Incidental Mutation 'IGL02645:Ndrg2'
| ID |
301915 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ndrg2
|
| Ensembl Gene |
ENSMUSG00000004558 |
| Gene Name |
N-myc downstream regulated gene 2 |
| Synonyms |
Ndr2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.483)
|
| Stock # |
IGL02645
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
52142728-52151461 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 52143979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 300
(M300L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004673]
[ENSMUST00000111632]
[ENSMUST00000226184]
[ENSMUST00000226528]
[ENSMUST00000227237]
[ENSMUST00000227402]
[ENSMUST00000228164]
|
| AlphaFold |
Q9QYG0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004673
AA Change: M314L
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000004673
Gene: ENSMUSG00000004558
AA Change: M314L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ndr
|
40 |
318 |
5.4e-125 |
PFAM |
|
low complexity region
|
323 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
355 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111632
AA Change: M300L
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107259
Gene: ENSMUSG00000004558
AA Change: M300L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ndr
|
26 |
304 |
4.7e-125 |
PFAM |
|
Pfam:Abhydrolase_6
|
58 |
292 |
7.6e-11 |
PFAM |
|
low complexity region
|
309 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
341 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226122
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226184
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226364
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226366
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226528
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228620
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227237
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226698
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227402
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228164
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228173
|
| 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 is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that may play a role in neurite outgrowth. This gene may be involved in glioblastoma carcinogenesis. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele develop various types of tumors, including T-cell lymphomas, and have a shorter lifespan. Homozygotes for a second null allele show vertebral transformations. Homozygotes for a third null allele show reduced astrogliosis and inflammatory response after brain injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang4 |
T |
C |
14: 52,001,804 (GRCm39) |
Y48C |
probably damaging |
Het |
| Aox1 |
T |
A |
1: 58,373,883 (GRCm39) |
M848K |
probably damaging |
Het |
| Apol7c |
A |
T |
15: 77,413,083 (GRCm39) |
S56T |
probably benign |
Het |
| Asic4 |
G |
A |
1: 75,449,998 (GRCm39) |
|
probably benign |
Het |
| Asxl1 |
A |
G |
2: 153,234,777 (GRCm39) |
K162R |
possibly damaging |
Het |
| Car12 |
T |
A |
9: 66,654,961 (GRCm39) |
H130Q |
probably benign |
Het |
| Cars1 |
T |
C |
7: 143,111,646 (GRCm39) |
E737G |
probably damaging |
Het |
| Ccdc141 |
G |
A |
2: 76,905,211 (GRCm39) |
R412* |
probably null |
Het |
| Cd36 |
T |
C |
5: 17,990,878 (GRCm39) |
T421A |
probably benign |
Het |
| Clasp2 |
T |
G |
9: 113,719,129 (GRCm39) |
M758R |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
| Ebf4 |
A |
G |
2: 130,203,761 (GRCm39) |
K471E |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,173,654 (GRCm39) |
D2353V |
probably damaging |
Het |
| Gm10136 |
A |
G |
19: 28,981,140 (GRCm39) |
|
probably benign |
Het |
| Intu |
A |
G |
3: 40,655,702 (GRCm39) |
I930V |
