Incidental Mutation 'R1765:Notch2'
| ID |
194263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Notch2
|
| Ensembl Gene |
ENSMUSG00000027878 |
| Gene Name |
notch 2 |
| Synonyms |
Motch B, N2 |
| MMRRC Submission |
039797-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1765 (G1)
|
| Quality Score |
170 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
97920854-98057683 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 98029242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 1002
(C1002G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079812]
|
| AlphaFold |
O35516 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079812
AA Change: C1002G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078741
Gene: ENSMUSG00000027878
AA Change: C1002G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
EGF
|
27 |
63 |
5.79e-2 |
SMART |
|
EGF
|
67 |
102 |
1.54e-6 |
SMART |
|
EGF
|
108 |
143 |
6.25e-7 |
SMART |
|
EGF
|
147 |
180 |
5.28e-5 |
SMART |
|
EGF_CA
|
182 |
219 |
6.14e-15 |
SMART |
|
EGF
|
224 |
258 |
5.08e-7 |
SMART |
|
EGF_CA
|
260 |
296 |
1.95e-8 |
SMART |
|
EGF_CA
|
298 |
336 |
3.91e-8 |
SMART |
|
EGF_CA
|
338 |
374 |
7.69e-7 |
SMART |
|
EGF
|
378 |
413 |
6.86e-4 |
SMART |
|
EGF_CA
|
415 |
454 |
4.15e-12 |
SMART |
|
EGF_CA
|
456 |
492 |
3.24e-14 |
SMART |
|
EGF_CA
|
494 |
530 |
4.77e-12 |
SMART |
|
EGF_CA
|
532 |
568 |
2.04e-11 |
SMART |
|
EGF_CA
|
570 |
605 |
1.18e-7 |
SMART |
|
EGF_CA
|
607 |
643 |
7.12e-11 |
SMART |
|
EGF_CA
|
645 |
680 |
1.82e-8 |
SMART |
|
EGF_CA
|
682 |
718 |
1.42e-10 |
SMART |
|
EGF_CA
|
720 |
755 |
1.25e-6 |
SMART |
|
EGF_CA
|
757 |
793 |
3.61e-12 |
SMART |
|
EGF_CA
|
795 |
831 |
1.53e-10 |
SMART |
|
EGF
|
836 |
871 |
1.34e-6 |
SMART |
|
EGF_CA
|
873 |
909 |
6.05e-14 |
SMART |
|
EGF_CA
|
911 |
947 |
9.54e-12 |
SMART |
|
EGF_CA
|
949 |
985 |
1.39e-13 |
SMART |
|
EGF_CA
|
987 |
1023 |
1.26e-11 |
SMART |
|
EGF_CA
|
1025 |
1061 |
9.31e-15 |
SMART |
|
EGF
|
1066 |
1099 |
1.39e-4 |
SMART |
|
EGF
|
1104 |
1147 |
2.6e-4 |
SMART |
|
EGF_CA
|
1149 |
1185 |
1.55e-11 |
SMART |
|
EGF_CA
|
1187 |
1223 |
2.74e-12 |
SMART |
|
EGF_CA
|
1225 |
1262 |
4.15e-12 |
SMART |
|
EGF
|
1267 |
1302 |
1.43e-1 |
SMART |
|
EGF
|
1307 |
1343 |
2.33e-6 |
SMART |
|
EGF
|
1377 |
1412 |
9.85e-5 |
SMART |
|
NL
|
1418 |
1456 |
8.55e-19 |
SMART |
|
NL
|
1459 |
1497 |
2.27e-14 |
SMART |
|
NL
|
1498 |
1535 |
1.16e-11 |
SMART |
|
NOD
|
1539 |
1595 |
3.4e-28 |
SMART |
|
NODP
|
1619 |
1679 |
1.66e-22 |
SMART |
|
transmembrane domain
|
1680 |
1702 |
N/A |
INTRINSIC |
|
ANK
|
1828 |
1872 |
2.18e2 |
SMART |
|
ANK
|
1877 |
1906 |
3.36e-2 |
SMART |
|
ANK
|
1910 |
1940 |
1.81e2 |
SMART |
|
ANK
|
1944 |
1973 |
6.61e-1 |
SMART |
|
ANK
|
1977 |
2006 |
5.24e-4 |
SMART |
|
ANK
|
2010 |
2039 |
3.41e-3 |
SMART |
|
low complexity region
|
2179 |
2193 |
N/A |
INTRINSIC |
|
low complexity region
|
2232 |
2241 |
N/A |
INTRINSIC |
|
DUF3454
|
2382 |
2447 |
4.62e-30 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200084
|
| Meta Mutation Damage Score |
0.9750 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.8%
|
| Validation Efficiency |
99% (90/91) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygotes for null alleles exhibit defects in embryonic development resulting in embryonic or neonatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
G |
T |
15: 59,887,194 (GRCm39) |
C415* |
probably null |
Het |
| Adamtsl2 |
A |
C |
2: 26,992,842 (GRCm39) |
I652L |
probably benign |
Het |
| Adgrl4 |
T |
C |
3: 151,248,872 (GRCm39) |
I720T |
probably damaging |
Het |
| Agrn |
A |
T |
4: 156,261,284 (GRCm39) |
C604* |
probably null |
Het |
| Amh |
AGCGCCTTGG |
AG |
10: 80,641,419 (GRCm39) |
|
probably null |
Het |
| B3galt2 |
C |
A |
1: 143,522,207 (GRCm39) |
N114K |
