Incidental Mutation 'R3754:Neurod2'
| ID |
271361 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3754 (G1)
|
| Quality Score |
142 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
98216241-98220471 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98218526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 213
(S213P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041685]
|
| AlphaFold |
Q62414 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041685
AA Change: S213P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041373
Gene: ENSMUSG00000038255
AA Change: S213P
| 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: 99.0%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.1%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap3 |
T |
C |
4: 135,956,766 (GRCm39) |
|
probably null |
Het |
| Atp12a |
G |
A |
14: 56,610,045 (GRCm39) |
V182I |
probably benign |
Het |
| Gad2 |
A |
T |
2: 22,571,352 (GRCm39) |
D430V |
possibly damaging |
Het |
| Hr |
A |
G |
14: 70,805,264 (GRCm39) |
E1002G |
probably damaging |
Het |
| Itpkc |
G |
T |
7: 26,927,857 (GRCm39) |
P19Q |
probably damaging |
Het |
| Lrrc72 |
A |
G |
12: 36,262,567 (GRCm39) |
S42P |
probably benign |
Het |
| Med1 |
A |
G |
11: 98,057,548 (GRCm39) |
V318A |
possibly damaging |
Het |
| Myef2l |
G |
A |
3: 10,153,575 (GRCm39) |
V115I |
possibly damaging |
Het |
| Nek11 |
A |
T |
9: 105,191,917 (GRCm39) |
N164K |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,391,782 (GRCm39) |
N179D |
probably damaging |
Het |
| Nr2f2 |
T |
C |
7: 70,007,769 (GRCm39) |
I238V |
probably benign |
Het |
| Rpl37 |
C |
A |
15: 5,146,770 (GRCm39) |
T2K |
possibly damaging |
Het |
| Slf2 |
A |
G |
19: 44,961,676 (GRCm39) |
D1065G |
probably benign |
Het |
| Smim5 |
T |
C |
11: 115,796,549 (GRCm39) |
C57R |
probably damaging |
Het |
| Soat2 |
T |
A |
15: 102,065,513 (GRCm39) |
V236D |
probably damaging |
Het |
| Teddm3 |
C |
T |
16: 20,971,898 (GRCm39) |
D224N |
possibly damaging |
Het |
| Tm2d2 |
G |
A |
8: 25,510,494 (GRCm39) |
V118I |
probably damaging |
Het |
| Ttc22 |
C |
A |
4: 106,496,278 (GRCm39) |
R443S |
probably damaging |
Het |
| Upf1 |
A |
G |
8: 70,792,464 (GRCm39) |
I368T |
probably benign |
Het |
| Xrn1 |
G |
T |
9: 95,849,841 (GRCm39) |
D129Y |
probably damaging |
Het |
| Zfp109 |
A |
G |
7: 23,929,181 (GRCm39) |
M76T |
probably benign |
Het |
| Znrf1 |
G |
A |
8: 112,345,843 (GRCm39) |
V76M |
probably damaging |
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 |
|
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 |
|
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'- GTACTCGGAGCTGTTGTAGTCC -3'
(R):5'- AGCTGTCCAAGATCGAGACC -3'
Sequencing Primer
(F):5'- GCGTACAGCGTCTCGTAG -3'
(R):5'- TCCAAGATCGAGACCCTGCG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation