Incidental Mutation 'IGL02086:C2cd2'
ID 285494
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C2cd2
Ensembl Gene ENSMUSG00000045975
Gene Name C2 calcium-dependent domain containing 2
Synonyms 5830404H04Rik, ORF25
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02086
Quality Score
Status
Chromosome 16
Chromosomal Location 97656409-97727248 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 97691208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170757] [ENSMUST00000232165]
AlphaFold E9Q3C1
Predicted Effect probably benign
Transcript: ENSMUST00000170757
SMART Domains Protein: ENSMUSP00000127368
Gene: ENSMUSG00000045975

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930426L09Rik T C 2: 19,003,623 (GRCm39) probably benign Het
Abi3bp A G 16: 56,462,930 (GRCm39) probably benign Het
Asb4 T C 6: 5,398,386 (GRCm39) I117T probably benign Het
Birc6 T G 17: 74,946,822 (GRCm39) L2847R probably damaging Het
Ccdc77 C A 6: 120,316,119 (GRCm39) C186F possibly damaging Het
Cd300ld2 T A 11: 114,903,384 (GRCm39) probably benign Het
Cd55b A T 1: 130,345,919 (GRCm39) D166E probably benign Het
Cfap100 A G 6: 90,390,954 (GRCm39) F8L probably damaging Het
Col2a1 C T 15: 97,884,618 (GRCm39) probably null Het
Dbf4 A G 5: 8,453,189 (GRCm39) I270T probably benign Het
Dkk3 T C 7: 111,748,236 (GRCm39) S123G probably benign Het
Ep400 A G 5: 110,824,809 (GRCm39) probably benign Het
Fam184a A G 10: 53,575,351 (GRCm39) I30T probably damaging Het
Fam20a T C 11: 109,564,239 (GRCm39) I505V probably benign Het
Fbh1 T C 2: 11,768,938 (GRCm39) D285G probably benign Het
Fcho1 T C 8: 72,169,444 (GRCm39) E154G probably damaging Het
Klhdc1 A G 12: 69,329,958 (GRCm39) I362M probably benign Het
Knl1 A T 2: 118,931,255 (GRCm39) E1990D probably benign Het
Lancl2 A G 6: 57,711,024 (GRCm39) Y394C probably damaging Het
Lgi2 G A 5: 52,723,299 (GRCm39) S50F probably damaging Het
Map2k7 A G 8: 4,288,950 (GRCm39) E14G probably damaging Het
Mga A G 2: 119,754,517 (GRCm39) I1009V probably damaging Het
Nat9 C A 11: 115,074,234 (GRCm39) probably null Het
Nek2 G A 1: 191,563,401 (GRCm39) A422T probably benign Het
Nfkbiz A T 16: 55,636,034 (GRCm39) L509Q probably damaging Het
Or56b2 A T 7: 104,337,634 (GRCm39) R137S probably benign Het
Pgap1 T A 1: 54,587,147 (GRCm39) Q143L probably damaging Het
Pkd1l3 C T 8: 110,392,217 (GRCm39) T1937I probably damaging Het
Pou1f1 A G 16: 65,326,784 (GRCm39) E128G probably damaging Het
Ppfia3 T C 7: 44,989,996 (GRCm39) probably benign Het
Prkd1 T C 12: 50,434,046 (GRCm39) I566V probably benign Het
Psd2 A G 18: 36,138,959 (GRCm39) R528G probably damaging Het
Ptprg G T 14: 12,110,080 (GRCm38) E263* probably null Het
Radil T C 5: 142,529,576 (GRCm39) D40G probably benign Het
Ryr2 T A 13: 11,750,442 (GRCm39) Y1943F probably damaging Het
Slc30a4 C T 2: 122,543,947 (GRCm39) probably benign Het
Slc31a1 A T 4: 62,306,241 (GRCm39) T120S possibly damaging Het
Snrpe A G 1: 133,537,487 (GRCm39) probably benign Het
Stx3 G T 19: 11,796,046 (GRCm39) probably benign Het
