Incidental Mutation 'R1290:Neurod2'
ID |
150761 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neurod2
|
Ensembl Gene |
ENSMUSG00000038255 |
Gene Name |
neurogenic differentiation 2 |
Synonyms |
Ndrf, bHLHa1 |
MMRRC Submission |
039356-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.792)
|
Stock # |
R1290 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
98216241-98220471 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 98218114 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 350
(V350E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041373
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041685]
|
AlphaFold |
Q62414 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041685
AA Change: V350E
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000041373 Gene: ENSMUSG00000038255 AA Change: V350E
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfrp1 |
C |
T |
2: 181,006,397 (GRCm39) |
|
probably null |
Het |
Borcs5 |
A |
G |
6: 134,621,331 (GRCm39) |
D34G |
possibly damaging |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Efl1 |
T |
C |
7: 82,320,936 (GRCm39) |
V123A |
probably damaging |
Het |
Exd2 |
T |
A |
12: 80,531,100 (GRCm39) |
L99Q |
probably benign |
Het |
Fnip2 |
T |
C |
3: 79,373,000 (GRCm39) |
D1026G |
probably damaging |
Het |
Gprin3 |
A |
G |
6: 59,331,449 (GRCm39) |
F286S |
possibly damaging |
Het |
Gramd1b |
A |
G |
9: 40,228,117 (GRCm39) |
|
probably null |
Het |
Ints1 |
A |
T |
5: 139,757,165 (GRCm39) |
L417* |
probably null |
Het |
Iqgap2 |
A |
T |
13: 95,805,021 (GRCm39) |
V845E |
probably damaging |
Het |
Kcnh3 |
G |
A |
15: 99,125,001 (GRCm39) |
|
probably null |
Het |
Mbd1 |
T |
C |
18: 74,402,557 (GRCm39) |
S20P |
possibly damaging |
Het |
Mef2c |
A |
T |
13: 83,810,478 (GRCm39) |
T375S |
probably benign |
Het |
Mmp16 |
A |
T |
4: 18,051,725 (GRCm39) |
N238I |
probably damaging |
Het |
P3h2 |
C |
T |
16: 25,805,953 (GRCm39) |
E297K |
probably damaging |
Het |
Pcdhb1 |
A |
G |
18: 37,398,283 (GRCm39) |
H78R |
possibly damaging |
Het |
Slc22a14 |
A |
C |
9: 119,007,518 (GRCm39) |
L297R |
probably damaging |
Het |
Slc22a8 |
G |
A |
19: 8,587,275 (GRCm39) |
G445D |
probably damaging |
Het |
Spink5 |
A |
G |
18: 44,140,778 (GRCm39) |
D659G |
probably damaging |
Het |
St6gal1 |
A |
G |
16: 23,140,411 (GRCm39) |
Q194R |
probably benign |
Het |
Tas2r104 |
A |
T |
6: 131,661,808 (GRCm39) |
C300* |
probably null |
Het |
Ttc6 |
G |
A |
12: 57,707,199 (GRCm39) |
S702N |
probably benign |
Het |
Wnk4 |
C |
G |
11: 101,167,166 (GRCm39) |
|
probably benign |
Het |
Zfyve28 |
A |
T |
5: 34,356,145 (GRCm39) |
D785E |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAGATCCCCAGAGATGCTCTCCAC -3'
(R):5'- TCCGAGTACGAGGGTCCACTCAGTC -3'
Sequencing Primer
(F):5'- TGCTCTCCACGAGAGAAGG -3'
(R):5'- GTCCACTCAGTCCCCCG -3'
|
Posted On |
2014-01-29 |