Incidental Mutation 'R6747:Cc2d2b'
ID 530623
Institutional Source Beutler Lab
Gene Symbol Cc2d2b
Ensembl Gene ENSMUSG00000108929
Gene Name coiled-coil and C2 domain containing 2B
Synonyms EG668310
MMRRC Submission 044864-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R6747 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 40737197-40816187 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 40784111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 826 (C826Y)
Ref Sequence ENSEMBL: ENSMUSP00000153384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000207801] [ENSMUST00000224596]
AlphaFold A0A286YDU8
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207791
Predicted Effect unknown
Transcript: ENSMUST00000207801
AA Change: C636Y
Predicted Effect probably benign
Transcript: ENSMUST00000224596
AA Change: C826Y

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency 97% (68/70)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 C T 3: 121,919,962 (GRCm39) probably null Het
Acyp1 C T 12: 85,325,679 (GRCm39) V107I probably null Het
Aftph T C 11: 20,676,144 (GRCm39) probably null Het
Agtpbp1 A T 13: 59,692,167 (GRCm39) probably null Het
Arhgap15 C A 2: 44,006,689 (GRCm39) P269T probably damaging Het
Arhgap30 T C 1: 171,235,297 (GRCm39) V557A probably damaging Het
Asb3 T A 11: 31,031,493 (GRCm39) M410K probably benign Het
B4galnt2 T C 11: 95,759,460 (GRCm39) probably null Het
Birc2 A G 9: 7,860,262 (GRCm39) probably null Het
Cav2 A T 6: 17,286,950 (GRCm39) N69Y probably damaging Het
Cenpf T A 1: 189,385,051 (GRCm39) T2410S probably benign Het
Chchd1 A G 14: 20,753,448 (GRCm39) D24G probably benign Het
Cmip G A 8: 118,163,618 (GRCm39) G450S probably benign Het
Col11a1 C T 3: 114,006,099 (GRCm39) Q534* probably null Het
Col3a1 G T 1: 45,377,782 (GRCm39) probably benign Het
Cox4i1 T C 8: 121,399,969 (GRCm39) I31T possibly damaging Het
Cstf3 G T 2: 104,477,112 (GRCm39) V168F probably damaging Het
Dapk1 T C 13: 60,873,154 (GRCm39) I352T probably benign Het
Ddx52 T C 11: 83,846,128 (GRCm39) V456A probably damaging Het
Dmxl2 A T 9: 54,323,372 (GRCm39) H1337Q probably damaging Het
Dnah7a T C 1: 53,675,221 (GRCm39) T369A probably benign Het
Dppa1 T A 11: 46,516,422 (GRCm39) I8F unknown Het
Ebf1 G T 11: 44,774,641 (GRCm39) V213F probably damaging Het
Foxb2 C A 19: 16,850,197 (GRCm39) E270* probably null Het
Gclc A T 9: 77,695,527 (GRCm39) R450W probably damaging Het
Grin2d T C 7: 45,511,692 (GRCm39) E251G probably damaging Het
Hal A T 10: 93,336,539 (GRCm39) N423Y probably damaging Het
Krtap4-8 T A 11: 99,670,917 (GRCm39) I185F unknown Het
Lrp3 T A 7: 34,910,862 (GRCm39) Q61L probably benign Het
Met A C 6: 17,571,466 (GRCm39) Q1296H probably damaging Het
Mphosph9 T A 5: 124,435,762 (GRCm39) N557I possibly damaging Het
Mrpl46 C A 7: 78,432,729 (GRCm39) W16C probably benign Het
Myh13 G A 11: 67,241,245 (GRCm39) R874Q probably damaging Het
Nelfb G A 2: 25,093,393 (GRCm39) T453I probably benign Het
Nos2 A G 11: 78,843,780 (GRCm39) D909G probably damaging Het
Nr5a2 T C 1: 136,810,082 (GRCm39) E431G possibly damaging Het
Nsmce2 A G 15: 59,463,573 (GRCm39) D149G probably benign Het
Or52b1 C T 7: 104,979,234 (GRCm39) R55H probably benign Het
Or5ac21 T C 16: 59,124,004 (GRCm39) F164L probably benign Het
Pcbp4 C A 9: 106,337,847 (GRCm39) probably null Het
Peg10 A G 6: 4,757,137 (GRCm39) probably benign Het
Pms2 C T 5: 143,862,237 (GRCm39) P154L probably benign Het
Pou6f2 A C 13: 18,303,772 (GRCm39) L112R probably benign Het
Pramel30 T C 4: 144,059,548 (GRCm39) W420R probably benign Het
Prdm6 A T 18: 53,598,118 (GRCm39) probably benign Het
Prob1 G A 18: 35,788,207 (GRCm39) R12W probably damaging Het
Rif1 T A 2: 51,968,275 (GRCm39) probably null Het
Rpl9-ps6 A G 19: 32,443,543 (GRCm39) S137P probably benign Het
Rsf1 GGCG GGCGACGGCAGCG 7: 97,229,113 (GRCm39) probably benign Homo
Sec23ip A G 7: 128,354,573 (GRCm39) silent Het
Slc38a9 T C 13: 112,826,714 (GRCm39) C151R probably benign Het
Slc39a8 T C 3: 135,554,941 (GRCm39) probably null Het
Slc6a18 C A 13: 73,826,110 (GRCm39) probably benign Het
