Incidental Mutation 'R0317:Cc2d2a'
ID 25442
Institutional Source Beutler Lab
Gene Symbol Cc2d2a
Ensembl Gene ENSMUSG00000039765
Gene Name coiled-coil and C2 domain containing 2A
Synonyms b2b1035Clo, 5730509K17Rik
MMRRC Submission 038527-MU
Accession Numbers

Genbank: NM_172274; MGI: 1924487

Essential gene? Probably essential (E-score: 0.874) question?
Stock # R0317 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 43662346-43740972 bp(+) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 43706901 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048150] [ENSMUST00000125866]
AlphaFold Q8CFW7
Predicted Effect probably null
Transcript: ENSMUST00000048150
SMART Domains Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765

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 null
Transcript: ENSMUST00000125866
SMART Domains Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127355
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.8%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,293,459 (GRCm38) V1774A probably damaging Het
Adam34 G A 8: 43,652,251 (GRCm38) P119L probably benign Het
Ap3b2 T C 7: 81,463,681 (GRCm38) probably null Het
Arfip2 G A 7: 105,637,223 (GRCm38) T124M probably damaging Het
Arhgef26 T C 3: 62,423,544 (GRCm38) S560P probably damaging Het
Bcl11a A T 11: 24,172,697 (GRCm38) probably null Het
Cab39 A G 1: 85,849,160 (GRCm38) E322G probably damaging Het
Cad C A 5: 31,072,321 (GRCm38) P1382Q probably benign Het
Cela2a A T 4: 141,821,700 (GRCm38) probably null Het
Ces1e A C 8: 93,224,039 (GRCm38) I38S probably benign Het
Ces1f A T 8: 93,263,391 (GRCm38) F364I probably benign Het
Chgb A G 2: 132,793,811 (GRCm38) T558A probably benign Het
Cnpy4 C T 5: 138,192,812 (GRCm38) Q217* probably null Het
Col4a3bp C T 13: 96,634,121 (GRCm38) R487* probably null Het
Crlf1 A G 8: 70,498,599 (GRCm38) T43A probably benign Het
Dnah7b T A 1: 46,134,656 (GRCm38) M707K probably damaging Het
Ets2 G A 16: 95,712,149 (GRCm38) S123N probably damaging Het
Fam196b C A 11: 34,402,826 (GRCm38) D289E possibly damaging Het
Fry T C 5: 150,471,468 (GRCm38) F304S probably damaging Het
Gadd45gip1 G A 8: 84,834,116 (GRCm38) R120H probably benign Het
Gbf1 A G 19: 46,254,020 (GRCm38) T96A probably benign Het
Ggn T A 7: 29,171,090 (GRCm38) M1K probably null Het
Gm5239 A G 18: 35,536,916 (GRCm38) T112A probably benign Het
Kif1bp A T 10: 62,578,082 (GRCm38) probably null Het
Lrrc15 A T 16: 30,273,743 (GRCm38) H259Q probably benign Het
Lysmd4 A G 7: 67,226,297 (GRCm38) Y236C probably damaging Het
Med29 T C 7: 28,386,859 (GRCm38) T175A possibly damaging Het
Mfsd12 G T 10: 81,357,799 (GRCm38) D68Y probably damaging Het
Myh1 T C 11: 67,217,512 (GRCm38) L1308P probably damaging Het
Nphp4 T A 4: 152,551,931 (GRCm38) probably null Het
Olfr948 A G 9: 39,319,461 (GRCm38) I51T probably benign Het
Pdhx A G 2: 103,028,280 (GRCm38) V393A probably benign Het
Pgm5 A G 19: 24,824,399 (GRCm38) I155T possibly damaging Het
Pgr A T 9: 8,965,022 (GRCm38) I889F probably benign Het
Phactr4 T A 4: 132,386,930 (GRCm38) K51I probably damaging Het
Pum2 T A 12: 8,728,754 (GRCm38) I468K possibly damaging Het
Rab11a A G 9: 64,725,553 (GRCm38) S24P probably damaging Het
Rasef T C 4: 73,748,562 (GRCm38) Q160R probably damaging Het
Rbl2 A G 8: 91,087,144 (GRCm38) D339G probably benign Het
Recql5 A G 11: 115,894,673 (GRCm38) S666P probably benign Het
Rfc1 A T 5: 65,296,052 (GRCm38) probably null Het
Scarb1 A G 5: 125,289,692 (GRCm38) V59A probably damaging Het
Slc2a4 C T 11: 69,946,356 (GRCm38) V85M probably damaging Het
Slc6a12 A G 6: 121,358,625 (GRCm38) I291V possibly damaging Het
Slco3a1 A C 7: 74,504,426 (GRCm38) Y104D probably damaging Het
Suz12 T A 11: 79,999,078 (GRCm38) D13E probably damaging Het
Tlr1 G T 5: 64,925,967 (GRCm38) C422* probably null Het
Tmco1 T C 1: 167,325,893 (GRCm38) V114A probably damaging Het
Trpa1 T C 1: 14,881,632 (GRCm38) T948A probably benign Het
Tub A T 7: 109,020,927 (GRCm38) N93Y probably damaging Het
Ufsp2 G A 8: 45,992,233 (GRCm38) probably null Het
Veph1 T C 3: 66,171,975 (GRCm38) D373G probably benign Het
Vmn1r206 A G 13: 22,620,960 (GRCm38) S26P possibly damaging Het
Vmn2r1 T C 3: 64,081,819 (GRCm38) S60P possibly damaging Het
Wdcp A G 12: 4,851,583 (GRCm38) S480G probably benign Het
Wnk4 T C 11: 101,268,804 (GRCm38) S612P probably benign Het
Zfp503 T C 14: 21,986,459 (GRCm38) K130E probably benign Het
Zkscan16 G A 4: 58,957,602 (GRCm38) C628Y 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
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
Predicted Primers PCR Primer
(F):5'- TGGGGCAGACCAGCACAGAC -3'
(R):5'- ACGTGTTCTCATAGAGAAATGACTTGGC -3'

Sequencing Primer
(F):5'- TGAGAGCACATTCTATTGCCAC -3'
(R):5'- catcctcctgccttagcc -3'
Posted On 2013-04-16