Incidental Mutation 'R7264:C2cd2'
ID 564836
Institutional Source Beutler Lab
Gene Symbol C2cd2
Ensembl Gene ENSMUSG00000045975
Gene Name C2 calcium-dependent domain containing 2
Synonyms 5830404H04Rik, ORF25
MMRRC Submission 045354-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7264 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 97656409-97727248 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 97677419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170757]
AlphaFold E9Q3C1
Predicted Effect probably null
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 probably null
Transcript: ENSMUST00000231903
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora3 C A 3: 105,812,141 (GRCm39) T9K probably benign Het
Ankib1 T A 5: 3,805,739 (GRCm39) N176I probably damaging Het
Ankle2 G A 5: 110,385,689 (GRCm39) G346D probably damaging Het
Anks1b T A 10: 90,348,732 (GRCm39) M800K probably benign Het
Arhgef16 C T 4: 154,365,387 (GRCm39) G576D probably damaging Het
Cacna1c T C 6: 118,579,156 (GRCm39) N1847S Het
Camta1 A G 4: 151,537,856 (GRCm39) I108T probably damaging Het
Catsper4 TTCTC TTC 4: 133,954,423 (GRCm39) probably null Het
Cep192 A G 18: 67,953,426 (GRCm39) Y481C probably damaging Het
Cep250 A G 2: 155,821,071 (GRCm39) E887G probably damaging Het
Clcn1 C A 6: 42,275,772 (GRCm39) A298D probably damaging Het
Col11a1 A G 3: 113,979,248 (GRCm39) N1305S unknown Het
Depdc5 T C 5: 33,125,089 (GRCm39) V1155A probably benign Het
Dnah1 A T 14: 30,991,851 (GRCm39) D3050E probably benign Het
Dnah7a T C 1: 53,557,973 (GRCm39) D2147G probably benign Het
Fbxl4 T C 4: 22,386,145 (GRCm39) Y251H possibly damaging Het
Gm19410 A G 8: 36,252,920 (GRCm39) M622V probably benign Het
Gm3402 T A 5: 146,451,472 (GRCm39) M110K probably damaging Het
Gm8257 T A 14: 44,893,817 (GRCm39) E82D probably damaging Het
Gne T A 4: 44,042,175 (GRCm39) I498F probably damaging Het
Grep1 A G 17: 23,931,308 (GRCm39) S200P not run Het
Gstcd C T 3: 132,790,540 (GRCm39) V76I probably benign Het
Hgs G T 11: 120,365,139 (GRCm39) V176L probably benign Het
Hrob T A 11: 102,146,422 (GRCm39) C233S probably benign Het
Igbp1b T C 6: 138,635,108 (GRCm39) N112S possibly damaging Het
Itga11 A T 9: 62,653,190 (GRCm39) T355S probably benign Het
Lama1 A T 17: 68,050,292 (GRCm39) H301L Het
Lhx9 T C 1: 138,760,489 (GRCm39) D296G probably damaging Het
Lrp1 C T 10: 127,427,962 (GRCm39) G537D probably damaging Het
Mroh2b A G 15: 4,950,844 (GRCm39) I581V possibly damaging Het
Mrps36 A G 13: 100,875,707 (GRCm39) S36P probably benign Het
Or52z13 T A 7: 103,246,955 (GRCm39) I144N probably damaging Het
Plcb4 A T 2: 135,807,000 (GRCm39) N547I probably benign Het
Plch2 T A 4: 155,083,424 (GRCm39) M505L probably damaging Het
Prg4 T A 1: 150,329,818 (GRCm39) N154Y not run Het
Rev1 A T 1: 38,124,682 (GRCm39) V420D probably damaging Het
Rin3 A G 12: 102,356,374 (GRCm39) I972V probably benign Het
Rtel1 T C 2: 180,993,654 (GRCm39) L775P not run Het
Scarf2 G T 16: 17,621,154 (GRCm39) C274F possibly damaging Het
Serinc2 C T 4: 130,152,052 (GRCm39) V271I probably benign Het
Slpi C A 2: 164,198,322 (GRCm39) probably benign Het
Spopfm1 C T 3: 94,173,045 (GRCm39) H14Y possibly damaging Het
Stxbp6 T C 12: 44,948,782 (GRCm39) D109G probably damaging Het
Tmem74 G A 15: 43,730,864 (GRCm39) L60F probably benign Het
Trhde C T 10: 114,636,776 (GRCm39) G144S possibly damaging Het
Trrap T C 5: 144,751,333 (GRCm39) S1610P probably benign Het
Ttc33 C T 15: 5,246,718 (GRCm39) Q175* probably null Het
Usp34 A G 11: 23,283,566 (GRCm39) T106A probably benign Het
Vmn1r204 A G 13: 22,741,167 (GRCm39) D266G probably benign Het
Wdfy3 C A 5: 102,003,389 (GRCm39) A2905S probably benign Het
Wfs1 A G 5: 37,125,190 (GRCm39) L567P probably damaging Het
Zfp42 T C 8: 43,749,312 (GRCm39) E63G probably damaging Het
Zfp957 A G 14: 79,451,080 (GRCm39) F240L probably damaging Het
Zgrf1 A T 3: 127,357,218 (GRCm39) M815L probably benign 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
IGL02086:C2cd2 APN 16 97,691,208 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GCTGGAAGAACCTCATCTCTGTC -3'
(R):5'- TCTTACGTAGAACCTGGGGAG -3'

Sequencing Primer
(F):5'- GAAGAACCTCATCTCTGTCTCTTAAC -3'
(R):5'- ACCTGGGGAGCTGAAATCCTG -3'
Posted On 2019-06-26