Incidental Mutation 'R7293:Cc2d1b'
ID 566540
Institutional Source Beutler Lab
Gene Symbol Cc2d1b
Ensembl Gene ENSMUSG00000028582
Gene Name coiled-coil and C2 domain containing 1B
Synonyms Freud2, A830039B04Rik
MMRRC Submission 045398-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.631) question?
Stock # R7293 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 108477137-108491320 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108488873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 770 (F770L)
Ref Sequence ENSEMBL: ENSMUSP00000030320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030320]
AlphaFold Q8BRN9
Predicted Effect probably benign
Transcript: ENSMUST00000030320
AA Change: F770L

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000030320
Gene: ENSMUSG00000028582
AA Change: F770L

DomainStartEndE-ValueType
low complexity region 39 59 N/A INTRINSIC
low complexity region 90 110 N/A INTRINSIC
DM14 167 224 1.11e-20 SMART
DM14 278 335 5.07e-24 SMART
low complexity region 370 382 N/A INTRINSIC
DM14 383 441 8.62e-27 SMART
low complexity region 487 498 N/A INTRINSIC
low complexity region 509 522 N/A INTRINSIC
DM14 527 585 6.44e-26 SMART
coiled coil region 604 626 N/A INTRINSIC
C2 690 804 8.05e-11 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000123277
Gene: ENSMUSG00000028582
AA Change: F691L

DomainStartEndE-ValueType
low complexity region 31 51 N/A INTRINSIC
DM14 108 165 1.11e-20 SMART
DM14 200 257 5.07e-24 SMART
low complexity region 292 304 N/A INTRINSIC
DM14 305 363 8.62e-27 SMART
low complexity region 409 420 N/A INTRINSIC
low complexity region 431 444 N/A INTRINSIC
DM14 449 507 6.44e-26 SMART
coiled coil region 525 547 N/A INTRINSIC
C2 612 726 8.05e-11 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (74/76)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,795,492 (GRCm39) G416E probably damaging Het
Acsl5 G T 19: 55,279,642 (GRCm39) W460L probably damaging Het
Adam2 A G 14: 66,272,634 (GRCm39) F614S probably benign Het
Adamts5 G A 16: 85,696,833 (GRCm39) T108I probably benign Het
Agmat C T 4: 141,483,246 (GRCm39) Q227* probably null Het
Alg11 A G 8: 22,555,395 (GRCm39) N219D probably damaging Het
Amhr2 A G 15: 102,355,828 (GRCm39) T258A probably benign Het
Ankrd53 A G 6: 83,740,178 (GRCm39) E82G probably null Het
Blzf1 T A 1: 164,123,452 (GRCm39) T292S possibly damaging Het
Capza1 T C 3: 104,748,151 (GRCm39) D71G probably benign Het
Cckbr A T 7: 105,083,852 (GRCm39) Q260L probably benign Het
Cep162 T C 9: 87,085,836 (GRCm39) T1163A probably benign Het
Chd9 T C 8: 91,760,707 (GRCm39) S2151P unknown Het
Clk1 T A 1: 58,453,772 (GRCm39) T301S probably benign Het
Cmya5 T A 13: 93,229,305 (GRCm39) S1928C possibly damaging Het
Col24a1 C T 3: 145,192,059 (GRCm39) Q1273* probably null Het
Col4a4 T C 1: 82,501,664 (GRCm39) D363G unknown Het
Copb1 A T 7: 113,818,837 (GRCm39) M827K probably damaging Het