probably benign |
Het |
| Nhs |
A |
G |
X: 160,942,054 (GRCm39) |
S111P |
probably benign |
Het |
| Nme8 |
T |
A |
13: 19,844,755 (GRCm39) |
L111F |
probably damaging |
Het |
| Nol8 |
T |
A |
13: 49,818,947 (GRCm39) |
|
probably null |
Het |
| Or10g1b |
T |
A |
14: 52,627,958 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or12e13 |
C |
T |
2: 87,663,959 (GRCm39) |
T192M |
probably benign |
Het |
| Or4a76 |
T |
C |
2: 89,460,679 (GRCm39) |
T188A |
probably benign |
Het |
| Or4c116 |
T |
C |
2: 88,941,963 (GRCm39) |
R298G |
probably benign |
Het |
| Pcdhac2 |
G |
A |
18: 37,278,292 (GRCm39) |
G424D |
probably damaging |
Het |
| Pex3 |
T |
G |
10: 13,422,173 (GRCm39) |
E42D |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,943,311 (GRCm39) |
|
probably benign |
Het |
| Rpe65 |
T |
A |
3: 159,312,128 (GRCm39) |
I209N |
probably damaging |
Het |
| Rsl1 |
T |
A |
13: 67,330,273 (GRCm39) |
F240L |
probably benign |
Het |
| Rttn |
A |
T |
18: 89,128,810 (GRCm39) |
I1921F |
probably benign |
Het |
| Scn3a |
A |
T |
2: 65,344,871 (GRCm39) |
F539Y |
probably benign |
Het |
| Secisbp2 |
T |
A |
13: 51,836,496 (GRCm39) |
M767K |
probably damaging |
Het |
| Sipa1l3 |
C |
T |
7: 29,028,405 (GRCm39) |
|
probably null |
Het |
| Slfn8 |
T |
C |
11: 82,894,380 (GRCm39) |
N753S |
possibly damaging |
Het |
| Spmip6 |
A |
G |
4: 41,517,080 (GRCm39) |
V28A |
probably damaging |
Het |
| Sympk |
T |
G |
7: 18,786,349 (GRCm39) |
V984G |
probably damaging |
Het |
| Tacr3 |
A |
T |
3: 134,566,943 (GRCm39) |
D272V |
possibly damaging |
Het |
| Timd6 |
A |
G |
11: 46,477,047 (GRCm39) |
R167G |
probably benign |
Het |
| Tnpo3 |
G |
T |
6: 29,562,899 (GRCm39) |
S606* |
probably null |
Het |
| Zfp804a |
T |
C |
2: 81,884,220 (GRCm39) |
L29P |
possibly damaging |
Het |
| Zfp94 |
C |
T |
7: 24,003,179 (GRCm39) |
G88R |
probably benign |
Het |
|
| Other mutations in Ndrg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02261:Ndrg2
|
APN |
14 |
52,148,566 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03226:Ndrg2
|
APN |
14 |
52,144,026 (GRCm39) |
unclassified |
probably benign |
|
|
R0015:Ndrg2
|
UTSW |
14 |
52,147,902 (GRCm39) |
splice site |
probably benign |
|
|
R0015:Ndrg2
|
UTSW |
14 |
52,147,902 (GRCm39) |
splice site |
probably benign |
|
|
R0197:Ndrg2
|
UTSW |
14 |
52,144,460 (GRCm39) |
unclassified |
probably benign |
|
|
R0606:Ndrg2
|
UTSW |
14 |
52,143,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Ndrg2
|
UTSW |
14 |
52,146,119 (GRCm39) |
splice site |
probably benign |
|
|
R1449:Ndrg2
|
UTSW |
14 |
52,145,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1625:Ndrg2
|
UTSW |
14 |
52,144,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3803:Ndrg2
|
UTSW |
14 |
52,148,132 (GRCm39) |
splice site |
probably null |
|
|
R5242:Ndrg2
|
UTSW |
14 |
52,148,541 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5424:Ndrg2
|
UTSW |
14 |
52,146,342 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5568:Ndrg2
|
UTSW |
14 |
52,144,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5703:Ndrg2
|
UTSW |
14 |
52,147,579 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6711:Ndrg2
|
UTSW |
14 |
52,147,782 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7515:Ndrg2
|
UTSW |
14 |
52,146,380 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7689:Ndrg2
|
UTSW |
14 |
52,147,812 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7934:Ndrg2
|
UTSW |
14 |
52,143,661 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9520:Ndrg2
|
UTSW |
14 |
52,146,381 (GRCm39) |
missense |
probably benign |
|
|
R9689:Ndrg2
|
UTSW |
14 |
52,146,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9738:Ndrg2
|
UTSW |
14 |
52,148,238 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Posted On |
2015-04-16 |
Incidental Mutation