Incidental Mutation 'R4235:Cc2d1b'
ID 321056
Institutional Source Beutler Lab
Gene Symbol Cc2d1b
Ensembl Gene ENSMUSG00000028582
Gene Name coiled-coil and C2 domain containing 1B
Synonyms Freud2, A830039B04Rik
MMRRC Submission 041052-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.631) question?
Stock # R4235 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 108477137-108491320 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 108482549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000030320]
AlphaFold Q8BRN9
Predicted Effect probably benign
Transcript: ENSMUST00000030320
SMART Domains Protein: ENSMUSP00000030320
Gene: ENSMUSG00000028582

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 noncoding transcript
Transcript: ENSMUST00000106665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126156
Predicted Effect probably benign
Transcript: ENSMUST00000134844
SMART Domains Protein: ENSMUSP00000123277
Gene: ENSMUSG00000028582

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
Predicted Effect unknown
Transcript: ENSMUST00000139962
AA Change: M122L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150199
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176877
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193462
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176846
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (68/70)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
5730596B20Rik G T 6: 52,155,941 (GRCm39) probably benign Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Atp7b A G 8: 22,501,039 (GRCm39) Y955H possibly damaging Het
Bnc2 A G 4: 84,211,751 (GRCm39) V231A probably damaging Het
Bod1l A G 5: 41,978,798 (GRCm39) S839P probably damaging Het
Casp8 T A 1: 58,872,857 (GRCm39) H264Q possibly damaging Het
Cpne6 A T 14: 55,751,057 (GRCm39) probably benign Het
Ddx1 C T 12: 13,273,858 (GRCm39) V590I possibly damaging Het
Dgkd T A 1: 87,859,704 (GRCm39) L774* probably null Het
Fbxl2 T A 9: 113,818,231 (GRCm39) N205I probably benign Het
Fcgbpl1 T A 7: 27,856,073 (GRCm39) D1953E probably damaging Het
Fkbp15 A T 4: 62,254,693 (GRCm39) I269K probably benign Het
Gm26678 T C 3: 54,540,504 (GRCm39) noncoding transcript Het
Has1 G T 17: 18,070,298 (GRCm39) R208S possibly damaging Het
Hecw1 C G 13: 14,491,724 (GRCm39) A423P probably benign Het
Hspa12b T C 2: 130,980,932 (GRCm39) V162A probably benign Het
Ifi208 T G 1: 173,510,477 (GRCm39) S211A probably benign Het
Ighv6-3 T C 12: 114,355,494 (GRCm39) E65G probably damaging Het
Igkv9-120 A T 6: 68,027,317 (GRCm39) D77V probably benign Het
Impg1 A G 9: 80,252,611 (GRCm39) L523P probably damaging Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kdm2a A G 19: 4,372,549 (GRCm39) I932T probably damaging Het
Krt17 T C 11: 100,148,694 (GRCm39) T279A possibly damaging Het
Lamp1 T C 8: 13,217,192 (GRCm39) V67A possibly damaging Het
Limk1 T C 5: 134,699,332 (GRCm39) I142V probably benign Het
Mamdc2 T C 19: 23,351,381 (GRCm39) N182D possibly damaging Het
Mcpt1 G A 14: 56,256,017 (GRCm39) probably null Het
Med12l T G 3: 59,164,644 (GRCm39) probably null Het
Mfsd10 G T 5: 34,792,969 (GRCm39) T44N probably damaging Het
Mrps27 T C 13: 99,541,549 (GRCm39) S218P probably damaging Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Neil2 A C 14: 63,429,290 (GRCm39) M1R probably null Het
Nelfcd T C 2: 174,268,841 (GRCm39) F587L probably damaging Het
Nfil3 T C 13: 53,122,835 (GRCm39) D23G probably benign Het
Nit2 T C 16: 56,977,523 (GRCm39) K169R probably benign Het
Nxt1 T C 2: 148,517,267 (GRCm39) S3P probably benign Het
Ogt A G X: 100,711,131 (GRCm39) N434D probably damaging Het
Or56a3 T A 7: 104,734,994 (GRCm39) S24T possibly damaging Het
Pcdhga5 A G 18: 37,829,001 (GRCm39) D483G possibly damaging Het
Pramel25 G C 4: 143,521,344 (GRCm39) C320S probably damaging Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rsl1 T C 13: 67,325,226 (GRCm39) probably null Het
Sobp G A 10: 42,898,896 (GRCm39) H230Y probably damaging Het
Sptan1 A G 2: 29,916,600 (GRCm39) E2096G probably damaging Het
Tie1 G T 4: 118,335,602 (GRCm39) S797* probably null Het
Tmem266 T C 9: 55,325,391 (GRCm39) I186T probably damaging Het
Tmem38b T C 4: 53,840,710 (GRCm39) C66R probably damaging Het
Tnfaip6 T C 2: 51,940,876 (GRCm39) F139S probably damaging Het
Tnrc6a T C 7: 122,770,903 (GRCm39) S898P probably benign Het
Trim24 A G 6: 37,941,675 (GRCm39) D911G probably damaging Het
Tyw5 T C 1: 57,427,647 (GRCm39) probably benign Het
Ubr3 C T 2: 69,846,729 (GRCm39) Q1651* probably null Het
Unc13c T A 9: 73,438,234 (GRCm39) I1943F possibly damaging Het
Usp47 T A 7: 111,709,255 (GRCm39) S1334T probably damaging Het
Vmn1r215 T A 13: 23,260,101 (GRCm39) V47E probably benign Het
Vmn1r224 T A 17: 20,639,624 (GRCm39) M67K possibly damaging Het
Wdfy3 T A 5: 102,070,500 (GRCm39) probably null Het
Zfc3h1 T C 10: 115,254,704 (GRCm39) Y1433H 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
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
R7293:Cc2d1b UTSW 4 108,488,873 (GRCm39) missense probably benign 0.40
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'- TAGCTGGCTGTATTCAAAGGC -3'
(R):5'- AGTCCCACTCACCTTTAGGC -3'

Sequencing Primer
(F):5'- GGCTGTATTCAAAGGCCTTCCTG -3'
(R):5'- TTAGGCCTCGCTCACAGC -3'
Posted On 2015-06-12