Incidental Mutation 'IGL02447:Jag2'
ID294022
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jag2
Ensembl Gene ENSMUSG00000002799
Gene Namejagged 2
SynonymsSerh, D12Ggc2e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02447
Quality Score
Status
Chromosome12
Chromosomal Location112907819-112929776 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 112912612 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 799 (Y799C)
Ref Sequence ENSEMBL: ENSMUSP00000075224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075827]
Predicted Effect probably damaging
Transcript: ENSMUST00000075827
AA Change: Y799C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075224
Gene: ENSMUSG00000002799
AA Change: Y799C

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:MNNL 26 105 4.2e-31 PFAM
low complexity region 108 123 N/A INTRINSIC
DSL 178 240 1.48e-36 SMART
EGF_like 244 274 7.23e1 SMART
EGF 275 305 4.56e0 SMART
EGF_CA 307 345 8.5e-9 SMART
EGF 350 383 4e-5 SMART
EGF_CA 385 421 5.39e-11 SMART
EGF_CA 423 459 3.51e-10 SMART
EGF_CA 461 496 1.01e-10 SMART
EGF_CA 498 534 1.17e-6 SMART
EGF_CA 536 572 6.35e-8 SMART
EGF 588 634 7.53e-1 SMART
EGF_CA 636 672 2.89e-11 SMART
EGF 677 710 3.68e-4 SMART
EGF 715 748 1.32e-5 SMART
EGF 754 787 1.34e-6 SMART
EGF_CA 789 825 2.58e-8 SMART
EGF_CA 827 863 7.23e-12 SMART
VWC 872 949 1.3e-1 SMART
low complexity region 1002 1035 N/A INTRINSIC
transmembrane domain 1085 1107 N/A INTRINSIC
low complexity region 1109 1119 N/A INTRINSIC
low complexity region 1170 1199 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220771
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220855
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221320
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221647
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221696
Predicted Effect probably benign
Transcript: ENSMUST00000223140
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223304
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related receptors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation die perinatally with craniofacial defects, fused digits, and increased numbers of sensory hair cells in the cochlea. Homozygotes for a spontaneous mutation exhibit fused digits and sometimes tail kinks. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933425L06Rik A T 13: 105,100,459 S73C probably damaging Het
Abhd18 T A 3: 40,933,773 F351I probably benign Het
Agfg1 T A 1: 82,882,223 probably benign Het
Antxr2 C T 5: 98,030,408 V48I possibly damaging Het
Bcl9l T C 9: 44,507,334 M823T probably benign Het
Card11 G A 5: 140,906,924 H129Y possibly damaging Het
Ccr1 A T 9: 123,963,716 V259E probably benign Het
Cdk13 G T 13: 17,772,416 P586T probably benign Het
Cep295 C T 9: 15,332,511 V1502I probably damaging Het
Csnk1g3 T C 18: 53,895,870 S32P probably benign Het
Dpysl4 G A 7: 139,098,600 R492Q probably damaging Het
Duox2 A G 2: 122,297,468 L78P probably damaging Het
Gm436 T A 4: 144,674,699 I72F probably benign Het
Gm7361 T C 5: 26,257,855 S32P probably benign Het
Grip1 T A 10: 120,020,071 V234E probably damaging Het
Herc1 A T 9: 66,497,328 I4477L possibly damaging Het
Il18r1 G A 1: 40,498,337 probably null Het
Itpkb A G 1: 180,421,354 probably benign Het
Jak2 A G 19: 29,299,614 K857R probably damaging Het
Kbtbd12 A T 6: 88,618,694 S51R probably damaging Het
Kcnc2 T G 10: 112,455,946 D346E probably damaging Het
