Incidental Mutation 'R6919:Cc2d2a'
ID 539488
Institutional Source Beutler Lab
Gene Symbol Cc2d2a
Ensembl Gene ENSMUSG00000039765
Gene Name coiled-coil and C2 domain containing 2A
Synonyms b2b1035Clo, 5730509K17Rik
MMRRC Submission 045039-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.874) question?
Stock # R6919 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 43662346-43740972 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43703215 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 544 (D544E)
Ref Sequence ENSEMBL: ENSMUSP00000048320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048150] [ENSMUST00000125866]
AlphaFold Q8CFW7
Predicted Effect probably benign
Transcript: ENSMUST00000048150
AA Change: D544E

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: D544E

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 benign
Transcript: ENSMUST00000125866
AA Change: D495E

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: D495E

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
Meta Mutation Damage Score 0.0708 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 99% (84/85)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700086D15Rik A G 11: 65,152,530 (GRCm38) probably benign Het
6430548M08Rik T C 8: 120,145,482 (GRCm38) S50P probably damaging Het
Aacs A G 5: 125,506,163 (GRCm38) D261G probably benign Het
Abcc4 T A 14: 118,594,894 (GRCm38) T775S probably benign Het
Acsl6 A G 11: 54,341,756 (GRCm38) probably null Het
Agbl5 T A 5: 30,904,717 (GRCm38) F196I probably benign Het
Ahnak2 T C 12: 112,774,684 (GRCm38) T985A possibly damaging Het
Ak1 A T 2: 32,631,122 (GRCm38) D101V possibly damaging Het
Alx1 A G 10: 103,025,200 (GRCm38) Y156H probably damaging Het
Angptl7 T A 4: 148,500,031 (GRCm38) S87C probably benign Het
Ankrd36 A G 11: 5,629,299 (GRCm38) T188A probably benign Het
Arhgap11a A C 2: 113,839,709 (GRCm38) S356R possibly damaging Het
Ascc3 G T 10: 50,645,753 (GRCm38) E455* probably null Het
Atp6v0a2 G A 5: 124,712,161 (GRCm38) probably null Het
B3gnt7 T C 1: 86,305,694 (GRCm38) W104R probably damaging Het
Bbs9 G A 9: 22,812,544 (GRCm38) probably null Het
Cic C T 7: 25,271,777 (GRCm38) T311I probably benign Het
Cngb1 T A 8: 95,248,375 (GRCm38) R1157W probably null Het
Cntln A G 4: 85,115,368 (GRCm38) H1310R probably benign Het
Cntnap5c A T 17: 58,293,953 (GRCm38) I764F probably benign Het
Col26a1 T C 5: 136,744,234 (GRCm38) Q362R possibly damaging Het
Cyp2c29 G A 19: 39,291,141 (GRCm38) R100K probably benign Het
D17H6S53E C G 17: 35,127,246 (GRCm38) D44E probably damaging Het
Dap3 A G 3: 88,930,989 (GRCm38) V65A probably damaging Het
Dna2 A T 10: 62,957,003 (GRCm38) I266F probably damaging Het
Dnah14 G A 1: 181,585,066 (GRCm38) G57E probably benign Het
Dock9 A T 14: 121,643,152 (GRCm38) V333E probably benign Het
Dpm1 A G 2: 168,230,275 (GRCm38) Y27H probably damaging Het
Dsp A T 13: 38,167,655 (GRCm38) Y150F possibly damaging Het
Emilin3 A T 2: 160,908,098 (GRCm38) I577N probably damaging Het
Erap1 A G 13: 74,671,433 (GRCm38) T189A probably benign Het
Fat2 A G 11: 55,282,771 (GRCm38) I2372T possibly damaging Het
Fbn2 A T 18: 58,124,187 (GRCm38) probably null Het
Gnl1 A T 17: 35,987,533 (GRCm38) R390* probably null Het
