Incidental Mutation 'IGL03226:Ndrg2'
ID |
414863 |
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 # |
IGL03226
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
52142728-52151461 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to A
at 52144026 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153830
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004673]
[ENSMUST00000111632]
[ENSMUST00000226184]
[ENSMUST00000227237]
[ENSMUST00000226528]
[ENSMUST00000227402]
[ENSMUST00000228164]
|
AlphaFold |
Q9QYG0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004673
|
SMART Domains |
Protein: ENSMUSP00000004673 Gene: ENSMUSG00000004558
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 |
probably benign
Transcript: ENSMUST00000111632
|
SMART Domains |
Protein: ENSMUSP00000107259 Gene: ENSMUSG00000004558
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 |
noncoding transcript
Transcript: ENSMUST00000228620
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227237
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226528
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227402
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228173
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228164
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226698
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930012K11Rik |
A |
G |
14: 70,395,058 (GRCm39) |
V32A |
probably damaging |
Het |
Als2 |
T |
C |
1: 59,225,679 (GRCm39) |
T944A |
probably benign |
Het |
Bcat2 |
T |
A |
7: 45,237,778 (GRCm39) |
V348E |
probably damaging |
Het |
Bnip2 |
A |
G |
9: 69,903,456 (GRCm39) |
D36G |
probably benign |
Het |
C2cd5 |
T |
A |
6: 143,018,292 (GRCm39) |
D310V |
possibly damaging |
Het |
Cltc |
G |
A |
11: 86,611,113 (GRCm39) |
T582M |
probably damaging |
Het |
Cplx3 |
A |
T |
9: 57,517,290 (GRCm39) |
Y365N |
probably benign |
Het |
Dync2h1 |
T |
C |
9: 7,125,918 (GRCm39) |
H1896R |
probably benign |
Het |
Efcab5 |
T |
C |
11: 77,028,501 (GRCm39) |
R413G |
possibly damaging |
Het |
Fam131b |
C |
T |
6: 42,295,888 (GRCm39) |
M169I |
possibly damaging |
Het |
Fam241b |
A |
G |
10: 61,945,671 (GRCm39) |
S52P |
probably benign |
Het |
Gpd2 |
G |
A |
2: 57,194,498 (GRCm39) |
|
probably null |
Het |
Gucy1a1 |
T |
A |
3: 82,026,331 (GRCm39) |
Q41L |
probably benign |
Het |
Ifna16 |
T |
C |
4: 88,594,741 (GRCm39) |
D118G |
probably benign |
Het |
Kcnn1 |
T |
C |
8: 71,299,135 (GRCm39) |
|
probably benign |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Lyst |
A |
T |
13: 13,884,144 (GRCm39) |
H2984L |
probably benign |
Het |
Myh7b |
C |
T |
2: 155,462,403 (GRCm39) |
Q369* |
probably null |
Het |
Nalcn |
A |
C |
14: 123,518,527 (GRCm39) |
W1671G |
probably benign |
Het |
Nfia |
C |
A |
4: 97,951,286 (GRCm39) |
P371Q |
probably damaging |
Het |
Or10d5 |
A |
C |
9: 39,861,719 (GRCm39) |
|
probably null |
Het |
Pcdhb22 |
A |
G |
18: 37,652,009 (GRCm39) |
D159G |
probably damaging |
Het |
Plekhm3 |
A |
T |
1: 64,960,959 (GRCm39) |
D432E |
possibly damaging |
Het |
Pramel17 |
T |
A |
4: 101,692,594 (GRCm39) |
T469S |
probably benign |
Het |
Rab2a |
A |
G |
4: 8,606,448 (GRCm39) |
N195S |
probably benign |
Het |
Sbf1 |
A |
G |
15: 89,173,308 (GRCm39) |
Y1764H |
possibly damaging |
Het |
Scap |
A |
G |
9: 110,213,335 (GRCm39) |
T1127A |
possibly damaging |
Het |
Shld2 |
T |
C |
14: 33,990,328 (GRCm39) |
T193A |
probably benign |
Het |
Slc45a2 |
A |
G |
15: 11,022,278 (GRCm39) |
D340G |
probably damaging |
Het |
Tbc1d23 |
A |
T |
16: 57,034,625 (GRCm39) |
L58Q |
probably damaging |
Het |
Tmcc1 |
T |
C |
6: 116,110,937 (GRCm39) |
T119A |
probably damaging |
Het |
Tnfsf10 |
C |
A |
3: 27,389,597 (GRCm39) |
Y219* |
probably null |
Het |
Traip |
G |
A |
9: 107,848,192 (GRCm39) |
R437Q |
probably damaging |
Het |
Tyw3 |
T |
C |
3: 154,293,187 (GRCm39) |
T163A |
possibly damaging |
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 |
IGL02645:Ndrg2
|
APN |
14 |
52,143,979 (GRCm39) |
missense |
possibly damaging |
0.87 |
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 |
2016-08-02 |