Incidental Mutation 'IGL02660:C2cd4c'
ID 302508
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C2cd4c
Ensembl Gene ENSMUSG00000045912
Gene Name C2 calcium-dependent domain containing 4C
Synonyms 4932409I22Rik, LOC237397, Fam148c
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # IGL02660
Quality Score
Status
Chromosome 10
Chromosomal Location 79442688-79449859 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79449136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 4 (T4S)
Ref Sequence ENSEMBL: ENSMUSP00000136013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059699] [ENSMUST00000178228]
AlphaFold Q5HZI2
Predicted Effect probably benign
Transcript: ENSMUST00000059699
AA Change: T4S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000059433
Gene: ENSMUSG00000045912
AA Change: T4S

DomainStartEndE-ValueType
low complexity region 75 94 N/A INTRINSIC
low complexity region 174 193 N/A INTRINSIC
C2 319 419 1.19e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168116
Predicted Effect probably benign
Transcript: ENSMUST00000178228
AA Change: T4S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136013
Gene: ENSMUSG00000045912
AA Change: T4S

DomainStartEndE-ValueType
low complexity region 75 94 N/A INTRINSIC
low complexity region 174 193 N/A INTRINSIC
C2 319 419 1.19e-4 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight but normal glucose homeostasis and pancreas development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik A G 15: 12,810,853 (GRCm39) L341P probably damaging Het
Abcd3 A C 3: 121,577,669 (GRCm39) N206K probably damaging Het
Adamtsl1 A G 4: 86,150,847 (GRCm39) D335G probably damaging Het
Ankmy1 A T 1: 92,823,816 (GRCm39) M150K probably damaging Het
Ap3b2 T C 7: 81,115,446 (GRCm39) D680G probably benign Het
Asxl3 T A 18: 22,657,402 (GRCm39) V1804D probably damaging Het
Bace2 T C 16: 97,216,340 (GRCm39) V311A probably damaging Het
C2cd6 T C 1: 59,090,389 (GRCm39) Y456C probably damaging Het
Cbr1 A G 16: 93,406,712 (GRCm39) S143G probably benign Het
Ccdc191 A G 16: 43,780,462 (GRCm39) T815A probably benign Het
Cenpf T A 1: 189,386,979 (GRCm39) Q1767L probably damaging Het
Col6a5 A C 9: 105,814,085 (GRCm39) N642K unknown Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Ephb1 A T 9: 101,918,291 (GRCm39) I406N possibly damaging Het
F13a1 A G 13: 37,127,868 (GRCm39) V370A possibly damaging Het
Gm14403 A T 2: 177,201,257 (GRCm39) H401L probably damaging Het
Gp6 T G 7: 4,387,997 (GRCm39) R157S probably benign Het
Gucy2e G A 11: 69,122,833 (GRCm39) T514I probably benign Het
H2ac1 T C 13: 24,118,608 (GRCm39) V55A probably damaging Het
Mok A G 12: 110,794,499 (GRCm39) I63T probably damaging Het
Otop1 T C 5: 38,445,349 (GRCm39) V169A probably damaging Het
Pdzph1 T A 17: 59,187,642 (GRCm39) T1193S probably damaging Het
Plekha7 A G 7: 115,756,809 (GRCm39) probably benign Het
Plekhm1 A T 11: 103,264,920 (GRCm39) probably benign Het
Prex1 A G 2: 166,435,787 (GRCm39) Y587H probably damaging Het
Scaf1 C A 7: 44,661,542 (GRCm39) probably benign Het
Sema3f A T 9: 107,561,183 (GRCm39) F601Y probably benign Het
Shoc2 T C 19: 53,976,452 (GRCm39) I114T probably benign Het
Skint10 T A 4: 112,622,227 (GRCm39) probably benign Het
Slc18b1 T C 10: 23,686,850 (GRCm39) probably benign Het
Slco5a1 A G 1: 13,059,860 (GRCm39) L287P probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Syncrip G T 9: 88,338,457 (GRCm39) R536S probably benign Het
Trim5 C A 7: 103,915,425 (GRCm39) R296L probably damaging Het
Vmn2r60 G T 7: 41,791,720 (GRCm39) E548* probably null Het
Wdr26 A T 1: 181,026,463 (GRCm39) W251R probably damaging Het
Other mutations in C2cd4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02950:C2cd4c APN 10 79,448,665 (GRCm39) missense probably damaging 1.00
R0400:C2cd4c UTSW 10 79,449,043 (GRCm39) missense probably damaging 1.00
R0925:C2cd4c UTSW 10 79,448,584 (GRCm39) missense probably benign
R1428:C2cd4c UTSW 10 79,448,064 (GRCm39) missense probably damaging 0.97
R2017:C2cd4c UTSW 10 79,448,823 (GRCm39) missense possibly damaging 0.69
R2111:C2cd4c UTSW 10 79,448,255 (GRCm39) missense probably damaging 1.00
R4951:C2cd4c UTSW 10 79,448,839 (GRCm39) missense possibly damaging 0.93
R4982:C2cd4c UTSW 10 79,449,075 (GRCm39) missense probably benign 0.01
R5006:C2cd4c UTSW 10 79,448,341 (GRCm39) missense probably benign 0.12
R5281:C2cd4c UTSW 10 79,448,878 (GRCm39) missense probably benign 0.00
R5699:C2cd4c UTSW 10 79,448,385 (GRCm39) missense probably benign 0.00
R5870:C2cd4c UTSW 10 79,448,043 (GRCm39) missense possibly damaging 0.93
R8221:C2cd4c UTSW 10 79,448,482 (GRCm39) missense probably damaging 1.00
R9753:C2cd4c UTSW 10 79,448,067 (GRCm39) missense probably damaging 1.00
Z1176:C2cd4c UTSW 10 79,448,299 (GRCm39) missense possibly damaging 0.73
Posted On 2015-04-16