Incidental Mutation 'R6312:C2cd4d'
ID 509799
Institutional Source Beutler Lab
Gene Symbol C2cd4d
Ensembl Gene ENSMUSG00000091648
Gene Name C2 calcium-dependent domain containing 4D
Synonyms Gm659, LOC271944
MMRRC Submission 044415-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R6312 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 94269745-94271873 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 94271742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 336 (P336H)
Ref Sequence ENSEMBL: ENSMUSP00000128182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169433]
AlphaFold P0CG09
Predicted Effect probably damaging
Transcript: ENSMUST00000169433
AA Change: P336H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128182
Gene: ENSMUSG00000091648
AA Change: P336H

DomainStartEndE-ValueType
Blast:C2 37 81 3e-6 BLAST
low complexity region 109 120 N/A INTRINSIC
low complexity region 136 149 N/A INTRINSIC
low complexity region 200 211 N/A INTRINSIC
C2 221 329 1.01e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197526
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200467
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,936,541 (GRCm39) S472P possibly damaging Het
Aadacl4fm1 A T 4: 144,255,072 (GRCm39) H164L probably benign Het
Abraxas2 G A 7: 132,476,694 (GRCm39) A145T probably damaging Het
AC153874.1 T A 10: 77,682,961 (GRCm39) probably benign Het
Acadvl T A 11: 69,902,593 (GRCm39) M375L probably damaging Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Arl4d T C 11: 101,558,079 (GRCm39) *202R probably null Het
B3gat2 G T 1: 23,854,548 (GRCm39) E83* probably null Het
Bmper C A 9: 23,318,087 (GRCm39) Q569K possibly damaging Het
Cct2 A T 10: 116,891,960 (GRCm39) S363T probably benign Het
Cers5 A G 15: 99,644,996 (GRCm39) V119A probably benign Het
Cfhr2 C T 1: 139,758,817 (GRCm39) V78I possibly damaging Het
Crocc2 A T 1: 93,143,432 (GRCm39) K1345* probably null Het
Cyp4f39 T C 17: 32,702,268 (GRCm39) M255T probably benign Het
Dpp6 A T 5: 27,930,669 (GRCm39) I834F possibly damaging Het
Dpy19l4 T A 4: 11,289,671 (GRCm39) K205* probably null Het
Epg5 T A 18: 78,022,426 (GRCm39) D1056E possibly damaging Het
Fam20a A C 11: 109,565,456 (GRCm39) C452G probably damaging Het
Gnai2 A T 9: 107,512,316 (GRCm39) V34E probably damaging Het
Gng3 A G 19: 8,815,997 (GRCm39) V7A probably benign Het
Hdc A G 2: 126,449,326 (GRCm39) V77A possibly damaging Het
Hint1 G A 11: 54,760,816 (GRCm39) C85Y probably benign Het
Kif17 C T 4: 138,015,504 (GRCm39) S551L probably benign Het
Lgr5 A G 10: 115,288,829 (GRCm39) L581P probably damaging Het
Lig4 G T 8: 10,021,739 (GRCm39) N680K probably benign Het
Lipi T A 16: 75,370,803 (GRCm39) Y138F probably damaging Het
Lrp2 C T 2: 69,267,025 (GRCm39) G4294E probably damaging Het
Lrrc7 A G 3: 157,866,246 (GRCm39) M1165T probably benign Het
Mtpap T C 18: 4,396,175 (GRCm39) I489T possibly damaging Het
Nlrp1b T A 11: 71,119,223 (GRCm39) N24I probably benign Het
Nlrp4a A G 7: 26,148,821 (GRCm39) T143A probably benign Het
