	16	84,571,397 (GRCm39)	missense	unknown

Posted On

2013-04-17