Incidental Mutation 'R6691:Calcoco2'
ID530427
Institutional Source Beutler Lab
Gene Symbol Calcoco2
Ensembl Gene ENSMUSG00000006056
Gene Namecalcium binding and coiled-coil domain 2
SynonymsNdp52, Ndp52l1, 2410154J16Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6691 (G1)
Quality Score91.0078
Status Not validated
Chromosome11
Chromosomal Location96099326-96111964 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 96100108 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 247 (S247P)
Ref Sequence ENSEMBL: ENSMUSP00000103309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068686] [ENSMUST00000097162]
Predicted Effect unknown
Transcript: ENSMUST00000068686
AA Change: S268P
SMART Domains Protein: ENSMUSP00000087407
Gene: ENSMUSG00000006056
AA Change: S268P

DomainStartEndE-ValueType
Pfam:CALCOCO1 16 258 4.5e-34 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000097162
AA Change: S247P
SMART Domains Protein: ENSMUSP00000103309
Gene: ENSMUSG00000006056
AA Change: S247P

DomainStartEndE-ValueType
Pfam:CALCOCO1 14 281 2.3e-27 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300009A05Rik A G 9: 63,398,954 Y90H probably damaging Het
Agk A G 6: 40,392,690 D337G probably benign Het
Amn A G 12: 111,275,397 H299R possibly damaging Het
Angptl4 A G 17: 33,780,781 probably null Het
AU040320 G A 4: 126,836,670 M563I possibly damaging Het
Cachd1 T C 4: 100,989,486 M1042T probably benign Het
Cd209c T A 8: 3,945,680 I41L probably benign Het
Ceacam12 T A 7: 18,069,224 V185D possibly damaging Het
Chpt1 A T 10: 88,485,900 probably benign Het
Clca1 G C 3: 145,013,883 A442G probably damaging Het
Cldn8 T C 16: 88,562,535 I167M possibly damaging Het
Cln3 A G 7: 126,579,434 V143A possibly damaging Het
Dusp11 T C 6: 85,961,525 H4R possibly damaging Het
Ephb3 T A 16: 21,214,473 F69Y probably damaging Het
Gm11099 A T 2: 58,859,473 probably benign Het
Grik2 A T 10: 49,272,925 Y521* probably null Het
Igf2r A G 17: 12,689,008 L2143P probably damaging Het
Kcnk1 T C 8: 126,025,231 V192A probably benign Het
Olfr1055 A C 2: 86,347,419 S116A probably damaging Het
Olfr1254 A T 2: 89,788,988 Y121* probably null Het
Parp3 A G 9: 106,473,692 S329P probably benign Het
Pld3 A T 7: 27,532,316 N483K probably benign Het
Rbm33 A T 5: 28,352,546 E252D probably damaging Het
Ryr2 T C 13: 11,594,723 T4406A probably benign Het
Sgsm3 A G 15: 81,008,862 D380G possibly damaging Het
Sorl1 G T 9: 42,002,567 D1355E probably damaging Het
Sptbn1 A G 11: 30,113,984 S1945P probably damaging Het
Ube2m A T 7: 13,036,469 F70I probably damaging Het
Ube3b A G 5: 114,408,124 I664V probably benign Het
Ugt1a7c A G 1: 88,095,656 E179G possibly damaging Het
Vps50 T C 6: 3,504,939 probably null Het
Xpo1 T C 11: 23,286,875 L718P probably damaging Het
Zfp354c A G 11: 50,814,775 I491T probably benign Het
Other mutations in Calcoco2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03286:Calcoco2 APN 11 96103272 missense possibly damaging 0.95
R0671:Calcoco2 UTSW 11 96107528 missense probably damaging 1.00
R1668:Calcoco2 UTSW 11 96102737 missense probably benign 0.33
R4678:Calcoco2 UTSW 11 96103548 missense probably damaging 1.00
R4812:Calcoco2 UTSW 11 96107450 missense probably damaging 1.00
R5481:Calcoco2 UTSW 11 96107543 missense probably damaging 1.00
R5512:Calcoco2 UTSW 11 96103336 missense probably damaging 1.00
R6997:Calcoco2 UTSW 11 96099982 small deletion probably benign
R7289:Calcoco2 UTSW 11 96099997 missense unknown
X0027:Calcoco2 UTSW 11 96107559 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TCACCGGTGCAGATCATTCC -3'
(R):5'- TTTCACTCCAGGTGGCACTG -3'

Sequencing Primer
(F):5'- GGTGCAGATCATTCCACCAATAGG -3'
(R):5'- TGGCACTGGAAGCAACAC -3'
Posted On2018-08-01