Incidental Mutation 'IGL03087:Jag2'
ID 418150
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jag2
Ensembl Gene ENSMUSG00000002799
Gene Name jagged 2
Synonyms D12Ggc2e, Serh
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03087
Quality Score
Status
Chromosome 12
Chromosomal Location 112871439-112893396 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 112877568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 670 (L670F)
Ref Sequence ENSEMBL: ENSMUSP00000075224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075827]
AlphaFold Q9QYE5
Predicted Effect possibly damaging
Transcript: ENSMUST00000075827
AA Change: L670F

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000075224
Gene: ENSMUSG00000002799
AA Change: L670F

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 unknown
Transcript: ENSMUST00000223140
AA Change: L235F
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221696
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik C T 5: 25,202,630 (GRCm39) probably benign Het
Acbd5 A G 2: 22,979,722 (GRCm39) T261A probably benign Het
Ap1g2 G A 14: 55,340,493 (GRCm39) T331I probably damaging Het
Ap4m1 A G 5: 138,173,066 (GRCm39) T150A probably benign Het
Arid4a G T 12: 71,122,019 (GRCm39) R478L possibly damaging Het
Bard1 T C 1: 71,106,289 (GRCm39) D446G probably damaging Het
Baz2a T C 10: 127,958,182 (GRCm39) L1087P probably damaging Het
Bnc1 A G 7: 81,624,390 (GRCm39) L279P possibly damaging Het
Bphl A T 13: 34,257,694 (GRCm39) H275L probably damaging Het
Ces1c T C 8: 93,845,042 (GRCm39) I120V probably benign Het
Csmd3 T A 15: 47,840,429 (GRCm39) Y946F probably damaging Het
Dnah8 G A 17: 31,003,118 (GRCm39) V3606I probably benign Het
Eef2 A G 10: 81,017,081 (GRCm39) N696S probably benign Het
Eno4 A G 19: 58,951,248 (GRCm39) H420R possibly damaging Het
Enpp1 T A 10: 24,531,779 (GRCm39) probably benign Het
Fbxo25 T C 8: 13,974,019 (GRCm39) probably null Het
Glt8d1 T A 14: 30,732,053 (GRCm39) F155I probably damaging Het
Golim4 A T 3: 75,785,980 (GRCm39) H598Q possibly damaging Het
Hnrnpdl T A 5: 100,185,460 (GRCm39) E149D probably damaging Het
Ifngr2 G T 16: 91,359,892 (GRCm39) *333L probably null Het
Ift88 T C 14: 57,715,414 (GRCm39) S486P probably benign Het
Igsf9 T C 1: 172,318,310 (GRCm39) I150T probably benign Het
Kcnc2 T A 10: 112,291,652 (GRCm39) I280N probably benign Het
Kif18a A G 2: 109,148,462 (GRCm39) probably benign Het
Lct A G 1: 128,228,112 (GRCm39) L1127P possibly damaging Het
Lonrf1 A T 8: 36,692,705 (GRCm39) probably null Het
Lyst T A 13: 13,809,641 (GRCm39) I437N probably damaging Het
Map3k1 A G 13: 111,885,559 (GRCm39) S1453P probably benign Het
Mcmdc2 A G 1: 10,001,170 (GRCm39) M482V possibly damaging Het
Mical1 T C 10: 41,358,686 (GRCm39) S535P probably damaging Het
Myh3 T C 11: 66,981,798 (GRCm39) F765L probably damaging Het
Nat8f6 A T 6: 85,785,499 (GRCm39) Y217N probably damaging Het
Ndufaf1 A G 2: 119,486,280 (GRCm39) probably benign Het
Neurod6 A T 6: 55,655,760 (GRCm39) C292* probably null Het
Or12j3 T A 7: 139,953,005 (GRCm39) I173F probably damaging Het
Or4c12b A G 2: 89,647,015 (GRCm39) E109G probably damaging Het
Or5j1 A T 2: 86,879,356 (GRCm39) S75T possibly damaging Het
Or6c76 A T 10: 129,612,130 (GRCm39) M116L probably damaging Het
Or7g16 T C 9: 18,727,380 (GRCm39) D70G probably damaging Het
Pcdhac2 A G 18: 37,278,735 (GRCm39) N572D probably damaging Het
Pfpl A G 19: 12,406,241 (GRCm39) N164S probably benign Het
Pi4kb A G 3: 94,892,075 (GRCm39) R264G probably benign Het
Pla2g2c T A 4: 138,458,923 (GRCm39) F10I probably benign Het
Rag2 G A 2: 101,460,559 (GRCm39) V290I probably benign Het
Rhot2 G A 17: 26,060,115 (GRCm39) probably benign Het
Rps6kc1 T C 1: 190,603,908 (GRCm39) Y238C probably damaging Het
Scyl2 G T 10: 89,488,830 (GRCm39) A495D possibly damaging Het
Septin4 T A 11: 87,476,071 (GRCm39) probably benign Het
Serpina5 G T 12: 104,067,992 (GRCm39) A18S probably benign Het
