Incidental Mutation 'R6077:C2cd4d'
ID 482779
Institutional Source Beutler Lab
Gene Symbol C2cd4d
Ensembl Gene ENSMUSG00000091648
Gene Name C2 calcium-dependent domain containing 4D
Synonyms Gm659, LOC271944
MMRRC Submission 044238-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R6077 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 94269745-94271873 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94271615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 294 (R294W)
Ref Sequence ENSEMBL: ENSMUSP00000128182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169433]
AlphaFold P0CG09
Predicted Effect probably damaging
Transcript: ENSMUST00000169433
AA Change: R294W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128182
Gene: ENSMUSG00000091648
AA Change: R294W

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly C T 11: 100,410,583 (GRCm39) V132I probably benign Het
Adgrb3 A T 1: 25,133,081 (GRCm39) L1335* probably null Het
Adgre5 A G 8: 84,454,595 (GRCm39) S301P probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Aldh1b1 A G 4: 45,802,525 (GRCm39) Y21C possibly damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Ankrd7 T A 6: 18,868,071 (GRCm39) S112R probably benign Het
Arhgap23 T A 11: 97,382,058 (GRCm39) probably null Het
Atp4a G A 7: 30,415,344 (GRCm39) M321I probably benign Het
Carns1 T C 19: 4,220,875 (GRCm39) I352V probably benign Het
Cdh17 T A 4: 11,803,969 (GRCm39) S547R probably benign Het
Cdyl2 G T 8: 117,316,129 (GRCm39) N286K probably damaging Het
Fam186a C A 15: 99,840,584 (GRCm39) V1887L possibly damaging Het
Fat4 C T 3: 39,056,951 (GRCm39) R4216C probably damaging Het
Fcamr T C 1: 130,740,663 (GRCm39) W361R probably damaging Het
Helz2 G A 2: 180,874,831 (GRCm39) P1888S probably benign Het
Itih1 A T 14: 30,651,833 (GRCm39) F840L possibly damaging Het
Kansl2 T C 15: 98,429,312 (GRCm39) D146G probably benign Het
Kcnk18 T C 19: 59,223,746 (GRCm39) V297A probably damaging Het
Kif1a T C 1: 92,982,618 (GRCm39) T720A possibly damaging Het
Kl C G 5: 150,876,466 (GRCm39) F95L probably damaging Het
Large2 C T 2: 92,196,915 (GRCm39) R423K probably benign Het
Lgals3bp A G 11: 118,290,568 (GRCm39) V13A probably damaging Het
Lrrd1 A G 5: 3,900,837 (GRCm39) I381V probably benign Het
Mastl A T 2: 23,045,806 (GRCm39) I23N probably damaging Het
Mettl23 T C 11: 116,739,728 (GRCm39) V1A possibly damaging Het
Mindy2 A G 9: 70,538,363 (GRCm39) V324A probably damaging Het
Mtmr4 T A 11: 87,501,845 (GRCm39) L633Q probably damaging Het
Myh1 G A 11: 67,102,273 (GRCm39) E855K probably damaging Het
Nin C T 12: 70,066,006 (GRCm39) A2026T probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Or2w1 A T 13: 21,317,463 (GRCm39) I173F probably benign Het
Otulin T C 15: 27,611,696 (GRCm39) T166A probably benign Het
P2ry14 T A 3: 59,022,798 (GRCm39) R230W probably damaging Het
Pcsk4 T C 10: 80,162,073 (GRCm39) E83G probably damaging Het
Raet1e C A 10: 22,057,887 (GRCm39) T218N possibly damaging Het
Rsf1 GCGGCGGC GCGGCGGCGTCGGCGGC 7: 97,229,135 (GRCm39) probably benign Het
Safb G A 17: 56,909,956 (GRCm39) probably benign Het
Scn7a T A 2: 66,527,940 (GRCm39) N850I probably damaging Het
Slc16a4 A G 3: 107,208,381 (GRCm39) D297G possibly damaging Het
Tcf7l2 A T 19: 55,905,868 (GRCm39) K278* probably null Het
Tesmin T C 19: 3,439,260 (GRCm39) V104A possibly damaging Het
Tiam1 A G 16: 89,594,918 (GRCm39) probably null Het
Tmc4 T C 7: 3,670,526 (GRCm39) T522A probably damaging Het
Tmprss3 T A 17: 31,408,141 (GRCm39) I274F possibly damaging Het
Topbp1 A G 9: 103,210,189 (GRCm39) K916E probably damaging Het
Trdv1 A G 14: 54,119,513 (GRCm39) D58G probably benign Het
Ube2g2 G T 10: 77,458,139 (GRCm39) probably benign Het
Unc5d G T 8: 29,165,335 (GRCm39) Q747K possibly damaging Het
Xpo6 A G 7: 125,709,124 (GRCm39) V819A possibly damaging Het
Zan T A 5: 137,412,559 (GRCm39) probably benign Het
Zfp317 T A 9: 19,558,184 (GRCm39) W133R probably benign 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
R6190:C2cd4d UTSW 3 94,271,226 (GRCm39) missense probably benign 0.00
R6312:C2cd4d UTSW 3 94,271,742 (GRCm39) missense probably damaging 0.99
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'- GGACTTCCTCTGCTGCCAAC -3'
(R):5'- TCCCAAGAAAGCTGTGGTG -3'

Sequencing Primer
(F):5'- TGTCCACCGAGTACCAGG -3'
(R):5'- CCCAAGAAAGCTGTGGTGTCTATC -3'
Posted On 2017-07-14