Incidental Mutation 'R8753:C2cd3'
ID 663975
Institutional Source Beutler Lab
Gene Symbol C2cd3
Ensembl Gene ENSMUSG00000047248
Gene Name C2 calcium-dependent domain containing 3
Synonyms
MMRRC Submission 068619-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8753 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 100021440-100119359 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 100049024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000051777] [ENSMUST00000098259] [ENSMUST00000133464]
AlphaFold Q52KB6
Predicted Effect probably benign
Transcript: ENSMUST00000051777
SMART Domains Protein: ENSMUSP00000062637
Gene: ENSMUSG00000047248

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
low complexity region 406 417 N/A INTRINSIC
C2 524 662 2.36e1 SMART
C2 790 899 3.73e0 SMART
C2 989 1129 1.47e1 SMART
C2 1182 1321 1.63e1 SMART
C2 1617 1724 1.43e-2 SMART
low complexity region 1892 1906 N/A INTRINSIC
low complexity region 2037 2049 N/A INTRINSIC
low complexity region 2110 2125 N/A INTRINSIC
low complexity region 2180 2197 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098259
SMART Domains Protein: ENSMUSP00000095859
Gene: ENSMUSG00000047248

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
low complexity region 406 417 N/A INTRINSIC
C2 524 662 2.36e1 SMART
C2 790 899 3.73e0 SMART
C2 989 1129 1.47e1 SMART
C2 1182 1321 1.63e1 SMART
C2 1617 1724 1.43e-2 SMART
low complexity region 1892 1906 N/A INTRINSIC
low complexity region 2037 2049 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000119647
SMART Domains Protein: ENSMUSP00000113360
Gene: ENSMUSG00000047248

DomainStartEndE-ValueType
C2 61 199 2.36e1 SMART
C2 327 436 3.73e0 SMART
C2 526 666 1.47e1 SMART
C2 719 858 1.63e1 SMART
C2 1154 1261 1.43e-2 SMART
low complexity region 1429 1443 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133464
SMART Domains Protein: ENSMUSP00000118864
Gene: ENSMUSG00000047248

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 95% (59/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygotes inactivating allele are embryonic lethal with pericardial edema and twisted body axis, abnormal patterning of brain and open neural tube defect. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,332,706 (GRCm39) Y1496H probably damaging Het
Acan G A 7: 78,748,516 (GRCm39) E1096K possibly damaging Het
Adprhl1 T C 8: 13,272,118 (GRCm39) K1547E possibly damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Arf4 T A 14: 26,374,114 (GRCm39) probably benign Het
Boc A T 16: 44,320,775 (GRCm39) M295K Het
Calcrl C G 2: 84,178,659 (GRCm39) G223A probably benign Het
Calcrl C A 2: 84,178,661 (GRCm39) M222I probably benign Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Ccz1 A G 5: 143,925,050 (GRCm39) C469R probably benign Het
Cdc40 C T 10: 40,717,480 (GRCm39) D404N probably damaging Het
Clpx G A 9: 65,223,958 (GRCm39) G251S probably damaging Het
Col6a3 C G 1: 90,695,328 (GRCm39) probably benign Het
Cpox T A 16: 58,498,391 (GRCm39) M408K probably damaging Het
Crybb3 A G 5: 113,226,247 (GRCm39) probably null Het
