Incidental Mutation 'IGL03005:C2cd2'
ID407526
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 #IGL03005
Quality Score
Status
Chromosome16
Chromosomal Location97855209-97962598 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 97859432 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 672 (L672P)
Ref Sequence ENSEMBL: ENSMUSP00000127368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170757]
Predicted Effect probably damaging
Transcript: ENSMUST00000170757
AA Change: L672P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127368
Gene: ENSMUSG00000045975
AA Change: L672P

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: ENSMUST00000232063
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232542
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt3 A T 1: 177,067,227 V268E probably damaging Het
Apob A G 12: 7,993,059 probably benign Het
Arhgap19 T C 19: 41,784,417 probably benign Het
Cars A G 7: 143,559,169 F774L probably damaging Het
Cd200r3 T A 16: 44,953,610 S128R probably damaging Het
Chd9 A G 8: 91,011,447 N1569S probably damaging Het
Chmp7 G A 14: 69,719,828 R294C probably damaging Het
Col10a1 A T 10: 34,395,738 I569F probably damaging Het
Cspg4 T A 9: 56,888,488 V1169D probably damaging Het
Doxl2 T A 6: 48,976,546 Y468* probably null Het
Emg1 G A 6: 124,704,594 T229I probably damaging Het
Fmo9 C T 1: 166,674,519 S179N probably benign Het
Frem1 T C 4: 82,994,134 Y667C probably damaging Het
Gm21949 C A 3: 68,618,677 Q395K possibly damaging Het
Gpsm2 A G 3: 108,687,006 probably benign Het
Gsdma A T 11: 98,676,259 E395V probably damaging Het
Gsdmd C T 15: 75,867,166 T464M possibly damaging Het
Lipo1 T C 19: 33,785,736 I36V possibly damaging Het
Lrrtm1 A G 6: 77,244,156 S199G probably damaging Het
Lypla1 C T 1: 4,832,390 probably benign Het
Mst1r C T 9: 107,914,549 Q809* probably null Het
Mtr T A 13: 12,235,449 probably benign Het
Olfr1238 G A 2: 89,406,971 T36I possibly damaging Het
Pax7 T A 4: 139,828,696 I156F probably damaging Het
Pcdhb8 T A 18: 37,357,534 L755Q probably damaging Het
Pdzd2 G A 15: 12,385,265 P1140S probably damaging Het
Pdzrn4 T C 15: 92,770,391 L808P probably damaging Het
Pex1 G T 5: 3,630,292 Q971H probably null Het
Pld1 T A 3: 28,087,253 V655E possibly damaging Het
Pnpla3 C T 15: 84,174,268 R163W probably damaging Het
Rabgef1 T C 5: 130,208,797 L237P probably damaging Het
Setbp1 A T 18: 78,859,125 N442K possibly damaging Het
Sorl1 T G 9: 42,057,325 D544A probably damaging Het
Spire2 C A 8: 123,363,368 P490T probably benign Het
Tmem8 C T 17: 26,118,937 L432F probably benign Het
Zeb1 T A 18: 5,767,150 S554T 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
IGL02502:C2cd2 APN 16 97876390 missense possibly damaging 0.85
IGL02933:C2cd2 APN 16 97892201 missense probably benign 0.22
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 On2016-08-02