Incidental Mutation 'R1635:Cc2d2a'
ID 173057
Institutional Source Beutler Lab
Gene Symbol Cc2d2a
Ensembl Gene ENSMUSG00000039765
Gene Name coiled-coil and C2 domain containing 2A
Synonyms b2b1035Clo, 5730509K17Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.874) question?
Stock # R1635 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 43662346-43740972 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43722470 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 1076 (W1076R)
Ref Sequence ENSEMBL: ENSMUSP00000114349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048150] [ENSMUST00000125866]
AlphaFold Q8CFW7
Predicted Effect probably damaging
Transcript: ENSMUST00000048150
AA Change: W1130R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: W1130R

DomainStartEndE-ValueType
low complexity region 26 41 N/A INTRINSIC
low complexity region 58 67 N/A INTRINSIC
low complexity region 124 136 N/A INTRINSIC
low complexity region 203 217 N/A INTRINSIC
coiled coil region 472 501 N/A INTRINSIC
coiled coil region 553 582 N/A INTRINSIC
Pfam:CC2D2AN-C2 645 817 2e-36 PFAM
low complexity region 1005 1017 N/A INTRINSIC
low complexity region 1024 1036 N/A INTRINSIC
C2 1048 1208 3.43e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000125866
AA Change: W1076R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: W1076R

DomainStartEndE-ValueType
low complexity region 9 18 N/A INTRINSIC
low complexity region 75 87 N/A INTRINSIC
low complexity region 154 168 N/A INTRINSIC
coiled coil region 423 452 N/A INTRINSIC
coiled coil region 504 533 N/A INTRINSIC
Pfam:CC2D2AN-C2 596 768 7.7e-44 PFAM
low complexity region 970 982 N/A INTRINSIC
C2 994 1154 2.3e-7 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality with multiorgan defects related to cilia biogenesis. Homozygotes for a gene trap allele show randomized body axis, holoprosencephaly, and microphthalmia. Homozygotes for an ENU-induced allele show heterotaxia, congenital heart anomalies, kidney and eye defects, polydactyly, and cleft palate. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted, other(4) Gene trapped(1)

Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A T 2: 25,444,856 (GRCm38) I1947F probably benign Het
Adgrd1 G T 5: 129,128,907 (GRCm38) V182F probably damaging Het
Agmat A G 4: 141,747,069 (GRCm38) D87G probably damaging Het
AI182371 T C 2: 35,088,737 (GRCm38) probably null Het
Anapc1 G T 2: 128,628,532 (GRCm38) H1559Q probably damaging Het
Ankar T C 1: 72,650,138 (GRCm38) Y1278C probably damaging Het
Arhgef2 A T 3: 88,639,321 (GRCm38) probably null Het
Arsi G A 18: 60,916,651 (GRCm38) G202E probably benign Het
Banp A T 8: 122,001,011 (GRCm38) I130F probably damaging Het
C130050O18Rik G T 5: 139,414,493 (GRCm38) R100S probably benign Het
Carmil3 A G 14: 55,496,282 (GRCm38) T374A possibly damaging Het
Cdc34 T G 10: 79,688,054 (GRCm38) S235A probably benign Het
Cdh8 G T 8: 99,031,024 (GRCm38) H647Q probably damaging Het
Cdk1 A T 10: 69,338,547 (GRCm38) L282Q probably damaging Het
Ceacam3 A G 7: 17,159,977 (GRCm38) D471G probably damaging Het
Cltc A T 11: 86,757,279 (GRCm38) I4N probably benign Het
