Incidental Mutation 'R8174:Mpc2'
ID 643833
Institutional Source Beutler Lab
Gene Symbol Mpc2
Ensembl Gene ENSMUSG00000026568
Gene Name mitochondrial pyruvate carrier 2
Synonyms 2010002I07Rik, ESTM43, 0610006C01Rik, Brp44, 2610205H19Rik
MMRRC Submission 067599-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R8174 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 165288829-165308787 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 165308458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027852] [ENSMUST00000027853] [ENSMUST00000111439] [ENSMUST00000111440] [ENSMUST00000148550] [ENSMUST00000155216] [ENSMUST00000193575]
AlphaFold Q9D023
Predicted Effect probably benign
Transcript: ENSMUST00000027852
SMART Domains Protein: ENSMUSP00000027852
Gene: ENSMUSG00000026567

DomainStartEndE-ValueType
CYCc 7 206 3.27e-3 SMART
Pfam:Guanylate_cyc 285 442 2.3e-12 PFAM
low complexity region 838 847 N/A INTRINSIC
low complexity region 899 922 N/A INTRINSIC
low complexity region 1149 1164 N/A INTRINSIC
Blast:TPR 1295 1328 6e-9 BLAST
Blast:TPR 1510 1543 6e-12 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000027853
SMART Domains Protein: ENSMUSP00000027853
Gene: ENSMUSG00000026568

DomainStartEndE-ValueType
Pfam:MPC 27 127 2.5e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111439
SMART Domains Protein: ENSMUSP00000107066
Gene: ENSMUSG00000026567

DomainStartEndE-ValueType
CYCc 7 206 3.27e-3 SMART
Pfam:Guanylate_cyc 286 420 1.9e-12 PFAM
low complexity region 838 847 N/A INTRINSIC
low complexity region 899 922 N/A INTRINSIC
low complexity region 1149 1164 N/A INTRINSIC
Blast:TPR 1295 1328 6e-9 BLAST
Blast:TPR 1510 1543 7e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000111440
SMART Domains Protein: ENSMUSP00000107067
Gene: ENSMUSG00000026567

DomainStartEndE-ValueType
CYCc 7 206 3.27e-3 SMART
Pfam:Guanylate_cyc 286 420 1.9e-12 PFAM
low complexity region 838 847 N/A INTRINSIC
low complexity region 899 922 N/A INTRINSIC
low complexity region 1149 1164 N/A INTRINSIC
Blast:TPR 1295 1328 6e-9 BLAST
Blast:TPR 1510 1543 7e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000148550
SMART Domains Protein: ENSMUSP00000137959
Gene: ENSMUSG00000026567

DomainStartEndE-ValueType
CYCc 7 206 3.27e-3 SMART
Pfam:Guanylate_cyc 285 420 4.3e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155216
SMART Domains Protein: ENSMUSP00000137744
Gene: ENSMUSG00000026567

DomainStartEndE-ValueType
PDB:4OZ3|A 1 98 2e-51 PDB
Blast:CYCc 7 98 2e-61 BLAST
SCOP:d1azsb_ 43 98 9e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193575
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,378,617 (GRCm39) N2090S possibly damaging Het
Asxl3 T C 18: 22,650,800 (GRCm39) S930P probably benign Het
Cachd1 T A 4: 100,823,466 (GRCm39) I506N probably damaging Het
Calm1 G T 12: 100,171,967 (GRCm39) V140L probably benign Het
Cdsn A T 17: 35,866,529 (GRCm39) K353* probably null Het
Cldn11 T C 3: 31,208,210 (GRCm39) V125A probably benign Het
Ddx60 G A 8: 62,470,284 (GRCm39) probably null Het
Dlg2 A G 7: 91,589,248 (GRCm39) I216V probably benign Het
Dnah5 A G 15: 28,311,279 (GRCm39) probably null Het
Dnajc28 G A 16: 91,413,795 (GRCm39) R150* probably null Het
Erap1 A T 13: 74,794,683 (GRCm39) Y114F probably benign Het
Gm14443 G A 2: 175,011,468 (GRCm39) P326L probably damaging Het
Gm2042 T A 12: 87,926,928 (GRCm39) L415Q probably damaging Het
Gm8797 T C 3: 5,816,094 (GRCm39) I44T probably benign Het
Matn2 C A 15: 34,422,555 (GRCm39) F547L probably benign Het
Or5b12b A G 19: 12,861,268 (GRCm39) T8A probably benign Het
Or7d10 A C 9: 19,832,020 (GRCm39) T172P probably damaging Het
Pcnx4 T A 12: 72,603,687 (GRCm39) L536Q probably damaging Het
Phlpp2 G A 8: 110,595,321 (GRCm39) R24H unknown Het
Pkmyt1 A T 17: 23,952,813 (GRCm39) D123V probably damaging Het
Polg A T 7: 79,106,466 (GRCm39) M668K probably benign Het
Ppp1r12a G T 10: 108,107,598 (GRCm39) A974S probably benign Het
Ppp2r3d T C 9: 101,090,501 (GRCm39) probably benign Het
Rabl3 T C 16: 37,377,225 (GRCm39) Y61H probably damaging Het
Rap2a T A 14: 120,716,269 (GRCm39) I44N probably damaging Het
Rev3l T C 10: 39,735,111 (GRCm39) V2779A probably damaging Het
Rnf43 G T 11: 87,622,057 (GRCm39) R259L probably benign Het
Rspry1 T A 8: 95,376,450 (GRCm39) L448Q probably damaging Het
Slc43a2 T G 11: 75,434,193 (GRCm39) probably null Het
Slc6a5 A G 7: 49,598,057 (GRCm39) I640M probably benign Het
Sp140l1 T G 1: 85,077,261 (GRCm39) S102R probably damaging Het
Srrm2 C T 17: 24,034,297 (GRCm39) P314S unknown Het
Strn4 C T 7: 16,562,733 (GRCm39) R291C probably damaging Het
Syt4 T A 18: 31,577,230 (GRCm39) R41S probably benign Het
Tfb1m T C 17: 3,569,855 (GRCm39) D337G probably benign Het
Togaram1 G T 12: 65,029,465 (GRCm39) D963Y possibly damaging Het
Tpsg1 T C 17: 25,591,564 (GRCm39) C55R probably damaging Het
Tram1l1 A G 3: 124,115,911 (GRCm39) K357R probably benign Het
Veph1 A G 3: 66,171,316 (GRCm39) I42T probably damaging Het
Vps13b C G 15: 35,709,456 (GRCm39) S1801* probably null Het
Zcwpw1 G A 5: 137,817,839 (GRCm39) probably null Het
Zfp266 G A 9: 20,418,110 (GRCm39) probably benign Het
Zmym5 T A 14: 57,031,918 (GRCm39) R397* probably null Het
Other mutations in Mpc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01361:Mpc2 APN 1 165,307,092 (GRCm39) missense probably benign 0.12
R6631:Mpc2 UTSW 1 165,307,081 (GRCm39) missense probably benign 0.44
R7346:Mpc2 UTSW 1 165,307,080 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CCAGGGTCACTCAAGATTGAAC -3'
(R):5'- GTGAAGTCAAGTGCTAGCTTTTAAG -3'

Sequencing Primer
(F):5'- GGACTGAAATTTGACTGTCAGCACC -3'
(R):5'- GTCAAGTGCTAGCTTTTAAGTACAG -3'
Posted On 2020-08-27