Incidental Mutation 'R8482:Cc2d2a'
ID 657562
Institutional Source Beutler Lab
Gene Symbol Cc2d2a
Ensembl Gene ENSMUSG00000039765
Gene Name coiled-coil and C2 domain containing 2A
Synonyms b2b1035Clo, 5730509K17Rik
MMRRC Submission 067926-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.874) question?
Stock # R8482 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 43662346-43740972 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43695239 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 386 (Y386F)
Ref Sequence ENSEMBL: ENSMUSP00000114349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048150] [ENSMUST00000125866]
AlphaFold Q8CFW7
Predicted Effect possibly damaging
Transcript: ENSMUST00000048150
AA Change: Y435F

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: Y435F

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: Y386F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: Y386F

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (49/49)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410141K09Rik C T 13: 66,431,738 (GRCm38) probably benign Het
Acan G A 7: 79,096,744 (GRCm38) V711I probably benign Het
Adprh A T 16: 38,447,509 (GRCm38) M138K probably damaging Het
Ahctf1 A G 1: 179,763,542 (GRCm38) probably benign Het
Atg9a G A 1: 75,186,226 (GRCm38) T410M probably damaging Het
Atxn1 A T 13: 45,567,950 (GRCm38) S156R possibly damaging Het
Bptf T C 11: 107,043,698 (GRCm38) T2850A probably benign Het
Ccdc97 T C 7: 25,715,002 (GRCm38) D109G probably damaging Het
Chd5 C T 4: 152,356,690 (GRCm38) R196* probably null Het
Clec4a2 T C 6: 123,123,671 (GRCm38) probably null Het
Col13a1 A G 10: 61,884,698 (GRCm38) I317T probably damaging Het
D630003M21Rik G T 2: 158,216,932 (GRCm38) S349R probably benign Het
Eml5 C A 12: 98,876,301 (GRCm38) L179F probably damaging Het
Ets2 A T 16: 95,714,975 (GRCm38) M200L probably benign Het
Fam189a2 T A 19: 23,988,502 (GRCm38) N211I probably damaging Het
Fam213a C T 14: 40,997,766 (GRCm38) E164K probably benign Het
Fat3 T C 9: 16,246,967 (GRCm38) T1116A probably benign Het
Fhit A G 14: 10,751,616 (GRCm38) V24A probably benign Het
Gm6685 T C 11: 28,339,195 (GRCm38) N207S probably benign Het
Hdc G A 2: 126,594,205 (GRCm38) T582M probably benign Het
Hmgxb4 G A 8: 75,029,594 (GRCm38) C575Y probably damaging Het
Kidins220 T A 12: 25,040,528 (GRCm38) S1164T probably benign Het
Ldb1 C A 19: 46,036,270 (GRCm38) D5Y probably null Het
Lpcat1 G A 13: 73,510,925 (GRCm38) R320H probably benign Het
Lrfn4 T C 19: 4,614,305 (GRCm38) D67G probably damaging Het
Myo15b C T 11: 115,883,257 (GRCm38) Q550* probably null Het
Myo18b C A 5: 112,871,623 (GRCm38) E43* probably null Het
Neurl1a T C 19: 47,253,280 (GRCm38) C271R probably damaging Het
Nfasc T C 1: 132,605,089 (GRCm38) S690G probably damaging Het
Ngly1 T C 14: 16,310,377 (GRCm38) S501P probably benign Het
Nlrp1a A T 11: 71,109,075 (GRCm38) probably null Het
Npw A G 17: 24,657,422 (GRCm38) W172R probably benign Het
Nudt8 T C 19: 4,000,849 (GRCm38) probably null Het
Nyap2 A T 1: 81,241,637 (GRCm38) Y458F probably damaging Het
Olfr1118 G A 2: 87,309,382 (GRCm38) V198I probably benign Het
Osbpl5 T A 7: 143,704,994 (GRCm38) T280S probably benign Het
Pex1 A T 5: 3,612,923 (GRCm38) I505F probably benign Het
Pfkm A G 15: 98,131,983 (GRCm38) E756G probably benign Het
Pkd2l2 A G 18: 34,425,113 (GRCm38) I282V possibly damaging Het
Pnpla8 T C 12: 44,283,627 (GRCm38) S321P probably benign Het
Qdpr G T 5: 45,439,346 (GRCm38) Q159K probably benign Het
Rac2 T C 15: 78,566,006 (GRCm38) M45V probably benign Het
Rnaset2b G A 17: 6,996,509 (GRCm38) probably null Het
Rpl38 T A 11: 114,672,288 (GRCm38) *71R probably null Het
Sacs G T 14: 61,202,955 (GRCm38) V817L probably benign Het
Selenot T C 3: 58,588,468 (GRCm38) F133S probably damaging Het
Sgcg G A 14: 61,240,407 (GRCm38) L78F probably damaging Het
Slc19a1 A G 10: 77,049,663 (GRCm38) R466G probably benign Het
Tpr A G 1: 150,433,700 (GRCm38) T1736A probably damaging Het
Zfhx3 A G 8: 108,947,879 (GRCm38) I1854V probably benign Het
Zfp652 T C 11: 95,752,893 (GRCm38) S306P 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
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
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
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'- TCTGACAGCCTTTCCTTTGAGG -3'
(R):5'- TCTAGGTAGGACACTATCACACACC -3'

Sequencing Primer
(F):5'- TCCTTTGAGGACAAGACTCAC -3'
(R):5'- TATCACACACCCTGGGCAGAG -3'
Posted On 2021-01-18