Cntfr T A 4: 41,658,816 (GRCm38) E305V probably damaging Het
Cwh43 T A 5: 73,434,310 (GRCm38) I496N probably damaging Het
Cyp2f2 A G 7: 27,129,724 (GRCm38) N218S probably benign Het
D16Ertd472e A G 16: 78,546,504 (GRCm38) probably null Het
Dab2 A G 15: 6,429,870 (GRCm38) Q400R possibly damaging Het
Dapl1 A T 2: 59,496,562 (GRCm38) I51F probably benign Het
Drc7 G A 8: 95,074,332 (GRCm38) probably null Het
Etl4 A G 2: 20,806,408 (GRCm38) T1101A probably damaging Het
Fam83c C A 2: 155,830,051 (GRCm38) R488M possibly damaging Het
Fam96b A T 8: 104,640,988 (GRCm38) I108N possibly damaging Het
Fbxo42 A G 4: 141,200,529 (GRCm38) T707A probably damaging Het
Fcmr A T 1: 130,876,185 (GRCm38) probably null Het
Fer1l6 G C 15: 58,647,081 (GRCm38) K1687N probably damaging Het
Fgd4 G A 16: 16,475,029 (GRCm38) R275* probably null Het
Fxr2 G A 11: 69,641,313 (GRCm38) C87Y possibly damaging Het
Gja4 A T 4: 127,312,679 (GRCm38) I97N probably damaging Het
Gm136 A G 4: 34,750,919 (GRCm38) probably null Het
Gm14496 A G 2: 182,001,044 (GRCm38) D836G possibly damaging Het
Gm8882 A G 6: 132,363,006 (GRCm38) probably null Het
Grm3 T A 5: 9,511,520 (GRCm38) T777S probably damaging Het
Guca2b A G 4: 119,657,715 (GRCm38) Y50H probably damaging Het
Herc2 C T 7: 56,136,667 (GRCm38) P1587S probably benign Het
Hmcn1 C T 1: 150,669,558 (GRCm38) S2766N probably benign Het
Idi2 T A 13: 8,959,419 (GRCm38) I224K probably damaging Het
Kmt2a A T 9: 44,824,369 (GRCm38) probably benign Het
Lonp2 A T 8: 86,713,450 (GRCm38) M693L possibly damaging Het
Megf8 G T 7: 25,346,747 (GRCm38) M1525I possibly damaging Het
Mgme1 T C 2: 144,279,098 (GRCm38) V276A possibly damaging Het
Mief2 G T 11: 60,731,408 (GRCm38) W268L probably damaging Het
Mpped1 C T 15: 83,791,990 (GRCm38) probably benign Het
Mreg T C 1: 72,192,197 (GRCm38) N34S probably benign Het
Myf6 T C 10: 107,494,673 (GRCm38) Y11C probably damaging Het
Myh9 A T 15: 77,775,899 (GRCm38) D56E probably benign Het
Myh9 C A 15: 77,771,167 (GRCm38) Q1196H probably benign Het
Myo5c A T 9: 75,277,075 (GRCm38) R949S probably benign Het
Ncapg2 TAA TA 12: 116,434,685 (GRCm38) probably null Het
Nfx1 T A 4: 40,977,004 (GRCm38) V226E probably benign Het
Nlrp10 T A 7: 108,924,530 (GRCm38) K581M possibly damaging Het
Nmd3 T G 3: 69,739,984 (GRCm38) I273S probably benign Het
Olfr1264 A T 2: 90,021,970 (GRCm38) I32N possibly damaging Het
P4hb T C 11: 120,571,616 (GRCm38) E88G probably damaging Het
Pcnx3 A T 19: 5,665,745 (GRCm38) H1444Q probably benign Het
Pdia4 A T 6: 47,799,199 (GRCm38) F421L possibly damaging Het
Picalm T A 7: 90,191,251 (GRCm38) S538T probably damaging Het
Ppp2r2b T A 18: 43,059,210 (GRCm38) I11F probably benign Het
Ptk7 C T 17: 46,573,534 (GRCm38) E757K possibly damaging Het
Rbm22 T G 18: 60,561,268 (GRCm38) C24W probably damaging Het
Rev3l A G 10: 39,806,662 (GRCm38) D288G probably damaging Het
Rgs18 T A 1: 144,754,053 (GRCm38) H156L probably benign Het
Rnf213 A G 11: 119,442,579 (GRCm38) I2871M probably damaging Het
Rrm2b A T 15: 37,945,084 (GRCm38) M137K probably damaging Het
Rrp12 A T 19: 41,868,785 (GRCm38) D1183E probably benign Het
