Incidental Mutation 'IGL00897:Neurod2'
| ID |
28468 |
| 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: 0.792)
|
| Stock # |
IGL00897
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
98216241-98220471 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 98218595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 190
(V190M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041685]
|
| AlphaFold |
Q62414 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041685
AA Change: V190M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041373
Gene: ENSMUSG00000038255
AA Change: V190M
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,815,348 (GRCm39) |
|
probably benign |
Het |
| Arsi |
A |
G |
18: 61,045,502 (GRCm39) |
Y64C |
probably damaging |
Het |
| Ascc3 |
A |
T |
10: 50,604,187 (GRCm39) |
E1302D |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,405,145 (GRCm39) |
I1344T |
probably damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,850,882 (GRCm39) |
I924T |
possibly damaging |
Het |
| Ccnb1 |
A |
G |
13: 100,922,419 (GRCm39) |
|
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,254,723 (GRCm39) |
D1304G |
probably benign |
Het |
| Ctsq |
C |
A |
13: 61,185,539 (GRCm39) |
V201F |
probably damaging |
Het |
| Efcab3 |
G |
A |
11: 104,990,847 (GRCm39) |
D293N |
probably damaging |
Het |
| Epb41 |
T |
A |
4: 131,727,508 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
C |
11: 55,180,078 (GRCm39) |
E1421G |
probably damaging |
Het |
| Flt1 |
T |
A |
5: 147,526,664 (GRCm39) |
Y873F |
probably benign |
Het |
| Fos |
C |
T |
12: 85,523,120 (GRCm39) |
T344I |
probably damaging |
Het |
| Gsdme |
A |
G |
6: 50,206,264 (GRCm39) |
|
probably null |
Het |
| Inpp5d |
A |
G |
1: 87,639,836 (GRCm39) |
T846A |
probably benign |
Het |
| Insyn2b |
T |
C |
11: 34,353,011 (GRCm39) |
V351A |
probably benign |
Het |
| Kdm4c |
T |
C |
4: 74,291,921 (GRCm39) |
M846T |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,352,225 (GRCm39) |
F604L |
possibly damaging |
Het |
| Mab21l3 |
C |
A |
3: 101,730,771 (GRCm39) |
R156L |
probably damaging |
Het |
| Mrps9 |
A |
G |
1: 42,944,619 (GRCm39) |
E379G |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,365,518 (GRCm39) |
L119P |
probably damaging |
Het |
| Nprl2 |
T |
G |
9: 107,422,727 (GRCm39) |
N371K |
probably benign |
Het |
| Nr1d2 |
A |
T |
14: 18,214,993 (GRCm38) |
C340S |
probably benign |
Het |
| Nsg1 |
A |
T |
5: 38,302,060 (GRCm39) |
V117D |
probably damaging |
Het |
| Or6c219 |
A |
T |
10: 129,781,780 (GRCm39) |
D50E |
possibly damaging |
Het |
| Or7e168 |
T |
G |
9: 19,719,917 (GRCm39) |
V101G |
probably damaging |
Het |
| Paqr4 |
T |
C |
17: 23,956,544 (GRCm39) |
D273G |
possibly damaging |
Het |
| Plcb4 |
A |
G |
2: 135,813,718 (GRCm39) |
T686A |
probably benign |
Het |
| Ppp1r8 |
G |
A |
4: 132,555,213 (GRCm39) |
A335V |
probably damaging |
Het |
| Slc4a2 |
T |
A |
5: 24,634,557 (GRCm39) |
Y65* |
probably null |
Het |
| Slco3a1 |
A |
T |
7: 74,153,931 (GRCm39) |
Y214N |
probably damaging |
Het |
| Tmem232 |
T |
C |
17: 65,563,569 (GRCm39) |
E608G |
possibly damaging |
Het |
| Vmn1r169 |
A |
T |
7: 23,277,019 (GRCm39) |
Y137F |
probably damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,921 (GRCm39) |
I725T |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,286,007 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Neurod2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01751:Neurod2
|
APN |
11 |
98,218,201 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01752: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 |
2013-04-17 |
Incidental Mutation