Incidental Mutation 'R0197:Ndrg2'
ID23514
Institutional Source Beutler Lab
Gene Symbol Ndrg2
Ensembl Gene ENSMUSG00000004558
Gene NameN-myc downstream regulated gene 2
SynonymsNdr2
MMRRC Submission 038456-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.628) question?
Stock #R0197 (G1)
Quality Score225
Status Validated
Chromosome14
Chromosomal Location51905271-51914158 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 51907003 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004673] [ENSMUST00000111632] [ENSMUST00000226184] [ENSMUST00000226528] [ENSMUST00000227237] [ENSMUST00000227402] [ENSMUST00000228164]
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 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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 92.5%
  • 20x: 75.9%
Validation Efficiency 97% (121/125)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 138,069,871 L1607P probably damaging Het
1700016H13Rik T C 5: 103,648,821 *118W probably null Het
1700061G19Rik A T 17: 56,883,835 N468Y probably benign Het
2610507B11Rik A C 11: 78,269,704 probably benign Het
4930452B06Rik C T 14: 8,518,695 G254R probably damaging Het
Abcc2 A T 19: 43,826,614 R1147* probably null Het
Agap2 A G 10: 127,091,702 T1131A possibly damaging Het
Aldh9a1 A G 1: 167,361,847 D388G probably damaging Het
Ap3d1 G T 10: 80,730,042 A97E probably damaging Het
Arhgef10 T A 8: 14,962,636 V320E probably damaging Het
Baiap2l1 C A 5: 144,266,010 V498L probably damaging Het
Ccdc189 T C 7: 127,584,862 E261G probably damaging Het
Cdh2 T C 18: 16,629,576 N437S probably benign Het
Chd1 C A 17: 15,725,431 N72K probably benign Het
Col4a3bp T A 13: 96,549,287 Y63N probably benign Het
Cstf2t A T 19: 31,084,626 M521L probably benign Het
Dlx5 T C 6: 6,881,619 K90E possibly damaging Het
Dmp1 A G 5: 104,207,630 E32G possibly damaging Het
Espnl T G 1: 91,344,489 Y524D probably damaging Het
Fam20c T C 5: 138,755,724 L30P probably damaging Het
Fat1 G T 8: 45,026,553 A2879S probably benign Het
Gabrg1 A T 5: 70,774,389 V337D probably damaging Het
Gart C A 16: 91,623,403 D851Y possibly damaging Het
Gcc1 T C 6: 28,420,616 H234R probably damaging Het
Gemin6 T A 17: 80,228,095 H161Q probably damaging Het
Glt6d1 A G 2: 25,794,070 I308T probably benign Het
Gm10320 T C 13: 98,491,983 T7A probably benign Het
Gm10912 T C 2: 104,066,530 S5P probably benign Het
Gm13088 C T 4: 143,656,440 E70K possibly damaging Het
Gmpr2 T A 14: 55,672,735 D7E possibly damaging Het
Hc A G 2: 34,984,750 Y1620H probably damaging Het
Hoxa3 T C 6: 52,170,143 probably benign Het
Ift140 A G 17: 25,090,933 T1105A probably benign Het
Kdr G T 5: 75,968,422 T188N possibly damaging Het
Lepr A T 4: 101,752,152 D312V possibly damaging Het
Mcm3 A G 1: 20,810,105 V501A probably damaging Het
Mcur1 T C 13: 43,545,740 Y267C probably damaging Het
Med13 T A 11: 86,307,038 T736S probably benign Het
Med13l T C 5: 118,671,002 probably benign Het
Mroh2a G C 1: 88,246,042 A871P probably damaging Het
Oas3 G A 5: 120,756,145 R39C probably damaging Het
Olfr1258 A G 2: 89,930,201 T131A probably benign Het
Olfr1298 C T 2: 111,645,791 V69I probably benign Het
Olfr272 G A 4: 52,910,849 T315M probably benign Het
Olfr558 T A 7: 102,709,995 H245Q probably damaging Het
Onecut2 T A 18: 64,341,472 S365T possibly damaging Het
Pds5b C A 5: 150,754,431 Q505K probably benign Het
Rfx2 T C 17: 56,803,722 Y88C probably damaging Het
Rpl6 T C 5: 121,208,478 V214A probably benign Het
Samd3 T A 10: 26,271,854 C476S possibly damaging Het
Sfi1 TCGC TC 11: 3,146,254 probably null Het
Shank1 C T 7: 44,352,294 R1146W unknown Het
Smcr8 T C 11: 60,778,115 Y30H probably damaging Het
Smpd4 T A 16: 17,641,597 probably null Het
Strip1 C A 3: 107,614,613 D750Y probably damaging Het
Svep1 T C 4: 58,070,851 K2312E possibly damaging Het
Taf1c A T 8: 119,599,983 I438N probably damaging Het
Tnfaip1 A T 11: 78,530,014 probably benign Het
Unc45b T A 11: 82,940,205 L797Q possibly damaging Het
Usp24 T A 4: 106,407,133 W1754R probably damaging Het
Utp20 G A 10: 88,777,516 P1301L probably benign Het
Vmn2r115 T A 17: 23,359,781 S743T probably damaging Het
Vps41 T G 13: 18,854,663 probably null Het
Vps72 G T 3: 95,122,583 L304F probably damaging Het
Wiz A T 17: 32,356,441 I907N probably damaging Het
Zfp521 T C 18: 13,845,062 T765A probably benign Het
Zfp616 A T 11: 74,085,674 H923L probably damaging Het
Zp2 A T 7: 120,143,576 probably benign Het
Other mutations in Ndrg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02261:Ndrg2 APN 14 51911109 missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- GCCATCTGCTCAGGAAGGAAACAC -3'
(R):5'- TGGACCTTGCCAAGCTGCAAAC -3'

Sequencing Primer
(F):5'- TGGAGATATCAGACGATCCATGC -3'
(R):5'- GCTGCAAACTCGAAAACTCTGG -3'
Posted On2013-04-16