Sacs G A 14: 61,203,828 (GRCm38) V1108M probably damaging Het
Scube2 A T 7: 109,843,214 (GRCm38) D270E possibly damaging Het
Serpina3a T A 12: 104,116,478 (GRCm38) F170Y probably damaging Het
Serpinb3b T C 1: 107,154,673 (GRCm38) E287G probably benign Het
Slamf8 C T 1: 172,584,619 (GRCm38) V130M probably damaging Het
Slc5a3 T C 16: 92,077,396 (GRCm38) S114P possibly damaging Het
Sos1 T A 17: 80,422,679 (GRCm38) probably null Het
Sox10 A T 15: 79,156,460 (GRCm38) D293E probably damaging Het
Sphk1 A G 11: 116,535,770 (GRCm38) D177G probably damaging Het
Sphkap T G 1: 83,278,400 (GRCm38) M543L probably benign Het
Syt13 A T 2: 92,953,415 (GRCm38) K343N probably damaging Het
Tatdn3 A G 1: 191,060,176 (GRCm38) M34T probably benign Het
Timd4 T G 11: 46,842,162 (GRCm38) V305G possibly damaging Het
Tnnc2 T C 2: 164,777,592 (GRCm38) I111V probably benign Het
Togaram2 C T 17: 71,697,851 (GRCm38) P301L probably benign Het
Trpc3 T C 3: 36,640,627 (GRCm38) N726S probably damaging Het
Tspear T A 10: 77,870,419 (GRCm38) L341H possibly damaging Het
Ugt1a5 T A 1: 88,166,083 (GRCm38) probably benign Het
Ulk3 A T 9: 57,593,160 (GRCm38) probably null Het
Unc5d T A 8: 28,760,749 (GRCm38) I297L probably benign Het
Usp20 A G 2: 31,018,818 (GRCm38) I804V probably benign Het
Usp22 G T 11: 61,161,318 (GRCm38) C278* probably null Het
Usp53 A T 3: 122,934,223 (GRCm38) N903K probably benign Het
V1rd19 T C 7: 24,003,387 (GRCm38) F93L probably benign Het
Zdbf2 T A 1: 63,304,334 (GRCm38) V624E possibly damaging Het
Zfyve16 A T 13: 92,509,020 (GRCm38) S1073T probably damaging Het
Zkscan8 T C 13: 21,526,595 (GRCm38) H115R possibly damaging Het
Other mutations in Cc2d2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Cc2d2a APN 5 43,724,380 (GRCm38) splice site probably benign
IGL00937:Cc2d2a APN 5 43,688,122 (GRCm38) critical splice acceptor site probably null
IGL01322:Cc2d2a APN 5 43,689,003 (GRCm38) missense probably benign 0.00
IGL01349:Cc2d2a APN 5 43,723,784 (GRCm38) missense probably benign 0.01
IGL01448:Cc2d2a APN 5 43,684,185 (GRCm38) missense possibly damaging 0.65
IGL01871:Cc2d2a APN 5 43,688,969 (GRCm38) missense probably damaging 0.98
IGL01947:Cc2d2a APN 5 43,688,237 (GRCm38) missense probably damaging 0.96
IGL01976:Cc2d2a APN 5 43,683,115 (GRCm38) missense probably benign 0.02
IGL02113:Cc2d2a APN 5 43,685,248 (GRCm38) splice site probably null
IGL02364:Cc2d2a APN 5 43,735,450 (GRCm38) missense probably damaging 1.00
IGL02448:Cc2d2a APN 5 43,683,205 (GRCm38) splice site probably benign
IGL02458:Cc2d2a APN 5 43,718,554 (GRCm38) missense probably benign 0.01
IGL02542:Cc2d2a APN 5 43,688,910 (GRCm38) splice site probably benign
IGL02834:Cc2d2a APN 5 43,714,521 (GRCm38) nonsense probably null
IGL02940:Cc2d2a APN 5 43,728,294 (GRCm38) splice site probably null
IGL03003:Cc2d2a APN 5 43,671,266 (GRCm38) missense probably benign 0.22
IGL03183:Cc2d2a APN 5 43,732,379 (GRCm38) missense probably damaging 1.00
C9142:Cc2d2a UTSW 5 43,735,457 (GRCm38) splice site probably benign
P0028:Cc2d2a UTSW 5 43,684,199 (GRCm38) missense probably benign
R0193:Cc2d2a UTSW 5 43,736,118 (GRCm38) missense probably damaging 1.00
