Incidental Mutation 'IGL00805:Jam2'
ID 11526
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 # IGL00805
Quality Score
Status
Chromosome 16
Chromosomal Location 84571011-84622816 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 84612054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098407] [ENSMUST00000114195] [ENSMUST00000231910]
AlphaFold Q9JI59
Predicted Effect probably benign
Transcript: ENSMUST00000098407
SMART Domains Protein: ENSMUSP00000096007
Gene: ENSMUSG00000053062

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IG 36 132 7.7e-5 SMART
low complexity region 170 180 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114195
SMART Domains Protein: ENSMUSP00000109833
Gene: ENSMUSG00000053062

DomainStartEndE-ValueType
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: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A T 2: 35,270,422 (GRCm39) V93E probably damaging Het
Ampd3 A G 7: 110,409,072 (GRCm39) I704V possibly damaging Het
Apcdd1 T A 18: 63,066,936 (GRCm39) probably benign Het
Dnah9 T C 11: 65,772,521 (GRCm39) Y3737C probably benign Het
Ercc4 G T 16: 12,939,868 (GRCm39) V43L possibly damaging Het
Mrpl3 T A 9: 104,941,305 (GRCm39) V204E probably damaging Het
Ptpn13 T A 5: 103,702,595 (GRCm39) M1187K probably benign Het
Sis C A 3: 72,841,532 (GRCm39) R761I probably benign Het
Sos1 A G 17: 80,705,953 (GRCm39) V1206A possibly damaging Het
Stxbp3 A T 3: 108,723,667 (GRCm39) D189E probably benign Het
T T A 17: 8,655,997 (GRCm39) D86E probably benign Het
Tek A T 4: 94,686,956 (GRCm39) N158I probably damaging Het
Other mutations in Jam2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00568:Jam2 APN 16 84,619,712 (GRCm39) utr 3 prime 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 2012-12-06