Incidental Mutation 'R6860:C2cd3'
ID 535440
Institutional Source Beutler Lab
Gene Symbol C2cd3
Ensembl Gene ENSMUSG00000047248
Gene Name C2 calcium-dependent domain containing 3
Synonyms
MMRRC Submission 045025-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6860 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 100021440-100119359 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100039448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 216 (P216S)
Ref Sequence ENSEMBL: ENSMUSP00000062637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051777] [ENSMUST00000098259] [ENSMUST00000133464]
AlphaFold Q52KB6
Predicted Effect probably benign
Transcript: ENSMUST00000051777
AA Change: P216S

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000062637
Gene: ENSMUSG00000047248
AA Change: P216S

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
AA Change: P216S

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000095859
Gene: ENSMUSG00000047248
AA Change: P216S

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 benign
Transcript: ENSMUST00000133464
SMART Domains Protein: ENSMUSP00000118864
Gene: ENSMUSG00000047248

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (86/86)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,080,412 (GRCm39) E418G probably damaging Het
9930012K11Rik C A 14: 70,395,071 (GRCm39) V28L possibly damaging Het
Abtb2 C T 2: 103,539,770 (GRCm39) R712* probably null Het
Acvr1c C T 2: 58,177,717 (GRCm39) G171S probably damaging Het
Ahctf1 G T 1: 179,580,853 (GRCm39) A1783E probably benign Het
Anapc4 A T 5: 53,006,170 (GRCm39) Q149L probably damaging Het
Ankrd27 T C 7: 35,327,952 (GRCm39) V824A possibly damaging Het
Ankrd31 G C 13: 96,968,094 (GRCm39) C577S probably benign Het
Apol7c T C 15: 77,410,274 (GRCm39) N224S probably benign Het
Arl14 A T 3: 69,130,029 (GRCm39) T59S probably benign Het
Astn1 T A 1: 158,440,042 (GRCm39) I870K probably damaging Het
B4galt1 A T 4: 40,807,796 (GRCm39) V335E probably benign Het
Cchcr1 C A 17: 35,840,015 (GRCm39) N711K possibly damaging Het
Chd2 A G 7: 73,147,558 (GRCm39) F467L possibly damaging Het
Cntn6 A T 6: 104,838,907 (GRCm39) E987V possibly damaging Het
Col11a2 T A 17: 34,272,572 (GRCm39) L286H probably damaging Het
Cwc22 C T 2: 77,759,792 (GRCm39) R85Q possibly damaging Het
Cyp7a1 A C 4: 6,272,587 (GRCm39) F209V probably damaging Het
Dmtn T C 14: 70,852,322 (GRCm39) T189A possibly damaging Het
Dnhd1 C G 7: 105,327,473 (GRCm39) N777K probably benign Het
Dusp16 A T 6: 134,702,842 (GRCm39) C216* probably null Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbn1 T C 2: 125,170,078 (GRCm39) N1993S probably damaging Het
Fbxw22 A G 9: 109,213,030 (GRCm39) S306P probably benign Het
Ferd3l T C 12: 33,978,651 (GRCm39) S55P probably benign Het
Fpr-rs3 A G 17: 20,844,560 (GRCm39) S194P possibly damaging Het
Gm19965 G A 1: 116,748,609 (GRCm39) D97N probably benign Het
Gtpbp2 A G 17: 46,478,914 (GRCm39) probably benign Het
H3c7 G T 13: 23,728,760 (GRCm39) V36L probably benign Het
Hcn3 A C 3: 89,067,152 (GRCm39) I72S possibly damaging Het
Hk3 T A 13: 55,162,278 (GRCm39) N109Y probably damaging Het
Iqub T C 6: 24,505,737 (GRCm39) E57G possibly damaging Het
Kcnk3 T A 5: 30,779,397 (GRCm39) M149K possibly damaging Het
Kcp C T 6: 29,505,719 (GRCm39) G51D probably benign Het
Kif26a C A 12: 112,113,263 (GRCm39) A53D probably damaging Het
Lifr T A 15: 7,202,418 (GRCm39) I353K probably benign Het
Llph A T 10: 120,067,189 (GRCm39) N102I probably damaging Het