probably benign |
Het |
| Bud23 |
A |
T |
5: 135,084,897 (GRCm39) |
M59K |
probably benign |
Het |
| C3 |
C |
T |
17: 57,531,401 (GRCm39) |
|
probably null |
Het |
| C9orf72 |
A |
C |
4: 35,197,098 (GRCm39) |
H322Q |
probably damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,871,873 (GRCm39) |
D903V |
probably damaging |
Het |
| Ccdc9b |
G |
A |
2: 118,591,128 (GRCm39) |
A135V |
probably benign |
Het |
| Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
| Cdan1 |
A |
C |
2: 120,551,230 (GRCm39) |
L1097V |
probably damaging |
Het |
| Cdc26 |
T |
A |
4: 62,313,155 (GRCm39) |
N62I |
probably benign |
Het |
| Cdc27 |
G |
T |
11: 104,425,607 (GRCm39) |
Q70K |
probably damaging |
Het |
| Cenpq |
A |
T |
17: 41,235,178 (GRCm39) |
|
probably null |
Het |
| Cep295 |
T |
C |
9: 15,239,200 (GRCm39) |
S1858G |
probably damaging |
Het |
| Clasp1 |
T |
C |
1: 118,433,261 (GRCm39) |
S247P |
probably damaging |
Het |
| Cyp2w1 |
C |
T |
5: 139,339,623 (GRCm39) |
T71I |
probably damaging |
Het |
| Dcaf1 |
T |
C |
9: 106,741,793 (GRCm39) |
F1336S |
probably damaging |
Het |
| Dennd6b |
G |
A |
15: 89,074,506 (GRCm39) |
Q104* |
probably null |
Het |
| Dglucy |
T |
A |
12: 100,816,361 (GRCm39) |
|
probably null |
Het |
| Dnajc9 |
A |
G |
14: 20,438,158 (GRCm39) |
V148A |
possibly damaging |
Het |
| Dnmbp |
T |
A |
19: 43,890,579 (GRCm39) |
D396V |
possibly damaging |
Het |
| Dock10 |
T |
A |
1: 80,583,540 (GRCm39) |
I221F |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,486,579 (GRCm39) |
N1032S |
probably benign |
Het |
| Dsg4 |
A |
C |
18: 20,589,888 (GRCm39) |
Y346S |
probably benign |
Het |
| Dync1i2 |
A |
G |
2: 71,079,759 (GRCm39) |
H417R |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,167,884 (GRCm39) |
|
probably null |
Het |
| Elovl1 |
A |
G |
4: 118,287,707 (GRCm39) |
M1V |
probably null |
Het |
| Eva1c |
A |
G |
16: 90,701,135 (GRCm39) |
S257G |
probably benign |
Het |
| Eya2 |
A |
T |
2: 165,566,723 (GRCm39) |
D258V |
probably damaging |
Het |
| Fam193a |
A |
G |
5: 34,593,841 (GRCm39) |
T113A |
probably damaging |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Fstl5 |
G |
T |
3: 76,500,783 (GRCm39) |
R404L |
possibly damaging |
Het |
| Glud1 |
T |
C |
14: 34,047,541 (GRCm39) |
|
probably benign |
Het |
| Gm10770 |
A |
C |
2: 150,021,258 (GRCm39) |
H86Q |
probably damaging |
Het |
| Gzme |
C |
T |
14: 56,355,871 (GRCm39) |
G147D |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,865,645 (GRCm39) |
V746A |
probably damaging |
Het |
| Hmga1 |
A |
G |
17: 27,778,592 (GRCm39) |
E17G |
probably damaging |
Het |
| Kdelr2 |
A |
T |
5: 143,406,567 (GRCm39) |
K206* |
probably null |
Het |
| Kng2 |
A |
G |
16: 22,806,993 (GRCm39) |
|
probably null |
Het |
| Lrrc41 |
G |
A |
4: 115,946,248 (GRCm39) |
R321H |
possibly damaging |
Het |
| Mapkapk2 |
A |
T |
1: 130,986,498 (GRCm39) |
M1K |
probably null |
Het |
| Me2 |
A |
G |
18: 73,924,929 (GRCm39) |
F263L |
probably damaging |
Het |
| Mkks |
A |
G |
2: 136,722,287 (GRCm39) |
L290P |
probably damaging |
Het |
| Mmp12 |
T |
A |
9: 7,354,772 (GRCm39) |
I255N |
probably damaging |
Het |
| Mogs |
A |
G |
6: 83,093,784 (GRCm39) |
D251G |
probably benign |
Het |
| Morf4l1 |
T |
A |
9: 89,984,401 (GRCm39) |
Y65F |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,094,676 (GRCm39) |
D5169G |
probably damaging |
Het |
| Nin |
A |
G |
12: 70,089,665 (GRCm39) |
L1250P |
probably damaging |
Het |
| Nomo1 |
G |
T |
7: 45,715,717 (GRCm39) |
G721V |
possibly damaging |
Het |
| Npat |
T |
C |
9: 53,481,522 (GRCm39) |
Y1077H |
probably benign |
Het |
| Or1e1c |
T |
A |
11: 73,266,170 (GRCm39) |
N198K |
probably damaging |
Het |
| Or4g17 |
G |
A |
2: 111,209,491 (GRCm39) |
V49I |
probably benign |
Het |
| Or4p21 |
