Incidental Mutation 'IGL02873:Jag2'
ID 362603
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 # IGL02873
Quality Score
Status
Chromosome 12
Chromosomal Location 112871439-112893396 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112874122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1011 (L1011P)
Ref Sequence ENSEMBL: ENSMUSP00000075224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075827]
AlphaFold Q9QYE5
Predicted Effect probably benign
Transcript: ENSMUST00000075827
AA Change: L1011P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000075224
Gene: ENSMUSG00000002799
AA Change: L1011P

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: ENSMUST00000220855
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405O20Rik A T 7: 50,249,431 (GRCm39) H155L probably damaging Het
5830462I19Rik G A 9: 110,203,446 (GRCm39) probably benign Het
Ankib1 T A 5: 3,822,619 (GRCm39) Q29L probably damaging Het
Arid5b A T 10: 67,937,780 (GRCm39) M449K probably benign Het
Atp1a1 A G 3: 101,483,894 (GRCm39) V1017A probably benign Het
Cfap52 G T 11: 67,822,608 (GRCm39) T421K probably damaging Het
Chd8 A T 14: 52,459,970 (GRCm39) I780N probably damaging Het
Cubn T C 2: 13,299,181 (GRCm39) D3164G probably benign Het
Cyp4f37 A T 17: 32,844,142 (GRCm39) Q82L probably benign Het
Eml6 T A 11: 29,830,700 (GRCm39) D265V probably benign Het
Gm14393 T C 2: 174,903,595 (GRCm39) D104G possibly damaging Het
Gpat2 T C 2: 127,273,675 (GRCm39) V271A probably benign Het
Ifna4 T C 4: 88,760,423 (GRCm39) F109S probably damaging Het
Il27ra T C 8: 84,758,164 (GRCm39) S529G probably benign Het
Kif7 A G 7: 79,356,507 (GRCm39) L728P probably damaging Het
Klhl21 T C 4: 152,099,817 (GRCm39) V509A probably benign Het
Map2k4 T A 11: 65,610,400 (GRCm39) N92I probably damaging Het
Myo15a A T 11: 60,374,308 (GRCm39) D1288V probably damaging Het
Or4k37 T C 2: 111,159,217 (GRCm39) V151A probably benign Het
Or5g25 C A 2: 85,478,096 (GRCm39) A190S possibly damaging Het
Paip1 T A 13: 119,582,348 (GRCm39) F275L possibly damaging Het
Plxnd1 T C 6: 115,936,937 (GRCm39) D1624G probably damaging Het
Ppwd1 C A 13: 104,346,261 (GRCm39) D465Y probably damaging Het
Resf1 T C 6: 149,228,538 (GRCm39) L528P probably damaging Het
Rftn1 A C 17: 50,476,180 (GRCm39) probably benign Het
Scn1b T A 7: 30,817,182 (GRCm39) Y180F probably damaging Het
Slc16a4 A G 3: 107,208,111 (GRCm39) D207G probably benign Het
Slc2a3 T C 6: 122,717,373 (GRCm39) T28A probably damaging Het
Slc47a1 G A 11: 61,253,643 (GRCm39) probably benign Het
Spata1 A T 3: 146,193,122 (GRCm39) V123D possibly damaging Het
Stard9 T C 2: 120,544,288 (GRCm39) V4469A probably damaging Het
Trmu T A 15: 85,781,033 (GRCm39) probably null Het
Trrap T A 5: 144,777,889 (GRCm39) probably benign Het
Ttn T C 2: 76,726,475 (GRCm39) probably benign Het
Tubgcp6 T C 15: 88,988,027 (GRCm39) D974G probably benign Het
Tyw1 C T 5: 130,364,171 (GRCm39) R621C probably benign Het
Usp7 A T 16: 8,513,058 (GRCm39) probably benign Het
Zfp39 T C 11: 58,781,848 (GRCm39) K305E probably benign Het
Zfp692 C T 11: 58,199,765 (GRCm39) T118M probably 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
IGL03087:Jag2 APN 12 112,877,568 (GRCm39) missense possibly damaging 0.60
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 2015-12-18