R0201:Cc2d2a UTSW 5 43,737,512 (GRCm38) missense probably damaging 1.00
R0211:Cc2d2a UTSW 5 43,688,266 (GRCm38) splice site probably null
R0243:Cc2d2a UTSW 5 43,696,638 (GRCm38) splice site probably benign
R0317:Cc2d2a UTSW 5 43,706,901 (GRCm38) critical splice donor site probably null
R0453:Cc2d2a UTSW 5 43,703,294 (GRCm38) missense probably benign 0.00
R0558:Cc2d2a UTSW 5 43,724,387 (GRCm38) splice site probably benign
R0624:Cc2d2a UTSW 5 43,730,029 (GRCm38) missense probably benign
R0634:Cc2d2a UTSW 5 43,681,381 (GRCm38) splice site probably benign
R1503:Cc2d2a UTSW 5 43,695,239 (GRCm38) missense probably damaging 1.00
R1686:Cc2d2a UTSW 5 43,739,371 (GRCm38) missense possibly damaging 0.81
R1707:Cc2d2a UTSW 5 43,723,688 (GRCm38) splice site probably null
R1715:Cc2d2a UTSW 5 43,718,661 (GRCm38) missense probably damaging 0.97
R1765:Cc2d2a UTSW 5 43,714,531 (GRCm38) missense probably damaging 0.99
R1794:Cc2d2a UTSW 5 43,688,252 (GRCm38) missense probably damaging 1.00
R1881:Cc2d2a UTSW 5 43,740,828 (GRCm38) missense probably damaging 0.99
R1917:Cc2d2a UTSW 5 43,706,222 (GRCm38) missense probably damaging 1.00
R2005:Cc2d2a UTSW 5 43,726,373 (GRCm38) critical splice donor site probably null
R2201:Cc2d2a UTSW 5 43,684,033 (GRCm38) splice site probably benign
R2244:Cc2d2a UTSW 5 43,732,433 (GRCm38) missense probably damaging 1.00
R2368:Cc2d2a UTSW 5 43,703,888 (GRCm38) missense probably benign
R2442:Cc2d2a UTSW 5 43,671,305 (GRCm38) critical splice donor site probably null
R2511:Cc2d2a UTSW 5 43,735,395 (GRCm38) missense probably damaging 0.99
R3023:Cc2d2a UTSW 5 43,685,251 (GRCm38) splice site probably null
R3147:Cc2d2a UTSW 5 43,709,155 (GRCm38) missense probably damaging 1.00
R3148:Cc2d2a UTSW 5 43,709,155 (GRCm38) missense probably damaging 1.00
R3426:Cc2d2a UTSW 5 43,736,109 (GRCm38) missense probably benign 0.00
R3609:Cc2d2a UTSW 5 43,712,326 (GRCm38) missense probably damaging 0.99
R3610:Cc2d2a UTSW 5 43,712,326 (GRCm38) missense probably damaging 0.99
R3611:Cc2d2a UTSW 5 43,712,326 (GRCm38) missense probably damaging 0.99
R3839:Cc2d2a UTSW 5 43,718,714 (GRCm38) missense probably benign
R3870:Cc2d2a UTSW 5 43,718,691 (GRCm38) nonsense probably null
R4334:Cc2d2a UTSW 5 43,683,134 (GRCm38) missense probably benign 0.00
R4913:Cc2d2a UTSW 5 43,739,323 (GRCm38) missense probably benign 0.12
R5179:Cc2d2a UTSW 5 43,688,221 (GRCm38) missense possibly damaging 0.82
R5315:Cc2d2a UTSW 5 43,720,433 (GRCm38) missense probably damaging 0.99
R5352:Cc2d2a UTSW 5 43,706,213 (GRCm38) missense probably damaging 1.00
R5386:Cc2d2a UTSW 5 43,730,041 (GRCm38) missense probably benign 0.01
R5538:Cc2d2a UTSW 5 43,695,176 (GRCm38) missense possibly damaging 0.94
R5568:Cc2d2a UTSW 5 43,709,091 (GRCm38) missense probably damaging 0.99
R5618:Cc2d2a UTSW 5 43,729,907 (GRCm38) missense probably benign 0.00
R5653:Cc2d2a UTSW 5 43,722,462 (GRCm38) missense possibly damaging 0.81
R5817:Cc2d2a UTSW 5 43,712,418 (GRCm38) missense probably damaging 1.00
R5858:Cc2d2a UTSW 5 43,715,775 (GRCm38) missense probably damaging 1.00
R5905:Cc2d2a UTSW 5 43,712,426 (GRCm38) missense probably benign
