Incidental Mutation 'R3522:Ndrg3'
ID267514
Institutional Source Beutler Lab
Gene Symbol Ndrg3
Ensembl Gene ENSMUSG00000027634
Gene NameN-myc downstream regulated gene 3
Synonyms4833415O14Rik, Ndr3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R3522 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location156927345-156992056 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 156944027 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 164 (D164G)
Ref Sequence ENSEMBL: ENSMUSP00000105185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069600] [ENSMUST00000072298] [ENSMUST00000109558]
Predicted Effect possibly damaging
Transcript: ENSMUST00000069600
AA Change: D164G

PolyPhen 2 Score 0.749 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000070052
Gene: ENSMUSG00000027634
AA Change: D164G

DomainStartEndE-ValueType
Pfam:Ndr 32 317 1.1e-129 PFAM
low complexity region 335 359 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000072298
AA Change: D164G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000072144
Gene: ENSMUSG00000027634
AA Change: D164G

DomainStartEndE-ValueType
Pfam:Ndr 32 317 1.9e-129 PFAM
Pfam:Abhydrolase_6 58 305 1.6e-13 PFAM
low complexity region 322 346 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109558
AA Change: D164G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105185
Gene: ENSMUSG00000027634
AA Change: D164G

DomainStartEndE-ValueType
Pfam:Ndr 32 252 1.8e-99 PFAM
Pfam:Abhydrolase_6 55 237 6.1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156651
Meta Mutation Damage Score 0.37 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (72/72)
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in lethality before weaning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931409K22Rik A G 5: 24,549,626 probably null Het
Ankrd35 A G 3: 96,685,062 E888G probably damaging Het
Arhgef10 T C 8: 14,954,918 F150S probably damaging Het
Atp10d G T 5: 72,239,157 R235L probably benign Het
Cacna1b A G 2: 24,763,043 V2A possibly damaging Het
Cand1 A T 10: 119,239,197 L15Q probably benign Het
Cavin3 C A 7: 105,481,143 G154V probably benign Het
Ccdc73 A T 2: 104,991,485 D593V probably damaging Het
Cdk5rap2 T C 4: 70,250,410 K161E probably damaging Het
Chil4 A T 3: 106,203,740 N279K probably benign Het
Chst13 T G 6: 90,318,263 D56A probably damaging Het
Cnn1 C A 9: 22,099,368 H5N probably benign Het
Cpsf4l T A 11: 113,702,493 K88N probably damaging Het
Ctnnbl1 G T 2: 157,871,193 probably null Het
Dnah7a A C 1: 53,618,116 F834V probably damaging Het
Fbxo41 A G 6: 85,484,181 S182P probably benign Het
Fkbp5 T C 17: 28,415,996 T180A probably benign Het
Flg2 T A 3: 93,220,027 I2082N unknown Het
Gm4968 A G 6: 127,233,762 noncoding transcript Het
Gpc5 T A 14: 116,524,335 H612Q probably benign Het
Gsg1 A T 6: 135,241,253 V212D probably damaging Het
Hipk1 A G 3: 103,744,114 V1111A probably damaging Het
Hormad1 A T 3: 95,576,285 Q136L probably benign Het
Ifi35 T A 11: 101,457,685 S147R probably benign Het
Iqgap3 C T 3: 88,090,782 A282V probably null Het
Jmy T C 13: 93,454,050 D515G probably damaging Het
Kctd10 G A 5: 114,374,923 R64C probably damaging Het
Kidins220 T C 12: 24,990,758 V121A probably damaging Het
Lcn3 G A 2: 25,766,121 V63M possibly damaging Het
Lmx1b T A 2: 33,639,531 Y72F probably benign Het
Lrp1 T C 10: 127,553,555 D3164G probably damaging Het
Mdh1b C T 1: 63,719,768 V222M probably damaging Het
Mst1 T C 9: 108,081,503 probably benign Het
Myo7b C A 18: 32,010,079 V189F probably damaging Het
Ndc1 T C 4: 107,393,158 S533P probably damaging Het
Nol11 C T 11: 107,173,628 C500Y possibly damaging Het
Nsd3 A G 8: 25,706,614 N1208D probably benign Het
Nup155 C T 15: 8,156,678 probably benign Het
Olfr768 A G 10: 129,093,842 I44T possibly damaging Het
Olfr911-ps1 A G 9: 38,523,785 T18A probably damaging Het
Olfr921 A T 9: 38,775,720 D155V possibly damaging Het
Olfr988 A T 2: 85,353,003 C308S probably benign Het
Phf3 A G 1: 30,805,603 L1425P probably damaging Het
Pla2r1 A G 2: 60,448,906 Y777H probably damaging Het
Pld1 A G 3: 28,031,247 E184G probably damaging Het
Plxna1 T C 6: 89,337,353 probably null Het
Ptgfrn T C 3: 101,043,402 E865G probably damaging Het
Ptpn13 G T 5: 103,589,854 probably benign Het
Pygb G T 2: 150,828,553 V763F probably benign Het
Ros1 A C 10: 52,090,995 Y1705* probably null Het
Sec61a2 A G 2: 5,893,216 F5L probably benign Het
Skint5 A G 4: 113,756,905 probably null Het
Sntg2 A G 12: 30,312,567 V60A probably damaging Het
Sppl2a A G 2: 126,920,322 C280R possibly damaging Het
Srrm4 A C 5: 116,446,544 M1R probably null Het
Sult1c1 T C 17: 53,972,015 E91G probably damaging Het
Themis2 C G 4: 132,785,595 R440P probably damaging Het
Tmem229a A G 6: 24,955,059 L232P probably benign Het
Trappc1 T C 11: 69,324,422 F43L probably damaging Het
Trappc11 A T 8: 47,498,673 Y982N possibly damaging Het
Trpv6 A T 6: 41,627,405 M139K probably damaging Het
Txnrd3 A G 6: 89,663,075 probably null Het
Vmn1r184 T A 7: 26,267,583 Y251* probably null Het
Vmn1r216 A G 13: 23,099,374 N76D possibly damaging Het
Vmn1r71 C A 7: 10,747,865 V233F probably benign Het
Vps13a A C 19: 16,766,493 probably benign Het
Vwa5b2 A G 16: 20,601,608 S756G probably damaging Het
Wdr36 T A 18: 32,861,485 probably null Het
Wdr86 A G 5: 24,718,307 V129A probably benign Het
Zfyve9 A G 4: 108,719,743 L47S probably benign Het
Other mutations in Ndrg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02793:Ndrg3 APN 2 156950032 critical splice donor site probably null
R0277:Ndrg3 UTSW 2 156934935 utr 3 prime probably benign
R1335:Ndrg3 UTSW 2 156946008 splice site probably benign
R1370:Ndrg3 UTSW 2 156938650 missense probably damaging 1.00
R3236:Ndrg3 UTSW 2 156944037 missense probably damaging 0.97
R3401:Ndrg3 UTSW 2 156948288 missense probably damaging 1.00
R3403:Ndrg3 UTSW 2 156948288 missense probably damaging 1.00
R4282:Ndrg3 UTSW 2 156948294 missense possibly damaging 0.80
R5256:Ndrg3 UTSW 2 156931205 unclassified probably benign
R5894:Ndrg3 UTSW 2 156928778 missense probably benign 0.13
R6399:Ndrg3 UTSW 2 156940374 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGTTGCACACCTAAAACCTTTCG -3'
(R):5'- ATAGCACGTCTCTGCAGTCTTC -3'

Sequencing Primer
(F):5'- ACCTAAAACCTTTCGAGCGGGG -3'
(R):5'- TCCTTTCAGACATGAGGCACTGAG -3'
Posted On2015-02-18