Incidental Mutation 'R6327:Cmc2'
Institutional Source Beutler Lab
Gene Symbol Cmc2
Ensembl Gene ENSMUSG00000014633
Gene NameCOX assembly mitochondrial protein 2
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.379) question?
Stock #R6327 (G1)
Quality Score225.009
Status Validated
Chromosomal Location116888685-116921455 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 116894157 bp
Amino Acid Change Histidine to Glutamine at position 28 (H28Q)
Ref Sequence ENSEMBL: ENSMUSP00000120966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078589] [ENSMUST00000128304] [ENSMUST00000131616] [ENSMUST00000148235] [ENSMUST00000150128]
Predicted Effect probably benign
Transcript: ENSMUST00000078589
SMART Domains Protein: ENSMUSP00000077663
Gene: ENSMUSG00000014633

Pfam:Cmc1 1 35 2.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128304
SMART Domains Protein: ENSMUSP00000120919
Gene: ENSMUSG00000014633

Pfam:Cmc1 1 43 2.5e-8 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000131616
AA Change: T43K
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134356
Predicted Effect probably damaging
Transcript: ENSMUST00000148235
AA Change: H28Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120966
Gene: ENSMUSG00000014633
AA Change: H28Q

Pfam:Cmc1 1 71 5.3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150128
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155260
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,558,692 probably null Het
Birc6 C A 17: 74,662,779 H383Q probably damaging Het
C2 C A 17: 34,864,103 A431S probably benign Het
C3ar1 C T 6: 122,850,146 V371M probably damaging Het
Chd1l G A 3: 97,587,167 A399V probably damaging Het
Ckap2l A G 2: 129,285,494 S255P probably damaging Het
Clca3a1 T A 3: 144,730,797 I842F probably benign Het
Col11a2 C T 17: 34,043,317 P176L probably benign Het
Csmd3 T C 15: 47,881,387 D1404G probably damaging Het
Dld G A 12: 31,332,191 P506S probably benign Het
Dsg3 T C 18: 20,539,870 M866T probably benign Het
Ehd1 T C 19: 6,298,345 I451T possibly damaging Het
Fosb T C 7: 19,307,227 T114A probably benign Het
Foxd4 T A 19: 24,900,834 M1L possibly damaging Het
Fstl5 T A 3: 76,707,801 I723N probably benign Het
Gm10549 C A 18: 33,464,305 probably benign Het
Gm11595 G A 11: 99,772,555 R100C unknown Het
Hdlbp A G 1: 93,429,464 S299P possibly damaging Het
Mast4 G A 13: 102,761,382 R650C probably damaging Het
Micu3 A G 8: 40,366,197 T306A probably benign Het
Mylk2 A G 2: 152,913,693 Q259R possibly damaging Het
Nfkbiz T C 16: 55,821,962 N31S probably damaging Het
Nisch A T 14: 31,171,487 probably benign Het
Nudt17 T C 3: 96,707,764 probably benign Het
Olfr1389 A C 11: 49,431,001 H175P probably damaging Het
Olfr292 T C 7: 86,694,552 V32A probably benign Het
Olfr541 T C 7: 140,704,703 W151R probably damaging Het
Oprm1 A C 10: 6,830,063 I242L probably damaging Het
Otud6b A G 4: 14,826,496 probably benign Het
Pamr1 A T 2: 102,642,174 D606V probably damaging Het
Pcf11 T C 7: 92,659,609 probably benign Het
Pom121l2 T C 13: 21,982,332 S258P probably damaging Het
Rcsd1 T A 1: 165,655,834 D196V possibly damaging Het
Sbf2 C T 7: 110,441,552 R356Q probably damaging Het
Serpinf1 A G 11: 75,413,905 probably null Het
Slc22a30 T G 19: 8,335,722 probably benign Het
Strn4 G T 7: 16,816,459 S36I probably benign Het
Taar6 A G 10: 23,985,279 L123P probably damaging Het
Thbs1 G T 2: 118,112,656 R5L unknown Het
Timp3 T C 10: 86,345,786 Y174H probably benign Het
Trpm2 C T 10: 77,932,227 V813M probably damaging Het
Uox C T 3: 146,624,577 R163* probably null Het
Vcan A T 13: 89,704,832 S670T probably damaging Het
Vmn1r65 A T 7: 6,008,652 N194K possibly damaging Het
Other mutations in Cmc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02541:Cmc2 APN 8 116894144 missense probably benign 0.15
R1242:Cmc2 UTSW 8 116911198 missense probably damaging 1.00
R4837:Cmc2 UTSW 8 116894140 missense probably damaging 0.98
R6084:Cmc2 UTSW 8 116889827 utr 3 prime probably benign
R7680:Cmc2 UTSW 8 116894110 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-04-02