Incidental Mutation 'R6857:Cc2d2b'
ID 535346
Institutional Source Beutler Lab
Gene Symbol Cc2d2b
Ensembl Gene ENSMUSG00000108929
Gene Name coiled-coil and C2 domain containing 2B
Synonyms EG668310
MMRRC Submission 044959-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R6857 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 40737197-40816187 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40759309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 298 (F298S)
Ref Sequence ENSEMBL: ENSMUSP00000153384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000207801] [ENSMUST00000224596]
AlphaFold A0A286YDU8
Predicted Effect unknown
Transcript: ENSMUST00000207801
AA Change: F298S
Predicted Effect probably benign
Transcript: ENSMUST00000207863
Predicted Effect possibly damaging
Transcript: ENSMUST00000224596
AA Change: F298S

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A G 11: 110,110,514 (GRCm39) L545P possibly damaging Het
Adam4 T C 12: 81,466,723 (GRCm39) T633A possibly damaging Het
Ahnak C T 19: 9,014,532 (GRCm39) Q119* probably null Het
Anxa10 C A 8: 62,514,051 (GRCm39) A239S probably benign Het
B020011L13Rik A T 1: 117,729,018 (GRCm39) H175L probably benign Het
Best2 A G 8: 85,734,452 (GRCm39) V422A probably benign Het
Cd38 T A 5: 44,063,540 (GRCm39) M211K probably damaging Het
Cd3d T G 9: 44,896,902 (GRCm39) M92R probably damaging Het
Cdk5rap2 C A 4: 70,163,633 (GRCm39) E1474* probably null Het
Clvs1 A G 4: 9,449,433 (GRCm39) K341E probably benign Het
Copg2 G T 6: 30,840,533 (GRCm39) D112E possibly damaging Het
Cspg4b A T 13: 113,456,492 (GRCm39) N846I probably damaging Het
Dmxl1 A T 18: 49,997,902 (GRCm39) N697Y probably damaging Het
Dync1h1 T C 12: 110,624,981 (GRCm39) S3803P possibly damaging Het
Ecpas T A 4: 58,814,065 (GRCm39) D1347V probably damaging Het
Epx T A 11: 87,760,781 (GRCm39) K384* probably null Het
Fam135a G C 1: 24,053,870 (GRCm39) D1222E probably damaging Het
Fndc1 T A 17: 7,991,002 (GRCm39) H898L unknown Het
Gapvd1 A G 2: 34,618,389 (GRCm39) I190T probably damaging Het
Hax1 T G 3: 89,904,759 (GRCm39) S122R probably damaging Het
Hdac9 T G 12: 34,443,362 (GRCm39) M272L probably benign Het
Itgb7 T C 15: 102,131,900 (GRCm39) S228G probably damaging Het
Itpr2 C A 6: 146,298,517 (GRCm39) E315* probably null Het
Kctd8 T C 5: 69,454,045 (GRCm39) N331D probably benign Het
Ky G A 9: 102,419,631 (GRCm39) G546E probably damaging Het
Lao1 T C 4: 118,821,023 (GRCm39) probably null Het
Mtmr12 T A 15: 12,263,918 (GRCm39) W427R probably damaging Het
Mxra8 A G 4: 155,927,593 (GRCm39) K434E possibly damaging Het
Myh4 T C 11: 67,140,711 (GRCm39) C676R possibly damaging Het
Nek7 C T 1: 138,443,420 (GRCm39) G178R probably damaging Het
Or5w17 A T 2: 87,583,831 (GRCm39) C169S probably damaging Het
Or8b50 T C 9: 38,518,307 (GRCm39) L182P probably benign Het
Or8k35 A T 2: 86,424,608 (GRCm39) L188H probably damaging Het
Paqr5 G T 9: 61,883,370 (GRCm39) H41N probably damaging Het
Plekha8 T C 6: 54,606,920 (GRCm39) L405P probably damaging Het
Plpbp A G 8: 27,535,454 (GRCm39) N79S possibly damaging Het
Plxnd1 G T 6: 115,970,724 (GRCm39) A348E probably benign Het
Prdm9 T C 17: 15,764,518 (GRCm39) Q754R probably benign Het
Pygm G T 19: 6,443,787 (GRCm39) G583C probably damaging Het
Rgs12 A T 5: 35,187,366 (GRCm39) K213* probably null Het
Serpina3m T C 12: 104,355,585 (GRCm39) L84P probably damaging Het
Tab2 T C 10: 7,796,177 (GRCm39) T102A possibly damaging Het
Tagln3 G T 16: 45,544,599 (GRCm39) A24E probably benign Het
Tanc2 A G 11: 105,801,114 (GRCm39) E1110G possibly damaging Het
Tcf3 T C 10: 80,252,733 (GRCm39) probably null Het
Tmem14a T C 1: 21,299,769 (GRCm39) probably benign Het
Ttn T A 2: 76,748,275 (GRCm39) E4258V possibly damaging Het
Ubr4 G A 4: 139,213,362 (GRCm39) D5104N possibly damaging Het
Ugt2b37 C G 5: 87,388,705 (GRCm39) A503P probably damaging Het
Unc45b A G 11: 82,804,038 (GRCm39) I72V probably benign Het
Vmn1r88 A T 7: 12,912,258 (GRCm39) M205L possibly damaging Het
Vmn2r109 C T 17: 20,760,932 (GRCm39) M808I probably benign Het
Wdr72 G T 9: 74,062,323 (GRCm39) V490L probably damaging Het
Zfp1004 G T 2: 150,033,982 (GRCm39) C132F probably damaging Het
Zfp998 A T 13: 66,580,161 (GRCm39) H107Q probably benign Het
Zgrf1 T A 3: 127,375,096 (GRCm39) V785E probably damaging Het
Zswim7 A T 11: 62,171,955 (GRCm39) probably benign 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
R6747:Cc2d2b UTSW 19 40,784,111 (GRCm39) missense probably benign 0.03
R6799:Cc2d2b UTSW 19 40,779,652 (GRCm39) missense possibly damaging 0.69
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'- CTGGAATTTAAATGCACCTGGC -3'
(R):5'- TGAAGGACAATGTTCTTTGATGCC -3'

Sequencing Primer
(F):5'- GCACCTGGCATGCTATTTTATATTG -3'
(R):5'- GGACAATGTTCTTTGATGCCTGCTC -3'
Posted On 2018-09-12