Incidental Mutation 'R0004:Ndufb2'
ID 32382
Institutional Source Beutler Lab
Gene Symbol Ndufb2
Ensembl Gene ENSMUSG00000002416
Gene Name NADH:ubiquinone oxidoreductase subunit B2
Synonyms 1810011O01Rik, 8kDa
MMRRC Submission 038300-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R0004 (G1)
Quality Score 210
Status Validated (trace)
Chromosome 6
Chromosomal Location 39569499-39576777 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 39573438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 51 (T51I)
Ref Sequence ENSEMBL: ENSMUSP00000118918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119379] [ENSMUST00000135671]
AlphaFold Q9CPU2
Predicted Effect noncoding transcript
Transcript: ENSMUST00000002490
Predicted Effect possibly damaging
Transcript: ENSMUST00000119379
AA Change: T51I

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114095
Gene: ENSMUSG00000002416
AA Change: T51I

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
Pfam:NADH_B2 34 105 6.9e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126621
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128064
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128218
Predicted Effect possibly damaging
Transcript: ENSMUST00000135671
AA Change: T51I

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118918
Gene: ENSMUSG00000002416
AA Change: T51I

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
Pfam:NADH_B2 37 104 1.8e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146793
Meta Mutation Damage Score 0.1791 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 98% (63/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays a important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Hydropathy analysis revealed that this subunit and 4 other subunits have an overall hydrophilic pattern, even though they are found within the hydrophobic protein (HP) fraction of complex I. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adal T C 2: 120,982,966 (GRCm39) I86T probably damaging Het
Aff3 T C 1: 38,308,807 (GRCm39) D376G possibly damaging Het
Akap11 A T 14: 78,752,380 (GRCm39) H164Q possibly damaging Het
Akap12 A T 10: 4,303,220 (GRCm39) D10V probably damaging Het
Arhgap32 T C 9: 32,063,294 (GRCm39) V101A probably damaging Het
Atm A T 9: 53,364,828 (GRCm39) probably benign Het
Ccdc18 A G 5: 108,309,566 (GRCm39) D387G possibly damaging Het
Ccdc38 A T 10: 93,409,964 (GRCm39) Q261L probably damaging Het
Cd180 T G 13: 102,839,216 (GRCm39) V33G probably benign Het
Cd207 G A 6: 83,651,230 (GRCm39) Q242* probably null Het
Cnp T C 11: 100,467,633 (GRCm39) F192S probably damaging Het
Colec10 G T 15: 54,274,271 (GRCm39) R33L possibly damaging Het
Csn1s1 A T 5: 87,819,390 (GRCm39) M16L probably benign Het
Dnah10 A T 5: 124,803,966 (GRCm39) M98L probably benign Het
Dnah17 T C 11: 117,950,918 (GRCm39) I2902V possibly damaging Het
Dtnb A G 12: 3,646,635 (GRCm39) probably benign Het
Epha5 T C 5: 84,479,701 (GRCm39) Y101C probably damaging Het
Ephb2 T A 4: 136,384,835 (GRCm39) M860L probably damaging Het
Fbxw18 T C 9: 109,530,381 (GRCm39) T77A probably damaging Het
Fgfbp3 A G 19: 36,896,082 (GRCm39) S179P possibly damaging Het
Foxp2 A G 6: 15,197,095 (GRCm39) T45A possibly damaging Het
Gckr A T 5: 31,454,933 (GRCm39) probably benign Het
Glce T A 9: 61,975,861 (GRCm39) Q213L probably damaging Het
Gm1965 A C 6: 89,123,469 (GRCm39) H84P unknown Het
Hbegf A G 18: 36,640,559 (GRCm39) V166A probably damaging Het
Helb G T 10: 119,944,886 (GRCm39) H217N probably damaging Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Kansl2 A G 15: 98,418,257 (GRCm39) L392P probably damaging Het
Klra1 A T 6: 130,349,836 (GRCm39) Y201N probably damaging Het
Klra3 A G 6: 130,300,650 (GRCm39) S240P probably damaging Het
Liph T A 16: 21,802,944 (GRCm39) R42* probably null Het
Lrp1 A T 10: 127,377,694 (GRCm39) probably null Het
Luc7l2 A T 6: 38,566,169 (GRCm39) K52M probably damaging Het
Mecom G A 3: 30,034,060 (GRCm39) P215S probably damaging Het
Myo1g T A 11: 6,465,901 (GRCm39) T395S probably damaging Het
Ndst4 T A 3: 125,364,475 (GRCm39) M384K probably benign Het
Nell1 C A 7: 50,210,507 (GRCm39) probably benign Het
Or51k1 A T 7: 103,661,638 (GRCm39) N90K probably benign Het
Oxr1 G A 15: 41,683,936 (GRCm39) S434N possibly damaging Het
Pcdhac2 T A 18: 37,278,290 (GRCm39) S423R probably benign Het
Pcdhb10 T A 18: 37,545,012 (GRCm39) D29E probably benign Het
Pde10a A G 17: 9,200,408 (GRCm39) T1053A probably benign Het
Pkdrej T A 15: 85,702,384 (GRCm39) H1184L probably damaging Het
Prkaa2 C T 4: 104,904,288 (GRCm39) R263Q probably null Het
Prmt9 A G 8: 78,282,411 (GRCm39) I103V possibly damaging Het
Rbm15b T C 9: 106,762,135 (GRCm39) T678A probably benign Het
Ryr2 T C 13: 11,680,805 (GRCm39) Y3180C probably benign Het
Scaf1 T C 7: 44,657,094 (GRCm39) probably benign Het
Scn7a T A 2: 66,518,139 (GRCm39) N1024I possibly damaging Het
Sec23b T C 2: 144,406,482 (GRCm39) probably benign Het
Sf1 C A 19: 6,424,221 (GRCm39) P417Q probably damaging Het
Slc4a3 A T 1: 75,533,653 (GRCm39) probably benign Het
Stk32a T C 18: 43,438,121 (GRCm39) W207R probably damaging Het
Syne1 A T 10: 5,393,132 (GRCm39) probably benign Het
Tecta A T 9: 42,256,774 (GRCm39) V1634E possibly damaging Het
Tenm2 A G 11: 35,914,184 (GRCm39) F2450S probably damaging Het
Tgfb1 T C 7: 25,391,791 (GRCm39) probably benign Het
Tpgs2 A G 18: 25,291,295 (GRCm39) probably benign Het
Washc5 A G 15: 59,239,316 (GRCm39) M149T probably damaging Het
Wrn A T 8: 33,807,588 (GRCm39) V290D probably damaging Het
Zbtb41 A G 1: 139,370,626 (GRCm39) T688A possibly damaging Het
Zfp560 C T 9: 20,259,263 (GRCm39) C533Y probably damaging Het
Zfp791 G A 8: 85,837,495 (GRCm39) A123V probably benign Het
Other mutations in Ndufb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4907:Ndufb2 UTSW 6 39,573,554 (GRCm39) intron probably benign
R8795:Ndufb2 UTSW 6 39,569,586 (GRCm39) missense probably benign 0.25
R9774:Ndufb2 UTSW 6 39,575,301 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TCCTGCTCCCCAAGTTTAAAGCAAG -3'
(R):5'- GCACAACCTGGGCTACGTATTACC -3'

Sequencing Primer
(F):5'- AAGTGGGAGCCTGCCAATC -3'
(R):5'- TCCGAGTCATGCCAAAATCG -3'
Posted On 2013-05-09