Incidental Mutation 'R5664:C2cd2l'
ID 444273
Institutional Source Beutler Lab
Gene Symbol C2cd2l
Ensembl Gene ENSMUSG00000032120
Gene Name C2 calcium-dependent domain containing 2-like
Synonyms Tmem24, 1300006O23Rik
MMRRC Submission 043307-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R5664 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 44220534-44231579 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44225069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 548 (E548G)
Ref Sequence ENSEMBL: ENSMUSP00000065233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065080] [ENSMUST00000213160] [ENSMUST00000214602] [ENSMUST00000216222]
AlphaFold Q80X80
Predicted Effect probably damaging
Transcript: ENSMUST00000065080
AA Change: E548G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065233
Gene: ENSMUSG00000032120
AA Change: E548G

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
low complexity region 67 79 N/A INTRINSIC
SCOP:d1qasa2 284 408 4e-3 SMART
Blast:C2 287 395 9e-62 BLAST
low complexity region 417 430 N/A INTRINSIC
low complexity region 444 452 N/A INTRINSIC
low complexity region 483 503 N/A INTRINSIC
low complexity region 566 587 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000213160
AA Change: E109G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213298
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213818
Predicted Effect probably damaging
Transcript: ENSMUST00000214602
AA Change: E548G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000216222
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216855
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214915
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik T A 6: 72,325,977 (GRCm39) probably null Het
9430015G10Rik T A 4: 156,208,016 (GRCm39) L112H probably damaging Het
Acaca T C 11: 84,134,210 (GRCm39) L441P probably damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Arsj A T 3: 126,232,306 (GRCm39) I351F probably damaging Het
Atp6v1b2 A G 8: 69,560,272 (GRCm39) T373A probably damaging Het
Atr C A 9: 95,787,866 (GRCm39) N1486K probably benign Het
Avl9 T C 6: 56,730,824 (GRCm39) S583P probably damaging Het
Bptf A T 11: 106,964,525 (GRCm39) D1493E probably benign Het
Brme1 A T 8: 84,893,288 (GRCm39) I152F probably benign Het
Capn3 G A 2: 120,307,506 (GRCm39) R15Q probably benign Het
Ccl3 A G 11: 83,540,039 (GRCm39) F22S probably benign Het
Clcf1 T C 19: 4,272,150 (GRCm39) F69S probably damaging Het
Col13a1 T C 10: 61,686,895 (GRCm39) E170G probably damaging Het
Dhx29 T A 13: 113,083,413 (GRCm39) F489L probably damaging Het
Dhx8 A T 11: 101,631,577 (GRCm39) N390I probably damaging Het
Dkk1 T A 19: 30,526,189 (GRCm39) Y135F probably benign Het
Edil3 G T 13: 89,467,832 (GRCm39) V446F probably damaging Het
Epha5 T A 5: 84,479,725 (GRCm39) E93V probably damaging Het
Epsti1 C T 14: 78,201,104 (GRCm39) T196I possibly damaging Het
Fras1 T C 5: 96,876,394 (GRCm39) S2376P possibly damaging Het
Frem2 A G 3: 53,559,911 (GRCm39) V1532A probably benign Het
Fsip2 T A 2: 82,818,439 (GRCm39) M4724K probably benign Het
Gcat T A 15: 78,927,273 (GRCm39) L238Q probably damaging Het
Gimap6 T C 6: 48,679,209 (GRCm39) K276E probably benign Het
Gjb5 T A 4: 127,249,722 (GRCm39) I141F probably benign Het
Glt6d1 T C 2: 25,704,192 (GRCm39) I7V probably benign Het
Gtf2h5 G A 17: 6,134,799 (GRCm39) G30R probably damaging Het
Herc6 C A 6: 57,595,669 (GRCm39) T449K probably benign Het
Hpn A T 7: 30,798,687 (GRCm39) Y132N probably damaging Het
Hpx A T 7: 105,244,355 (GRCm39) M190K probably benign Het
Inf2 A G 12: 112,578,162 (GRCm39) H1151R unknown Het
Krt74 A G 15: 101,669,014 (GRCm39) noncoding transcript Het
Loxl3 G A 6: 83,026,863 (GRCm39) S564N probably benign Het
Map7 T A 10: 20,143,105 (GRCm39) V418E unknown Het
Mrpl37 T C 4: 106,921,588 (GRCm39) N214D probably benign Het
Mthfr T C 4: 148,139,923 (GRCm39) Y656H probably damaging Het