Cubn A T 2: 13,313,377 (GRCm39) C3064* probably null Het
Cxcl3 CCTGCTGCTGCTGCTG CCTGCTGCTGCTG 5: 90,934,071 (GRCm39) probably benign Het
Cyp4a31 A T 4: 115,432,158 (GRCm39) S432C probably benign Het
Ddias A T 7: 92,508,668 (GRCm39) F416I probably damaging Het
Dlat G T 9: 50,560,967 (GRCm39) A360E probably damaging Het
Dnttip2 A G 3: 122,074,398 (GRCm39) T612A probably damaging Het
Fnip1 A G 11: 54,400,867 (GRCm39) T1089A probably damaging Het
Gm12117 A T 11: 33,225,953 (GRCm39) L128M probably benign Het
Gtf2h5 C CA 17: 6,134,833 (GRCm39) probably null Het
Ibtk T C 9: 85,610,819 (GRCm39) T285A probably benign Het
Ifi206 A T 1: 173,301,223 (GRCm39) N818K unknown Het
Itga10 T G 3: 96,558,471 (GRCm39) L305R probably damaging Het
Khnyn T C 14: 56,125,223 (GRCm39) Y461H possibly damaging Het
Macroh2a2 T C 10: 61,585,113 (GRCm39) D177G possibly damaging Het
Mbtps1 T C 8: 120,235,601 (GRCm39) S1026G possibly damaging Het
Msantd4 A G 9: 4,385,013 (GRCm39) E246G probably damaging Het
N4bp1 T C 8: 87,575,085 (GRCm39) I737V probably damaging Het
Nav2 T G 7: 49,102,320 (GRCm39) S373A probably benign Het
Nbea T C 3: 55,534,329 (GRCm39) Y2936C probably damaging Het
Nbeal1 A T 1: 60,307,542 (GRCm39) I1685F probably damaging Het
Nt5c3 C G 6: 56,860,677 (GRCm39) G293R probably damaging Het
Or4f14c A T 2: 111,940,802 (GRCm39) V265E probably benign Het
Or52z1 T A 7: 103,436,567 (GRCm39) I306F probably benign Het
Pcnx2 A T 8: 126,613,999 (GRCm39) V484E probably benign Het
Pcsk5 C T 19: 17,446,408 (GRCm39) R1195Q probably benign Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pitpnm3 A G 11: 71,942,704 (GRCm39) V861A probably benign Het
Pkd1 A G 17: 24,793,176 (GRCm39) Y1621C probably damaging Het
Polr3a C A 14: 24,513,702 (GRCm39) E846* probably null Het
Polr3e T C 7: 120,539,540 (GRCm39) V455A possibly damaging Het
Prr5l C T 2: 101,571,723 (GRCm39) G118D probably damaging Het
Pygl G T 12: 70,242,400 (GRCm39) N685K probably damaging Het
Rfx8 A G 1: 39,757,600 (GRCm39) V56A probably damaging Het
Sbf1 T C 15: 89,179,662 (GRCm39) D1341G probably benign Het
Selenon T C 4: 134,275,330 (GRCm39) T123A probably benign Het
Slc23a1 T G 18: 35,752,631 (GRCm39) K549Q probably benign Het
Slc7a13 T C 4: 19,841,443 (GRCm39) F430S probably damaging Het
Smarcc2 G A 10: 128,319,070 (GRCm39) V707M probably damaging Het
St18 A G 1: 6,916,015 (GRCm39) S887G probably damaging Het
T2 T C 17: 8,615,477 (GRCm39) probably benign Het
Tbc1d16 A G 11: 119,101,492 (GRCm39) L6P probably damaging Het
Tcf7l2 T C 19: 55,920,195 (GRCm39) L576P possibly damaging Het
Tnr A G 1: 159,677,936 (GRCm39) D107G probably benign Het
Trpv1 G T 11: 73,135,082 (GRCm39) K426N probably damaging Het
Vmn1r15 A T 6: 57,235,895 (GRCm39) L254F probably benign Het
Vmn1r219 A T 13: 23,347,191 (GRCm39) I127F probably damaging Het
Zc3h14 A T 12: 98,724,831 (GRCm39) E164D probably benign Het
Other mutations in C2cd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:C2cd3 APN 7 100,040,335 (GRCm39) missense probably benign 0.14
IGL01420:C2cd3 APN 7 100,104,065 (GRCm39) missense probably benign 0.35