A |
T |
2: 88,276,367 (GRCm39) |
F305Y |
probably damaging |
Het |
| Or5h25 |
A |
G |
16: 58,930,118 (GRCm39) |
L285P |
probably damaging |
Het |
| Or8c16 |
T |
C |
9: 38,130,548 (GRCm39) |
I143T |
probably benign |
Het |
| Otop2 |
A |
T |
11: 115,215,504 (GRCm39) |
I142F |
probably benign |
Het |
| Pacsin3 |
A |
G |
2: 91,093,460 (GRCm39) |
E279G |
possibly damaging |
Het |
| Pafah2 |
A |
G |
4: 134,140,758 (GRCm39) |
T243A |
probably benign |
Het |
| Pcdhgc5 |
A |
G |
18: 37,954,913 (GRCm39) |
H729R |
probably benign |
Het |
| Plcd1 |
T |
C |
9: 118,900,874 (GRCm39) |
D756G |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,102,962 (GRCm39) |
E2707G |
probably damaging |
Het |
| Rit2 |
C |
T |
18: 31,449,951 (GRCm39) |
G16S |
probably damaging |
Het |
| Sec24c |
A |
G |
14: 20,738,922 (GRCm39) |
|
probably benign |
Het |
| Skint5 |
G |
T |
4: 113,434,858 (GRCm39) |
T1037K |
unknown |
Het |
| Slc28a2 |
T |
A |
2: 122,290,876 (GRCm39) |
|
probably null |
Het |
| Slc41a2 |
G |
A |
10: 83,137,130 (GRCm39) |
A259V |
probably damaging |
Het |
| Slc6a17 |
T |
A |
3: 107,380,895 (GRCm39) |
I537F |
possibly damaging |
Het |
| Slco1a7 |
T |
C |
6: 141,700,084 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,707,196 (GRCm39) |
|
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,738,938 (GRCm39) |
I3489V |
probably benign |
Het |
| Sytl3 |
T |
C |
17: 6,967,082 (GRCm39) |
L142P |
probably damaging |
Het |
| Tektl1 |
A |
T |
10: 78,584,502 (GRCm39) |
M340K |
probably benign |
Het |
| Tfr2 |
C |
T |
5: 137,581,707 (GRCm39) |
T598I |
probably damaging |
Het |
| Tmc2 |
A |
G |
2: 130,102,145 (GRCm39) |
Q770R |
probably benign |
Het |
| Tnc |
C |
T |
4: 63,932,231 (GRCm39) |
V728M |
probably damaging |
Het |
| Trim68 |
A |
T |
7: 102,329,597 (GRCm39) |
M177K |
possibly damaging |
Het |
| Trmt11 |
T |
C |
10: 30,435,184 (GRCm39) |
D325G |
probably benign |
Het |
| Ube3a |
C |
T |
7: 58,935,862 (GRCm39) |
T582I |
probably damaging |
Het |
| Usp13 |
G |
A |
3: 32,969,919 (GRCm39) |
E682K |
probably benign |
Het |
| Usp9y |
A |
G |
Y: 1,384,454 (GRCm39) |
V688A |
possibly damaging |
Het |
| Uts2r |
A |
G |
11: 121,052,095 (GRCm39) |
T320A |
possibly damaging |
Het |
| Vmn1r34 |
A |
T |
6: 66,614,480 (GRCm39) |
M86K |
probably damaging |
Het |
| Vsig10 |
A |
G |
5: 117,456,880 (GRCm39) |
|
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,368,132 (GRCm39) |
C607S |
probably benign |
Het |
|
| Other mutations in Notch2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00675:Notch2
|
APN |
3 |
98,018,991 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01517:Notch2
|
APN |
3 |
98,045,971 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01630:Notch2
|
APN |
3 |
98,053,934 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01637:Notch2
|
APN |
3 |
98,053,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01828:Notch2
|
APN |
3 |
97,979,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01998:Notch2
|
APN |
3 |
98,050,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02008:Notch2
|
APN |
3 |
98,054,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02030:Notch2
|
APN |
3 |
98,006,737 (GRCm39) |
splice site |
probably null |
|
|
IGL02155:Notch2
|
APN |
3 |
98,045,806 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02268:Notch2
|
APN |
3 |
98,044,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02301:Notch2
|
APN |
3 |
98,048,870 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02336:Notch2
|
APN |
3 |
98,045,711 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02340:Notch2
|
APN |
3 |
98,054,652 (GRCm39) |
nonsense |
probably null |
|
|
IGL02536:Notch2
|
APN |
3 |
98,009,723 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02589:Notch2
