Incidental Mutation 'IGL02502:C2cd2'
ID296096
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 #IGL02502
Quality Score
Status
Chromosome16
Chromosomal Location97855209-97962598 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 97876390 bp
ZygosityHeterozygous
Amino Acid Change Serine to Tyrosine at position 378 (S378Y)
Ref Sequence ENSEMBL: ENSMUSP00000127368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170757]
Predicted Effect possibly damaging
Transcript: ENSMUST00000170757
AA Change: S378Y

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127368
Gene: ENSMUSG00000045975
AA Change: S378Y

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: ENSMUST00000200252
Predicted Effect unknown
Transcript: ENSMUST00000231903
AA Change: S65Y
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A G 2: 128,075,884 N216S probably damaging Het
Akap12 A G 10: 4,353,163 D96G probably damaging Het
Akna A G 4: 63,368,203 V1353A probably benign Het
Ambra1 A G 2: 91,900,532 D914G probably damaging Het
Ap1s3 A G 1: 79,623,722 V84A possibly damaging Het
Arhgef6 T C X: 57,280,263 E282G probably damaging Het
Cd101 C A 3: 101,011,825 A654S probably damaging Het
Cep295 A C 9: 15,350,913 probably benign Het
Csn1s1 A G 5: 87,680,925 I283V probably benign Het
Cst3 A G 2: 148,875,145 probably benign Het
Cyp2b9 T C 7: 26,187,814 probably null Het
Dffb A G 4: 153,965,616 probably benign Het
Dnah10 A G 5: 124,821,287 Y3711C probably damaging Het
Eif4g2 T C 7: 111,081,541 S3G probably damaging Het
Erbb3 C T 10: 128,570,284 R1088H probably benign Het
Evpl T C 11: 116,222,718 D1382G probably damaging Het
Fam168a A G 7: 100,824,210 D102G probably damaging Het
Fbxo7 A G 10: 86,033,297 Y284C probably damaging Het
G6pd2 T C 5: 61,809,628 Y249H probably damaging Het
Gm1123 A T 9: 99,009,390 Y335* probably null Het
Gm5624 C T 14: 44,559,839 probably null Het
Hectd1 A T 12: 51,797,852 M536K possibly damaging Het
Ikbkg T A X: 74,443,827 V334E probably benign Het
Ipo7 T C 7: 110,051,050 L769P probably damaging Het
Jmjd1c A T 10: 67,225,861 K1331I probably benign Het
Krt32 T C 11: 100,087,923 K102E probably damaging Het
Lrrc34 A T 3: 30,645,245 N20K probably benign Het
Lrrc47 A G 4: 154,016,014 E349G probably benign Het
Mdn1 A G 4: 32,670,579 I415V possibly damaging Het
Myh10 A G 11: 68,814,372 probably null Het
Nbeal2 A G 9: 110,633,768 S1376P probably damaging Het
Nfx1 T C 4: 40,976,345 probably benign Het
Notch3 A T 17: 32,158,278 C246* probably null Het
Nr3c2 A G 8: 77,242,514 Y976C probably damaging Het
Olfr1484 A G 19: 13,585,748 Y105C probably damaging Het
Olfr503 T A 7: 108,544,639 M36K probably damaging Het
Olfr64 A G 7: 103,893,489 V82A probably damaging Het
P2rx7 C T 5: 122,680,987 R491C possibly damaging Het
Pdzd3 G A 9: 44,249,651 A206V probably benign Het
Phex T A X: 157,183,827 Y625F possibly damaging Het
Pkhd1 T C 1: 20,392,165 D2055G probably damaging Het
Pmm2 T C 16: 8,645,363 probably benign Het
Prdm15 T C 16: 97,839,339 D16G probably damaging Het
Prune2 T A 19: 17,123,881 C2250S probably benign Het
Rasgef1a T A 6: 118,080,482 F48Y probably benign Het
Rhoq T C 17: 86,963,649 V15A probably damaging Het
Rnf216 G A 5: 143,068,867 A585V probably damaging Het
Sept9 T A 11: 117,290,662 I96N probably damaging Het
Shprh T A 10: 11,194,357 D1492E possibly damaging Het
Slc22a26 A T 19: 7,790,760 probably null Het
Tek T G 4: 94,853,581 probably null Het
Tenm3 T C 8: 48,288,016 E782G probably damaging Het
Trmt5 A G 12: 73,281,227 C401R probably benign Het
Tspear T G 10: 77,852,958 probably benign Het
Ubr5 G A 15: 38,030,689 T414I probably benign Het
Vcl A T 14: 21,019,385 T710S probably damaging Het
Vmn2r25 A T 6: 123,839,433 D396E probably damaging Het
Wtip A G 7: 34,118,669 probably null Het
Zap70 A G 1: 36,778,806 probably benign 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
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 On2015-04-16