Incidental Mutation 'R8694:Ndufc2'
ID 668566
Institutional Source Beutler Lab
Gene Symbol Ndufc2
Ensembl Gene ENSMUSG00000030647
Gene Name NADH:ubiquinone oxidoreductase subunit C2
Synonyms 14.5b subunit of the NADH-ubiquinone dehydrogenase complex, G1, 1810004I06Rik, 2010300P09Rik
MMRRC Submission 068548-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8694 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 97049210-97057007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 97049403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 3 (N3I)
Ref Sequence ENSEMBL: ENSMUSP00000032882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032882] [ENSMUST00000149122]
AlphaFold Q9CQ54
Predicted Effect probably benign
Transcript: ENSMUST00000032882
AA Change: N3I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032882
Gene: ENSMUSG00000030647
AA Change: N3I

DomainStartEndE-ValueType
Pfam:NDUF_C2 8 120 3.4e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149122
AA Change: N3I

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adar T C 3: 89,642,950 (GRCm39) L277P probably damaging Het
Adgrb3 C A 1: 25,865,472 (GRCm39) D124Y probably damaging Het
Afdn T C 17: 14,108,641 (GRCm39) V1403A probably benign Het
Afg3l1 T C 8: 124,227,973 (GRCm39) V586A probably damaging Het
Ajm1 A G 2: 25,469,831 (GRCm39) S27P possibly damaging Het
Aloxe3 A G 11: 69,033,677 (GRCm39) D597G probably damaging Het
Asb15 T C 6: 24,570,666 (GRCm39) V548A probably benign Het
Atp6v1a C T 16: 43,921,991 (GRCm39) R388Q probably damaging Het
Btbd8 A G 5: 107,658,635 (GRCm39) D1735G probably benign Het
C130074G19Rik G A 1: 184,615,184 (GRCm39) T2M probably damaging Het
Ccdc187 T C 2: 26,165,505 (GRCm39) T884A probably benign Het
Cdk5rap1 G A 2: 154,195,148 (GRCm39) R356* probably null Het
Cebpz A T 17: 79,234,334 (GRCm39) H725Q probably damaging Het
Celsr2 T C 3: 108,314,176 (GRCm39) D1283G probably damaging Het
Cldn11 G T 3: 31,217,239 (GRCm39) V136F probably damaging Het
Cpxm2 T C 7: 131,681,783 (GRCm39) N249D probably benign Het
Ctsz T C 2: 174,280,072 (GRCm39) N67D probably benign Het
Drd3 A C 16: 43,643,075 (GRCm39) H405P probably damaging Het
F2rl2 T C 13: 95,837,339 (GRCm39) V128A probably benign Het
Fh1 C T 1: 175,448,126 (GRCm39) P43S probably benign Het
Fndc7 C T 3: 108,779,622 (GRCm39) W307* probably null Het
Gmip G T 8: 70,270,485 (GRCm39) V732L probably benign Het
Heatr4 A G 12: 84,027,038 (GRCm39) F73S probably damaging Het
Iqcf4 T C 9: 106,448,111 (GRCm39) probably benign Het
Itln1 T A 1: 171,359,279 (GRCm39) Q67L probably damaging Het
Jak1 A G 4: 101,013,704 (GRCm39) V1008A probably damaging Het
Kcnh1 A T 1: 191,921,031 (GRCm39) probably benign Het
Kcnu1 T G 8: 26,342,101 (GRCm39) probably benign Het
Kif1b A G 4: 149,305,024 (GRCm39) S967P probably damaging Het
Klra17 A G 6: 129,851,780 (GRCm39) S31P probably benign Het
Kmt2d C T 15: 98,742,615 (GRCm39) E4182K unknown Het
Lama5 T C 2: 179,822,677 (GRCm39) D2825G probably damaging Het
Lmtk2 T C 5: 144,108,566 (GRCm39) V336A probably damaging Het
Mad1l1 A G 5: 140,074,438 (GRCm39) I584T probably benign Het
Magea1 T A X: 153,871,787 (GRCm39) N313I possibly damaging Het
Mapt T C 11: 104,189,440 (GRCm39) S153P probably benign Het
Myo1e T C 9: 70,291,172 (GRCm39) Y988H probably benign Het
Nos2 T A 11: 78,836,515 (GRCm39) V531D possibly damaging Het
Npbwr1 T A 1: 5,986,617 (GRCm39) Y299F probably damaging Het
Or4a39 A G 2: 89,237,378 (GRCm39) L15P probably damaging Het
Or4a70 A G 2: 89,324,171 (GRCm39) Y162H possibly damaging Het
Or52n20 G T 7: 104,320,296 (GRCm39) C129F probably damaging Het
Or8h10 G A 2: 86,808,591 (GRCm39) P183L probably damaging Het
Pp2d1 T C 17: 53,815,191 (GRCm39) Y511C probably benign Het
Psmb4 T C 3: 94,793,435 (GRCm39) N149D probably benign Het
Setbp1 T C 18: 78,901,516 (GRCm39) K717R probably damaging Het
Slc25a11 T C 11: 70,535,630 (GRCm39) M303V probably benign Het
Spesp1 A T 9: 62,180,242 (GRCm39) M222K probably benign Het
Tmem132d A G 5: 127,869,495 (GRCm39) M613T probably benign Het
Ugt2a2 A G 5: 87,612,029 (GRCm39) F294L probably damaging Het
Usp34 A G 11: 23,434,161 (GRCm39) T3246A Het
Zfp750 T A 11: 121,404,456 (GRCm39) I140F possibly damaging Het
Zscan4e A T 7: 11,041,574 (GRCm39) H127Q possibly damaging Het
Other mutations in Ndufc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Ndufc2 APN 7 97,049,397 (GRCm39) start codon destroyed probably null 0.98
IGL01072:Ndufc2 APN 7 97,049,490 (GRCm39) missense probably damaging 0.97
FR4589:Ndufc2 UTSW 7 97,049,497 (GRCm39) missense probably benign
FR4976:Ndufc2 UTSW 7 97,049,481 (GRCm39) missense probably damaging 0.99
R0437:Ndufc2 UTSW 7 97,049,544 (GRCm39) missense probably benign 0.02
R5046:Ndufc2 UTSW 7 97,056,871 (GRCm39) missense probably damaging 1.00
R6225:Ndufc2 UTSW 7 97,056,099 (GRCm39) missense probably damaging 1.00
R9632:Ndufc2 UTSW 7 97,056,102 (GRCm39) missense probably damaging 0.99
RF018:Ndufc2 UTSW 7 97,056,228 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- ACTTAGAAGCCCGGAACCTC -3'
(R):5'- TAGAGCACAGATGACCTCAGC -3'

Sequencing Primer
(F):5'- ACCTCGCGTGCAGAGGTTG -3'
(R):5'- AACCCTGCAGCTCCTCG -3'
Posted On 2021-04-30