Incidental Mutation 'IGL01752:Neurod2'
| ID |
278847 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Neurod2
|
| Ensembl Gene |
ENSMUSG00000038255 |
| Gene Name |
neurogenic differentiation 2 |
| Synonyms |
Ndrf, bHLHa1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.804)
|
| Stock # |
IGL01752
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
98216241-98220471 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98218201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 321
(E321G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041685]
|
| AlphaFold |
Q62414 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041685
AA Change: E321G
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000041373
Gene: ENSMUSG00000038255
AA Change: E321G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
111 |
N/A |
INTRINSIC |
|
HLH
|
128 |
180 |
4.19e-17 |
SMART |
|
Pfam:Neuro_bHLH
|
181 |
311 |
5.7e-43 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 neuroD family of neurogenic basic helix-loop-helix (bHLH) proteins. Expression of this gene can induce transcription from neuron-specific promoters, such as the GAP-43 promoter, which contain a specific DNA sequence known as an E-box. The product of the human gene can induce neurogenic differentiation in non-neuronal cells in Xenopus embryos, and is thought to play a role in the determination and maintenance of neuronal cell fates. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation show elevated neuronal apoptosis resulting in ataxia, incoordination, elevated seizure susceptibility, and death by 35 days. Heterozygotes are moderately affected, and adults are subject to unexplained death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
C |
A |
10: 85,490,366 (GRCm39) |
Q1011K |
probably damaging |
Het |
| Akap11 |
A |
T |
14: 78,747,318 (GRCm39) |
|
probably null |
Het |
| Cdh4 |
A |
T |
2: 179,532,677 (GRCm39) |
N713I |
probably damaging |
Het |
| Cdkl4 |
T |
A |
17: 80,851,043 (GRCm39) |
|
probably benign |
Het |
| Ddx21 |
A |
G |
10: 62,423,286 (GRCm39) |
S639P |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,902,512 (GRCm39) |
|
probably benign |
Het |
| Fan1 |
G |
A |
7: 64,022,542 (GRCm39) |
T237M |
probably benign |
Het |
| Fbn2 |
T |
A |
18: 58,209,049 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
T |
C |
4: 141,700,210 (GRCm39) |
K347E |
possibly damaging |
Het |
| Gucy2c |
C |
A |
6: 136,747,106 (GRCm39) |
A118S |
probably benign |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Lox |
A |
G |
18: 52,653,926 (GRCm39) |
V390A |
possibly damaging |
Het |
| Lyn |
A |
T |
4: 3,743,286 (GRCm39) |
M69L |
probably benign |
Het |
| Mrgprb5 |
A |
G |
7: 47,818,415 (GRCm39) |
F107L |
probably benign |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Pcnx3 |
T |
A |
19: 5,715,365 (GRCm39) |
K1962* |
probably null |
Het |
| Pde3a |
T |
C |
6: 141,433,339 (GRCm39) |
|
probably benign |
Het |
| Phf10 |
A |
G |
17: 15,175,212 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,101,267 (GRCm39) |
E2257G |
possibly damaging |
Het |
| Rock1 |
A |
G |
18: 10,079,113 (GRCm39) |
|
probably null |
Het |
| Slc4a11 |
T |
G |
2: 130,530,065 (GRCm39) |
T238P |
probably damaging |
Het |
| Ssu2 |
T |
A |
6: 112,352,553 (GRCm39) |
K279N |
probably damaging |
Het |
| Tead3 |
A |
T |
17: 28,552,568 (GRCm39) |
I275N |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,575,137 (GRCm39) |
E25252G |
probably damaging |
Het |
| Twsg1 |
T |
C |
17: 66,236,779 (GRCm39) |
T84A |
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,306,232 (GRCm39) |
K127M |
probably damaging |
Het |
| Unc13c |
A |
T |
9: 73,839,093 (GRCm39) |
M586K |
probably benign |
Het |
| Vmn1r195 |
G |
T |
13: 22,463,421 (GRCm39) |
C297F |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,855,510 (GRCm39) |
I2525N |
probably damaging |
Het |
| Zdhhc2 |
G |
A |
8: 40,926,042 (GRCm39) |
A346T |
probably benign |
Het |
| Zfp52 |
T |
G |
17: 21,780,412 (GRCm39) |
C87G |
probably benign |
Het |
|
| Other mutations in Neurod2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00897:Neurod2
|
APN |
11 |
98,218,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01751:Neurod2
|
APN |
11 |
98,218,201 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02661:Neurod2
|
APN |
11 |
98,218,405 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
hesitate
|
UTSW |
11 |
98,218,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5181_Neurod2_559
|
UTSW |
11 |
98,218,204 (GRCm39) |
missense |
probably benign |
0.43 |
|
selection
|
UTSW |
11 |
98,218,147 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4362001:Neurod2
|
UTSW |
11 |
98,218,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0904:Neurod2
|
UTSW |
11 |
98,218,147 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0989:Neurod2
|
UTSW |
11 |
98,218,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1290:Neurod2
|
UTSW |
11 |
98,218,114 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1564:Neurod2
|
UTSW |
11 |
98,218,250 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1712:Neurod2
|
UTSW |
11 |
98,218,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1901:Neurod2
|
UTSW |
11 |
98,218,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2129:Neurod2
|
UTSW |
11 |
98,218,414 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2267:Neurod2
|
UTSW |
11 |
98,218,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3754:Neurod2
|
UTSW |
11 |
98,218,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4421:Neurod2
|
UTSW |
11 |
98,219,026 (GRCm39) |
nonsense |
probably null |
|
|
R5067:Neurod2
|
UTSW |
11 |
98,218,063 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5181:Neurod2
|
UTSW |
11 |
98,218,204 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7922:Neurod2
|
UTSW |
11 |
98,218,454 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7976:Neurod2
|
UTSW |
11 |
98,218,023 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8692:Neurod2
|
UTSW |
11 |
98,218,960 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8842:Neurod2
|
UTSW |
11 |
98,218,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9716:Neurod2
|
UTSW |
11 |
98,218,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation