Incidental Mutation 'IGL02261:Ndrg2'
| ID |
286755 |
| 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 # |
IGL02261
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
52142728-52151461 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 52148566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 32
(R32C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004673]
[ENSMUST00000111632]
[ENSMUST00000226184]
[ENSMUST00000226528]
[ENSMUST00000227402]
[ENSMUST00000228164]
[ENSMUST00000227237]
|
| AlphaFold |
Q9QYG0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004673
AA Change: R32C
PolyPhen 2
Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000004673
Gene: ENSMUSG00000004558
AA Change: R32C
| 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 damaging
Transcript: ENSMUST00000226184
AA Change: R32C
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226364
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226366
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226528
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227402
AA Change: R32C
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228164
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226698
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228620
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228173
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227237
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambn |
G |
A |
5: 88,604,807 (GRCm39) |
V27M |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,578,015 (GRCm39) |
N222D |
probably damaging |
Het |
| Bcas3 |
A |
T |
11: 85,422,756 (GRCm39) |
T542S |
probably damaging |
Het |
| Btbd1 |
A |
T |
7: 81,455,507 (GRCm39) |
I288N |
probably damaging |
Het |
| Ctps1 |
C |
T |
4: 120,399,776 (GRCm39) |
V500I |
possibly damaging |
Het |
| Cul5 |
A |
C |
9: 53,546,337 (GRCm39) |
V345G |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,421,776 (GRCm39) |
Y215H |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 49,973,566 (GRCm39) |
M67K |
possibly damaging |
Het |
| Egln2 |
C |
T |
7: 26,859,291 (GRCm39) |
E353K |
possibly damaging |
Het |
| Fbxw5 |
G |
T |
2: 25,393,746 (GRCm39) |
A325S |
probably benign |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gaa |
A |
G |
11: 119,172,091 (GRCm39) |
*207W |
probably null |
Het |
| Herc2 |
A |
G |
7: 55,856,492 (GRCm39) |
T3947A |
probably damaging |
Het |
| Ifit2 |
T |
A |
19: 34,551,624 (GRCm39) |
I388N |
probably damaging |
Het |
| Ikzf4 |
T |
C |
10: 128,472,591 (GRCm39) |
T209A |
possibly damaging |
Het |
| Il17re |
A |
T |
6: 113,445,472 (GRCm39) |
|
probably benign |
Het |
| Insrr |
T |
A |
3: 87,708,029 (GRCm39) |
L157Q |
probably damaging |
Het |
| Kcnq2 |
T |
G |
2: 180,723,483 (GRCm39) |
Y631S |
probably damaging |
Het |
| Lrrfip1 |
A |
G |
1: 91,039,890 (GRCm39) |
I198V |
probably benign |
Het |
| Mir7684 |
A |
T |
15: 82,273,345 (GRCm39) |
|
probably benign |
Het |
| Mphosph9 |
C |
T |
5: 124,398,150 (GRCm39) |
E1049K |
probably damaging |
Het |
| Mroh1 |
G |
A |
15: 76,313,360 (GRCm39) |
R611Q |
probably benign |
Het |
| Mynn |
A |
T |
3: 30,661,280 (GRCm39) |
I121F |
possibly damaging |
Het |
| Or2ab1 |
T |
C |
11: 58,488,630 (GRCm39) |
I138T |
probably benign |
Het |
| Or4p7 |
A |
G |
2: 88,221,725 (GRCm39) |
I45V |
probably benign |
Het |
| Ppp1r9b |
A |
G |
11: 94,892,936 (GRCm39) |
E260G |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,291,756 (GRCm39) |
S652G |
probably damaging |
Het |
| Psg25 |
C |
T |
7: 18,255,268 (GRCm39) |
R416H |
probably benign |
Het |
| Pygm |
T |
A |
19: 6,438,301 (GRCm39) |
N171K |
probably damaging |
Het |
| Rbm46 |
A |
T |
3: 82,771,723 (GRCm39) |
D297E |
possibly damaging |
Het |
| Selenov |
T |
A |
7: 27,990,004 (GRCm39) |
T167S |
probably benign |
Het |
| Serpina10 |
T |
C |
12: 103,583,208 (GRCm39) |
Y358C |
probably damaging |
Het |
| Slc27a3 |
T |
C |
3: 90,295,002 (GRCm39) |
R352G |
probably benign |
Het |
| Snx33 |
T |
C |
9: 56,833,862 (GRCm39) |
D69G |
probably benign |
Het |
| St8sia2 |
G |
T |
7: 73,616,594 (GRCm39) |
P127H |
probably damaging |
Het |
| Thbd |
T |
C |
2: 148,248,401 (GRCm39) |
K489R |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,767,049 (GRCm39) |
C3039S |
probably damaging |
Het |
| Vmn1r167 |
T |
C |
7: 23,204,261 (GRCm39) |
M252V |
probably benign |
Het |
| Xdh |
A |
G |
17: 74,220,960 (GRCm39) |
S590P |
possibly damaging |
Het |
| Zfp827 |
G |
A |
8: 79,906,708 (GRCm39) |
V907I |
probably damaging |
Het |
|
| Other mutations in Ndrg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02645:Ndrg2
|
APN |
14 |
52,143,979 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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