Incidental Mutation 'R0925:C2cd4c'
ID83156
Institutional Source Beutler Lab
Gene Symbol C2cd4c
Ensembl Gene ENSMUSG00000045912
Gene NameC2 calcium-dependent domain containing 4C
Synonyms4932409I22Rik, LOC237397, Fam148c
MMRRC Submission 039072-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.465) question?
Stock #R0925 (G1)
Quality Score225
Status Not validated
Chromosome10
Chromosomal Location79606854-79614025 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 79612750 bp
ZygosityHeterozygous
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]
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
1700021F07Rik T A 2: 173,526,074 S47T probably benign Het
Adam5 T C 8: 24,812,425 Q101R probably benign Het
Cdc27 A G 11: 104,526,049 probably null Het
Cdh11 T A 8: 102,634,724 I661L probably damaging Het
Csmd1 A G 8: 16,710,618 I167T probably benign Het
Dennd3 T G 15: 73,533,435 F346V probably damaging Het
Dis3l A T 9: 64,341,130 M1K probably null Het
Dnajb6 A T 5: 29,752,400 K60I probably damaging Het
Dock10 T A 1: 80,536,940 H1421L probably benign Het
Elmod3 A T 6: 72,568,938 C274S probably damaging Het
Eme1 T C 11: 94,650,732 E88G probably damaging Het
Fam227a A T 15: 79,620,805 M475K probably benign Het
Frem2 T C 3: 53,653,973 I1038V probably benign Het
Gabpb1 T A 2: 126,652,265 N147Y probably damaging Het
Gm5346 T C 8: 43,626,303 I295V probably benign Het
Gmnc A G 16: 26,960,423 L278P probably benign Het
Gpr153 A G 4: 152,281,874 T299A probably benign Het
H2-M11 T C 17: 36,547,461 V49A probably benign Het
Hemgn T A 4: 46,397,049 K62N probably damaging Het
Hormad2 G A 11: 4,427,297 T47M probably damaging Het
Iqcf6 A G 9: 106,627,301 T55A probably benign Het
Itgam T C 7: 128,112,238 F705L probably benign Het
Klk1 T A 7: 44,228,816 probably null Het
Myo1f A T 17: 33,578,133 I123F probably damaging Het
Nupl1 T C 14: 60,220,141 T538A probably damaging Het
Olfr510 C T 7: 108,668,193 T259I probably benign Het
Olfr592 T A 7: 103,186,823 L74* probably null Het
Pdzd2 C T 15: 12,399,270 R790H probably damaging Het
Pigv T C 4: 133,662,649 K74R probably benign Het
Prmt8 T C 6: 127,697,813 K284R probably benign Het
Rsl1d1 A T 16: 11,199,689 Y138N probably damaging Het
Scara5 AC ACC 14: 65,762,718 probably benign Het
Smc4 T A 3: 69,006,215 probably benign Het
Spta1 G A 1: 174,174,426 V41I possibly damaging Het
Tdrd7 C A 4: 46,025,758 N859K probably damaging Het
Vps13d T G 4: 145,156,551 D824A probably damaging Het
Wdfy2 A T 14: 62,930,226 probably null Het
Other mutations in C2cd4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02660:C2cd4c APN 10 79613302 missense probably benign
IGL02950:C2cd4c APN 10 79612831 missense probably damaging 1.00
R0400:C2cd4c UTSW 10 79613209 missense probably damaging 1.00
R1428:C2cd4c UTSW 10 79612230 missense probably damaging 0.97
R2017:C2cd4c UTSW 10 79612989 missense possibly damaging 0.69
R2111:C2cd4c UTSW 10 79612421 missense probably damaging 1.00
R4951:C2cd4c UTSW 10 79613005 missense possibly damaging 0.93
R4982:C2cd4c UTSW 10 79613241 missense probably benign 0.01
R5006:C2cd4c UTSW 10 79612507 missense probably benign 0.12
R5281:C2cd4c UTSW 10 79613044 missense probably benign 0.00
R5699:C2cd4c UTSW 10 79612551 missense probably benign 0.00
R5870:C2cd4c UTSW 10 79612209 missense possibly damaging 0.93
R8221:C2cd4c UTSW 10 79612648 missense probably damaging 1.00
Z1176:C2cd4c UTSW 10 79612465 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 On2013-11-08