Incidental Mutation 'IGL02402:C2cd2l'
ID291935
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C2cd2l
Ensembl Gene ENSMUSG00000032120
Gene NameC2 calcium-dependent domain containing 2-like
Synonyms1300006O23Rik, Tmem24
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.096) question?
Stock #IGL02402
Quality Score
Status
Chromosome9
Chromosomal Location44309237-44320285 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 44316581 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 121 (K121R)
Ref Sequence ENSEMBL: ENSMUSP00000149342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065080] [ENSMUST00000213160] [ENSMUST00000214602] [ENSMUST00000216222]
Predicted Effect probably benign
Transcript: ENSMUST00000065080
AA Change: K243R

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000065233
Gene: ENSMUSG00000032120
AA Change: K243R

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 probably benign
Transcript: ENSMUST00000213160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213298
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213818
Predicted Effect probably benign
Transcript: ENSMUST00000214602
AA Change: K243R

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214915
Predicted Effect probably benign
Transcript: ENSMUST00000216222
AA Change: K121R

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216855
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,559,424 F568L probably benign Het
Arntl2 T C 6: 146,809,768 V90A possibly damaging Het
AW112010 T A 19: 11,048,377 noncoding transcript Het
Bbs4 A T 9: 59,330,446 L205H probably benign Het
Car14 A G 3: 95,899,558 V198A possibly damaging Het
Cd22 G T 7: 30,877,530 H117Q possibly damaging Het
Celf1 T A 2: 90,998,723 I45N probably damaging Het
Cluh T C 11: 74,657,171 S103P probably damaging Het
Cyp39a1 T A 17: 43,691,722 L276Q probably benign Het
Ddx27 T G 2: 167,015,325 probably benign Het
Defb4 A T 8: 19,201,263 I49F possibly damaging Het
Dock8 C A 19: 25,078,145 T157K probably benign Het
Dpp6 T C 5: 27,634,543 V352A probably damaging Het
Elmo2 C T 2: 165,297,392 E412K probably damaging Het
Eme1 G A 11: 94,650,907 P30S possibly damaging Het
Espnl G T 1: 91,344,813 A632S probably benign Het
Gfod1 C A 13: 43,200,735 A255S probably benign Het
Helz2 T A 2: 181,230,911 K2432M probably damaging Het
Idua T C 5: 108,679,791 L157P probably damaging Het
Ifi207 T A 1: 173,727,593 D848V probably damaging Het
Jag1 C T 2: 137,085,938 S851N possibly damaging Het
Kat6b T A 14: 21,631,347 F571I probably damaging Het
Lrrc74b G A 16: 17,558,164 probably benign Het
Mst1r A G 9: 107,916,827 K1160E probably damaging Het
Muc19 C A 15: 91,893,998 noncoding transcript Het
Nrg4 G A 9: 55,227,914 probably benign Het
Ociad1 T C 5: 73,300,694 I12T possibly damaging Het
Olfr98 A G 17: 37,263,220 V148A possibly damaging Het
Pold3 A G 7: 100,100,411 probably benign Het
Psmd5 T C 2: 34,857,772 E291G probably damaging Het
Ptpn23 A G 9: 110,393,713 V92A possibly damaging Het
Rab44 T A 17: 29,140,516 H559Q probably benign Het
Rbm6 T C 9: 107,852,852 D199G probably damaging Het
Rps18-ps3 C T 8: 107,263,122 noncoding transcript Het
Sept10 T C 10: 59,170,936 T93A probably benign Het
Slmap T C 14: 26,463,710 T111A probably damaging Het
Spata25 C T 2: 164,828,457 M1I probably null Het
Spink5 T A 18: 43,967,104 C63S probably damaging Het
Sycp3 T C 10: 88,466,563 probably benign Het
Tarbp1 A G 8: 126,450,828 probably benign Het
Thbs2 A T 17: 14,671,454 N940K probably benign Het
Tmem106b A T 6: 13,081,601 Q169L possibly damaging Het
Trpm6 G T 19: 18,786,756 C242F probably benign Het
Ush2a T A 1: 188,267,108 M205K probably benign Het
Utp18 A C 11: 93,883,791 probably benign Het
Other mutations in C2cd2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00472:C2cd2l APN 9 44317103 missense probably damaging 1.00
IGL01304:C2cd2l APN 9 44319587 missense probably damaging 0.96
R0701:C2cd2l UTSW 9 44316202 missense probably damaging 1.00
R0883:C2cd2l UTSW 9 44316202 missense probably damaging 1.00
R1321:C2cd2l UTSW 9 44317581 critical splice donor site probably null
R1594:C2cd2l UTSW 9 44316773 missense probably damaging 1.00
R1665:C2cd2l UTSW 9 44316775 missense probably benign 0.07
R1700:C2cd2l UTSW 9 44316612 missense probably benign 0.00
R1739:C2cd2l UTSW 9 44319743 missense probably benign 0.26
R1770:C2cd2l UTSW 9 44316811 missense probably benign 0.02
R2065:C2cd2l UTSW 9 44316335 missense probably benign 0.19
R4669:C2cd2l UTSW 9 44315025 missense possibly damaging 0.92
R4835:C2cd2l UTSW 9 44315145 critical splice donor site probably null
R4890:C2cd2l UTSW 9 44311133 missense probably damaging 1.00
R4916:C2cd2l UTSW 9 44316560 missense probably damaging 0.97
R5664:C2cd2l UTSW 9 44313772 missense probably damaging 1.00
R6268:C2cd2l UTSW 9 44317666 missense probably damaging 1.00
R6339:C2cd2l UTSW 9 44313491 splice site probably benign
R7043:C2cd2l UTSW 9 44316551 missense probably damaging 1.00
R7236:C2cd2l UTSW 9 44317663 missense possibly damaging 0.71
R7532:C2cd2l UTSW 9 44315384 missense probably benign 0.41
R8239:C2cd2l UTSW 9 44316205 missense possibly damaging 0.75
Posted On2015-04-16