Incidental Mutation 'R9220:Ndrg1'
ID 699428
Institutional Source Beutler Lab
Gene Symbol Ndrg1
Ensembl Gene ENSMUSG00000005125
Gene Name N-myc downstream regulated gene 1
Synonyms DRG1, Ndrl, PROXY1, Tdd5, Ndr1, CMT4D, TDD5, CAP43
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9220 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 66801167-66841489 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 66805711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000005256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005256] [ENSMUST00000166420]
AlphaFold Q62433
Predicted Effect probably null
Transcript: ENSMUST00000005256
SMART Domains Protein: ENSMUSP00000005256
Gene: ENSMUSG00000005125

DomainStartEndE-ValueType
Pfam:Ndr 34 316 4.4e-130 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166420
SMART Domains Protein: ENSMUSP00000127099
Gene: ENSMUSG00000005125

DomainStartEndE-ValueType
Pfam:Ndr 17 132 1.4e-34 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
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 involved in stress responses, hormone responses, cell growth, and differentiation. The encoded protein is necessary for p53-mediated caspase activation and apoptosis. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4D, and expression of this gene may be a prognostic indicator for several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Homozygous null mice exhibit a progressive demyelinating disorder of the peripheral nerves with hindlimb weakness. Mice homozygous for a different knock-out allele exhibit decreased cellular susceptibility to gamma-irradiation and increased susceptibility to spontaneous and induced tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Afg3l2 T G 18: 67,562,266 (GRCm39) I270L probably benign Het
Akap6 A T 12: 53,187,232 (GRCm39) I1549F possibly damaging Het
Ank2 T C 3: 126,737,086 (GRCm39) T2933A unknown Het
Atp1a3 C A 7: 24,696,625 (GRCm39) E309* probably null Het
B4galt2 T C 4: 117,734,399 (GRCm39) Y250C probably damaging Het
Bcl2l13 C A 6: 120,847,735 (GRCm39) T129K possibly damaging Het
Bltp3b A T 10: 89,626,457 (GRCm39) T384S probably benign Het
Clp1 A T 2: 84,554,076 (GRCm39) H364Q probably damaging Het
Ddx27 T C 2: 166,871,433 (GRCm39) V510A probably benign Het
Dicer1 A G 12: 104,679,415 (GRCm39) C521R probably damaging Het
Dnah10 A T 5: 124,871,437 (GRCm39) I2486F probably benign Het
Eml1 C A 12: 108,480,702 (GRCm39) C389* probably null Het
Fabp6 C T 11: 43,489,572 (GRCm39) G23D probably benign Het
Fam3b A T 16: 97,302,111 (GRCm39) S38T probably benign Het
Fsd1l A T 4: 53,679,799 (GRCm39) K166* probably null Het
Galc A G 12: 98,220,523 (GRCm39) S115P probably damaging Het
Gpn1 G A 5: 31,664,884 (GRCm39) A303T probably benign Het
Grid2 A T 6: 63,885,888 (GRCm39) S95C probably damaging Het
Helz T A 11: 107,560,873 (GRCm39) S1312T probably benign Het
Matn2 T C 15: 34,410,325 (GRCm39) F506L possibly damaging Het
Mcemp1 A G 8: 3,717,512 (GRCm39) S148G probably benign Het
Minar1 T A 9: 89,484,398 (GRCm39) D333V probably damaging Het
Nlrp4a A T 7: 26,149,523 (GRCm39) N377Y probably damaging Het
Nox4 C T 7: 86,970,774 (GRCm39) T217I probably benign Het
Or7g21 T C 9: 19,033,193 (GRCm39) F311S possibly damaging Het
Or8b52 A T 9: 38,576,803 (GRCm39) Y112* probably null Het
Phf8-ps T C 17: 33,286,494 (GRCm39) I103V probably benign Het
Plekhd1 T A 12: 80,768,726 (GRCm39) F403Y possibly damaging Het
Plekhg1 T C 10: 3,913,805 (GRCm39) S1231P Het
Plekhg3 T A 12: 76,618,839 (GRCm39) M497K probably benign Het
Rpap1 T C 2: 119,604,669 (GRCm39) H413R probably damaging Het
Rragd A G 4: 32,995,924 (GRCm39) T90A probably damaging Het
Septin9 T C 11: 117,242,396 (GRCm39) M286T probably benign Het
Shpk GACCTTAGCCAGAAGGAGCCTTAGTTCATCAA GA 11: 73,113,996 (GRCm39) probably null Het
Slc22a2 T A 17: 12,838,757 (GRCm39) D528E probably benign Het
Slirp G A 12: 87,494,376 (GRCm39) R47K probably benign Het
Sncg T C 14: 34,096,474 (GRCm39) T22A possibly damaging Het
Tnfrsf21 A G 17: 43,398,801 (GRCm39) S636G probably damaging Het
Unc80 T G 1: 66,546,534 (GRCm39) S535R probably damaging Het
Vmn1r149 A T 7: 22,137,378 (GRCm39) S93T probably benign Het
Vps13d A G 4: 144,783,058 (GRCm39) Y3957H Het
Wdr35 T A 12: 9,036,000 (GRCm39) V257E possibly damaging Het
Wscd1 A G 11: 71,662,750 (GRCm39) T264A probably benign Het
Zfp266 G A 9: 20,413,337 (GRCm39) Q108* probably null Het
Zfp62 T A 11: 49,106,075 (GRCm39) S55R probably benign Het
Other mutations in Ndrg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00923:Ndrg1 APN 15 66,814,959 (GRCm39) missense probably damaging 1.00
IGL01419:Ndrg1 APN 15 66,802,900 (GRCm39) missense probably benign 0.01
IGL02618:Ndrg1 APN 15 66,812,086 (GRCm39) missense probably benign 0.03
IGL02869:Ndrg1 APN 15 66,818,346 (GRCm39) missense probably benign 0.01
IGL03206:Ndrg1 APN 15 66,814,936 (GRCm39) nonsense probably null
PIT4377001:Ndrg1 UTSW 15 66,820,288 (GRCm39) missense probably benign
R0328:Ndrg1 UTSW 15 66,815,008 (GRCm39) splice site probably benign
R1102:Ndrg1 UTSW 15 66,816,685 (GRCm39) missense probably damaging 1.00
R1105:Ndrg1 UTSW 15 66,812,080 (GRCm39) missense probably damaging 0.99
R1748:Ndrg1 UTSW 15 66,802,930 (GRCm39) missense possibly damaging 0.55
R1875:Ndrg1 UTSW 15 66,802,940 (GRCm39) missense possibly damaging 0.91
R5214:Ndrg1 UTSW 15 66,831,239 (GRCm39) missense probably damaging 0.99
R5809:Ndrg1 UTSW 15 66,802,699 (GRCm39) unclassified probably benign
R6433:Ndrg1 UTSW 15 66,805,721 (GRCm39) missense probably damaging 1.00
R7104:Ndrg1 UTSW 15 66,818,377 (GRCm39) missense probably damaging 1.00
R7412:Ndrg1 UTSW 15 66,832,382 (GRCm39) start codon destroyed probably null 1.00
R7424:Ndrg1 UTSW 15 66,816,787 (GRCm39) splice site probably null
R7667:Ndrg1 UTSW 15 66,820,243 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACTGGGTGCTGATCCATTCC -3'
(R):5'- TGGTCAAAACTGATTCTGGTCC -3'

Sequencing Primer
(F):5'- CTCATTCAGCCATGTGTGATTG -3'
(R):5'- AACTGATTCTGGTCCCCACGAG -3'
Posted On 2022-02-07