Incidental Mutation 'R0925:C2cd4c'
ID 83156
Institutional Source Beutler Lab
Gene Symbol C2cd4c
Ensembl Gene ENSMUSG00000045912
Gene Name C2 calcium-dependent domain containing 4C
Synonyms 4932409I22Rik, LOC237397, Fam148c
MMRRC Submission 039072-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.304) question?
Stock # R0925 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 79442688-79449859 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79448584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 188 (N188D)
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: N188D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000059433
Gene: ENSMUSG00000045912
AA Change: N188D

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 probably benign
Transcript: ENSMUST00000178228
AA Change: N188D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136013
Gene: ENSMUSG00000045912
AA Change: N188D

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
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.7%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T C 8: 44,079,340 (GRCm39) I295V probably benign Het
Adam5 T C 8: 25,302,441 (GRCm39) Q101R probably benign Het
Cdc27 A G 11: 104,416,875 (GRCm39) probably null Het
Cdh11 T A 8: 103,361,356 (GRCm39) I661L probably damaging Het
Cimip1 T A 2: 173,367,867 (GRCm39) S47T probably benign Het
Csmd1 A G 8: 16,760,634 (GRCm39) I167T probably benign Het
Dennd3 T G 15: 73,405,284 (GRCm39) F346V probably damaging Het
Dis3l A T 9: 64,248,412 (GRCm39) M1K probably null Het
Dnajb6 A T 5: 29,957,398 (GRCm39) K60I probably damaging Het
Dock10 T A 1: 80,514,657 (GRCm39) H1421L probably benign Het
Elmod3 A T 6: 72,545,921 (GRCm39) C274S probably damaging Het
Eme1 T C 11: 94,541,558 (GRCm39) E88G probably damaging Het
Fam227a A T 15: 79,505,006 (GRCm39) M475K probably benign Het
Frem2 T C 3: 53,561,394 (GRCm39) I1038V probably benign Het
Gabpb1 T A 2: 126,494,185 (GRCm39) N147Y probably damaging Het
Gmnc A G 16: 26,779,173 (GRCm39) L278P probably benign Het
Gpr153 A G 4: 152,366,331 (GRCm39) T299A probably benign Het
H2-M11 T C 17: 36,858,353 (GRCm39) V49A probably benign Het
Hemgn T A 4: 46,397,049 (GRCm39) K62N probably damaging Het
Hormad2 G A 11: 4,377,297 (GRCm39) T47M probably damaging Het
Iqcf6 A G 9: 106,504,500 (GRCm39) T55A probably benign Het
Itgam T C 7: 127,711,410 (GRCm39) F705L probably benign Het
Klk1 T A 7: 43,878,240 (GRCm39) probably null Het
Myo1f A T 17: 33,797,107 (GRCm39) I123F probably damaging Het
Nup58 T C 14: 60,457,590 (GRCm39) T538A probably damaging Het
Or52j3 T A 7: 102,836,030 (GRCm39) L74* probably null Het
Or5p81 C T 7: 108,267,400 (GRCm39) T259I probably benign Het
Pdzd2 C T 15: 12,399,356 (GRCm39) R790H probably damaging Het
Pigv T C 4: 133,389,960 (GRCm39) K74R probably benign Het
Prmt8 T C 6: 127,674,776 (GRCm39) K284R probably benign Het
Rsl1d1 A T 16: 11,017,553 (GRCm39) Y138N probably damaging Het
Scara5 AC ACC 14: 66,000,167 (GRCm39) probably benign Het
Smc4 T A 3: 68,913,548 (GRCm39) probably benign Het
Spta1 G A 1: 174,001,992 (GRCm39) V41I possibly damaging Het
Tdrd7 C A 4: 46,025,758 (GRCm39) N859K probably damaging Het
Vps13d T G 4: 144,883,121 (GRCm39) D824A probably damaging Het
Wdfy2 A T 14: 63,167,675 (GRCm39) probably null Het
Other mutations in C2cd4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02660:C2cd4c APN 10 79,449,136 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AAGCCCTTGAGCAGCGATACAGAG -3'
(R):5'- AGGCAGCCACACGACATGTGATTC -3'

Sequencing Primer
(F):5'- CAGCGATACAGAGCGAGAC -3'
(R):5'- acagccgaggaagccac -3'
Posted On 2013-11-08