Incidental Mutation 'R9156:Sco2'
ID 695401
Institutional Source Beutler Lab
Gene Symbol Sco2
Ensembl Gene ENSMUSG00000091780
Gene Name SCO2 cytochrome c oxidase assembly protein
Synonyms
MMRRC Submission 068974-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9156 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 89255840-89258049 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89256363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 97 (D97G)
Ref Sequence ENSEMBL: ENSMUSP00000131943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023285] [ENSMUST00000036987] [ENSMUST00000074552] [ENSMUST00000088717] [ENSMUST00000145259] [ENSMUST00000167643] [ENSMUST00000228977]
AlphaFold Q8VCL2
Predicted Effect probably benign
Transcript: ENSMUST00000023285
SMART Domains Protein: ENSMUSP00000023285
Gene: ENSMUSG00000022615

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:Glycos_trans_3N 23 85 1.5e-20 PFAM
Pfam:Glycos_transf_3 95 326 3.1e-50 PFAM
PYNP_C 374 448 6.46e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000036987
SMART Domains Protein: ENSMUSP00000036900
Gene: ENSMUSG00000008690

DomainStartEndE-ValueType
Pfam:DUF1032 20 576 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074552
SMART Domains Protein: ENSMUSP00000074139
Gene: ENSMUSG00000008690

DomainStartEndE-ValueType
Pfam:DUF1032 51 607 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000088717
SMART Domains Protein: ENSMUSP00000086095
Gene: ENSMUSG00000008690

DomainStartEndE-ValueType
Pfam:CNDH2_N 11 123 1.2e-48 PFAM
Pfam:CNDH2_M 147 285 2.1e-20 PFAM
Pfam:CNDH2_C 308 598 1.9e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145259
Predicted Effect probably damaging
Transcript: ENSMUST00000167643
AA Change: D97G

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131943
Gene: ENSMUSG00000091780
AA Change: D97G

DomainStartEndE-ValueType
Pfam:SCO1-SenC 52 234 1.4e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000228977
AA Change: D97G

