Incidental Mutation 'R7874:Jag2'
ID 608339
Institutional Source Beutler Lab
Gene Symbol Jag2
Ensembl Gene ENSMUSG00000002799
Gene Name jagged 2
Synonyms D12Ggc2e, Serh
MMRRC Submission 045926-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7874 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 112871439-112893396 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 112879566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 401 (V401M)
Ref Sequence ENSEMBL: ENSMUSP00000075224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075827]
AlphaFold Q9QYE5
Predicted Effect probably damaging
Transcript: ENSMUST00000075827
AA Change: V401M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075224
Gene: ENSMUSG00000002799
AA Change: V401M

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
Meta Mutation Damage Score 0.1426 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (57/58)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008P02Rik C A 3: 6,685,201 (GRCm39) K84N probably damaging Het
Aacs T C 5: 125,583,271 (GRCm39) F276L possibly damaging Het
Aicda T A 6: 122,538,908 (GRCm39) I179N probably damaging Het
Anks6 T A 4: 47,049,275 (GRCm39) H210L unknown Het
Ano1 G A 7: 144,175,461 (GRCm39) R486W probably damaging Het
Aoc1l3 A G 6: 48,965,600 (GRCm39) N536S possibly damaging Het
Atp8b1 A G 18: 64,704,095 (GRCm39) V341A probably benign Het
Btn1a1 T C 13: 23,643,385 (GRCm39) T355A possibly damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 114,903,257 (GRCm39) probably benign Het
Ceacam19 A T 7: 19,620,363 (GRCm39) D89E probably damaging Het
Cerkl T A 2: 79,168,981 (GRCm39) R407S probably damaging Het
Chl1 A G 6: 103,667,224 (GRCm39) T389A probably benign Het
Dcn A G 10: 97,346,056 (GRCm39) probably null Het
Defa39 C A 8: 22,192,812 (GRCm39) R61S possibly damaging Het
Dhtkd1 T C 2: 5,922,485 (GRCm39) Q558R possibly damaging Het
Dhx36 C A 3: 62,396,052 (GRCm39) V452L probably benign Het
Dlg5 A G 14: 24,185,687 (GRCm39) V1906A probably damaging Het
Emc4 T C 2: 112,194,178 (GRCm39) T159A probably damaging Het
Fstl5 C A 3: 76,569,093 (GRCm39) P582Q probably benign Het
Izumo1r T A 9: 14,811,875 (GRCm39) Y171F probably benign Het
Jph2 C T 2: 163,217,762 (GRCm39) G305S probably damaging Het
Kbtbd13 C A 9: 65,297,584 (GRCm39) V451L probably benign Het
Map3k12 T C 15: 102,409,077 (GRCm39) T813A possibly damaging Het
Mast4 A G 13: 102,875,783 (GRCm39) L1295P probably damaging Het
Mia2 T A 12: 59,155,374 (GRCm39) D362E probably damaging Het
Mospd3 T C 5: 137,598,290 (GRCm39) Y77C probably damaging Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Mup8 T A 4: 60,222,420 (GRCm39) H17L probably damaging Het
Naip2 C T 13: 100,291,459 (GRCm39) D1160N probably benign Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Ndnf A T 6: 65,680,413 (GRCm39) M231L probably benign Het
Obscn T G 11: 59,024,102 (GRCm39) T523P probably damaging Het
Or2t46 T C 11: 58,472,573 (GRCm39) V301A possibly damaging Het
P4htm G T 9: 108,474,148 (GRCm39) A130E probably benign Het
Phc3 A T 3: 30,990,863 (GRCm39) D439E probably benign Het
Phlpp1 A G 1: 106,317,603 (GRCm39) I1275V probably benign Het
Poln A T 5: 34,181,694 (GRCm39) I719N probably damaging Het
Ptch2 T A 4: 116,963,161 (GRCm39) L216Q possibly damaging Het
Rarres2 T A 6: 48,549,079 (GRCm39) K41N probably benign Het
Rasal3 C T 17: 32,615,681 (GRCm39) E386K possibly damaging Het
Rev3l T C 10: 39,698,491 (GRCm39) I996T possibly damaging Het
Rreb1 A G 13: 38,131,100 (GRCm39) N36S probably damaging Het
Serpinb9d T A 13: 33,386,654 (GRCm39) probably null Het
Slc14a2 A G 18: 78,203,983 (GRCm39) V526A probably benign Het
Slc45a4 T C 15: 73,456,184 (GRCm39) probably null Het
Srrm2 G A 17: 24,034,652 (GRCm39) R432H unknown Het
Th G A 7: 142,449,308 (GRCm39) R266* probably null Het
Tln1 T C 4: 43,538,041 (GRCm39) Y1853C probably damaging Het
Tln1 A T 4: 43,555,606 (GRCm39) D169E probably damaging Het
Tmcc3 G A 10: 94,386,889 (GRCm39) probably null Het
Tnxb A G 17: 34,930,417 (GRCm39) E2034G probably damaging Het
Top6bl C T 19: 4,708,451 (GRCm39) C347Y probably damaging Het
Ttc4 T C 4: 106,522,881 (GRCm39) T346A probably benign Het
Vmn2r5 A T 3: 64,398,453 (GRCm39) V842E probably damaging Het
Vmn2r82 T G 10: 79,232,345 (GRCm39) N781K probably damaging Het
Zdhhc17 A T 10: 110,817,978 (GRCm39) Y67N possibly damaging Het
Zfp273 A G 13: 67,973,558 (GRCm39) T229A probably benign Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P probably damaging Het
Zswim8 A G 14: 20,773,217 (GRCm39) H1769R probably damaging Het
Zzef1 T C 11: 72,750,479 (GRCm39) V929A probably benign 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
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
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'- ACTCATTGGCGTCTGTGAATG -3'
(R):5'- ACACGATCCCACGTTCACTG -3'

Sequencing Primer
(F):5'- CATTGGCGTCTGTGAATGAGACAAG -3'
(R):5'- GGCCATAGTCTGTACCCGTTGAC -3'
Posted On 2019-12-20