Incidental Mutation 'R5551:Uqcrc2'
ID 435124
Institutional Source Beutler Lab
Gene Symbol Uqcrc2
Ensembl Gene ENSMUSG00000030884
Gene Name ubiquinol cytochrome c reductase core protein 2
Synonyms 1500004O06Rik
MMRRC Submission 043108-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R5551 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 120234412-120258746 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 120244461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 201 (T201I)
Ref Sequence ENSEMBL: ENSMUSP00000033176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033176] [ENSMUST00000208400]
AlphaFold Q9DB77
Predicted Effect probably damaging
Transcript: ENSMUST00000033176
AA Change: T201I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000033176
Gene: ENSMUSG00000030884
AA Change: T201I

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 noncoding transcript
Transcript: ENSMUST00000123704
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150675
Predicted Effect probably benign
Transcript: ENSMUST00000208400
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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 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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB041806 G T 4: 138,123,312 (GRCm39) P3T probably damaging Het
Abl1 C T 2: 31,691,682 (GRCm39) A1048V probably benign Het
Acap2 A G 16: 30,923,726 (GRCm39) V659A probably damaging Het
Acox1 A G 11: 116,080,317 (GRCm39) S29P possibly damaging Het
Adamts1 A G 16: 85,594,634 (GRCm39) I405T probably benign Het
Afm A T 5: 90,679,511 (GRCm39) E335V probably null Het
Akap6 C T 12: 52,842,747 (GRCm39) P32S probably damaging Het
Alk T C 17: 72,182,028 (GRCm39) M1332V possibly damaging Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Atp2c1 C A 9: 105,336,936 (GRCm39) A16S probably damaging Het
Ccdc141 T C 2: 76,844,753 (GRCm39) E1438G probably damaging Het
Csmd2 T C 4: 128,404,741 (GRCm39) Y2376H possibly damaging Het
Csmd3 T C 15: 48,177,492 (GRCm39) T349A probably benign Het
Ctsr A T 13: 61,307,357 (GRCm39) M313K probably damaging Het
Dot1l CCAGCCCCACCCTCAGCC CCAGCC 10: 80,619,462 (GRCm39) probably benign Het
Dync2h1 A G 9: 7,031,718 (GRCm39) S3516P possibly damaging Het
Ehd4 A G 2: 119,958,100 (GRCm39) S162P possibly damaging Het
Ets2 T C 16: 95,513,165 (GRCm39) W114R probably damaging Het
Fignl1 A T 11: 11,751,603 (GRCm39) V484E probably damaging Het
Golph3 C A 15: 12,321,922 (GRCm39) S35R probably benign Het
Gzf1 T C 2: 148,526,248 (GRCm39) Y240H probably damaging Het
Hook3 A G 8: 26,558,639 (GRCm39) F75S possibly damaging Het
Ifi209 T A 1: 173,468,763 (GRCm39) S198T probably benign Het
Iqch A T 9: 63,403,535 (GRCm39) probably null Het
Katnip T C 7: 125,419,249 (GRCm39) F472S probably damaging Het
Lrrk2 C T 15: 91,696,553 (GRCm39) T2447I probably benign Het
Mesp2 T C 7: 79,461,367 (GRCm39) S231P probably benign Het
Muc5b T C 7: 141,422,240 (GRCm39) C4459R possibly damaging Het
Myh10 A G 11: 68,659,113 (GRCm39) E497G possibly damaging Het
Nalcn A T 14: 123,515,698 (GRCm39) V1701E possibly damaging Het
Nat8f1 T C 6: 85,887,891 (GRCm39) D23G probably damaging Het
Nfia G A 4: 97,902,497 (GRCm39) E250K probably damaging Het
Nup155 A G 15: 8,177,817 (GRCm39) M1067V probably benign Het
Or4k36 T C 2: 111,145,916 (GRCm39) F31L possibly damaging Het
Pde4d T A 13: 110,084,930 (GRCm39) probably null Het
Rtn4 G A 11: 29,691,011 (GRCm39) V1101I probably damaging Het
Sema4c A G 1: 36,591,398 (GRCm39) Y348H probably damaging Het
Sema6a A G 18: 47,381,595 (GRCm39) V958A possibly damaging Het
Sez6l2 A G 7: 126,566,002 (GRCm39) Y677C probably damaging Het
Smad5 T C 13: 56,883,654 (GRCm39) C347R probably damaging Het
Smim19 A G 8: 22,953,383 (GRCm39) Y95H probably benign Het
Srrm2 C A 17: 24,037,450 (GRCm39) probably benign Het
Ssb A G 2: 69,701,474 (GRCm39) K390E probably damaging Het
Tars1 G A 15: 11,392,068 (GRCm39) T248M probably damaging Het
Tcirg1 A T 19: 3,948,858 (GRCm39) F442L probably damaging Het
Tex55 A G 16: 38,648,336 (GRCm39) Y258H probably benign Het
Tlk2 A G 11: 105,112,133 (GRCm39) E162G probably benign Het
Tmc6 A G 11: 117,660,271 (GRCm39) C656R probably damaging Het
Ttn G T 2: 76,719,406 (GRCm39) probably benign Het
Zfp282 G T 6: 47,867,579 (GRCm39) A252S possibly damaging Het
Zfp473 G C 7: 44,383,575 (GRCm39) P253A probably benign Het
Zfp541 A G 7: 15,824,786 (GRCm39) N1068D probably damaging Het
Zfp946 A G 17: 22,674,365 (GRCm39) Q373R probably damaging Het
Zmat2 G A 18: 36,927,010 (GRCm39) G6R probably benign 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
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
R7534:Uqcrc2 UTSW 7 120,240,912 (GRCm39) missense possibly damaging 0.78
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'- CTCAAATCTGTATAGGCTTGTTGC -3'
(R):5'- CCTGCATATTCAGTGCACATG -3'

Sequencing Primer
(F):5'- GGCTTGTTGCTGTCTTTTAAAAATAC -3'
(R):5'- ACACGGTCTCTTACTGAATCTGGAG -3'
Posted On 2016-10-24