Crocc C T 4: 140,770,867 (GRCm39) A351T probably benign Het
Crybg1 T C 10: 43,879,428 (GRCm39) T587A probably damaging Het
Csrnp3 A G 2: 65,779,344 (GRCm39) R19G probably damaging Het
Cyb5rl T C 4: 106,938,143 (GRCm39) I165T probably damaging Het
Dnah1 A T 14: 31,009,820 (GRCm39) I1916N probably damaging Het
Dvl1 T C 4: 155,940,625 (GRCm39) M415T possibly damaging Het
Dync2h1 A G 9: 7,001,454 (GRCm39) S3845P possibly damaging Het
Eif3b A G 5: 140,405,183 (GRCm39) Q23R probably benign Het
Esam G T 9: 37,449,020 (GRCm39) R376L probably damaging Het
Fat3 G C 9: 15,826,336 (GRCm39) H391D Het
Fat3 A C 9: 15,826,592 (GRCm39) S305R Het
Fgd3 T C 13: 49,418,134 (GRCm39) D644G probably benign Het
Fgf7 T C 2: 125,877,672 (GRCm39) L13P probably damaging Het
Gas2l1 A G 11: 5,014,338 (GRCm39) Y41H probably damaging Het
Glg1 A T 8: 111,895,375 (GRCm39) I812N probably damaging Het
Glp1r C T 17: 31,143,599 (GRCm39) H212Y probably benign Het
Gm5622 G T 14: 51,893,339 (GRCm39) E89* probably null Het
Gpr158 G A 2: 21,581,750 (GRCm39) V410I possibly damaging Het
Ighv1-53 A T 12: 115,122,441 (GRCm39) C5* probably null Het
Itgb2l A C 16: 96,227,996 (GRCm39) Y502* probably null Het
Jakmip1 G A 5: 37,284,817 (GRCm39) V635I probably benign Het
Kplce A T 3: 92,776,126 (GRCm39) C186S probably benign Het
Krt23 C T 11: 99,374,682 (GRCm39) M270I probably benign Het
Larp1b C T 3: 40,939,879 (GRCm39) A344V Het
Lin28b T C 10: 45,295,282 (GRCm39) M134V probably benign Het
Lrrc19 T A 4: 94,526,627 (GRCm39) Y310F probably benign Het
Lyst T A 13: 13,854,822 (GRCm39) D2397E probably benign Het
Map6 A G 7: 98,985,740 (GRCm39) N751S possibly damaging Het
Mgrn1 G A 16: 4,750,084 (GRCm39) D494N probably benign Het
Myh6 A G 14: 55,184,631 (GRCm39) F1567L probably benign Het
Myo9b T C 8: 71,778,549 (GRCm39) V461A probably benign Het
Ncan A T 8: 70,567,861 (GRCm39) S84T probably damaging Het
Nlrp9a G A 7: 26,270,694 (GRCm39) C908Y probably damaging Het
Or4c3 A T 2: 89,851,871 (GRCm39) Y180N probably damaging Het
Or4f4b A G 2: 111,313,699 (GRCm39) probably null Het
Or52n20 T A 7: 104,319,925 (GRCm39) N5K probably damaging Het
Or8g31-ps1 A T 9: 39,276,130 (GRCm39) M92L probably benign Het
Parp4 CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATATTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC 14: 56,885,303 (GRCm39) probably benign Het
Pld1 C A 3: 28,141,435 (GRCm39) T666K probably damaging Het
Pnpla6 A G 8: 3,588,068 (GRCm39) Y1107C probably damaging Het
Pramel7 A C 2: 87,322,706 (GRCm39) N19K probably benign Het
Prh1 C G 6: 132,548,721 (GRCm39) P76R unknown Het
Prkd2 T C 7: 16,579,865 (GRCm39) V121A possibly damaging Het
Ptprq G A 10: 107,471,367 (GRCm39) Q1345* probably null Het
Ryr3 T A 2: 112,732,948 (GRCm39) T653S probably benign Het
Sall2 G T 14: 52,551,868 (GRCm39) Y442* probably null Het
Slc23a2 A C 2: 131,931,026 (GRCm39) F158V probably benign Het