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 98% (61/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for a knock-out allele and a knock-in allele exhibit muscle weakness and reduced exercise endurance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T G 6: 121,647,957 (GRCm39) L1150V probably damaging Het
AB124611 A G 9: 21,455,989 (GRCm39) D194G possibly damaging Het
Adgrv1 A G 13: 81,669,302 (GRCm39) L2418P probably benign Het
Ap3m1 A G 14: 21,090,152 (GRCm39) S213P probably damaging Het
Apobec2 A T 17: 48,739,531 (GRCm39) L36H Het
Arrb1 A G 7: 99,237,280 (GRCm39) D78G Het
Astn1 A G 1: 158,338,555 (GRCm39) Q434R probably damaging Het
Cadps C G 14: 12,705,676 (GRCm38) D240H probably damaging Het
Cfhr4 A G 1: 139,660,085 (GRCm39) I680T probably damaging Het
Cmya5 A C 13: 93,233,878 (GRCm39) D403E unknown Het
Crxos A C 7: 15,631,436 (GRCm39) I45L probably benign Het
Dmxl1 C G 18: 50,072,639 (GRCm39) N2744K probably damaging Het
Dnah2 A G 11: 69,313,687 (GRCm39) I4204T Het
Ei24 A G 9: 36,697,327 (GRCm39) S134P probably damaging Het
Eif2ak3 G T 6: 70,860,614 (GRCm39) V397F probably damaging Het
Eif4g2 T C 7: 110,672,969 (GRCm39) I134V Het
Fam186a A G 15: 99,841,159 (GRCm39) I1695T possibly damaging Het
Gcnt3 T C 9: 69,941,939 (GRCm39) M210V probably damaging Het
Gpatch8 A G 11: 102,370,299 (GRCm39) S1080P probably benign Het
Gtf3c1 A G 7: 125,244,949 (GRCm39) L1695P possibly damaging Het
Haus3 A G 5: 34,324,994 (GRCm39) F222L probably damaging Het
Kbtbd8 C T 6: 95,099,825 (GRCm39) Q445* probably null Het
Kcnc3 A G 7: 44,240,592 (GRCm39) N95D probably damaging Het
Krt40 C T 11: 99,430,693 (GRCm39) probably null Het
Lgi1 A G 19: 38,289,746 (GRCm39) T271A probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Map3k21 A G 8: 126,665,463 (GRCm39) T551A possibly damaging Het
Muc5ac T C 7: 141,363,529 (GRCm39) I2280T unknown Het
Mug1 C A 6: 121,851,390 (GRCm39) D762E probably damaging Het
Myo1e A T 9: 70,266,605 (GRCm39) N615I probably damaging Het
Or4k36 T C 2: 111,145,827 (GRCm39) M1T probably null Het
Or51f23 T C 7: 102,453,339 (GRCm39) L218P probably damaging Het
Pld5 T C 1: 175,803,104 (GRCm39) E387G possibly damaging Het
Pld5 A G 1: 175,902,003 (GRCm39) V195A probably benign Het
Rad54l T C 4: 115,980,349 (GRCm39) probably benign Het
Rnf123 A T 9: 107,940,227 (GRCm39) probably benign Het
Rnf213 A G 11: 119,331,574 (GRCm39) E2262G Het
Rp1 C A 1: 4,234,161 (GRCm39) V910L unknown Het
Rpp21 A T 17: 36,568,407 (GRCm39) C23S probably benign Het
Scn11a T C 9: 119,588,989 (GRCm39) M1306V possibly damaging Het
Scn2b C T 9: 45,036,734 (GRCm39) L81F possibly damaging Het
Slc25a54 T C 3: 109,001,548 (GRCm39) V112A probably benign Het
Slc5a11 A T 7: 122,864,492 (GRCm39) K363* probably null Het
Smg1 G T 7: 117,753,884 (GRCm39) T2563K unknown Het
Snap47 A T 11: 59,319,290 (GRCm39) S283T probably damaging Het
Speer4a3 CTTT C 5: 26,155,857 (GRCm39) probably benign Het
Stat1 G T 1: 52,178,388 (GRCm39) R274L probably damaging Het
Stoml1 A G 9: 58,164,409 (GRCm39) T166A Het
Svs5 G T 2: 164,079,509 (GRCm39) Q133K probably benign Het
Tas2r107 T A 6: 131,636,422 (GRCm39) H209L probably benign Het
Tmco3 T A 8: 13,360,228 (GRCm39) V477D possibly damaging Het
Tmem131 A T 1: 36,880,767 (GRCm39) S168T possibly damaging Het
Tmem41a T C 16: 21,755,859 (GRCm39) N149S probably damaging Het
Ttll4 T C 1: 74,719,225 (GRCm39) F359L probably benign Het
Ttn T A 2: 76,785,162 (GRCm39) M784L unknown Het
Ubr1 A G 2: 120,703,603 (GRCm39) probably null Het
Ubxn2b C T 4: 6,214,646 (GRCm39) P227S probably damaging Het
Upb1 C T 10: 75,265,961 (GRCm39) L263F probably benign Het
Usp15 T A 10: 122,949,553 (GRCm39) T935S probably benign Het
Zscan4-ps3 G A 7: 11,347,164 (GRCm39) C400Y probably damaging Het
Other mutations in Sco2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01148:Sco2 APN 15 89,255,924 (GRCm39) missense probably benign 0.02
R2020:Sco2 UTSW 15 89,256,063 (GRCm39) missense probably damaging 1.00
R3811:Sco2 UTSW 15 89,257,882 (GRCm39) utr 5 prime probably benign
R3812:Sco2 UTSW 15 89,257,882 (GRCm39) utr 5 prime probably benign
R5686:Sco2 UTSW 15 89,256,175 (GRCm39) nonsense probably null
R5815:Sco2 UTSW 15 89,256,574 (GRCm39) missense probably benign
R7421:Sco2 UTSW 15 89,255,923 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- ATCTCGTTCTGGGTCCACAG -3'
(R):5'- GCATAGAAATTCCCGACACTGG -3'

Sequencing Primer
(F):5'- TTCTGGGTCCACAGTGATGAAGAC -3'
(R):5'- AAATTCCCGACACTGGGCAGG -3'
Posted On 2022-01-20