Slc25a11 T C 11: 70,536,033 (GRCm39) T234A probably benign Het
Slc44a2 C T 9: 21,258,061 (GRCm39) T435I probably benign Het
Tekt2 T A 4: 126,218,660 (GRCm39) Q31L possibly damaging Het
Tfpi A G 2: 84,274,389 (GRCm39) V199A possibly damaging Het
Trap1 G T 16: 3,862,565 (GRCm39) probably null Het
Trmt1 A G 8: 85,421,862 (GRCm39) Y213C probably damaging Het
Ubr4 C T 4: 139,177,668 (GRCm39) R3184* probably null Het
Uroc1 G T 6: 90,340,085 (GRCm39) probably benign Het
Vmn1r19 A G 6: 57,381,476 (GRCm39) I10V probably benign Het
Zfhx2 G A 14: 55,310,302 (GRCm39) A748V possibly damaging Het
Other mutations in Jag2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Jag2 APN 12 112,876,338 (GRCm39) missense probably benign 0.20
IGL00954:Jag2 APN 12 112,884,026 (GRCm39) missense possibly damaging 0.50
IGL01532:Jag2 APN 12 112,877,983 (GRCm39) missense probably damaging 0.98
IGL01646:Jag2 APN 12 112,879,969 (GRCm39) missense possibly damaging 0.65
IGL02243:Jag2 APN 12 112,879,965 (GRCm39) missense possibly damaging 0.94
IGL02447:Jag2 APN 12 112,876,232 (GRCm39) missense probably damaging 1.00
IGL02458:Jag2 APN 12 112,879,613 (GRCm39) missense probably damaging 0.98
IGL02516:Jag2 APN 12 112,874,186 (GRCm39) missense probably damaging 1.00
IGL02574:Jag2 APN 12 112,879,131 (GRCm39) missense probably benign 0.32
IGL02629:Jag2 APN 12 112,878,134 (GRCm39) splice site probably benign
IGL02873:Jag2 APN 12 112,874,122 (GRCm39) missense probably benign 0.00
Jaguarundi UTSW 12 112,879,089 (GRCm39) critical splice donor site probably null
R0068:Jag2 UTSW 12 112,878,813 (GRCm39) splice site probably benign
R0310:Jag2 UTSW 12 112,876,997 (GRCm39) unclassified probably benign
R0963:Jag2 UTSW 12 112,878,934 (GRCm39) missense probably damaging 1.00
R1188:Jag2 UTSW 12 112,883,741 (GRCm39) nonsense probably null
R1256:Jag2 UTSW 12 112,878,039 (GRCm39) missense possibly damaging 0.50
R1298:Jag2 UTSW 12 112,879,939 (GRCm39) unclassified probably benign
R1317:Jag2 UTSW 12 112,878,121 (GRCm39) missense probably benign
R2079:Jag2 UTSW 12 112,883,997 (GRCm39) missense probably damaging 1.00
R2345:Jag2 UTSW 12 112,872,684 (GRCm39) missense probably damaging 1.00
R4654:Jag2 UTSW 12 112,877,266 (GRCm39) missense probably benign 0.13
R4782:Jag2 UTSW 12 112,877,869 (GRCm39) missense probably benign
R4798:Jag2 UTSW 12 112,880,252 (GRCm39) missense probably benign 0.01
R5242:Jag2 UTSW 12 112,880,486 (GRCm39) missense probably damaging 0.97
R5350:Jag2 UTSW 12 112,872,542 (GRCm39) missense possibly damaging 0.77
R5364:Jag2 UTSW 12 112,874,154 (GRCm39) missense probably damaging 1.00
R6129:Jag2 UTSW 12 112,883,969 (GRCm39) nonsense probably null
R6362:Jag2 UTSW 12 112,883,742 (GRCm39) missense probably damaging 0.97
R6376:Jag2 UTSW 12 112,872,949 (GRCm39) missense probably benign 0.00
R6819:Jag2 UTSW 12 112,874,161 (GRCm39) missense probably damaging 1.00
R6844:Jag2 UTSW 12 112,880,334 (GRCm39) missense probably damaging 1.00
R6968:Jag2 UTSW 12 112,877,878 (GRCm39) missense probably benign 0.10
R7514:Jag2 UTSW 12 112,892,672 (GRCm39) missense probably benign 0.19
R7663:Jag2 UTSW 12 112,877,286 (GRCm39) missense probably damaging 1.00
R7730:Jag2 UTSW 12 112,885,661 (GRCm39) missense probably damaging 1.00
R7754:Jag2 UTSW 12 112,879,089 (GRCm39) critical splice donor site probably null
R7828:Jag2 UTSW 12 112,876,800 (GRCm39) missense probably benign 0.19
R7874:Jag2 UTSW 12 112,879,566 (GRCm39) missense probably damaging 0.99
R8075:Jag2 UTSW 12 112,878,894 (GRCm39) missense probably benign 0.05
R8845:Jag2 UTSW 12 112,883,714 (GRCm39) missense probably damaging 1.00
R8876:Jag2 UTSW 12 112,873,257 (GRCm39) missense probably benign 0.00
R9117:Jag2 UTSW 12 112,877,279 (GRCm39) nonsense probably null
R9400:Jag2 UTSW 12 112,875,608 (GRCm39) nonsense probably null
R9673:Jag2 UTSW 12 112,875,416 (GRCm39) nonsense probably null
R9688:Jag2 UTSW 12 112,872,564 (GRCm39) missense probably benign 0.30
Posted On 2016-08-02