IGL01775:C2cd3 APN 7 100,092,638 (GRCm39) missense probably damaging 1.00
IGL01832:C2cd3 APN 7 100,076,421 (GRCm39) missense possibly damaging 0.94
IGL01883:C2cd3 APN 7 100,023,693 (GRCm39) missense possibly damaging 0.80
IGL02664:C2cd3 APN 7 100,068,922 (GRCm39) missense possibly damaging 0.67
IGL02697:C2cd3 APN 7 100,076,376 (GRCm39) unclassified probably benign
IGL02852:C2cd3 APN 7 100,079,396 (GRCm39) missense probably damaging 1.00
IGL03158:C2cd3 APN 7 100,023,683 (GRCm39) missense probably damaging 1.00
R0012:C2cd3 UTSW 7 100,067,729 (GRCm39) missense possibly damaging 0.52
R0012:C2cd3 UTSW 7 100,067,729 (GRCm39) missense possibly damaging 0.52
R0013:C2cd3 UTSW 7 100,065,269 (GRCm39) missense probably damaging 1.00
R0013:C2cd3 UTSW 7 100,065,269 (GRCm39) missense probably damaging 1.00
R0032:C2cd3 UTSW 7 100,093,652 (GRCm39) unclassified probably benign
R0032:C2cd3 UTSW 7 100,093,652 (GRCm39) unclassified probably benign
R0124:C2cd3 UTSW 7 100,118,725 (GRCm39) missense probably benign
R0387:C2cd3 UTSW 7 100,071,714 (GRCm39) splice site probably benign
R0522:C2cd3 UTSW 7 100,044,429 (GRCm39) missense probably benign 0.14
R1124:C2cd3 UTSW 7 100,071,888 (GRCm39) missense probably benign 0.00
R1484:C2cd3 UTSW 7 100,089,397 (GRCm39) missense probably damaging 1.00
R1533:C2cd3 UTSW 7 100,055,284 (GRCm39) missense possibly damaging 0.54
R1631:C2cd3 UTSW 7 100,021,704 (GRCm39) critical splice donor site probably null
R1875:C2cd3 UTSW 7 100,056,232 (GRCm39) missense possibly damaging 0.89
R2059:C2cd3 UTSW 7 100,104,700 (GRCm39) unclassified probably benign
R2060:C2cd3 UTSW 7 100,104,155 (GRCm39) missense probably damaging 1.00
R2348:C2cd3 UTSW 7 100,062,573 (GRCm39) missense probably damaging 1.00
R3103:C2cd3 UTSW 7 100,044,459 (GRCm39) missense possibly damaging 0.47
R3405:C2cd3 UTSW 7 100,039,373 (GRCm39) missense probably benign 0.01
R3687:C2cd3 UTSW 7 100,085,040 (GRCm39) missense probably benign 0.28
R3775:C2cd3 UTSW 7 100,081,205 (GRCm39) missense probably damaging 1.00
R3854:C2cd3 UTSW 7 100,103,808 (GRCm39) critical splice acceptor site probably null
R4359:C2cd3 UTSW 7 100,090,296 (GRCm39) missense probably damaging 1.00
R4403:C2cd3 UTSW 7 100,081,306 (GRCm39) missense probably damaging 1.00
R4446:C2cd3 UTSW 7 100,023,684 (GRCm39) missense probably damaging 1.00
R4646:C2cd3 UTSW 7 100,021,657 (GRCm39) unclassified probably benign
R4705:C2cd3 UTSW 7 100,044,395 (GRCm39) missense possibly damaging 0.77
R4770:C2cd3 UTSW 7 100,092,642 (GRCm39) missense probably damaging 1.00
R4777:C2cd3 UTSW 7 100,065,539 (GRCm39) missense possibly damaging 0.46
R4816:C2cd3 UTSW 7 100,040,226 (GRCm39) missense probably benign 0.01
R4842:C2cd3 UTSW 7 100,065,397 (GRCm39) missense probably benign 0.00
R4858:C2cd3 UTSW 7 100,104,160 (GRCm39) missense probably damaging 1.00
R4871:C2cd3 UTSW 7 100,062,581 (GRCm39) missense possibly damaging 0.79
R4898:C2cd3 UTSW 7 100,055,166 (GRCm39) missense probably damaging 1.00
R5026:C2cd3 UTSW 7 100,109,049 (GRCm39) missense possibly damaging 0.52
R5112:C2cd3 UTSW 7 100,092,692 (GRCm39) missense possibly damaging 0.91
