Incidental Mutation 'R2345:Jag2'
| ID |
245993 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jag2
|
| Ensembl Gene |
ENSMUSG00000002799 |
| Gene Name |
jagged 2 |
| Synonyms |
D12Ggc2e, Serh |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2345 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
112871439-112893396 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112872684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1190
(E1190G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075827]
|
| AlphaFold |
Q9QYE5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075827
AA Change: E1190G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075224
Gene: ENSMUSG00000002799
AA Change: E1190G
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000223140
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223304
|
| Meta Mutation Damage Score |
0.1062 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (30/30) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn3 |
A |
T |
12: 101,914,580 (GRCm39) |
M48K |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,210,740 (GRCm39) |
E638G |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Ceacam3 |
T |
G |
7: 16,888,925 (GRCm39) |
D231E |
possibly damaging |
Het |
| Ckb |
G |
A |
12: 111,638,238 (GRCm39) |
T52I |
probably damaging |
Het |
| Elac2 |
T |
C |
11: 64,891,900 (GRCm39) |
M773T |
probably damaging |
Het |
| Fbxw8 |
A |
T |
5: 118,203,872 (GRCm39) |
|
probably benign |
Het |
| Hk3 |
T |
C |
13: 55,156,806 (GRCm39) |
D582G |
probably damaging |
Het |
| Htt |
T |
A |
5: 34,983,348 (GRCm39) |
N982K |
possibly damaging |
Het |
| Kcnc1 |
A |
G |
7: 46,047,370 (GRCm39) |
E90G |
probably damaging |
Het |
| Kynu |
A |
C |
2: 43,471,397 (GRCm39) |
Y71S |
probably damaging |
Het |
| Lonrf1 |
A |
T |
8: 36,690,016 (GRCm39) |
|
probably null |
Het |
| Mfsd4b3-ps |
T |
A |
10: 39,824,069 (GRCm39) |
M64L |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,992,700 (GRCm39) |
F302Y |
probably damaging |
Het |
| Ndst4 |
T |
C |
3: 125,501,769 (GRCm39) |
S111P |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or1f19 |
G |
A |
16: 3,411,003 (GRCm39) |
V248M |
probably damaging |
Het |
| Or5m8 |
A |
G |
2: 85,822,166 (GRCm39) |
T2A |
probably benign |
Het |
| Or8b57 |
T |
G |
9: 40,003,849 (GRCm39) |
I138L |
probably benign |
Het |
| Phf3 |
G |
T |
1: 30,844,432 (GRCm39) |
S1509* |
probably null |
Het |
| Plekhh1 |
A |
T |
12: 79,100,421 (GRCm39) |
I130F |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,238,594 (GRCm39) |
F1953S |
unknown |
Het |
| Togaram1 |
T |
A |
12: 65,055,406 (GRCm39) |
S1466T |
probably benign |
Het |
| Tox2 |
T |
C |
2: 163,161,518 (GRCm39) |
Y348H |
probably damaging |
Het |
| Vmn2r129 |
T |
A |
4: 156,689,334 (GRCm39) |
|
noncoding transcript |
Het |
| Wdr90 |
G |
T |
17: 26,078,136 (GRCm39) |
H411N |
probably benign |
Het |
| Yme1l1 |
C |
T |
2: 23,084,798 (GRCm39) |
T632I |
probably damaging |
Het |
|
| Other mutations in Jag2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTATGCACACGGCCTTGG -3'
(R):5'- CGTATGGTGGACACGAAAGC -3'
Sequencing Primer
(F):5'- TGCCAGCAAGGGTTCTGG -3'
(R):5'- GCTACCACGGGATGAGAGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation