Incidental Mutation 'IGL02364:Cc2d2a'
ID 290651
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cc2d2a
Ensembl Gene ENSMUSG00000039765
Gene Name coiled-coil and C2 domain containing 2A
Synonyms b2b1035Clo, 5730509K17Rik
Accession Numbers

Genbank: NM_172274; MGI: 1924487

Essential gene? Probably essential (E-score: 0.874) question?
Stock # IGL02364
Quality Score
Status
Chromosome 5
Chromosomal Location 43662346-43740972 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43735450 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 1390 (N1390K)
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: N1451K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: N1451K

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: N1390K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: N1390K

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
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933425L06Rik T A 13: 105,082,300 (GRCm38) D47E probably damaging Het
Bdp1 A T 13: 100,055,308 (GRCm38) probably benign Het
Car8 T C 4: 8,183,321 (GRCm38) I225V probably benign Het
Coasy T C 11: 101,084,358 (GRCm38) V247A possibly damaging Het
Dgkq A G 5: 108,656,444 (GRCm38) V50A probably benign Het
Dixdc1 A T 9: 50,682,631 (GRCm38) probably benign Het
Dmxl2 G A 9: 54,393,843 (GRCm38) A2328V probably benign Het
Exoc3l C A 8: 105,290,577 (GRCm38) V593L possibly damaging Het
Eya3 T C 4: 132,710,055 (GRCm38) S409P probably damaging Het
Fam71a T C 1: 191,163,516 (GRCm38) N310S probably benign Het
Gbp4 A T 5: 105,136,874 (GRCm38) S50T probably damaging Het
Gm5885 A G 6: 133,530,129 (GRCm38) noncoding transcript Het
Hypm G T X: 9,847,390 (GRCm38) probably benign Het
Igkv12-89 A T 6: 68,834,986 (GRCm38) Y66* probably null Het
Itgax G A 7: 128,139,982 (GRCm38) V601M possibly damaging Het
Kank3 T C 17: 33,818,850 (GRCm38) V291A probably benign Het
Klhl9 A G 4: 88,721,170 (GRCm38) M278T probably damaging Het
Lrrc43 G A 5: 123,501,212 (GRCm38) D435N possibly damaging Het
Ly75 A T 2: 60,358,507 (GRCm38) S292T probably damaging Het
Mchr1 G A 15: 81,237,279 (GRCm38) V77I probably benign Het
Mga T A 2: 119,964,054 (GRCm38) C2622S possibly damaging Het
Neb G T 2: 52,296,254 (GRCm38) Y935* probably null Het
Phf20 A G 2: 156,294,097 (GRCm38) E612G possibly damaging Het
Pkhd1 A G 1: 20,200,783 (GRCm38) L3182P probably benign Het
Rnf130 T C 11: 50,095,840 (GRCm38) V337A probably benign Het
Slfn10-ps T C 11: 83,032,291 (GRCm38) noncoding transcript Het
Sorcs1 G A 19: 50,333,598 (GRCm38) P249L probably damaging Het
Spata13 C T 14: 60,691,274 (GRCm38) R94C probably damaging Het
Stk38 C T 17: 28,991,416 (GRCm38) R63Q probably benign Het
Tmem220 C A 11: 67,034,188 (GRCm38) H174N probably benign Het
Tmem68 C A 4: 3,560,536 (GRCm38) R216L probably damaging Het
Trim29 G A 9: 43,311,302 (GRCm38) V143M probably benign Het
Ubqln2 T C X: 153,499,910 (GRCm38) L486P possibly damaging Het
Usp17le G A 7: 104,768,775 (GRCm38) Q387* probably null Het
Vps33b A G 7: 80,287,839 (GRCm38) E445G probably 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
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
R1635:Cc2d2a UTSW 5 43,722,470 (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
Posted On 2015-04-16