Thoc2l A G 5: 104,666,867 (GRCm39) E463G possibly damaging Het
Ufsp1 T A 5: 137,293,178 (GRCm39) C43S probably damaging Het
Vac14 T A 8: 111,379,950 (GRCm39) M416K possibly damaging Het
Vmn1r81 A C 7: 11,993,792 (GRCm39) V272G possibly damaging Het
Vmn2r107 T A 17: 20,578,062 (GRCm39) I457K probably benign Het
Vmn2r72 A T 7: 85,387,374 (GRCm39) V730E probably benign Het
Vmn2r9 T C 5: 108,995,433 (GRCm39) Y405C probably damaging Het
Zcchc17 T C 4: 130,210,440 (GRCm39) *242W probably null Het
Zfp503 T C 14: 22,037,354 (GRCm39) K83R possibly damaging Het
Other mutations in C2cd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:C2cd2 APN 16 97,671,420 (GRCm39) missense probably damaging 1.00
IGL01633:C2cd2 APN 16 97,676,323 (GRCm39) splice site probably benign
IGL01731:C2cd2 APN 16 97,671,372 (GRCm39) missense probably damaging 1.00
IGL02071:C2cd2 APN 16 97,671,432 (GRCm39) missense probably damaging 1.00
IGL02502:C2cd2 APN 16 97,677,590 (GRCm39) missense possibly damaging 0.85
IGL02933:C2cd2 APN 16 97,693,401 (GRCm39) missense probably benign 0.22
IGL03005:C2cd2 APN 16 97,660,632 (GRCm39) missense probably damaging 0.99
IGL03493:C2cd2 APN 16 97,682,861 (GRCm39) missense probably damaging 0.97
H8562:C2cd2 UTSW 16 97,680,840 (GRCm39) missense possibly damaging 0.91
H8786:C2cd2 UTSW 16 97,680,840 (GRCm39) missense possibly damaging 0.91
R0480:C2cd2 UTSW 16 97,678,348 (GRCm39) missense probably benign 0.45
R0483:C2cd2 UTSW 16 97,660,788 (GRCm39) splice site probably benign
R0541:C2cd2 UTSW 16 97,723,496 (GRCm39) missense possibly damaging 0.66
R1294:C2cd2 UTSW 16 97,723,469 (GRCm39) missense probably damaging 1.00
R1986:C2cd2 UTSW 16 97,671,471 (GRCm39) missense probably damaging 1.00
R2518:C2cd2 UTSW 16 97,723,286 (GRCm39) missense probably benign 0.01
R5468:C2cd2 UTSW 16 97,669,791 (GRCm39) splice site probably null
R5507:C2cd2 UTSW 16 97,682,820 (GRCm39) missense probably benign 0.01
R5979:C2cd2 UTSW 16 97,676,418 (GRCm39) missense probably benign 0.01
R6466:C2cd2 UTSW 16 97,680,822 (GRCm39) missense probably benign
R7264:C2cd2 UTSW 16 97,677,419 (GRCm39) critical splice donor site probably null
R7372:C2cd2 UTSW 16 97,676,580 (GRCm39) missense
R8003:C2cd2 UTSW 16 97,687,286 (GRCm39) critical splice donor site probably null
R8181:C2cd2 UTSW 16 97,693,502 (GRCm39) missense probably benign 0.21
R8340:C2cd2 UTSW 16 97,670,013 (GRCm39) missense probably benign 0.00
R8506:C2cd2 UTSW 16 97,676,621 (GRCm39) missense
R9072:C2cd2 UTSW 16 97,676,403 (GRCm39) missense probably damaging 1.00
R9145:C2cd2 UTSW 16 97,677,486 (GRCm39) missense probably damaging 1.00
R9175:C2cd2 UTSW 16 97,678,421 (GRCm39) missense probably benign 0.00
R9369:C2cd2 UTSW 16 97,723,333 (GRCm39) missense possibly damaging 0.58
R9659:C2cd2 UTSW 16 97,723,473 (GRCm39) missense possibly damaging 0.87
R9668:C2cd2 UTSW 16 97,671,418 (GRCm39) missense probably damaging 1.00
R9788:C2cd2 UTSW 16 97,723,473 (GRCm39) missense possibly damaging 0.87
Posted On 2015-04-16