R5242:C2cd3 UTSW 7 100,039,373 (GRCm39) missense probably benign 0.01
R5538:C2cd3 UTSW 7 100,104,700 (GRCm39) critical splice donor site probably null
R5861:C2cd3 UTSW 7 100,093,682 (GRCm39) unclassified probably benign
R6110:C2cd3 UTSW 7 100,090,283 (GRCm39) missense probably damaging 1.00
R6326:C2cd3 UTSW 7 100,065,635 (GRCm39) missense probably benign 0.02
R6429:C2cd3 UTSW 7 100,081,298 (GRCm39) missense probably damaging 1.00
R6610:C2cd3 UTSW 7 100,104,505 (GRCm39) missense probably benign
R6613:C2cd3 UTSW 7 100,044,448 (GRCm39) missense possibly damaging 0.87
R6631:C2cd3 UTSW 7 100,067,747 (GRCm39) missense probably damaging 1.00
R6787:C2cd3 UTSW 7 100,104,553 (GRCm39) missense probably benign
R6837:C2cd3 UTSW 7 100,097,953 (GRCm39) missense probably damaging 1.00
R6849:C2cd3 UTSW 7 100,056,134 (GRCm39) missense probably damaging 1.00
R6860:C2cd3 UTSW 7 100,039,448 (GRCm39) missense probably benign 0.28
R6929:C2cd3 UTSW 7 100,100,826 (GRCm39) missense probably damaging 1.00
R7026:C2cd3 UTSW 7 100,081,299 (GRCm39) missense probably damaging 1.00
R7088:C2cd3 UTSW 7 100,065,388 (GRCm39) missense
R7174:C2cd3 UTSW 7 100,081,405 (GRCm39) missense
R7241:C2cd3 UTSW 7 100,056,257 (GRCm39) missense
R7335:C2cd3 UTSW 7 100,071,810 (GRCm39) missense
R7357:C2cd3 UTSW 7 100,079,310 (GRCm39) missense
R7493:C2cd3 UTSW 7 100,076,433 (GRCm39) missense
R7567:C2cd3 UTSW 7 100,080,022 (GRCm39) missense
R7573:C2cd3 UTSW 7 100,068,914 (GRCm39) missense
R7869:C2cd3 UTSW 7 100,118,698 (GRCm39) missense probably damaging 0.99
R7999:C2cd3 UTSW 7 100,109,096 (GRCm39) critical splice donor site probably null
R8134:C2cd3 UTSW 7 100,067,711 (GRCm39) missense
R8369:C2cd3 UTSW 7 100,044,465 (GRCm39) missense probably benign 0.03
R8372:C2cd3 UTSW 7 100,104,487 (GRCm39) nonsense probably null
R8893:C2cd3 UTSW 7 100,104,004 (GRCm39) missense probably benign
R8905:C2cd3 UTSW 7 100,074,132 (GRCm39) critical splice donor site probably null
R8945:C2cd3 UTSW 7 100,040,286 (GRCm39) missense possibly damaging 0.88
R8970:C2cd3 UTSW 7 100,068,971 (GRCm39) missense
R9000:C2cd3 UTSW 7 100,065,281 (GRCm39) missense
R9064:C2cd3 UTSW 7 100,059,608 (GRCm39) missense
R9072:C2cd3 UTSW 7 100,040,291 (GRCm39) missense probably benign 0.07
R9126:C2cd3 UTSW 7 100,081,430 (GRCm39) missense
R9160:C2cd3 UTSW 7 100,075,236 (GRCm39) missense
R9234:C2cd3 UTSW 7 100,049,012 (GRCm39) missense
R9258:C2cd3 UTSW 7 100,098,026 (GRCm39) missense
R9295:C2cd3 UTSW 7 100,081,734 (GRCm39) missense
R9411:C2cd3 UTSW 7 100,065,704 (GRCm39) missense
R9420:C2cd3 UTSW 7 100,065,262 (GRCm39) missense
R9589:C2cd3 UTSW 7 100,081,756 (GRCm39) missense
R9628:C2cd3 UTSW 7 100,097,961 (GRCm39) missense
R9629:C2cd3 UTSW 7 100,029,249 (GRCm39) missense probably damaging 1.00
R9681:C2cd3 UTSW 7 100,023,662 (GRCm39) missense probably benign 0.32
R9775:C2cd3 UTSW 7 100,076,458 (GRCm39) missense
X0002:C2cd3 UTSW 7 100,089,442 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- GAGCTCTGCTGAACCTTCTG -3'
(R):5'- GCTAGCTGTTTCTTAGAAGTGCTC -3'

Sequencing Primer
(F):5'- GAGCTCTGCTGAACCTTCTGTTAAG -3'
(R):5'- TCTTAGAAGTGCTCTGAGGAAGCC -3'
Posted On 2021-03-08