Incidental Mutation 'IGL02661:Neurod2'
| ID |
302558 |
| 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 # |
IGL02661
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
98216241-98220471 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98218405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 253
(Q253R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041685]
|
| AlphaFold |
Q62414 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041685
AA Change: Q253R
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000041373
Gene: ENSMUSG00000038255
AA Change: Q253R
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034E13Rik |
G |
T |
18: 52,793,566 (GRCm39) |
W33L |
probably damaging |
Het |
| Adam34 |
A |
T |
8: 44,104,572 (GRCm39) |
C358S |
probably damaging |
Het |
| Ak5 |
C |
A |
3: 152,169,593 (GRCm39) |
V561F |
probably benign |
Het |
| Ap1s1 |
T |
C |
5: 137,066,327 (GRCm39) |
D158G |
probably benign |
Het |
| Bard1 |
A |
G |
1: 71,114,469 (GRCm39) |
S171P |
probably damaging |
Het |
| Bsn |
A |
C |
9: 107,984,135 (GRCm39) |
Y534* |
probably null |
Het |
| Clcn4 |
A |
T |
7: 7,294,730 (GRCm39) |
|
probably null |
Het |
| Cyp2j7 |
T |
C |
4: 96,124,887 (GRCm39) |
T4A |
probably benign |
Het |
| Dnajc10 |
T |
A |
2: 80,157,084 (GRCm39) |
|
probably benign |
Het |
| Dtl |
G |
T |
1: 191,273,483 (GRCm39) |
T475N |
probably benign |
Het |
| Eif3m |
T |
C |
2: 104,835,314 (GRCm39) |
Y120C |
probably damaging |
Het |
| Gab1 |
A |
G |
8: 81,515,566 (GRCm39) |
S251P |
probably damaging |
Het |
| Gba1 |
T |
A |
3: 89,110,834 (GRCm39) |
V14E |
probably benign |
Het |
| Ggcx |
C |
T |
6: 72,395,343 (GRCm39) |
P145S |
possibly damaging |
Het |
| Gm13889 |
G |
A |
2: 93,787,024 (GRCm39) |
T150I |
probably benign |
Het |
| Gm4978 |
C |
A |
9: 69,358,180 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,762,821 (GRCm39) |
D850G |
probably damaging |
Het |
| Hspa1l |
A |
G |
17: 35,196,251 (GRCm39) |
I97V |
probably benign |
Het |
| Ighv1-4 |
T |
G |
12: 114,450,850 (GRCm39) |
K86T |
probably damaging |
Het |
| Ints4 |
C |
A |
7: 97,144,912 (GRCm39) |
L175I |
probably benign |
Het |
| Kif13b |
T |
G |
14: 65,005,140 (GRCm39) |
V1144G |
probably benign |
Het |
| Kpna3 |
T |
A |
14: 61,610,398 (GRCm39) |
|
probably benign |
Het |
| Man2c1 |
A |
G |
9: 57,044,766 (GRCm39) |
D371G |
probably damaging |
Het |
| Mtf1 |
T |
C |
4: 124,718,902 (GRCm39) |
L305P |
probably damaging |
Het |
| Myo15b |
T |
G |
11: 115,774,895 (GRCm39) |
V2139G |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,830,321 (GRCm39) |
|
probably benign |
Het |
| Nfkbil1 |
C |
A |
17: 35,439,647 (GRCm39) |
A289S |
probably benign |
Het |
| Or4k35 |
T |
A |
2: 111,099,811 (GRCm39) |
R300S |
possibly damaging |
Het |
| Paxbp1 |
A |
T |
16: 90,827,413 (GRCm39) |
I474K |
probably benign |
Het |
| Pde6c |
A |
T |
19: 38,169,248 (GRCm39) |
I798F |
probably damaging |
Het |
| Pon3 |
T |
A |
6: 5,256,205 (GRCm39) |
T8S |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,587,689 (GRCm39) |
T2525A |
possibly damaging |
Het |
| Rnase10 |
T |
G |
14: 51,247,273 (GRCm39) |
V180G |
probably damaging |
Het |
| Rreb1 |
T |
A |
13: 38,114,778 (GRCm39) |
C712* |
probably null |
Het |
| Scamp2 |
T |
C |
9: 57,494,697 (GRCm39) |
|
probably benign |
Het |
| Serpina3i |
A |
T |
12: 104,231,515 (GRCm39) |
K51* |
probably null |
Het |
| Smyd4 |
C |
A |
11: 75,281,767 (GRCm39) |
C413* |
probably null |
Het |
| Spata2 |
C |
T |
2: 167,325,281 (GRCm39) |
V513M |
probably damaging |
Het |
| Sri |
T |
A |
5: 8,113,252 (GRCm39) |
|
probably benign |
Het |
| Urah |
A |
T |
7: 140,417,618 (GRCm39) |
K119M |
probably damaging |
Het |
| Wdr19 |
C |
T |
5: 65,403,151 (GRCm39) |
T1005I |
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 |
|
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