R5912:Cc2d2a UTSW 5 43,720,430 (GRCm38) missense probably damaging 0.97
R6073:Cc2d2a UTSW 5 43,729,975 (GRCm38) missense probably damaging 1.00
R6084:Cc2d2a UTSW 5 43,668,673 (GRCm38) missense probably benign
R6142:Cc2d2a UTSW 5 43,703,198 (GRCm38) missense probably damaging 0.97
R6176:Cc2d2a UTSW 5 43,709,113 (GRCm38) missense probably benign 0.32
R6238:Cc2d2a UTSW 5 43,671,235 (GRCm38) missense probably benign 0.11
R6381:Cc2d2a UTSW 5 43,715,776 (GRCm38) missense possibly damaging 0.69
R6404:Cc2d2a UTSW 5 43,704,074 (GRCm38) missense possibly damaging 0.58
R6455:Cc2d2a UTSW 5 43,739,412 (GRCm38) missense possibly damaging 0.69
R6695:Cc2d2a UTSW 5 43,718,677 (GRCm38) missense probably damaging 0.99
R6805:Cc2d2a UTSW 5 43,681,331 (GRCm38) missense probably damaging 1.00
R6919:Cc2d2a UTSW 5 43,703,215 (GRCm38) missense probably benign 0.19
R6970:Cc2d2a UTSW 5 43,718,585 (GRCm38) missense probably damaging 1.00
R7024:Cc2d2a UTSW 5 43,733,929 (GRCm38) missense probably benign 0.10
R7054:Cc2d2a UTSW 5 43,699,979 (GRCm38) nonsense probably null
R7071:Cc2d2a UTSW 5 43,709,113 (GRCm38) missense probably benign 0.13
R7098:Cc2d2a UTSW 5 43,683,139 (GRCm38) missense probably benign 0.00
R7366:Cc2d2a UTSW 5 43,729,990 (GRCm38) missense probably damaging 1.00
R7908:Cc2d2a UTSW 5 43,706,846 (GRCm38) missense probably benign 0.00
R7920:Cc2d2a UTSW 5 43,739,309 (GRCm38) missense probably benign 0.09
R7950:Cc2d2a UTSW 5 43,695,296 (GRCm38) critical splice donor site probably null
R8007:Cc2d2a UTSW 5 43,706,100 (GRCm38) missense possibly damaging 0.71
R8117:Cc2d2a UTSW 5 43,712,439 (GRCm38) missense probably damaging 1.00
R8123:Cc2d2a UTSW 5 43,710,554 (GRCm38) missense probably benign
R8179:Cc2d2a UTSW 5 43,699,953 (GRCm38) missense probably damaging 0.96
R8279:Cc2d2a UTSW 5 43,736,145 (GRCm38) missense probably benign 0.01
R8293:Cc2d2a UTSW 5 43,688,228 (GRCm38) missense probably damaging 0.97
R8480:Cc2d2a UTSW 5 43,685,144 (GRCm38) splice site probably null
R8482:Cc2d2a UTSW 5 43,695,239 (GRCm38) missense probably damaging 1.00
R8731:Cc2d2a UTSW 5 43,735,446 (GRCm38) missense probably damaging 1.00
R8780:Cc2d2a UTSW 5 43,739,350 (GRCm38) missense probably damaging 1.00
R8784:Cc2d2a UTSW 5 43,703,303 (GRCm38) missense possibly damaging 0.90
R8871:Cc2d2a UTSW 5 43,699,943 (GRCm38) missense possibly damaging 0.71
R8972:Cc2d2a UTSW 5 43,710,542 (GRCm38) missense probably benign
R9122:Cc2d2a UTSW 5 43,673,739 (GRCm38) missense probably null 0.07
R9125:Cc2d2a UTSW 5 43,703,221 (GRCm38) missense probably benign
R9203:Cc2d2a UTSW 5 43,733,837 (GRCm38) missense probably benign 0.01
R9310:Cc2d2a UTSW 5 43,695,146 (GRCm38) missense probably damaging 1.00
R9343:Cc2d2a UTSW 5 43,718,657 (GRCm38) missense probably damaging 1.00
R9353:Cc2d2a UTSW 5 43,703,349 (GRCm38) critical splice donor site probably null
Z1177:Cc2d2a UTSW 5 43,703,204 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTCCTGAACAGACTTCCTGTTTCATTC -3'
(R):5'- AGGGCATTTTGGGCACTAAACTAGTAAA -3'

Sequencing Primer
(F):5'- TGCCTGAGATAGAAAATGTTCAC -3'
(R):5'- tctttttctcttttctcttctcttcc -3'
Posted On 2014-04-24