Incidental Mutation 'R4323:Jam2'
ID 323928
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 041094-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4323 (G1)
Quality Score 222
Status Validated
Chromosome 16
Chromosomal Location 84571011-84622816 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 84619744 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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 95% (59/62)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A G 4: 62,465,548 (GRCm39) Y414C probably damaging Het
Akr1b1 T C 6: 34,287,862 (GRCm39) T166A probably benign Het
Ankhd1 C T 18: 36,711,686 (GRCm39) S94L probably damaging Het
B4galt3 G T 1: 171,103,515 (GRCm39) M68I possibly damaging Het
Bpnt1 A C 1: 185,088,786 (GRCm39) H312P probably benign Het
Ccdc178 T A 18: 22,166,600 (GRCm39) K530* probably null Het
Ccdc191 A G 16: 43,767,872 (GRCm39) E624G probably damaging Het
Clasp2 T C 9: 113,719,027 (GRCm39) V724A possibly damaging Het
Copa G T 1: 171,946,831 (GRCm39) C1022F probably damaging Het
Cwf19l2 T G 9: 3,430,452 (GRCm39) F261L probably damaging Het
Esr1 G A 10: 4,951,307 (GRCm39) V562M possibly damaging Het
Fap T C 2: 62,333,716 (GRCm39) H643R probably damaging Het
Fbxo38 T A 18: 62,648,232 (GRCm39) M769L probably benign Het
Fgfr1 A G 8: 26,063,915 (GRCm39) N814S probably benign Het
Hipk3 C A 2: 104,276,916 (GRCm39) V388L probably damaging Het
Hspa1l T A 17: 35,196,832 (GRCm39) Y290* probably null Het
Itsn1 G A 16: 91,615,440 (GRCm39) probably benign Het
Kprp G A 3: 92,732,163 (GRCm39) R296W probably damaging Het
Med23 T C 10: 24,746,603 (GRCm39) I14T probably benign Het
Mitf A G 6: 97,968,910 (GRCm39) Y10C probably benign Het
Mpo T C 11: 87,686,865 (GRCm39) S165P probably damaging Het
Neb T G 2: 52,154,122 (GRCm39) M2330L possibly damaging Het
Nup214 T C 2: 31,884,696 (GRCm39) S486P probably benign Het
Or2y1f G A 11: 49,184,503 (GRCm39) M118I probably damaging Het
Parp6 G A 9: 59,537,969 (GRCm39) V205I possibly damaging Het
Pate2 A T 9: 35,581,767 (GRCm39) probably benign Het
Pdss1 T C 2: 22,802,608 (GRCm39) probably benign Het
Pira13 A G 7: 3,825,754 (GRCm39) S372P possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Septin1 G A 7: 126,816,200 (GRCm39) P77S probably damaging Het
Slitrk3 A G 3: 72,958,118 (GRCm39) L218P probably damaging Het
Sltm T C 9: 70,487,529 (GRCm39) I521T probably benign Het
Smchd1 A G 17: 71,735,270 (GRCm39) I618T probably benign Het
Sox6 A G 7: 115,179,798 (GRCm39) probably null Het
Sp8 A G 12: 118,812,171 (GRCm39) I9V probably benign Het
Usp9y T A Y: 1,434,407 (GRCm39) M352L possibly damaging Het
Vmn1r46 T C 6: 89,953,349 (GRCm39) M66T probably benign Het
Vmn2r111 A T 17: 22,792,159 (GRCm39) N32K probably benign Het
Vmn2r63 A G 7: 42,576,406 (GRCm39) F469S probably benign Het
Vps13d T A 4: 144,879,348 (GRCm39) T1486S probably benign Het
Wdr55 A G 18: 36,896,153 (GRCm39) N281S probably benign Het
Zswim6 G A 13: 108,025,938 (GRCm39) noncoding transcript 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
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
Predicted Primers PCR Primer
(F):5'- GATACATACTGCAACTTGACTGTC -3'
(R):5'- GTCAGACACAAGATGCCAGG -3'

Sequencing Primer
(F):5'- TGCAACTTGACTGTCCATAAAATTAG -3'
(R):5'- CACAAGATGCCAGGTTGTAATTTAG -3'
Posted On 2015-06-24