Incidental Mutation 'R9774:Ndufb2'
ID 733579
Institutional Source Beutler Lab
Gene Symbol Ndufb2
Ensembl Gene ENSMUSG00000002416
Gene Name NADH:ubiquinone oxidoreductase subunit B2
Synonyms 1810011O01Rik, 8kDa
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R9774 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 39569499-39576777 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 39575301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002487] [ENSMUST00000119379] [ENSMUST00000135671]
AlphaFold Q9CPU2
Predicted Effect probably benign
Transcript: ENSMUST00000002487
SMART Domains Protein: ENSMUSP00000002487
Gene: ENSMUSG00000002413

DomainStartEndE-ValueType
low complexity region 5 30 N/A INTRINSIC
low complexity region 46 56 N/A INTRINSIC
coiled coil region 94 121 N/A INTRINSIC
RBD 139 211 1.04e-33 SMART
C1 219 264 1.05e-13 SMART
low complexity region 297 311 N/A INTRINSIC
low complexity region 316 326 N/A INTRINSIC
low complexity region 459 474 N/A INTRINSIC
Pfam:Pkinase_Tyr 494 751 9.6e-65 PFAM
Pfam:Pkinase 494 753 5.1e-60 PFAM
Pfam:Kinase-like 573 741 3e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000119379
SMART Domains Protein: ENSMUSP00000114095
Gene: ENSMUSG00000002416

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 probably benign
Transcript: ENSMUST00000135671
SMART Domains Protein: ENSMUSP00000118918
Gene: ENSMUSG00000002416

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
Pfam:NADH_B2 37 104 1.8e-40 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.3%
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002J24Rik A C 7: 30,399,261 (GRCm39) Q18H possibly damaging Het
Adam23 C T 1: 63,585,583 (GRCm39) T390I probably benign Het
Adh7 T A 3: 137,929,847 (GRCm39) C174* probably null Het
Brip1 A G 11: 86,077,838 (GRCm39) S197P possibly damaging Het
Ccdc146 G T 5: 21,506,247 (GRCm39) D731E probably benign Het
Cfi T C 3: 129,668,645 (GRCm39) V557A probably damaging Het
Col4a4 A T 1: 82,484,665 (GRCm39) probably null Het
Csnka2ip T C 16: 64,299,093 (GRCm39) I424V unknown Het
Cubn C T 2: 13,433,530 (GRCm39) V1127I probably benign Het
Ehhadh T C 16: 21,581,976 (GRCm39) T339A probably benign Het
Ezh2 T A 6: 47,519,315 (GRCm39) I506L probably benign Het
Fbxw21 T C 9: 108,991,057 (GRCm39) M1V probably null Het
Herc1 T A 9: 66,372,032 (GRCm39) V567E probably null Het
Hrh1 A T 6: 114,457,241 (GRCm39) E174V probably benign Het
Il12rb1 A G 8: 71,272,040 (GRCm39) S585G possibly damaging Het
Kcnq4 C A 4: 120,573,076 (GRCm39) A242S probably damaging Het
Ltbp3 A G 19: 5,804,014 (GRCm39) N842S probably benign Het
Mbd1 A G 18: 74,408,274 (GRCm39) Q309R probably benign Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mroh2b T C 15: 4,943,613 (GRCm39) I383T probably benign Het
Mrto4 T C 4: 139,075,287 (GRCm39) D172G probably benign Het
Muc2 T G 7: 141,285,811 (GRCm39) S19A probably benign Het
Npas3 A T 12: 53,994,108 (GRCm39) T246S probably damaging Het
Or8u8 C T 2: 86,012,015 (GRCm39) V147M possibly damaging Het
Pappa2 T A 1: 158,675,920 (GRCm39) N942I probably damaging Het
Pdzph1 A G 17: 59,281,751 (GRCm39) V177A probably benign Het
Rab5b A G 10: 128,522,658 (GRCm39) V41A probably benign Het
Rnf111 T C 9: 70,334,303 (GRCm39) D980G probably damaging Het
Rreb1 A G 13: 38,114,185 (GRCm39) T515A probably benign Het
Rsf1 GCGGC GCGGCGGCGTCGGC 7: 97,229,138 (GRCm39) probably benign Het
Serpinb13 T A 1: 106,923,579 (GRCm39) F95I probably benign Het
Sgsm3 C T 15: 80,890,673 (GRCm39) R76C possibly damaging Het
Slc1a1 C T 19: 28,870,283 (GRCm39) A94V probably damaging Het
Slc22a6 T C 19: 8,603,134 (GRCm39) V494A probably benign Het
Spag9 A G 11: 94,005,062 (GRCm39) E1182G probably damaging Het
Spata13 T C 14: 60,944,196 (GRCm39) S530P probably benign Het
Spatc1l A G 10: 76,405,168 (GRCm39) probably null Het
Spg11 A G 2: 121,938,965 (GRCm39) S330P probably damaging Het
Stau2 A T 1: 16,445,010 (GRCm39) M306K probably damaging Het
Tcea2 C T 2: 181,328,664 (GRCm39) T239I probably damaging Het
Tlcd2 A G 11: 75,359,131 (GRCm39) D34G probably damaging Het
Tmem132a C T 19: 10,842,904 (GRCm39) W190* probably null Het
Top3a C A 11: 60,638,998 (GRCm39) V551L probably damaging Het
Trpm1 G A 7: 63,898,041 (GRCm39) E1225K possibly damaging Het
Tti2 A G 8: 31,645,660 (GRCm39) H350R probably damaging Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Tyw3 T C 3: 154,302,584 (GRCm39) D27G probably damaging Het
Usp36 G A 11: 118,153,875 (GRCm39) A1012V probably damaging Het
Vmn2r14 G A 5: 109,369,126 (GRCm39) T149I probably benign Het
Vps13c T A 9: 67,791,873 (GRCm39) S380T possibly damaging Het
Other mutations in Ndufb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0004:Ndufb2 UTSW 6 39,573,438 (GRCm39) missense possibly damaging 0.95
R4907:Ndufb2 UTSW 6 39,573,554 (GRCm39) intron probably benign
R8795:Ndufb2 UTSW 6 39,569,586 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- GCTCATGCTATGTGTGGCAG -3'
(R):5'- GCGCAAAACAGGTCAGAATTTG -3'

Sequencing Primer
(F):5'- AGCTGTAGTGATTACATTGTTTCTCC -3'
(R):5'- CATCAGTTAAGAGCGCTTGC -3'
Posted On 2022-11-14