Incidental Mutation 'R8023:Ndufs2'
ID 617502
Institutional Source Beutler Lab
Gene Symbol Ndufs2
Ensembl Gene ENSMUSG00000013593
Gene Name NADH:ubiquinone oxidoreductase core subunit S2
Synonyms
MMRRC Submission 067462-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8023 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 171062422-171078956 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 171064263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 375 (M375K)
Ref Sequence ENSEMBL: ENSMUSP00000013737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013737] [ENSMUST00000079957] [ENSMUST00000111318] [ENSMUST00000191871] [ENSMUST00000193973] [ENSMUST00000194778]
AlphaFold Q91WD5
Predicted Effect probably damaging
Transcript: ENSMUST00000013737
AA Change: M375K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000013737
Gene: ENSMUSG00000013593
AA Change: M375K

DomainStartEndE-ValueType
Pfam:Complex1_49kDa 193 463 1.1e-131 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079957
SMART Domains Protein: ENSMUSP00000078875
Gene: ENSMUSG00000058715

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:TCR_zetazeta 21 51 3.7e-19 PFAM
ITAM 62 82 9.62e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111318
AA Change: M349K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106950
Gene: ENSMUSG00000013593
AA Change: M349K

DomainStartEndE-ValueType
Pfam:Complex1_49kDa 193 236 2e-21 PFAM
Pfam:Complex1_49kDa 232 437 1.7e-105 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191871
SMART Domains Protein: ENSMUSP00000141942
Gene: ENSMUSG00000013593

DomainStartEndE-ValueType
Pfam:Complex1_49kDa 114 146 5.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193973
SMART Domains Protein: ENSMUSP00000141240
Gene: ENSMUSG00000058715

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:TCR_zetazeta 21 53 4.7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194778
SMART Domains Protein: ENSMUSP00000141370
Gene: ENSMUSG00000013593