Hivep1 A G 13: 42,183,452 (GRCm38) I2336V probably benign Het
Il17rb C G 14: 30,004,271 (GRCm38) probably null Het
Itga9 T C 9: 118,887,815 (GRCm38) W396R probably damaging Het
Katnal2 A G 18: 77,011,038 (GRCm38) V152A probably benign Het
Kcnk3 A G 5: 30,622,400 (GRCm38) T265A probably benign Het
Klhl1 T C 14: 96,136,594 (GRCm38) Y672C probably benign Het
Leng8 C A 7: 4,143,626 (GRCm38) N412K possibly damaging Het
Lrrc9 T A 12: 72,506,393 (GRCm38) F1356L probably benign Het
Map7 A G 10: 20,171,082 (GRCm38) probably benign Het
Mei1 T C 15: 82,081,930 (GRCm38) F251S probably damaging Het
Mia2 A G 12: 59,129,895 (GRCm38) E9G possibly damaging Het
Ms4a13 C A 19: 11,171,885 (GRCm38) W182C probably benign Het
Muc16 C T 9: 18,660,299 (GRCm38) R308K unknown Het
Or4c103 G A 2: 88,683,684 (GRCm38) T16I possibly damaging Het
Or8g22 A G 9: 39,047,531 (GRCm38) probably benign Het
Pcnt A G 10: 76,385,798 (GRCm38) V1998A probably benign Het
Pgm1 A T 5: 64,097,025 (GRCm38) N51I probably benign Het
Piezo1 T A 8: 122,490,281 (GRCm38) H1333L probably damaging Het
Prg2 G A 2: 84,983,256 (GRCm38) V199M probably damaging Het
Prss51 T C 14: 64,097,488 (GRCm38) V182A probably damaging Het
Psmb9 A T 17: 34,183,225 (GRCm38) Y132* probably null Het
Ralyl T C 3: 13,777,031 (GRCm38) Y76H probably damaging Het
Rnaset2a A T 17: 8,130,282 (GRCm38) D174E probably benign Het
Rnft1 G A 11: 86,495,330 (GRCm38) probably null Het
Robo2 T C 16: 73,961,867 (GRCm38) Y676C probably damaging Het
Samd9l T G 6: 3,376,313 (GRCm38) Y316S possibly damaging Het
Siah3 T A 14: 75,456,138 (GRCm38) F28Y possibly damaging Het
Slc28a3 C T 13: 58,573,443 (GRCm38) probably null Het
Slc8a1 A G 17: 81,388,872 (GRCm38) F911S probably damaging Het
Spata31e2 T C 1: 26,682,934 (GRCm38) Y1055C probably benign Het
Speg T A 1: 75,387,908 (GRCm38) L156* probably null Het
Spopl T G 2: 23,517,861 (GRCm38) M269L probably benign Het
Tacr1 C T 6: 82,557,073 (GRCm38) T360I probably benign Het
Tasor T A 14: 27,449,801 (GRCm38) L397* probably null Het
Tmem262 A G 19: 6,080,737 (GRCm38) E95G probably benign Het
Tmem68 G T 4: 3,569,669 (GRCm38) T7N possibly damaging Het
Top3a T A 11: 60,749,493 (GRCm38) I460F probably damaging Het
Trafd1 G A 5: 121,384,074 (GRCm38) R5* probably null Het
Trim16 T A 11: 62,840,869 (GRCm38) V435D possibly damaging Het
Tspan17 A G 13: 54,796,033 (GRCm38) D236G probably damaging Het
Tssk2 A T 16: 17,899,701 (GRCm38) M323L probably benign Het
Ubqln5 A G 7: 104,129,008 (GRCm38) V203A probably benign Het
Utrn A T 10: 12,693,470 (GRCm38) L1134* probably null Het
Vmn1r37 C T 6: 66,731,720 (GRCm38) S73F possibly damaging Het
Vps13c A G 9: 67,927,452 (GRCm38) K1688E probably damaging Het
Zbtb39 A G 10: 127,741,842 (GRCm38) D95G probably damaging Het
Zfhx3 T A 8: 108,800,528 (GRCm38) I1019N probably damaging Het
Zfp207 C T 11: 80,395,503 (GRCm38) probably benign Het
Zmiz1 C T 14: 25,643,638 (GRCm38) T169M 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
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'- CACAGGCTAGTTTCTTAACTGTCTG -3'
(R):5'- TCAGGGGTTTGCCTTCCAAG -3'

Sequencing Primer
(F):5'- AACTGTCTGTGTTAATGTCTCTTCAG -3'
(R):5'- TTCCAAGGCCCTCCCTAG -3'
Posted On 2018-11-06