Incidental Mutation 'IGL02645:Ndrg2'
ID301915
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 #IGL02645
Quality Score
Status
Chromosome14
Chromosomal Location51905271-51914158 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 51906522 bp
ZygosityHeterozygous
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]
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

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 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

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 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: ENSMUST00000226698
Predicted Effect probably benign
Transcript: ENSMUST00000227237
Predicted Effect probably benign
Transcript: ENSMUST00000227402
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik A G 4: 41,517,080 V28A probably damaging Het
Ang4 T C 14: 51,764,347 Y48C probably damaging Het
Aox2 T A 1: 58,334,724 M848K probably damaging Het
Apol7c A T 15: 77,528,883 S56T probably benign Het
Asic4 G A 1: 75,473,354 probably benign Het
Asxl1 A G 2: 153,392,857 K162R possibly damaging Het
BC053393 A G 11: 46,586,220 R167G probably benign Het
Car12 T A 9: 66,747,679 H130Q probably benign Het
Cars T C 7: 143,557,909 E737G probably damaging Het
Ccdc141 G A 2: 77,074,867 R412* probably null Het
Cd36 T C 5: 17,785,880 T421A probably benign Het
Clasp2 T G 9: 113,890,061 M758R probably damaging Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Ebf4 A G 2: 130,361,841 K471E probably damaging Het
Fat2 T A 11: 55,282,828 D2353V probably damaging Het
Gm10136 A G 19: 29,003,740 probably benign Het
Intu A G 3: 40,701,272 I930V probably benign Het
Nhs A G X: 162,159,058 S111P probably benign Het
Nme8 T A 13: 19,660,585 L111F probably damaging Het
Nol8 T A 13: 49,665,471 probably null Het
Olfr1148 C T 2: 87,833,615 T192M probably benign Het
Olfr1221 T C 2: 89,111,619 R298G probably benign Het
Olfr1249 T C 2: 89,630,335 T188A probably benign Het
Olfr1511 T A 14: 52,390,501 T91S possibly damaging Het
Pcdhac2 G A 18: 37,145,239 G424D probably damaging Het
Pex3 T G 10: 13,546,429 E42D possibly damaging Het
Plxnb1 C T 9: 109,114,243 probably benign Het
Rpe65 T A 3: 159,606,491 I209N probably damaging Het
Rsl1 T A 13: 67,182,209 F240L probably benign Het
Rttn A T 18: 89,110,686 I1921F probably benign Het
Scn3a A T 2: 65,514,527 F539Y probably benign Het
Secisbp2 T A 13: 51,682,460 M767K probably damaging Het
Sipa1l3 C T 7: 29,328,980 probably null Het
Slfn8 T C 11: 83,003,554 N753S possibly damaging Het
Sympk T G 7: 19,052,424 V984G probably damaging Het
Tacr3 A T 3: 134,861,182 D272V possibly damaging Het
Tnpo3 G T 6: 29,562,900 S606* probably null Het
Zfp804a T C 2: 82,053,876 L29P possibly damaging Het
Zfp94 C T 7: 24,303,754 G88R probably benign Het
Other mutations in Ndrg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02261:Ndrg2 APN 14 51911109 missense probably damaging 0.99
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
Posted On2015-04-16