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) question?
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

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 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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