Nudt2 A G 4: 41,480,386 (GRCm39) T90A probably benign Het
Or1j20 A T 2: 36,760,477 (GRCm39) I300L probably benign Het
Or52n20 T A 7: 104,320,796 (GRCm39) Y296N probably damaging Het
Or8b36 GTTT GTTTGCTGTTTT 9: 37,937,842 (GRCm39) probably null Het
Or8b36 TTT TTTGCTGATT 9: 37,937,843 (GRCm39) probably null Het
Or8b36 T TGCTGTTC 9: 37,937,845 (GRCm39) probably null Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or8b36 TTGCTGT TTGCTGTCTGCTGT 9: 37,937,837 (GRCm39) probably null Het
Or8k53 A T 2: 86,177,925 (GRCm39) F62I probably damaging Het
Osmr A G 15: 6,853,119 (GRCm39) V592A probably damaging Het
Rbp2 G T 9: 98,372,700 (GRCm39) S13I probably benign Het
Rsf1 A AGGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Rusf1 T C 7: 127,872,715 (GRCm39) K411R probably benign Het
Slc6a7 A G 18: 61,135,457 (GRCm39) S381P probably benign Het
Slitrk6 A G 14: 110,987,679 (GRCm39) L676P probably benign Het
Sspo T C 6: 48,434,300 (GRCm39) probably null Het
Tectb CT C 19: 55,181,094 (GRCm39) probably null Homo
Tma16 T C 8: 66,934,118 (GRCm39) E79G probably damaging Het
Trim14 G T 4: 46,507,257 (GRCm39) H320N probably damaging Het
Trim63 A G 4: 134,053,008 (GRCm39) D323G probably damaging Het
Vash2 C A 1: 190,690,880 (GRCm39) R309L probably benign Het
Vmn1r62 G A 7: 5,679,083 (GRCm39) V255M possibly damaging Het
Vmn2r53 T A 7: 12,332,566 (GRCm39) probably null Het
Zfp382 G A 7: 29,833,963 (GRCm39) R538H probably damaging Het
Zfp592 T A 7: 80,673,184 (GRCm39) D49E probably benign Het
Zfp60 T C 7: 27,448,201 (GRCm39) C290R probably damaging Het
Zfp69 G A 4: 120,806,714 (GRCm39) probably benign Het
Zfp790 G T 7: 29,527,647 (GRCm39) G111W probably damaging Het
Zfp948 T C 17: 21,807,429 (GRCm39) I207T possibly damaging Het
Other mutations in C2cd4d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01146:C2cd4d APN 3 94,271,770 (GRCm39) utr 3 prime probably benign
R2090:C2cd4d UTSW 3 94,271,321 (GRCm39) missense probably benign 0.10
R2122:C2cd4d UTSW 3 94,270,925 (GRCm39) nonsense probably null
R4072:C2cd4d UTSW 3 94,271,185 (GRCm39) nonsense probably null
R4454:C2cd4d UTSW 3 94,271,054 (GRCm39) missense probably damaging 1.00
R6077:C2cd4d UTSW 3 94,271,615 (GRCm39) missense probably damaging 1.00
R6190:C2cd4d UTSW 3 94,271,226 (GRCm39) missense probably benign 0.00
R6973:C2cd4d UTSW 3 94,271,130 (GRCm39) missense probably damaging 0.96
R7007:C2cd4d UTSW 3 94,271,378 (GRCm39) missense probably benign 0.45
R7057:C2cd4d UTSW 3 94,270,800 (GRCm39) missense probably benign 0.00
R7278:C2cd4d UTSW 3 94,271,445 (GRCm39) missense probably benign 0.00
R7430:C2cd4d UTSW 3 94,271,657 (GRCm39) missense possibly damaging 0.94
R7912:C2cd4d UTSW 3 94,270,860 (GRCm39) missense probably damaging 0.98
R8363:C2cd4d UTSW 3 94,271,157 (GRCm39) missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- AGCTGCAACCCTATCTTCAACG -3'
(R):5'- ACTGCTTAAGGAAGGGCTGG -3'

Sequencing Primer
(F):5'- AGACTTCTTCTTCGAGGG -3'
(R):5'- AGACTTGCTGCAAAGCCTAG -3'
Posted On 2018-04-02