Incidental Mutation 'IGL02261:Ndrg2'
ID286755
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndrg2
Ensembl Gene ENSMUSG00000004558
Gene NameN-myc downstream regulated gene 2
SynonymsNdr2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.493) question?
Stock #IGL02261
Quality Score
Status
Chromosome14
Chromosomal Location51905271-51914158 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 51911109 bp
ZygosityHeterozygous
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] [ENSMUST00000227237] [ENSMUST00000227402] [ENSMUST00000228164]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000226698
Predicted Effect probably benign
Transcript: ENSMUST00000227237
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: ENSMUST00000228173
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228620
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn G A 5: 88,456,948 V27M probably damaging Het
Ank1 A G 8: 23,087,999 N222D probably damaging Het
Bcas3 A T 11: 85,531,930 T542S probably damaging Het
Btbd1 A T 7: 81,805,759 I288N probably damaging Het
Ctps C T 4: 120,542,579 V500I possibly damaging Het
Cul5 A C 9: 53,635,037 V345G probably damaging Het
Dchs1 A G 7: 105,772,569 Y215H probably damaging Het
Dmxl1 T A 18: 49,840,499 M67K possibly damaging Het
Egln2 C T 7: 27,159,866 E353K possibly damaging Het
Fbxw5 G T 2: 25,503,734 A325S probably benign Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gaa A G 11: 119,281,265 *207W probably null Het
Herc2 A G 7: 56,206,744 T3947A probably damaging Het
Ifit2 T A 19: 34,574,224 I388N probably damaging Het
Ikzf4 T C 10: 128,636,722 T209A possibly damaging Het
Il17re A T 6: 113,468,511 probably benign Het
Insrr T A 3: 87,800,722 L157Q probably damaging Het
Kcnq2 T G 2: 181,081,690 Y631S probably damaging Het
Lrrfip1 A G 1: 91,112,168 I198V probably benign Het
Mir7684 A T 15: 82,389,144 probably benign Het
Mphosph9 C T 5: 124,260,087 E1049K probably damaging Het
Mroh1 G A 15: 76,429,160 R611Q probably benign Het
Mynn A T 3: 30,607,131 I121F possibly damaging Het
Olfr1178 A G 2: 88,391,381 I45V probably benign Het
Olfr324 T C 11: 58,597,804 I138T probably benign Het
Ppp1r9b A G 11: 95,002,110 E260G probably damaging Het
Psd4 A G 2: 24,401,744 S652G probably damaging Het
Psg25 C T 7: 18,521,343 R416H probably benign Het
Pygm T A 19: 6,388,271 N171K probably damaging Het
Rbm46 A T 3: 82,864,416 D297E possibly damaging Het
Selenov T A 7: 28,290,579 T167S probably benign Het
Serpina10 T C 12: 103,616,949 Y358C probably damaging Het
Slc27a3 T C 3: 90,387,695 R352G probably benign Het
Snx33 T C 9: 56,926,578 D69G probably benign Het
St8sia2 G T 7: 73,966,846 P127H probably damaging Het
Thbd T C 2: 148,406,481 K489R probably benign Het
Ttn A T 2: 76,936,705 C3039S probably damaging Het
Vmn1r167 T C 7: 23,504,836 M252V probably benign Het
Xdh A G 17: 73,913,965 S590P possibly damaging Het
Zfp827 G A 8: 79,180,079 V907I probably damaging Het
Other mutations in Ndrg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02645:Ndrg2 APN 14 51906522 missense possibly damaging 0.87
IGL03226:Ndrg2 APN 14 51906569 unclassified probably benign
R0015:Ndrg2 UTSW 14 51910445 splice site probably benign
R0015:Ndrg2 UTSW 14 51910445 splice site probably benign
R0197:Ndrg2 UTSW 14 51907003 unclassified probably benign
R0606:Ndrg2 UTSW 14 51906217 missense probably damaging 1.00
R0812:Ndrg2 UTSW 14 51908662 splice site probably benign
R1449:Ndrg2 UTSW 14 51908134 missense probably damaging 1.00
R1625:Ndrg2 UTSW 14 51906963 missense probably damaging 1.00
R3803:Ndrg2 UTSW 14 51910675 splice site probably null
R5242:Ndrg2 UTSW 14 51911084 critical splice donor site probably null
R5424:Ndrg2 UTSW 14 51908885 missense probably damaging 0.97
R5568:Ndrg2 UTSW 14 51906963 missense probably damaging 1.00
R5703:Ndrg2 UTSW 14 51910122 critical splice acceptor site probably null
R6711:Ndrg2 UTSW 14 51910325 missense possibly damaging 0.94
R7515:Ndrg2 UTSW 14 51908923 missense probably benign 0.40
R7689:Ndrg2 UTSW 14 51910355 missense possibly damaging 0.53
R7934:Ndrg2 UTSW 14 51906204 missense probably benign 0.01
Posted On2015-04-16