DomainStartEndE-ValueType
Pfam:Complex1_49kDa 166 231 3.4e-28 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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 core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg2 A G 17: 57,152,448 (GRCm39) Y665H probably damaging Het
Acte1 T C 7: 143,445,528 (GRCm39) S192P probably damaging Het
Agbl4 T A 4: 111,474,345 (GRCm39) V378E probably benign Het
Card9 T C 2: 26,247,327 (GRCm39) D274G probably benign Het
Ccnc T C 4: 21,747,578 (GRCm39) probably null Het
Col1a2 T G 6: 4,533,847 (GRCm39) S843A unknown Het
Cux1 T A 5: 136,402,251 (GRCm39) I111F probably damaging Het
Fam24b A C 7: 130,927,869 (GRCm39) S107A probably benign Het
Fndc7 C T 3: 108,774,461 (GRCm39) C599Y probably damaging Het
Gm3604 G A 13: 62,517,683 (GRCm39) A225V probably damaging Het
Grhl3 A G 4: 135,277,640 (GRCm39) V475A probably benign Het
H2ac20 A G 3: 96,128,106 (GRCm39) S19P unknown Het
Heg1 T A 16: 33,550,895 (GRCm39) V958E possibly damaging Het
Hibch T C 1: 52,899,197 (GRCm39) M30T probably benign Het
Hk2 T A 6: 82,705,790 (GRCm39) M838L probably benign Het
Hpd A G 5: 123,314,297 (GRCm39) F206S probably damaging Het
Il34 C T 8: 111,469,284 (GRCm39) C177Y probably damaging Het
Il6ra A G 3: 89,820,260 (GRCm39) probably null Het
Itpr2 A G 6: 146,088,988 (GRCm39) I2240T probably damaging Het
Med24 A G 11: 98,609,321 (GRCm39) probably null Het
Mpz A G 1: 170,987,602 (GRCm39) D246G probably damaging Het
Ncam1 C A 9: 49,421,057 (GRCm39) A753S probably benign Het
Obox2 A G 7: 15,131,145 (GRCm39) K84E possibly damaging Het
Or4c31 A G 2: 88,292,022 (GRCm39) I132V probably benign Het
Or51k1 A G 7: 103,661,006 (GRCm39) I301T probably damaging Het
Or7e178 C T 9: 20,225,545 (GRCm39) V224I probably benign Het
Pds5a A T 5: 65,795,241 (GRCm39) L665Q probably damaging Het
Prr29 A G 11: 106,267,099 (GRCm39) E38G probably benign Het
Ptpn3 G C 4: 57,248,688 (GRCm39) D215E probably benign Het
Ptprq G A 10: 107,488,477 (GRCm39) Q987* probably null Het
Ranbp6 T C 19: 29,789,222 (GRCm39) S377G possibly damaging Het
Rps6ka1 A T 4: 133,594,506 (GRCm39) L168Q probably damaging Het
Sall1 A G 8: 89,759,171 (GRCm39) I311T probably damaging Het
Satb2 T C 1: 56,930,390 (GRCm39) Y211C probably damaging Het
Sis T A 3: 72,859,813 (GRCm39) Y314F probably damaging Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Slc6a20a T C 9: 123,489,657 (GRCm39) N129D probably damaging Het
Slu7 G A 11: 43,336,975 (GRCm39) R572Q probably benign Het
Tbx6 C T 7: 126,382,031 (GRCm39) A123V possibly damaging Het
Tcn2 A T 11: 3,877,579 (GRCm39) I23K possibly damaging Het
Tiparp A G 3: 65,439,224 (GRCm39) D180G probably benign Het
Tln2 A G 9: 67,131,346 (GRCm39) L1400P probably damaging Het
Ttf2 T C 3: 100,863,571 (GRCm39) T588A probably benign Het
Ttn A G 2: 76,769,564 (GRCm39) V2741A unknown Het
Txlna A T 4: 129,533,278 (GRCm39) S83R probably damaging Het
Vmn2r16 C T 5: 109,488,272 (GRCm39) Q382* probably null Het
Vmn2r76 A G 7: 85,879,028 (GRCm39) V424A probably benign Het
Zfc3h1 T A 10: 115,256,553 (GRCm39) L1508I probably damaging Het
Zfp189 G A 4: 49,530,312 (GRCm39) G472R probably damaging Het
Zfp462 G A 4: 55,073,106 (GRCm39) probably null Het
Other mutations in Ndufs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01959:Ndufs2 APN 1 171,064,798 (GRCm39) missense probably benign 0.45
IGL02367:Ndufs2 APN 1 171,066,934 (GRCm39) nonsense probably null
R0905:Ndufs2 UTSW 1 171,063,922 (GRCm39) splice site probably null
R1618:Ndufs2 UTSW 1 171,073,690 (GRCm39) missense probably benign 0.19
R3788:Ndufs2 UTSW 1 171,062,889 (GRCm39) missense possibly damaging 0.81
R4866:Ndufs2 UTSW 1 171,074,618 (GRCm39) missense probably benign 0.05
R4959:Ndufs2 UTSW 1 171,065,578 (GRCm39) missense probably damaging 1.00
R5788:Ndufs2 UTSW 1 171,066,954 (GRCm39) missense probably damaging 1.00
R5992:Ndufs2 UTSW 1 171,063,987 (GRCm39) missense probably damaging 1.00
R6141:Ndufs2 UTSW 1 171,064,185 (GRCm39) missense probably damaging 1.00
R6419:Ndufs2 UTSW 1 171,068,668 (GRCm39) missense probably benign 0.12
R6480:Ndufs2 UTSW 1 171,064,267 (GRCm39) missense probably damaging 1.00
R7034:Ndufs2 UTSW 1 171,065,877 (GRCm39) missense probably benign 0.22
R7036:Ndufs2 UTSW 1 171,065,877 (GRCm39) missense probably benign 0.22
R7854:Ndufs2 UTSW 1 171,066,938 (GRCm39) missense probably damaging 1.00
R8090:Ndufs2 UTSW 1 171,064,247 (GRCm39) missense probably damaging 1.00
R8493:Ndufs2 UTSW 1 171,068,677 (GRCm39) missense probably benign
R9725:Ndufs2 UTSW 1 171,074,629 (GRCm39) missense possibly damaging 0.69
R9767:Ndufs2 UTSW 1 171,068,643 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTACACCTCTGTGAGCAGTGAG -3'
(R):5'- AGAGCTTGGATCTGGTTTCC -3'

Sequencing Primer
(F):5'- AGGGAGTGCTTCGTTCCC -3'
(R):5'- TAGATAGGGTTTCTCTGTAGAGCCC -3'
Posted On 2020-01-23