Incidental Mutation 'R4929:Jam2'
ID 381111
Institutional Source Beutler Lab
Gene Symbol Jam2
Ensembl Gene ENSMUSG00000053062
Gene Name junction adhesion molecule 2
Synonyms JAM-2, 2410030G21Rik, Jcam2, 2410167M24Rik, VE-JAM
MMRRC Submission 042530-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4929 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 84571011-84622816 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) G to A at 84619750 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

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency 100% (66/66)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A G 7: 29,273,467 (GRCm39) noncoding transcript Het
Abcd3 A T 3: 121,562,395 (GRCm39) probably null Het
Adamts12 C T 15: 11,259,108 (GRCm39) R551C probably damaging Het
Adamtsl4 A G 3: 95,585,315 (GRCm39) C818R probably damaging Het
Arfgef3 T A 10: 18,506,599 (GRCm39) Q842L probably benign Het
Aurka A T 2: 172,212,326 (GRCm39) V17E probably benign Het
Cdh24 C T 14: 54,870,973 (GRCm39) V132I probably benign Het
Cep57l1 T C 10: 41,621,910 (GRCm39) D2G possibly damaging Het
Cntn5 T A 9: 9,976,400 (GRCm39) probably null Het
Col10a1 T C 10: 34,271,120 (GRCm39) I364T probably benign Het
Dpp6 G A 5: 27,254,785 (GRCm39) A67T probably benign Het
Dym T A 18: 75,376,357 (GRCm39) V583E probably damaging Het
Efcab5 T G 11: 76,994,209 (GRCm39) K1259N probably benign Het
Ehbp1 T G 11: 22,189,169 (GRCm39) I78L possibly damaging Het
Epha1 C A 6: 42,341,533 (GRCm39) A469S probably benign Het
Fam135a T C 1: 24,069,081 (GRCm39) D596G probably benign Het
Filip1 T C 9: 79,727,029 (GRCm39) N530S probably benign Het
Gm57858 G A 3: 36,089,487 (GRCm39) L146F probably damaging Het
Grhl2 A G 15: 37,361,046 (GRCm39) N610S probably benign Het
Haus6 T C 4: 86,513,670 (GRCm39) I331V probably benign Het
Ints2 G T 11: 86,103,479 (GRCm39) N1192K possibly damaging Het
Itga5 A G 15: 103,261,662 (GRCm39) V445A probably benign Het
Itga9 C A 9: 118,636,317 (GRCm39) D82E probably damaging Het
Klhl32 T A 4: 24,709,030 (GRCm39) I112F probably damaging Het
Lepr A G 4: 101,672,314 (GRCm39) I1113V probably benign Het
Lrrc3b C A 14: 15,357,888 (GRCm38) L239F probably damaging Het
Lzic T A 4: 149,572,585 (GRCm39) probably null Het
Mxra8 T A 4: 155,927,118 (GRCm39) F351I probably damaging Het
Naa40 A G 19: 7,207,347 (GRCm39) F126L probably damaging Het
Nbeal1 C T 1: 60,277,813 (GRCm39) S733F probably damaging Het
Olr1 T C 6: 129,477,044 (GRCm39) T74A probably damaging Het
Or52x1 A G 7: 104,853,232 (GRCm39) I106T probably damaging Het
Or5aq7 A G 2: 86,938,527 (GRCm39) F68S possibly damaging Het
Or5h17 A C 16: 58,820,582 (GRCm39) Y178S probably damaging Het
Pgam5 A T 5: 110,413,691 (GRCm39) V130D probably damaging Het
Pop4 A G 7: 37,965,573 (GRCm39) C115R probably damaging Het
Prpf18 A T 2: 4,629,348 (GRCm39) probably null Het
Psg16 G A 7: 16,829,031 (GRCm39) R205H possibly damaging Het
Ptgr1 C A 4: 58,981,879 (GRCm39) A53S probably benign Het
Shank2 A G 7: 143,965,008 (GRCm39) D1451G probably benign Het
Slfn10-ps A G 11: 82,920,345 (GRCm39) noncoding transcript Het
Sox8 G A 17: 25,789,330 (GRCm39) A56V probably benign Het
Ssr3 A G 3: 65,295,175 (GRCm39) S113P probably damaging Het
Stx16 T C 2: 173,938,721 (GRCm39) Y296H possibly damaging Het
Tfcp2 A T 15: 100,426,370 (GRCm39) N60K probably benign Het
Thada T C 17: 84,751,654 (GRCm39) T441A probably benign Het
Trf G T 9: 103,105,074 (GRCm39) probably benign Het
Vamp2 T A 11: 68,979,488 (GRCm39) probably benign Het
Vmn2r105 A T 17: 20,448,280 (GRCm39) D181E probably benign Het
Vmn2r12 A T 5: 109,239,544 (GRCm39) Y340N probably damaging Het
Wasf2 C A 4: 132,923,170 (GRCm39) D493E unknown Het
Wdfy4 T C 14: 32,769,213 (GRCm39) D2084G possibly damaging Het
Zfp229 T A 17: 21,965,354 (GRCm39) I528N probably damaging Het
Zfp703 T A 8: 27,468,879 (GRCm39) V181E possibly damaging Het
Other mutations in Jam2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00568:Jam2 APN 16 84,619,712 (GRCm39) utr 3 prime probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ACATACTGCAACTTGACTGTCC -3'
(R):5'- TTAGGTCAGACACAAGATGCC -3'

Sequencing Primer
(F):5'- CGGACTGTAATTTGAAGAATCTCAG -3'
(R):5'- TCAGACACAAGATGCCAGGTTG -3'
Posted On 2016-04-15