Incidental Mutation 'IGL02933:C2cd2'
ID364181
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C2cd2
Ensembl Gene ENSMUSG00000045975
Gene NameC2 calcium-dependent domain containing 2
SynonymsORF25, 5830404H04Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02933
Quality Score
Status
Chromosome16
Chromosomal Location97855209-97962598 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 97892201 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 157 (F157I)
Ref Sequence ENSEMBL: ENSMUSP00000127368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170757] [ENSMUST00000232165]
Predicted Effect probably benign
Transcript: ENSMUST00000170757
AA Change: F157I

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000127368
Gene: ENSMUSG00000045975
AA Change: F157I

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
low complexity region 106 122 N/A INTRINSIC
Pfam:C2 232 359 1.9e-6 PFAM
low complexity region 410 421 N/A INTRINSIC
low complexity region 491 517 N/A INTRINSIC
low complexity region 605 616 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231332
Predicted Effect probably benign
Transcript: ENSMUST00000232165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232572
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik G T 7: 44,363,012 S24Y possibly damaging Het
Adam15 T C 3: 89,343,483 T609A possibly damaging Het
Ank1 C T 8: 23,122,865 T1485I possibly damaging Het
Bbof1 A G 12: 84,426,966 N357D probably damaging Het
Btn1a1 A G 13: 23,460,527 F267S possibly damaging Het
Cd55 T C 1: 130,452,524 E239G probably damaging Het
Cnpy1 T A 5: 28,207,121 H138L probably benign Het
Cpne4 T C 9: 105,019,767 V373A possibly damaging Het
Dlg5 A T 14: 24,158,499 S880T probably benign Het
Etv1 C T 12: 38,781,833 T27I probably benign Het
Fam227b T A 2: 126,123,988 probably null Het
Flcn T C 11: 59,803,757 S130G probably damaging Het
Flvcr2 T C 12: 85,803,128 probably benign Het
Git1 C A 11: 77,501,076 H241Q probably damaging Het
Gm14496 T A 2: 182,000,463 H642Q probably benign Het
Idh1 C T 1: 65,161,913 S293N probably damaging Het
Itpr2 A G 6: 146,312,904 S1449P probably benign Het
Mmel1 T A 4: 154,883,630 L141Q probably damaging Het
Morn4 A G 19: 42,076,222 I109T probably benign Het
Mrgprh T C 17: 12,877,709 Y279H probably damaging Het
Olfr356 T A 2: 36,937,298 Y60N probably damaging Het
Osbpl8 T C 10: 111,282,130 I578T probably damaging Het
Reg2 A G 6: 78,407,934 Y153C probably damaging Het
Sall2 T C 14: 52,313,027 S902G probably benign Het
Sesn3 C T 9: 14,321,208 T259M probably damaging Het
Traf1 C A 2: 34,949,095 D73Y possibly damaging Het
Trnt1 G A 6: 106,773,426 G97D probably benign Het
Ttll11 T C 2: 35,979,410 H72R probably benign Het
Txndc12 T C 4: 108,857,996 probably null Het
Zan C A 5: 137,428,414 S2490I unknown Het
Zfp955a T C 17: 33,243,709 probably null Het
Zfyve26 A C 12: 79,280,080 S756R possibly damaging Het
Zmynd8 T C 2: 165,828,318 N412S possibly damaging Het
Other mutations in C2cd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:C2cd2 APN 16 97870220 missense probably damaging 1.00
IGL01633:C2cd2 APN 16 97875123 splice site probably benign
IGL01731:C2cd2 APN 16 97870172 missense probably damaging 1.00
IGL02071:C2cd2 APN 16 97870232 missense probably damaging 1.00
IGL02086:C2cd2 APN 16 97890008 splice site probably benign
IGL02502:C2cd2 APN 16 97876390 missense possibly damaging 0.85
IGL03005:C2cd2 APN 16 97859432 missense probably damaging 0.99
IGL03493:C2cd2 APN 16 97881661 missense probably damaging 0.97
H8562:C2cd2 UTSW 16 97879640 missense possibly damaging 0.91
H8786:C2cd2 UTSW 16 97879640 missense possibly damaging 0.91
R0480:C2cd2 UTSW 16 97877148 missense probably benign 0.45
R0483:C2cd2 UTSW 16 97859588 splice site probably benign
R0541:C2cd2 UTSW 16 97922296 missense possibly damaging 0.66
R1294:C2cd2 UTSW 16 97922269 missense probably damaging 1.00
R1986:C2cd2 UTSW 16 97870271 missense probably damaging 1.00
R2518:C2cd2 UTSW 16 97922086 missense probably benign 0.01
R5468:C2cd2 UTSW 16 97868591 unclassified probably null
R5507:C2cd2 UTSW 16 97881620 missense probably benign 0.01
R5979:C2cd2 UTSW 16 97875218 missense probably benign 0.01
R6466:C2cd2 UTSW 16 97879622 missense probably benign
R7264:C2cd2 UTSW 16 97876219 critical splice donor site probably null
R7372:C2cd2 UTSW 16 97875380 missense
Posted On2015-12-18