Incidental Mutation 'IGL00482:C2cd2'
ID3936
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 #IGL00482
Quality Score
Status
Chromosome16
Chromosomal Location97855209-97962598 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 97870220 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 493 (E493G)
Ref Sequence ENSEMBL: ENSMUSP00000127368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170757]
Predicted Effect probably damaging
Transcript: ENSMUST00000170757
AA Change: E493G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127368
Gene: ENSMUSG00000045975
AA Change: E493G

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 unknown
Transcript: ENSMUST00000231575
AA Change: E20G
Predicted Effect unknown
Transcript: ENSMUST00000231903
AA Change: E211G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232063
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232572
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,200,289 T722A probably damaging Het
Akr1b10 G T 6: 34,388,902 probably benign Het
Amy1 G T 3: 113,556,132 T463K probably damaging Het
Arid4b T C 13: 14,191,134 probably benign Het
Arl2 A G 19: 6,141,052 L17P probably damaging Het
Cdk19 A G 10: 40,469,648 E239G possibly damaging Het
Cit A G 5: 115,938,755 D719G probably damaging Het
Commd3 T C 2: 18,673,928 V58A possibly damaging Het
Cyp2c29 A C 19: 39,325,023 D360A probably damaging Het
Eps8 A G 6: 137,505,479 Y492H probably benign Het
Gk A G X: 85,760,601 L78P possibly damaging Het
Gm5884 A T 6: 128,646,203 noncoding transcript Het
Lat2 A T 5: 134,606,776 probably null Het
Lrrc4c C A 2: 97,630,385 S452* probably null Het
Ntsr2 T C 12: 16,659,848 C377R probably damaging Het
Padi3 A C 4: 140,803,624 M29R possibly damaging Het
Pcdh9 A G 14: 93,326,694 S1067P probably damaging Het
Prrc2a T C 17: 35,154,983 D1462G probably damaging Het
Rassf4 A G 6: 116,645,128 F168L possibly damaging Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Siglec1 C T 2: 131,079,325 R642Q probably benign Het
Snrnp200 T G 2: 127,230,135 V1214G possibly damaging Het
Sorcs3 G A 19: 48,603,864 G323S probably benign Het
Spidr A G 16: 16,114,969 V149A possibly damaging Het
Stat4 A T 1: 52,074,697 I189F probably benign Het
Tep1 T C 14: 50,843,184 Y1387C probably damaging Het
Tmprss9 G A 10: 80,894,428 probably null Het
Other mutations in C2cd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02933:C2cd2 APN 16 97892201 missense probably benign 0.22
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 On2012-04-20