Kcnh1 T A 1: 192,224,916 M92K possibly damaging Het
Kcnk1 A G 8: 126,025,080 I142V probably damaging Het
Lsm11 T C 11: 45,937,364 N196D probably damaging Het
Mpeg1 G T 19: 12,462,792 C538F probably damaging Het
Nrap G A 19: 56,345,519 Q969* probably null Het
Nup205 T C 6: 35,227,576 probably null Het
Pdcd5 A G 7: 35,642,685 V166A possibly damaging Het
Plcb2 A T 2: 118,713,155 I745N probably damaging Het
Ptprt T C 2: 162,278,107 T147A probably benign Het
Rbp3 A T 14: 33,954,503 D136V probably damaging Het
Ripor3 G T 2: 167,992,830 T247N probably damaging Het
Sgcd A C 11: 46,979,255 probably benign Het
Slc26a6 T C 9: 108,857,052 Y211H probably benign Het
Slc37a3 T A 6: 39,337,195 E494D probably benign Het
Smc5 T C 19: 23,257,492 E326G probably benign Het
Tctn2 T C 5: 124,615,253 noncoding transcript Het
Tk2 T A 8: 104,241,138 N93I probably damaging Het
Tmed6 A G 8: 107,065,608 F2L possibly damaging Het
Tox3 A G 8: 90,258,153 probably benign Het
Tspan9 T C 6: 127,964,438 Y237C probably benign Het
Ubqlnl A G 7: 104,148,649 L547P probably damaging Het
Uggt1 T C 1: 36,150,142 D1421G probably damaging Het
Unc80 T A 1: 66,503,544 I319K possibly damaging Het
Vac14 A G 8: 110,653,628 D441G probably benign Het
Vamp8 C T 6: 72,388,333 V5M probably damaging Het
Yeats2 T A 16: 20,193,679 H560Q probably benign Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp773 G T 7: 7,136,656 probably benign Het
Other mutations in Jag2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Jag2 APN 12 112912718 missense probably benign 0.20
IGL00954:Jag2 APN 12 112920406 missense possibly damaging 0.50
IGL01532:Jag2 APN 12 112914363 missense probably damaging 0.98
IGL01646:Jag2 APN 12 112916349 missense possibly damaging 0.65
IGL02243:Jag2 APN 12 112916345 missense possibly damaging 0.94
IGL02458:Jag2 APN 12 112915993 missense probably damaging 0.98
IGL02516:Jag2 APN 12 112910566 missense probably damaging 1.00
IGL02574:Jag2 APN 12 112915511 missense probably benign 0.32
IGL02629:Jag2 APN 12 112914514 splice site probably benign
IGL02873:Jag2 APN 12 112910502 missense probably benign 0.00
IGL03087:Jag2 APN 12 112913948 missense possibly damaging 0.60
R0068:Jag2 UTSW 12 112915193 splice site probably benign
R0310:Jag2 UTSW 12 112913377 unclassified probably benign
R0963:Jag2 UTSW 12 112915314 missense probably damaging 1.00
R1188:Jag2 UTSW 12 112920121 nonsense probably null
R1256:Jag2 UTSW 12 112914419 missense possibly damaging 0.50
R1298:Jag2 UTSW 12 112916319 unclassified probably benign
R1317:Jag2 UTSW 12 112914501 missense probably benign
R2079:Jag2 UTSW 12 112920377 missense probably damaging 1.00
R2345:Jag2 UTSW 12 112909064 missense probably damaging 1.00
R4654:Jag2 UTSW 12 112913646 missense probably benign 0.13
R4782:Jag2 UTSW 12 112914249 missense probably benign
R4798:Jag2 UTSW 12 112916632 missense probably benign 0.01
R5242:Jag2 UTSW 12 112916866 missense probably damaging 0.97
R5350:Jag2 UTSW 12 112908922 missense possibly damaging 0.77
R5364:Jag2 UTSW 12 112910534 missense probably damaging 1.00
R6129:Jag2 UTSW 12 112920349 nonsense probably null
R6362:Jag2 UTSW 12 112920122 missense probably damaging 0.97
R6376:Jag2 UTSW 12 112909329 missense probably benign 0.00
R6819:Jag2 UTSW 12 112910541 missense probably damaging 1.00
R6844:Jag2 UTSW 12 112916714 missense probably damaging 1.00
R6968:Jag2 UTSW 12 112914258 missense probably benign 0.10
Posted On2015-04-16