|
APN |
3 |
98,011,663 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02633:Notch2
|
APN |
3 |
98,024,013 (GRCm39) |
splice site |
probably benign |
|
|
IGL02691:Notch2
|
APN |
3 |
98,042,923 (GRCm39) |
nonsense |
probably null |
|
|
IGL02832:Notch2
|
APN |
3 |
98,044,689 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02894:Notch2
|
APN |
3 |
98,009,748 (GRCm39) |
nonsense |
probably null |
|
|
IGL02902:Notch2
|
APN |
3 |
98,018,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02967:Notch2
|
APN |
3 |
98,053,460 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03015:Notch2
|
APN |
3 |
97,979,965 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
PIT4378001:Notch2
|
UTSW |
3 |
98,050,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4519001:Notch2
|
UTSW |
3 |
98,005,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4581001:Notch2
|
UTSW |
3 |
98,011,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0111:Notch2
|
UTSW |
3 |
98,046,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0129:Notch2
|
UTSW |
3 |
98,053,936 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0143:Notch2
|
UTSW |
3 |
98,053,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0480:Notch2
|
UTSW |
3 |
98,053,853 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0523:Notch2
|
UTSW |
3 |
98,018,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0523:Notch2
|
UTSW |
3 |
97,978,286 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0531:Notch2
|
UTSW |
3 |
98,009,767 (GRCm39) |
splice site |
probably benign |
|
|
R0537:Notch2
|
UTSW |
3 |
98,024,057 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0987:Notch2
|
UTSW |
3 |
98,041,993 (GRCm39) |
splice site |
probably null |
|
|
R1485:Notch2
|
UTSW |
3 |
98,007,573 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1555:Notch2
|
UTSW |
3 |
98,038,656 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1625:Notch2
|
UTSW |
3 |
98,018,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1699:Notch2
|
UTSW |
3 |
98,052,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1794:Notch2
|
UTSW |
3 |
98,006,863 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1974:Notch2
|
UTSW |
3 |
97,980,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2086:Notch2
|
UTSW |
3 |
98,009,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2099:Notch2
|
UTSW |
3 |
98,022,637 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3778:Notch2
|
UTSW |
3 |
98,053,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3924:Notch2
|
UTSW |
3 |
98,029,350 (GRCm39) |
nonsense |
probably null |
|
|
R4018:Notch2
|
UTSW |
3 |
98,011,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4151:Notch2
|
UTSW |
3 |
98,054,387 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4417:Notch2
|
UTSW |
3 |
98,038,586 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4510:Notch2
|
UTSW |
3 |
98,053,637 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4511:Notch2
|
UTSW |
3 |
98,053,637 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4636:Notch2
|
UTSW |
3 |
98,053,420 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4661:Notch2
|
UTSW |
3 |
98,042,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4856:Notch2
|
UTSW |
3 |
98,009,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4886:Notch2
|
UTSW |
3 |
98,009,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4945:Notch2
|
UTSW |
3 |
98,019,037 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4970:Notch2
|
UTSW |
3 |
98,008,952 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4974:Notch2
|
UTSW |
3 |
98,046,949 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5082:Notch2
|
UTSW |
3 |
98,007,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5112:Notch2
