Incidental Mutation 'R4659:Jam2'
ID 352712
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 041919-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4659 (G1)
Quality Score 225
Status 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: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 96% (74/77)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 C A 6: 142,618,321 (GRCm39) probably null Het
Ankrd22 C T 19: 34,102,968 (GRCm39) V118I probably damaging Het
Aoc1 A T 6: 48,883,010 (GRCm39) E295D probably benign Het
Arap2 T C 5: 62,811,469 (GRCm39) N1114S possibly damaging Het
AU021092 C G 16: 5,030,011 (GRCm39) A335P probably damaging Het
Carhsp1 T C 16: 8,482,129 (GRCm39) T51A probably benign Het
Cdc42bpb T C 12: 111,306,325 (GRCm39) D152G probably damaging Het
Cep70 T A 9: 99,178,394 (GRCm39) D497E possibly damaging Het
Chrm5 T C 2: 112,310,102 (GRCm39) N338S probably benign Het
Cldn8 G A 16: 88,359,296 (GRCm39) H210Y probably benign Het
Clhc1 T A 11: 29,528,229 (GRCm39) *586K probably null Het
Cplane1 G T 15: 8,245,760 (GRCm39) probably benign Het
Dop1a T A 9: 86,384,085 (GRCm39) probably benign Het
Dync1h1 T C 12: 110,595,201 (GRCm39) F1371S possibly damaging Het
Eif6 A G 2: 155,668,101 (GRCm39) I46T probably damaging Het
Esco2 G A 14: 66,064,035 (GRCm39) T383M possibly damaging Het
Exoc8 T C 8: 125,624,271 (GRCm39) D32G probably damaging Het
Fam149b G T 14: 20,417,941 (GRCm39) S216I probably benign Het
Fam219a T C 4: 41,521,645 (GRCm39) D87G probably null Het
Fbxw26 A T 9: 109,573,939 (GRCm39) V71D probably damaging Het
Gabra4 T A 5: 71,798,487 (GRCm39) K164M probably damaging Het
Gm57858 T C 3: 36,080,103 (GRCm39) D218G possibly damaging Het
Gm8603 G A 17: 13,737,290 (GRCm39) noncoding transcript Het
Gnmt A G 17: 47,036,892 (GRCm39) F239S probably damaging Het
Gpsm1 G A 2: 26,209,843 (GRCm39) probably benign Het
Kcnj1 A T 9: 32,305,444 (GRCm39) D2V probably benign Het
Limch1 C T 5: 67,184,900 (GRCm39) R797C probably damaging Het
Lrrc9 T A 12: 72,517,038 (GRCm39) F597I probably damaging Het
Lrriq3 T A 3: 154,835,090 (GRCm39) I275N possibly damaging Het
Mcoln1 T A 8: 3,560,840 (GRCm39) S387R probably damaging Het
Mgst3 T A 1: 167,204,848 (GRCm39) Q58L probably damaging Het
Mical1 G A 10: 41,362,932 (GRCm39) probably benign Het
Mmp3 C A 9: 7,453,673 (GRCm39) D431E probably benign Het
Mx1 T C 16: 97,256,439 (GRCm39) probably null Het
Myo7a A G 7: 97,734,673 (GRCm39) L607P probably damaging Het
Myt1l A G 12: 29,899,456 (GRCm39) N153D probably damaging Het
Nfu1 A T 6: 86,996,408 (GRCm39) T120S probably damaging Het
Nhlrc2 T C 19: 56,564,699 (GRCm39) V341A possibly damaging Het
Notch1 T C 2: 26,360,901 (GRCm39) E1148G probably damaging Het
Nqo1 C T 8: 108,117,676 (GRCm39) probably null Het
Nwd1 T A 8: 73,421,949 (GRCm39) D998E probably benign Het
Or8k18 G A 2: 86,085,357 (GRCm39) Q227* probably null Het
Oxct2a T C 4: 123,216,473 (GRCm39) I303V probably benign Het
Parp10 A T 15: 76,127,185 (GRCm39) D58E probably damaging Het
Pcdha6 T A 18: 37,102,292 (GRCm39) V495E probably damaging Het
Pitrm1 T A 13: 6,603,218 (GRCm39) S88R probably benign Het
Pxdn T C 12: 30,044,552 (GRCm39) V510A probably benign Het
Ranbp17 T A 11: 33,216,288 (GRCm39) D820V probably damaging Het
Sec24c G T 14: 20,733,212 (GRCm39) G180C probably damaging Het
Serpina3n T C 12: 104,379,752 (GRCm39) S382P probably benign Het
Sestd1 A T 2: 77,042,843 (GRCm39) M237K probably null Het
Sf3a2 T C 10: 80,639,418 (GRCm39) I136T probably damaging Het
Sh3tc2 A G 18: 62,107,580 (GRCm39) Y197C probably benign Het
Speer4b T C 5: 27,702,893 (GRCm39) K204E probably benign Het
Speer4f1 A C 5: 17,681,221 (GRCm39) E33A possibly damaging Het
Sspo T A 6: 48,461,147 (GRCm39) D3529E probably damaging Het
Stard13 T C 5: 150,986,253 (GRCm39) D419G probably benign Het
Tg A G 15: 66,545,769 (GRCm39) S164G possibly damaging Het
Thap12 A G 7: 98,359,298 (GRCm39) probably benign Het
Thsd1 C A 8: 22,749,314 (GRCm39) Y667* probably null Het
Tnks A C 8: 35,316,465 (GRCm39) Y885D possibly damaging Het
Ttll3 A G 6: 113,391,102 (GRCm39) I896V probably benign Het
Txnip T G 3: 96,466,743 (GRCm39) F190C probably damaging Het
Urb1 T C 16: 90,573,017 (GRCm39) D1005G probably damaging Het
Usp3 T C 9: 66,434,352 (GRCm39) probably null Het
Usp54 G T 14: 20,615,060 (GRCm39) Q794K probably damaging Het
Xrn2 A G 2: 146,903,394 (GRCm39) Q798R probably benign Het
Zfp189 A G 4: 49,530,342 (GRCm39) I482V probably benign Het
Zfp28 A G 7: 6,396,506 (GRCm39) N314D probably benign Het
Zmym4 A G 4: 126,842,221 (GRCm39) probably null 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
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'- AAGTGTTCTGATAACTACTGGGTAG -3'
(R):5'- AAGTTTAATGCCTGAAACGACC -3'

Sequencing Primer
(F):5'- TGTATATAACCTACCTGGGAGCAAG -3'
(R):5'- GTTTAATGCCTGAAACGACCTTACC -3'
Posted On 2015-10-08