Snw1 T C 12: 87,511,480 (GRCm39) D57G probably damaging Het
Sox6 C G 7: 115,140,966 (GRCm39) R505P probably damaging Het
Speg T C 1: 75,387,039 (GRCm39) probably null Het
Spire2 C T 8: 124,083,585 (GRCm39) R190C probably damaging Het
Stard9 A C 2: 120,528,864 (GRCm39) H1707P possibly damaging Het
Tenm3 G T 8: 48,796,278 (GRCm39) T237K probably damaging Het
Themis2 T A 4: 132,523,573 (GRCm39) E31V possibly damaging Het
Trim56 T G 5: 137,143,375 (GRCm39) Q47P probably damaging Het
Trim58 T C 11: 58,542,090 (GRCm39) I350T probably benign Het
Ttll7 C T 3: 146,649,811 (GRCm39) P639S probably benign Het
Ubxn6 A G 17: 56,377,650 (GRCm39) probably null Het
Vmn2r114 A T 17: 23,528,850 (GRCm39) F417L probably benign Het
Vmn2r29 T A 7: 7,234,421 (GRCm39) M822L probably benign Het
Vps9d1 T C 8: 123,980,746 (GRCm39) D27G probably damaging Het
Wdr3 C T 3: 100,046,040 (GRCm39) R931Q probably damaging Het
Whamm G A 7: 81,228,050 (GRCm39) probably null Het
Zcchc24 T C 14: 25,757,457 (GRCm39) H142R probably damaging Het
Zfp292 T C 4: 34,806,894 (GRCm39) K2050R probably damaging Het
Other mutations in Cc2d2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
mortal UTSW 19 40,797,898 (GRCm39) missense probably benign 0.06
Shuffeloff UTSW 19 40,813,483 (GRCm39) missense probably damaging 0.99
1mM(1):Cc2d2b UTSW 19 40,784,129 (GRCm39) missense possibly damaging 0.60
R6163:Cc2d2b UTSW 19 40,744,950 (GRCm39) missense probably benign 0.31
R6481:Cc2d2b UTSW 19 40,790,839 (GRCm39) missense possibly damaging 0.95
R6651:Cc2d2b UTSW 19 40,766,573 (GRCm39) missense probably damaging 0.97
R6799:Cc2d2b UTSW 19 40,779,652 (GRCm39) missense possibly damaging 0.69
R6857:Cc2d2b UTSW 19 40,759,309 (GRCm39) missense possibly damaging 0.62
R6869:Cc2d2b UTSW 19 40,797,898 (GRCm39) missense probably benign 0.06
R6881:Cc2d2b UTSW 19 40,813,483 (GRCm39) missense probably damaging 0.99
R6900:Cc2d2b UTSW 19 40,813,518 (GRCm39) missense probably null 0.08
R6902:Cc2d2b UTSW 19 40,804,733 (GRCm39) missense possibly damaging 0.93
R6960:Cc2d2b UTSW 19 40,773,506 (GRCm39) missense possibly damaging 0.85
R7016:Cc2d2b UTSW 19 40,784,248 (GRCm39) missense possibly damaging 0.85
R7039:Cc2d2b UTSW 19 40,790,845 (GRCm39) missense probably damaging 1.00
R7072:Cc2d2b UTSW 19 40,748,803 (GRCm39) missense unknown
R7192:Cc2d2b UTSW 19 40,762,881 (GRCm39) missense unknown
R7226:Cc2d2b UTSW 19 40,779,751 (GRCm39) missense unknown
R7303:Cc2d2b UTSW 19 40,797,438 (GRCm39) missense unknown
R7324:Cc2d2b UTSW 19 40,797,552 (GRCm39) missense unknown
R7503:Cc2d2b UTSW 19 40,783,056 (GRCm39) missense unknown
R7727:Cc2d2b UTSW 19 40,744,974 (GRCm39) missense probably benign 0.03
R7774:Cc2d2b UTSW 19 40,754,161 (GRCm39) missense unknown
R7830:Cc2d2b UTSW 19 40,753,801 (GRCm39) missense possibly damaging 0.95
R7923:Cc2d2b UTSW 19 40,795,293 (GRCm39) missense possibly damaging 0.93
R7937:Cc2d2b UTSW 19 40,765,736 (GRCm39) missense
R8306:Cc2d2b UTSW 19 40,804,228 (GRCm39) nonsense probably null
R8367:Cc2d2b UTSW 19 40,754,419 (GRCm39) missense unknown
R8903:Cc2d2b UTSW 19 40,797,726 (GRCm39) missense unknown
R9056:Cc2d2b UTSW 19 40,784,216 (GRCm39) missense unknown
R9142:Cc2d2b UTSW 19 40,753,845 (GRCm39) nonsense probably null
R9256:Cc2d2b UTSW 19 40,797,848 (GRCm39) missense unknown
R9373:Cc2d2b UTSW 19 40,784,167 (GRCm39) missense unknown
R9500:Cc2d2b UTSW 19 40,797,840 (GRCm39) missense unknown
R9503:Cc2d2b UTSW 19 40,804,275 (GRCm39) missense unknown
R9525:Cc2d2b UTSW 19 40,773,430 (GRCm39) missense probably damaging 0.99
R9534:Cc2d2b UTSW 19 40,799,068 (GRCm39) nonsense probably null
R9667:Cc2d2b UTSW 19 40,753,927 (GRCm39) missense unknown
R9752:Cc2d2b UTSW 19 40,781,271 (GRCm39) missense probably damaging 0.96
R9764:Cc2d2b UTSW 19 40,804,299 (GRCm39) missense unknown
R9798:Cc2d2b UTSW 19 40,783,080 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GTCACTTCCTTTGTAAGCTCAGG -3'
(R):5'- CACATTTAGGAAACGTGTTCTGC -3'

Sequencing Primer
(F):5'- CACTTCCTTTGTAAGCTCAGGAAATC -3'
(R):5'- GAAACGTGTTCTGCAACTGC -3'
Posted On 2018-08-01