|
UTSW |
3 |
98,008,952 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5156:Notch2
|
UTSW |
3 |
98,031,626 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5433:Notch2
|
UTSW |
3 |
98,033,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5539:Notch2
|
UTSW |
3 |
98,044,898 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5813:Notch2
|
UTSW |
3 |
98,042,744 (GRCm39) |
missense |
probably benign |
|
|
R5827:Notch2
|
UTSW |
3 |
97,980,178 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5908:Notch2
|
UTSW |
3 |
98,031,239 (GRCm39) |
intron |
probably benign |
|
|
R6021:Notch2
|
UTSW |
3 |
98,029,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6090:Notch2
|
UTSW |
3 |
98,042,693 (GRCm39) |
nonsense |
probably null |
|
|
R6103:Notch2
|
UTSW |
3 |
98,043,059 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6111:Notch2
|
UTSW |
3 |
98,053,609 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6168:Notch2
|
UTSW |
3 |
98,052,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6382:Notch2
|
UTSW |
3 |
98,048,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6404:Notch2
|
UTSW |
3 |
97,989,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6419:Notch2
|
UTSW |
3 |
98,007,705 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6454:Notch2
|
UTSW |
3 |
98,044,722 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6626:Notch2
|
UTSW |
3 |
98,008,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6629:Notch2
|
UTSW |
3 |
98,028,197 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6706:Notch2
|
UTSW |
3 |
98,045,746 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6735:Notch2
|
UTSW |
3 |
98,041,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6837:Notch2
|
UTSW |
3 |
97,978,170 (GRCm39) |
splice site |
probably null |
|
|
R7021:Notch2
|
UTSW |
3 |
98,042,762 (GRCm39) |
missense |
probably benign |
|
|
R7028:Notch2
|
UTSW |
3 |
98,009,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7228:Notch2
|
UTSW |
3 |
98,044,633 (GRCm39) |
nonsense |
probably null |
|
|
R7320:Notch2
|
UTSW |
3 |
98,038,643 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7361:Notch2
|
UTSW |
3 |
98,038,718 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7562:Notch2
|
UTSW |
3 |
98,020,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7630:Notch2
|
UTSW |
3 |
98,044,824 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7637:Notch2
|
UTSW |
3 |
98,053,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7748:Notch2
|
UTSW |
3 |
98,045,800 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7764:Notch2
|
UTSW |
3 |
98,050,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7817:Notch2
|
UTSW |
3 |
98,014,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7952:Notch2
|
UTSW |
3 |
98,007,552 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8136:Notch2
|
UTSW |
3 |
98,031,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8159:Notch2
|
UTSW |
3 |
98,028,238 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8679:Notch2
|
UTSW |
3 |
98,029,218 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8879:Notch2
|
UTSW |
3 |
98,042,915 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9146:Notch2
|
UTSW |
3 |
98,011,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9398:Notch2
|
UTSW |
3 |
98,009,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9422:Notch2
|
UTSW |
3 |
98,054,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9594:Notch2
|
UTSW |
3 |
98,041,889 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGCATTGGAGTCTCAGAGGTG -3'
(R):5'- ACCTGGAAACTAGACAGAGTCCTCG -3'
Sequencing Primer
(F):5'- ttagcagacacaccagaagag -3'
(R):5'- TAGACAGAGTCCTCGGCTACTG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation