Incidental Mutation 'R7191:Nudcd2'
ID 559605
Institutional Source Beutler Lab
Gene Symbol Nudcd2
Ensembl Gene ENSMUSG00000020328
Gene Name NudC domain containing 2
Synonyms 2700047N05Rik, D11Ertd603e
MMRRC Submission 045274-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # R7191 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 40624494-40630873 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 40627430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 117 (Q117*)
Ref Sequence ENSEMBL: ENSMUSP00000020578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020578] [ENSMUST00000020579] [ENSMUST00000127382]
AlphaFold Q9CQ48
PDB Structure Crystal structure of NudC domain-containing protein 2 (13542905) from Mus musculus at 1.95 A resolution [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000020578
AA Change: Q117*
SMART Domains Protein: ENSMUSP00000020578
Gene: ENSMUSG00000020328
AA Change: Q117*

DomainStartEndE-ValueType
Pfam:CS 17 91 2.1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000020579
SMART Domains Protein: ENSMUSP00000020579
Gene: ENSMUSG00000020330

DomainStartEndE-ValueType
Pfam:HMMR_N 15 339 1.2e-136 PFAM
low complexity region 375 385 N/A INTRINSIC
low complexity region 430 442 N/A INTRINSIC
Blast:MA 452 578 7e-6 BLAST
Pfam:HMMR_C 636 789 4.3e-71 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000127382
AA Change: Q92*
SMART Domains Protein: ENSMUSP00000123991
Gene: ENSMUSG00000020328
AA Change: Q92*

DomainStartEndE-ValueType
Pfam:CS 17 84 4.9e-14 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik T A 16: 21,472,314 (GRCm39) I129F probably benign Het
Actmap G A 7: 26,900,548 (GRCm39) A176T probably damaging Het
Ank2 T A 3: 126,740,041 (GRCm39) T1948S unknown Het
Arap1 T C 7: 101,034,199 (GRCm39) C214R probably benign Het
Ccdc82 C T 9: 13,252,097 (GRCm39) Q130* probably null Het
Cfh A C 1: 140,040,305 (GRCm39) V597G probably benign Het
Clp1 A T 2: 84,554,490 (GRCm39) C226* probably null Het
Cyp39a1 G A 17: 44,041,910 (GRCm39) W372* probably null Het
Dchs1 G A 7: 105,414,646 (GRCm39) P799S possibly damaging Het
Dmbt1 A T 7: 130,646,250 (GRCm39) N167I unknown Het
Dock10 A G 1: 80,518,048 (GRCm39) S1310P possibly damaging Het
Fam83h C T 15: 75,874,886 (GRCm39) G817D probably damaging Het
Fras1 A G 5: 96,762,771 (GRCm39) T758A probably benign Het
Fryl T C 5: 73,230,255 (GRCm39) H1634R probably damaging Het
Gcg C G 2: 62,307,183 (GRCm39) G126A probably damaging Het
Get1 A G 16: 95,953,145 (GRCm39) I79V possibly damaging Het
Gne T C 4: 44,040,266 (GRCm39) K633E probably benign Het
Gpr4 T C 7: 18,957,155 (GRCm39) V359A probably benign Het
Gprc5c C T 11: 114,759,443 (GRCm39) T422M possibly damaging Het
Gria2 C A 3: 80,639,392 (GRCm39) V207L probably benign Het
Hid1 T C 11: 115,239,295 (GRCm39) *789W probably null Het
Iigp1c A T 18: 60,379,329 (GRCm39) D288V probably benign Het
Jakmip3 G A 7: 138,591,257 (GRCm39) probably null Het
Kin G A 2: 10,096,604 (GRCm39) R151Q probably benign Het
Krt16 T C 11: 100,137,484 (GRCm39) E407G probably damaging Het
Krt81 T C 15: 101,358,110 (GRCm39) D381G probably damaging Het
Lrrc34 C T 3: 30,679,027 (GRCm39) G357S possibly damaging Het
Lypd11 C T 7: 24,422,759 (GRCm39) V105I possibly damaging Het
Mipol1 A G 12: 57,503,852 (GRCm39) Q340R probably benign Het
Mpzl3 T G 9: 44,966,542 (GRCm39) M1R probably null Het
Nrcam A G 12: 44,619,027 (GRCm39) N852S probably benign Het
Nup35 A T 2: 80,488,723 (GRCm39) E320V probably damaging Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Or5p56 G A 7: 107,589,853 (GRCm39) V94M possibly damaging Het
Pkhd1 T C 1: 20,628,943 (GRCm39) H668R probably benign Het
Ptprc T A 1: 138,028,782 (GRCm39) D333V probably benign Het
Rdh16 A G 10: 127,649,287 (GRCm39) K248E probably benign Het
Samd4b C A 7: 28,113,686 (GRCm39) G93V probably benign Het
Scgn A G 13: 24,165,476 (GRCm39) I78T probably benign Het
Slfn14 T C 11: 83,167,575 (GRCm39) I647V probably benign Het
Smyd5 T C 6: 85,417,093 (GRCm39) V157A probably benign Het
Syde2 T C 3: 145,708,113 (GRCm39) M951T probably benign Het
Tas2r105 T C 6: 131,663,945 (GRCm39) N161S probably damaging Het
Tbck T C 3: 132,443,316 (GRCm39) F581L probably damaging Het
Traip A G 9: 107,847,216 (GRCm39) N352D probably benign Het
Trim29 A G 9: 43,222,906 (GRCm39) Y245C probably damaging Het
Trpv4 T C 5: 114,771,201 (GRCm39) I443V probably benign Het
Usp36 C T 11: 118,159,660 (GRCm39) E595K probably benign Het
Vmn2r51 T A 7: 9,834,480 (GRCm39) Y186F probably null Het
Vmn2r97 A G 17: 19,150,548 (GRCm39) Y465C probably damaging Het
Zfp277 A T 12: 40,379,561 (GRCm39) H324Q probably damaging Het
Zfp987 A G 4: 146,058,473 (GRCm39) D17G probably damaging Het
Other mutations in Nudcd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Nudcd2 APN 11 40,627,413 (GRCm39) missense probably damaging 1.00
R1606:Nudcd2 UTSW 11 40,626,834 (GRCm39) splice site probably null
R1998:Nudcd2 UTSW 11 40,624,844 (GRCm39) missense probably damaging 1.00
R4115:Nudcd2 UTSW 11 40,627,434 (GRCm39) missense probably damaging 0.99
R8151:Nudcd2 UTSW 11 40,624,529 (GRCm39) unclassified probably benign
R8474:Nudcd2 UTSW 11 40,624,850 (GRCm39) nonsense probably null
R8994:Nudcd2 UTSW 11 40,624,862 (GRCm39) missense probably damaging 1.00
R9261:Nudcd2 UTSW 11 40,630,026 (GRCm39) missense probably damaging 1.00
R9286:Nudcd2 UTSW 11 40,627,403 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTACCTAATAGCCTTTGGAAAGTAC -3'
(R):5'- TTCAGCATCGGTCTTACAGAAATG -3'

Sequencing Primer
(F):5'- GCCTTTGGAAAGTACAATGTTTAATG -3'
(R):5'- GCATCGGTCTTACAGAAATGCATAC -3'
Posted On 2019-06-26