Incidental Mutation 'R2867:Efhc2'
ID 266412
Institutional Source Beutler Lab
Gene Symbol Efhc2
Ensembl Gene ENSMUSG00000025038
Gene Name EF-hand domain (C-terminal) containing 2
Synonyms mRib72-2, 4933407D04Rik
MMRRC Submission 040456-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # R2867 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 16998288-17185607 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 17027484 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026014]
AlphaFold Q9D485
Predicted Effect probably benign
Transcript: ENSMUST00000026014
SMART Domains Protein: ENSMUSP00000026014
Gene: ENSMUSG00000025038

DomainStartEndE-ValueType
DM10 75 182 2.04e-51 SMART
DM10 226 368 6.9e-49 SMART
DM10 430 537 2.52e-42 SMART
SCOP:d2mysb_ 560 693 9e-5 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (30/31)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss2 T C 1: 177,595,378 (GRCm39) probably null Het
Arid3c T C 4: 41,725,958 (GRCm39) D215G probably damaging Het
Birc2 A C 9: 7,834,478 (GRCm39) M1R probably null Het
Caprin2 G A 6: 148,747,738 (GRCm39) silent Het
Cog4 C A 8: 111,593,291 (GRCm39) probably benign Het
Cpz T C 5: 35,659,705 (GRCm39) K647E probably benign Het
Ctnna2 T C 6: 77,091,905 (GRCm39) probably benign Het
Cyp7a1 T C 4: 6,272,493 (GRCm39) E240G probably damaging Het
Dnaaf11 A T 15: 66,310,257 (GRCm39) L337* probably null Het
Epha6 T C 16: 59,780,659 (GRCm39) probably null Het
Evc T A 5: 37,473,619 (GRCm39) probably benign Het
Fbf1 A G 11: 116,052,274 (GRCm39) probably benign Het
Grin2b A G 6: 135,710,637 (GRCm39) F970L probably damaging Het
Gtf3c4 A G 2: 28,729,916 (GRCm39) probably benign Het
Kcnma1 A T 14: 23,423,275 (GRCm39) N682K probably benign Het
Kif20b A G 19: 34,917,528 (GRCm39) E631G probably damaging Het
Lctl T C 9: 64,045,150 (GRCm39) S550P probably benign Het
Mapk10 C T 5: 103,186,548 (GRCm39) D25N probably benign Het
Mgst2 A G 3: 51,571,954 (GRCm39) silent Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
N4bp1 T C 8: 87,588,033 (GRCm39) N302D probably benign Het
Pcdh7 A T 5: 57,879,236 (GRCm39) K930N probably damaging Het
Pramel16 T A 4: 143,675,456 (GRCm39) I457L probably benign Het
Proca1 A T 11: 78,095,806 (GRCm39) N146I probably damaging Het
RP23-211L5.9 T C 6: 68,872,634 (GRCm39) probably null Het
Ryr2 A T 13: 11,776,235 (GRCm39) W1101R probably damaging Het
Slc35d3 T C 10: 19,725,209 (GRCm39) T216A probably benign Het
Terb1 C T 8: 105,174,485 (GRCm39) probably benign Het
Thnsl2 C A 6: 71,108,945 (GRCm39) D289Y probably damaging Het
Tigd4 A G 3: 84,501,259 (GRCm39) N59D possibly damaging Het
Togaram2 T C 17: 72,016,592 (GRCm39) S649P probably benign Het
Tradd G T 8: 105,986,145 (GRCm39) F182L probably benign Het
Trav17 A T 14: 54,044,383 (GRCm39) Y50F probably benign Het
Usp37 A T 1: 74,489,691 (GRCm39) D808E probably damaging Het
Usp42 G A 5: 143,701,219 (GRCm39) P935S possibly damaging Het
Vmn2r23 A G 6: 123,690,123 (GRCm39) D333G possibly damaging Het
Zfpm2 C T 15: 40,962,785 (GRCm39) A149V probably benign Het
Other mutations in Efhc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Efhc2 APN X 17,073,934 (GRCm39) missense probably benign 0.04
IGL01317:Efhc2 APN X 17,071,198 (GRCm39) splice site probably benign
IGL02215:Efhc2 APN X 17,096,817 (GRCm39) missense probably damaging 1.00
IGL02958:Efhc2 APN X 17,027,485 (GRCm39) splice site probably benign
R4052:Efhc2 UTSW X 17,096,789 (GRCm39) missense possibly damaging 0.94
R4207:Efhc2 UTSW X 17,096,789 (GRCm39) missense possibly damaging 0.94
R4208:Efhc2 UTSW X 17,096,789 (GRCm39) missense possibly damaging 0.94
X0063:Efhc2 UTSW X 17,029,059 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCTTAGGAACCCATGTTTATGTATAC -3'
(R):5'- CCATTCCAATGCCAGCTTTG -3'

Sequencing Primer
(F):5'- GGCTATCAATGGTATGATCA -3'
(R):5'- GCCAGCTTTGATACTTTCATTTTAGG -3'
Posted On 2015-02-18