Incidental Mutation 'R5703:Ndrg2'
ID 451810
Institutional Source Beutler Lab
Gene Symbol Ndrg2
Ensembl Gene ENSMUSG00000004558
Gene Name N-myc downstream regulated gene 2
Synonyms Ndr2
MMRRC Submission 043183-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.483) question?
Stock # R5703 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 52142728-52151461 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 52147579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004673] [ENSMUST00000004673] [ENSMUST00000111632] [ENSMUST00000111632] [ENSMUST00000226184] [ENSMUST00000226528] [ENSMUST00000228164] [ENSMUST00000228164] [ENSMUST00000227237] [ENSMUST00000227237] [ENSMUST00000227402] [ENSMUST00000227402]
AlphaFold Q9QYG0
Predicted Effect probably null
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 null
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 null
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 probably null
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 probably null
Transcript: ENSMUST00000226528
Predicted Effect probably null
Transcript: ENSMUST00000228164
Predicted Effect probably null
Transcript: ENSMUST00000228164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228620
Predicted Effect probably null
Transcript: ENSMUST00000227237
Predicted Effect probably null
Transcript: ENSMUST00000227237
Predicted Effect probably null
Transcript: ENSMUST00000227402
Predicted Effect probably null
Transcript: ENSMUST00000227402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228173
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226698
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T A 1: 25,459,640 (GRCm39) N605I probably damaging Het
Btd C T 14: 31,389,004 (GRCm39) R242* probably null Het
Cdc42bpg A G 19: 6,372,703 (GRCm39) D1502G possibly damaging Het
Chst2 A G 9: 95,286,985 (GRCm39) F454L probably damaging Het
Col16a1 G A 4: 129,947,092 (GRCm39) A146T probably damaging Het
Cyp3a11 A T 5: 145,797,183 (GRCm39) S399T probably benign Het
Dspp C T 5: 104,324,917 (GRCm39) H427Y possibly damaging Het
Dtx4 A T 19: 12,459,574 (GRCm39) M410K possibly damaging Het
Ecpas A T 4: 58,877,171 (GRCm39) probably null Het
Epb41l2 C T 10: 25,317,665 (GRCm39) R61W probably damaging Het
Gbp6 T C 5: 105,421,147 (GRCm39) K553E probably benign Het
Git1 CCG C 11: 77,395,494 (GRCm39) probably null Het
Gm13199 C T 2: 5,867,259 (GRCm39) probably benign Het
Gramd2a G A 9: 59,615,299 (GRCm39) G13R probably benign Het
Hoxa2 G T 6: 52,140,243 (GRCm39) Q248K probably damaging Het
Hycc1 A T 5: 24,185,577 (GRCm39) probably null Het
Krt33b T C 11: 99,916,374 (GRCm39) T228A probably benign Het
Loxhd1 A G 18: 77,444,573 (GRCm39) E324G probably damaging Het
Map3k20 A G 2: 72,232,514 (GRCm39) N390S probably benign Het
Mroh7 A G 4: 106,565,757 (GRCm39) Y126H possibly damaging Het
Muc4 G A 16: 32,555,059 (GRCm39) W15* probably null Het
Ntsr1 T C 2: 180,142,226 (GRCm39) S6P probably damaging Het
Or5m10 T C 2: 85,717,783 (GRCm39) I213T probably benign Het
Or5p70 G A 7: 107,994,707 (GRCm39) V127I probably benign Het
Pcdhb6 A T 18: 37,467,753 (GRCm39) T225S probably benign Het
Rfng C A 11: 120,672,842 (GRCm39) V294L probably benign Het
Scml4 C T 10: 42,741,566 (GRCm39) probably benign Het
Slc5a2 A G 7: 127,869,787 (GRCm39) I407V possibly damaging Het
Strc T C 2: 121,201,295 (GRCm39) T1267A probably benign Het
Tanc1 T C 2: 59,626,341 (GRCm39) V566A probably damaging Het
Tas1r2 T C 4: 139,394,647 (GRCm39) S468P probably damaging Het
Tenm2 T A 11: 35,914,626 (GRCm39) T2304S probably benign Het
Tirap A T 9: 35,100,054 (GRCm39) L210Q probably damaging Het
Vav3 A T 3: 109,248,557 (GRCm39) Q68L probably benign Het
Vmn2r54 C T 7: 12,363,594 (GRCm39) S433N probably benign Het
Wars1 A T 12: 108,841,047 (GRCm39) Y244N probably damaging Het
Zc3h6 A G 2: 128,835,372 (GRCm39) probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- TGCCCTTCCTAACAATCCAGG -3'
(R):5'- AAGAATGAGTTCCTTACTAAGCAGG -3'

Sequencing Primer
(F):5'- TTCCTAACAATCCAGGTGAAAAAG -3'
(R):5'- CCTTACTAAGCAGGGGTGTG -3'
Posted On 2017-01-03