Smg1 C A 7: 117,765,322 (GRCm39) R1954L unknown Het
Snx31 G A 15: 36,523,596 (GRCm39) T362I probably damaging Het
Taf3 G T 2: 9,956,901 (GRCm39) T422K probably damaging Het
Tcfl5 T C 2: 180,283,958 (GRCm39) D142G probably benign Het
Tmx1 A G 12: 70,507,325 (GRCm39) T188A probably damaging Het
Tnfrsf11a A G 1: 105,735,866 (GRCm39) probably null Het
Trio A T 15: 27,871,375 (GRCm39) C640S possibly damaging Het
Ulk4 T G 9: 121,084,190 (GRCm39) N427T probably damaging Het
Vmn1r202 T C 13: 22,685,872 (GRCm39) M182V probably benign Het
Vmn1r214 C T 13: 23,218,839 (GRCm39) A111V probably benign Het
Other mutations in Cc2d1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Cc2d1b APN 4 108,484,575 (GRCm39) missense probably damaging 1.00
IGL00507:Cc2d1b APN 4 108,486,927 (GRCm39) missense probably damaging 1.00
IGL00596:Cc2d1b APN 4 108,484,503 (GRCm39) missense probably damaging 1.00
IGL02800:Cc2d1b APN 4 108,483,333 (GRCm39) missense probably benign 0.00
IGL02937:Cc2d1b APN 4 108,489,091 (GRCm39) missense probably damaging 1.00
R0440:Cc2d1b UTSW 4 108,483,013 (GRCm39) critical splice donor site probably null
R1513:Cc2d1b UTSW 4 108,490,423 (GRCm39) missense probably damaging 1.00
R1592:Cc2d1b UTSW 4 108,483,868 (GRCm39) unclassified probably benign
R1663:Cc2d1b UTSW 4 108,480,744 (GRCm39) missense probably damaging 1.00
R4235:Cc2d1b UTSW 4 108,482,549 (GRCm39) intron probably benign
R4361:Cc2d1b UTSW 4 108,481,947 (GRCm39) intron probably benign
R4739:Cc2d1b UTSW 4 108,485,239 (GRCm39) missense probably benign 0.02
R5068:Cc2d1b UTSW 4 108,480,661 (GRCm39) missense possibly damaging 0.92
R5152:Cc2d1b UTSW 4 108,483,283 (GRCm39) missense probably benign 0.10
R5271:Cc2d1b UTSW 4 108,480,826 (GRCm39) intron probably benign
R5520:Cc2d1b UTSW 4 108,483,556 (GRCm39) missense possibly damaging 0.53
R6196:Cc2d1b UTSW 4 108,490,422 (GRCm39) missense probably damaging 1.00
R6197:Cc2d1b UTSW 4 108,490,422 (GRCm39) missense probably damaging 1.00
R6198:Cc2d1b UTSW 4 108,490,422 (GRCm39) missense probably damaging 1.00
R6220:Cc2d1b UTSW 4 108,490,422 (GRCm39) missense probably damaging 1.00
R6299:Cc2d1b UTSW 4 108,485,335 (GRCm39) missense probably benign 0.01
R7244:Cc2d1b UTSW 4 108,486,799 (GRCm39) missense probably benign 0.32
R8105:Cc2d1b UTSW 4 108,485,130 (GRCm39) missense possibly damaging 0.87
R8835:Cc2d1b UTSW 4 108,484,264 (GRCm39) missense probably damaging 0.96
R8991:Cc2d1b UTSW 4 108,482,143 (GRCm39) missense probably benign 0.02
R9022:Cc2d1b UTSW 4 108,484,617 (GRCm39) critical splice donor site probably null
R9068:Cc2d1b UTSW 4 108,482,062 (GRCm39) missense probably damaging 1.00
R9196:Cc2d1b UTSW 4 108,485,134 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TGACAGTCTGAATTGAAGGCAG -3'
(R):5'- TCCAATTTCAAGTGTGCTGTGC -3'

Sequencing Primer
(F):5'- TCTGAATTGAAGGCAGTGAGATCC -3'
(R):5'- AATTTCAAGTGTGCTGTGCCAACC -3'
Posted On 2019-06-26