Incidental Mutation 'R4741:Jam2'
ID 358102
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 042026-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4741 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 84571011-84622816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 84609840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 151 (V151M)
Ref Sequence ENSEMBL: ENSMUSP00000109833 (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 damaging
Transcript: ENSMUST00000114195
AA Change: V151M

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109833
Gene: ENSMUSG00000053062
AA Change: V151M

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 possibly damaging
Transcript: ENSMUST00000231910
AA Change: V175M

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
Meta Mutation Damage Score 0.1064 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl2 T C 2: 33,136,200 (GRCm39) Y462H probably benign Het
Arhgef12 A G 9: 42,883,449 (GRCm39) I1360T possibly damaging Het
Armc10 T G 5: 21,856,834 (GRCm39) L111R probably damaging Het
Atm T C 9: 53,364,907 (GRCm39) K2628E probably benign Het
Best3 A T 10: 116,859,901 (GRCm39) N387I probably benign Het
Bltp1 A G 3: 36,996,524 (GRCm39) T1079A probably damaging Het
Brpf3 T C 17: 29,036,758 (GRCm39) F721S possibly damaging Het
Cacna1c A G 6: 118,590,271 (GRCm39) S1411P probably damaging Het
Cldn8 G A 16: 88,359,296 (GRCm39) H210Y probably benign Het
Clip2 T A 5: 134,545,123 (GRCm39) T344S probably benign Het
Csmd1 A C 8: 15,960,447 (GRCm39) W3323G probably damaging Het
Doc2a A T 7: 126,450,617 (GRCm39) T298S possibly damaging Het
Dpp9 T C 17: 56,512,286 (GRCm39) N234S probably benign Het
Dtx2 C T 5: 136,055,371 (GRCm39) R353C probably benign Het
Epm2aip1 A G 9: 111,101,681 (GRCm39) H218R probably benign Het
F2rl1 G A 13: 95,650,651 (GRCm39) T77M probably damaging Het
Fsd2 A G 7: 81,201,643 (GRCm39) probably null Het
Grin2a T C 16: 9,481,376 (GRCm39) Y475C probably damaging Het
H2-Ob T A 17: 34,461,545 (GRCm39) S95T possibly damaging Het
Hddc3 A G 7: 79,995,464 (GRCm39) T160A probably benign Het
Hp A T 8: 110,302,104 (GRCm39) C281* probably null Het
Ighg1 T C 12: 113,290,178 (GRCm39) probably benign Het
Ints7 A G 1: 191,351,747 (GRCm39) I819V probably benign Het
Jmjd1c A G 10: 67,060,718 (GRCm39) I737V possibly damaging Het
Krt74 C T 15: 101,669,876 (GRCm39) noncoding transcript Het
Lnpep T C 17: 17,791,920 (GRCm39) Y407C probably damaging Het
Lrp4 T G 2: 91,341,912 (GRCm39) C1842G probably damaging Het
Mug2 T A 6: 122,056,572 (GRCm39) N1172K probably benign Het
Npy6r A T 18: 44,408,791 (GRCm39) T71S probably damaging Het
Nsd3 A T 8: 26,163,382 (GRCm39) I591F probably damaging Het
Oog2 A C 4: 143,921,715 (GRCm39) E208D possibly damaging Het
Otogl A G 10: 107,615,121 (GRCm39) I1928T probably benign Het
Papss1 T C 3: 131,324,860 (GRCm39) L418P probably damaging Het
Pcdhb13 T A 18: 37,576,571 (GRCm39) D316E probably benign Het
Pcdhgb2 T A 18: 37,824,737 (GRCm39) probably null Het
Ptcd3 T A 6: 71,879,933 (GRCm39) L108F probably damaging Het
Ralgps1 T C 2: 33,226,599 (GRCm39) S31G probably benign Het
Rnf225 A T 7: 12,661,857 (GRCm39) H12L probably benign Het
Ryr3 T A 2: 112,633,613 (GRCm39) M2047L probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Serpinb3b G T 1: 107,082,200 (GRCm39) Q355K probably benign Het
Slc8a2 T A 7: 15,868,233 (GRCm39) F155Y probably damaging Het
Taf1c A G 8: 120,330,134 (GRCm39) probably benign Het
Tln2 A G 9: 67,293,837 (GRCm39) probably null Het
Tmpo A G 10: 90,998,506 (GRCm39) V427A probably benign Het
Vmn1r17 A T 6: 57,338,337 (GRCm39) Y9* probably null Het
Vmn2r63 C T 7: 42,577,544 (GRCm39) M331I probably benign Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfand5 C T 19: 21,253,845 (GRCm39) T16I probably damaging Het
Zfp352 A T 4: 90,113,177 (GRCm39) K439M possibly damaging Het
Zfp786 G A 6: 47,797,625 (GRCm39) H438Y probably damaging Het
Zfp808 T A 13: 62,319,763 (GRCm39) C331S probably 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
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'- GTTCAAGTGTTCTGATAACTACTGGG -3'
(R):5'- GAAGTTTAATGCCTGAAACGACC -3'

Sequencing Primer
(F):5'- TGTATATAACCTACCTGGGAGCAAG -3'
(R):5'- GTTTAATGCCTGAAACGACCTTACC -3'
Posted On 2015-11-11