Lmo3 C A 6: 138,393,566 (GRCm39) R18L possibly damaging Het
Lrrc46 T C 11: 96,926,371 (GRCm39) E175G probably benign Het
Ltk A T 2: 119,585,075 (GRCm39) C128* probably null Het
Map1b T C 13: 99,571,275 (GRCm39) E482G probably damaging Het
Mapk8ip2 T C 15: 89,344,655 (GRCm39) V740A probably damaging Het
Miga2 T C 2: 30,261,175 (GRCm39) W157R probably benign Het
Mlip A G 9: 77,009,675 (GRCm39) *837Q probably null Het
Mroh2a G T 1: 88,182,657 (GRCm39) R1195L possibly damaging Het
Myl1 T C 1: 66,984,217 (GRCm39) probably benign Het
Or1l4 T C 2: 37,092,189 (GRCm39) L312P possibly damaging Het
Or2a5 T C 6: 42,873,750 (GRCm39) Y122H probably benign Het
Or51ab3 A G 7: 103,201,075 (GRCm39) I28V probably benign Het
P3h3 A T 6: 124,834,331 (GRCm39) V107D probably benign Het
Papolb A T 5: 142,514,651 (GRCm39) S331T possibly damaging Het
Pars2 T G 4: 106,511,700 (GRCm39) V494G probably benign Het
Pcdhb3 C A 18: 37,434,763 (GRCm39) T243K probably benign Het
Pde9a T A 17: 31,689,698 (GRCm39) M415K probably damaging Het
Ppp1r9b G A 11: 94,882,974 (GRCm39) A201T probably benign Het
Prl A G 13: 27,248,942 (GRCm39) N197S possibly damaging Het
Prl2c1 T A 13: 28,035,724 (GRCm39) M32K probably benign Het
Prrt4 T C 6: 29,170,737 (GRCm39) S572G possibly damaging Het
Psd T A 19: 46,310,858 (GRCm39) D397V probably damaging Het
Psme2b A T 11: 48,836,307 (GRCm39) Y213* probably null Het
Ptcd3 T A 6: 71,874,094 (GRCm39) probably null Het
Ptprk T G 10: 28,210,480 (GRCm39) F167L probably damaging Het
Rfx7 T C 9: 72,524,226 (GRCm39) V472A probably damaging Het
Sanbr A G 11: 23,575,100 (GRCm39) L58P probably damaging Het
Scnn1g T C 7: 121,339,576 (GRCm39) L125S probably damaging Het
Sec16a T C 2: 26,320,124 (GRCm39) Y1438C probably damaging Het
Serinc3 C T 2: 163,476,366 (GRCm39) S155N probably benign Het
Slc3a2 A T 19: 8,690,996 (GRCm39) V78E probably damaging Het
Slc44a4 T A 17: 35,140,044 (GRCm39) L23Q probably damaging Het
Slco5a1 C T 1: 12,951,420 (GRCm39) probably benign Het
Slit1 A G 19: 41,605,154 (GRCm39) M899T probably benign Het
Sorl1 A G 9: 41,933,688 (GRCm39) I1094T probably benign Het
Spag9 T A 11: 93,972,196 (GRCm39) L258Q probably benign Het
Strip1 T C 3: 107,526,252 (GRCm39) E488G possibly damaging Het
Stx18 G A 5: 38,262,235 (GRCm39) D30N possibly damaging Het
Sync T C 4: 129,181,583 (GRCm39) probably null Het
Syncrip A G 9: 88,358,849 (GRCm39) V220A probably damaging Het
Tagln2 T C 1: 172,333,476 (GRCm39) I110T probably benign Het
Taok1 T C 11: 77,432,627 (GRCm39) T729A probably benign Het
Tgfbrap1 C T 1: 43,106,759 (GRCm39) V75I possibly damaging Het
Tnfrsf21 A G 17: 43,327,957 (GRCm39) T24A probably benign Het
Tnxb T A 17: 34,932,131 (GRCm39) D2221E probably damaging Het
Triml1 A G 8: 43,583,603 (GRCm39) S333P probably damaging Het
Trp53bp1 C A 2: 121,029,594 (GRCm39) R1862L probably damaging Het
Tsc22d1 T G 14: 76,655,732 (GRCm39) I737S possibly damaging Het
U2af2 A T 7: 5,082,273 (GRCm39) K462N possibly damaging Het
Ubap2 A C 4: 41,233,631 (GRCm39) N86K probably damaging Het
Uso1 A G 5: 92,343,207 (GRCm39) K764E probably benign Het
Vmn1r192 T A 13: 22,372,122 (GRCm39) M33L 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
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
R8753:C2cd3 UTSW 7 100,049,024 (GRCm39) critical splice donor site 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'- CAGACAGGGAAGTCTTACAGTTAG -3'
(R):5'- ATCTGCTGAGAGAGTGGCTG -3'

Sequencing Primer
(F):5'- GTTACTGGAAGCTGAAGAAAATTTG -3'
(R):5'- AGTGGCTGTGCTTCTATCTTCAGC -3'
Posted On 2018-09-12