Incidental Mutation 'R7534:Uqcrc2'
ID 583451
Institutional Source Beutler Lab
Gene Symbol Uqcrc2
Ensembl Gene ENSMUSG00000030884
Gene Name ubiquinol cytochrome c reductase core protein 2
Synonyms 1500004O06Rik
MMRRC Submission 045606-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R7534 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 120234412-120258746 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120240912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 115 (T115A)
Ref Sequence ENSEMBL: ENSMUSP00000033176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033176] [ENSMUST00000208400]
AlphaFold Q9DB77
Predicted Effect possibly damaging
Transcript: ENSMUST00000033176
AA Change: T115A

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033176
Gene: ENSMUSG00000030884
AA Change: T115A

DomainStartEndE-ValueType
Pfam:Peptidase_M16 48 194 3.2e-33 PFAM
Pfam:Peptidase_M16_C 199 378 2.2e-26 PFAM
low complexity region 417 430 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000208400
AA Change: T65A

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
Meta Mutation Damage Score 0.2137 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (48/48)
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 located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. Defects in this gene are a cause of mitochondrial complex III deficiency nuclear type 5. [provided by RefSeq, Jul 2015]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aif1 A C 17: 35,390,390 (GRCm39) M120R possibly damaging Het
Ank2 T C 3: 126,727,982 (GRCm39) probably null Het
Ankrd11 A T 8: 123,621,149 (GRCm39) I901N probably damaging Het
Apc T C 18: 34,450,015 (GRCm39) S2304P probably damaging Het
AW551984 A T 9: 39,502,777 (GRCm39) C632S probably benign Het
Bicra T C 7: 15,705,860 (GRCm39) N1527S probably damaging Het
Cacna1d A G 14: 29,801,319 (GRCm39) L1363P probably damaging Het
Cacna1g G A 11: 94,301,904 (GRCm39) P2037S probably benign Het
Cdc27 A G 11: 104,399,240 (GRCm39) L724S probably damaging Het
Cttnbp2 C T 6: 18,420,764 (GRCm39) probably null Het
Dchs1 G A 7: 105,421,580 (GRCm39) A280V probably benign Het
Dclk3 G A 9: 111,297,286 (GRCm39) G277R probably benign Het
Ddr1 A G 17: 35,993,514 (GRCm39) probably null Het
Dnah7c A C 1: 46,809,227 (GRCm39) D3515A probably damaging Het
Elovl4 G A 9: 83,672,172 (GRCm39) T49M probably damaging Het
Fam13b A T 18: 34,631,060 (GRCm39) F40I probably damaging Het
Fancd2os T C 6: 113,574,601 (GRCm39) H135R probably benign Het
Fer1l6 A G 15: 58,509,875 (GRCm39) I1446V probably damaging Het
Fyb2 T A 4: 104,856,545 (GRCm39) Y584* probably null Het
Galnt16 A T 12: 80,643,909 (GRCm39) L442F probably damaging Het
Garem1 T A 18: 21,432,973 (GRCm39) probably benign Het
Ggta1 C T 2: 35,292,440 (GRCm39) R289Q probably damaging Het
Gm11564 T C 11: 99,706,347 (GRCm39) T28A unknown Het
Hcn1 A G 13: 118,111,961 (GRCm39) T642A unknown Het
Hhat A T 1: 192,408,612 (GRCm39) L173H probably damaging Het
Hook1 T G 4: 95,905,834 (GRCm39) I585S probably benign Het
Ighg1 A T 12: 113,293,349 (GRCm39) S114T Het
Kmt2d G A 15: 98,749,899 (GRCm39) P2598L unknown Het
Macc1 A T 12: 119,411,254 (GRCm39) H674L probably benign Het
Mypn T C 10: 63,028,910 (GRCm39) E51G probably benign Het
Or2n1 T A 17: 38,486,188 (GRCm39) M71K probably benign Het
Or7e170 A G 9: 19,795,472 (GRCm39) V43A probably benign Het
Or9g3 A C 2: 85,589,803 (GRCm39) L306V probably benign Het
Pnliprp2 T A 19: 58,763,574 (GRCm39) S408T probably benign Het
Ppara A C 15: 85,661,927 (GRCm39) Y56S probably benign Het
Ppp1r1a A G 15: 103,440,816 (GRCm39) C114R probably benign Het
Pycard C T 7: 127,592,657 (GRCm39) V57I probably damaging Het
Relch G A 1: 105,668,748 (GRCm39) R993Q probably benign Het
Rin3 T G 12: 102,317,200 (GRCm39) Y143D unknown Het
Slc12a7 A G 13: 73,912,187 (GRCm39) probably benign Het
Slitrk3 C T 3: 72,957,440 (GRCm39) R444H probably damaging Het
Ttf2 C T 3: 100,857,728 (GRCm39) probably null Het
Ufsp2 T A 8: 46,433,361 (GRCm39) I25N probably benign Het
Vmn2r43 T A 7: 8,258,230 (GRCm39) R328* probably null Het
Vmn2r8 T A 5: 108,950,040 (GRCm39) Y269F possibly damaging Het
Zbtb5 T C 4: 44,995,030 (GRCm39) Y118C probably damaging Het
Zeb1 T C 18: 5,766,611 (GRCm39) V374A probably damaging Het
Other mutations in Uqcrc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02504:Uqcrc2 APN 7 120,242,254 (GRCm39) missense probably benign
R1499:Uqcrc2 UTSW 7 120,239,506 (GRCm39) missense probably benign 0.01
R2224:Uqcrc2 UTSW 7 120,240,937 (GRCm39) missense probably damaging 0.99
R4658:Uqcrc2 UTSW 7 120,250,144 (GRCm39) missense probably damaging 1.00
R4941:Uqcrc2 UTSW 7 120,242,301 (GRCm39) missense probably benign 0.00
R5551:Uqcrc2 UTSW 7 120,244,461 (GRCm39) missense probably damaging 1.00
R5879:Uqcrc2 UTSW 7 120,237,111 (GRCm39) missense probably damaging 1.00
R6089:Uqcrc2 UTSW 7 120,253,232 (GRCm39) missense probably damaging 1.00
R7883:Uqcrc2 UTSW 7 120,244,440 (GRCm39) missense possibly damaging 0.53
R8797:Uqcrc2 UTSW 7 120,239,500 (GRCm39) missense probably damaging 1.00
R9626:Uqcrc2 UTSW 7 120,237,118 (GRCm39) nonsense probably null
Z1188:Uqcrc2 UTSW 7 120,239,516 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CTCAGCCGAAACTCTCCTGT -3'
(R):5'- TGCCTCTGTATAGGTTTACAAACT -3'

Sequencing Primer
(F):5'- AAATGTTAGCTTTGCATTTTGCTGTC -3'
(R):5'- CACTGGATACCCTGTAACTGGAG -3'
Posted On 2019-10-17