Incidental Mutation 'R6844:Jag2'
ID 534681
Institutional Source Beutler Lab
Gene Symbol Jag2
Ensembl Gene ENSMUSG00000002799
Gene Name jagged 2
Synonyms D12Ggc2e, Serh
MMRRC Submission 044950-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6844 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 112871439-112893396 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112880334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 310 (Y310C)
Ref Sequence ENSEMBL: ENSMUSP00000075224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075827]
AlphaFold Q9QYE5
Predicted Effect probably damaging
Transcript: ENSMUST00000075827
AA Change: Y310C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075224
Gene: ENSMUSG00000002799
AA Change: Y310C

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 probably benign
Transcript: ENSMUST00000223140
Meta Mutation Damage Score 0.7971 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 92% (36/39)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap18 G A 10: 26,648,682 (GRCm39) A35T probably benign Het
Arhgap21 A G 2: 20,886,116 (GRCm39) S354P probably benign Het
Casq2 A T 3: 102,017,578 (GRCm39) H86L possibly damaging Het
Ccdc188 G A 16: 18,036,074 (GRCm39) G83E probably damaging Het
Cd22 G T 7: 30,572,856 (GRCm39) probably null Het
Cyp2b13 T A 7: 25,781,122 (GRCm39) I178N probably damaging Het
Cyp4a31 T A 4: 115,420,989 (GRCm39) C26S probably null Het
Eif3h T C 15: 51,728,729 (GRCm39) D42G possibly damaging Het
Elovl4 T A 9: 83,672,164 (GRCm39) I52L probably benign Het
Fgfbp3 C A 19: 36,896,280 (GRCm39) A113S possibly damaging Het
Fsip2 A T 2: 82,813,969 (GRCm39) K3429N possibly damaging Het
Gemin5 T C 11: 58,054,730 (GRCm39) D224G probably benign Het
Gm3415 T C 5: 146,494,811 (GRCm39) I158T probably benign Het
Gpr22 C A 12: 31,759,951 (GRCm39) R20L probably benign Het
Htr1a A G 13: 105,581,455 (GRCm39) K232E possibly damaging Het
Itgax T A 7: 127,747,106 (GRCm39) probably null Het
Lce1j A G 3: 92,696,656 (GRCm39) S41P unknown Het
Mllt10 A G 2: 18,164,294 (GRCm39) I197V probably benign Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Mybpc1 T A 10: 88,372,243 (GRCm39) I796F possibly damaging Het
Nr2c1 T A 10: 94,007,029 (GRCm39) L289* probably null Het
Omp T A 7: 97,794,283 (GRCm39) M115L probably benign Het
Pdcd1 C T 1: 93,967,106 (GRCm39) R264H probably benign Het
Plxna2 T C 1: 194,476,136 (GRCm39) F1119L probably benign Het
Ralyl A G 3: 13,841,938 (GRCm39) T25A probably damaging Het
Rapgef4 A G 2: 72,064,970 (GRCm39) T656A probably damaging Het
Ripor3 C T 2: 167,835,253 (GRCm39) probably null Het
Samd8 T C 14: 21,825,205 (GRCm39) S54P probably damaging Het
Serpinb9g A T 13: 33,670,616 (GRCm39) I35F probably damaging Het
Shisa8 T C 15: 82,096,310 (GRCm39) S102G probably damaging Het
Slc4a1ap T A 5: 31,684,822 (GRCm39) S153T probably damaging Het
Slc4a4 T A 5: 89,376,831 (GRCm39) D1028E probably damaging Het
Slc6a13 T A 6: 121,302,012 (GRCm39) I198N probably damaging Het
Sst C T 16: 23,708,592 (GRCm39) D80N probably benign Het
Synj2 A G 17: 6,026,081 (GRCm39) K47E probably damaging Het
Tal1 C T 4: 114,920,464 (GRCm39) P46L probably benign Het
Top2b A T 14: 16,429,383 (GRCm38) N1541I possibly damaging Het
Vps13b T A 15: 35,877,736 (GRCm39) N2903K probably benign Het
Zfp949 A G 9: 88,451,464 (GRCm39) T345A possibly damaging Het
Zmat3 A G 3: 32,395,644 (GRCm39) Y288H 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
IGL02873:Jag2 APN 12 112,874,122 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- CAGAGTTCACAGGGGTACAG -3'
(R):5'- CAAGTTCTGTGACGAGTGTGTC -3'

Sequencing Primer
(F):5'- GCCCACTGTACAAGGCAG -3'
(R):5'- TGTGACGAGTGTGTCCCCTAC -3'
Posted On 2018-09-12