Myo9b A G 8: 71,812,526 (GRCm39) D2099G probably benign Het
Nktr T A 9: 121,578,483 (GRCm39) C825* probably null Het
Nomo1 A G 7: 45,725,581 (GRCm39) E1029G probably benign Het
Nup133 T C 8: 124,633,020 (GRCm39) D1037G probably benign Het
Or4b12 A G 2: 90,095,959 (GRCm39) F272L probably damaging Het
Or5w22 T C 2: 87,363,178 (GRCm39) L267P probably benign Het
Pcdhb14 T A 18: 37,582,049 (GRCm39) V385D possibly damaging Het
Pik3c2g T C 6: 139,682,733 (GRCm39) L38P probably damaging Het
Pkd1 A T 17: 24,788,345 (GRCm39) D701V probably damaging Het
Pnpla6 A G 8: 3,587,478 (GRCm39) T1070A probably damaging Het
Ppl T C 16: 4,923,919 (GRCm39) D185G probably benign Het
Prp2rt C A 13: 97,235,629 (GRCm39) L39F probably damaging Het
Prss1l C T 6: 41,371,605 (GRCm39) P17L probably benign Het
Prune1 A T 3: 95,165,489 (GRCm39) L261Q probably damaging Het
Qser1 A T 2: 104,608,541 (GRCm39) L1444I probably damaging Het
Serpina6 A C 12: 103,620,726 (GRCm39) C8G probably damaging Het
Sla2 A T 2: 156,716,919 (GRCm39) D180E probably benign Het
Slc4a4 C T 5: 89,176,103 (GRCm39) L25F probably damaging Het
Snhg16 A T 11: 116,563,490 (GRCm39) T27S possibly damaging Het
Tbx3 A G 5: 119,816,796 (GRCm39) K311R possibly damaging Het
Tdpoz6 A G 3: 93,599,994 (GRCm39) F125S probably benign Het
Thbs2 A T 17: 14,910,099 (GRCm39) C167S probably damaging Het
Trak1 T A 9: 121,301,373 (GRCm39) C710S possibly damaging Het
Tsks G A 7: 44,603,208 (GRCm39) E337K probably damaging Het
Vcpip1 A G 1: 9,816,604 (GRCm39) I593T probably damaging Het
Vmn2r118 A G 17: 55,899,765 (GRCm39) I713T possibly damaging Het
Vmn2r23 C T 6: 123,690,033 (GRCm39) T303M probably damaging Het
Vmn2r68 A T 7: 84,882,978 (GRCm39) M258K probably benign Het
Vmn2r76 A G 7: 85,895,202 (GRCm39) probably null Het
Wap A G 11: 6,588,609 (GRCm39) I5T possibly damaging Het
Zfp235 A C 7: 23,841,576 (GRCm39) H665P probably damaging Het
Other mutations in C2cd2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00472:C2cd2l APN 9 44,228,400 (GRCm39) missense probably damaging 1.00
IGL01304:C2cd2l APN 9 44,230,884 (GRCm39) missense probably damaging 0.96
IGL02402:C2cd2l APN 9 44,227,878 (GRCm39) missense probably benign 0.31
R0701:C2cd2l UTSW 9 44,227,499 (GRCm39) missense probably damaging 1.00
R0883:C2cd2l UTSW 9 44,227,499 (GRCm39) missense probably damaging 1.00
R1321:C2cd2l UTSW 9 44,228,878 (GRCm39) critical splice donor site probably null
R1594:C2cd2l UTSW 9 44,228,070 (GRCm39) missense probably damaging 1.00
R1665:C2cd2l UTSW 9 44,228,072 (GRCm39) missense probably benign 0.07
R1700:C2cd2l UTSW 9 44,227,909 (GRCm39) missense probably benign 0.00
R1739:C2cd2l UTSW 9 44,231,040 (GRCm39) missense probably benign 0.26
R1770:C2cd2l UTSW 9 44,228,108 (GRCm39) missense probably benign 0.02
R2065:C2cd2l UTSW 9 44,227,632 (GRCm39) missense probably benign 0.19
R4669:C2cd2l UTSW 9 44,226,322 (GRCm39) missense possibly damaging 0.92
R4835:C2cd2l UTSW 9 44,226,442 (GRCm39) critical splice donor site probably null
R4890:C2cd2l UTSW 9 44,222,430 (GRCm39) missense probably damaging 1.00
R4916:C2cd2l UTSW 9 44,227,857 (GRCm39) missense probably damaging 0.97
R6268:C2cd2l UTSW 9 44,228,963 (GRCm39) missense probably damaging 1.00
R6339:C2cd2l UTSW 9 44,224,788 (GRCm39) splice site probably benign
R7043:C2cd2l UTSW 9 44,227,848 (GRCm39) missense probably damaging 1.00
R7236:C2cd2l UTSW 9 44,228,960 (GRCm39) missense possibly damaging 0.71
R7532:C2cd2l UTSW 9 44,226,681 (GRCm39) missense probably benign 0.41
R8239:C2cd2l UTSW 9 44,227,502 (GRCm39) missense possibly damaging 0.75
R9482:C2cd2l UTSW 9 44,227,914 (GRCm39) missense probably damaging 1.00
R9557:C2cd2l UTSW 9 44,231,127 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TGTCTGAACGTGTTGTCTCATC -3'
(R):5'- TGGCTTGGATCCAGTAGCAG -3'

Sequencing Primer
(F):5'- CTGCCTCCTGGACACTTGTGG -3'
(R):5'- GTAGCAGAGACAGCCATTCGC -3'
Posted On 2016-11-09