Incidental Mutation 'R4052:Efhc2'
ID 314229
Institutional Source Beutler Lab
Gene Symbol Efhc2
Ensembl Gene ENSMUSG00000025038
Gene Name EF-hand domain (C-terminal) containing 2
Synonyms mRib72-2, 4933407D04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # R4052 ()
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 16998288-17185607 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17096789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 186 (N186S)
Ref Sequence ENSEMBL: ENSMUSP00000026014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026014]
AlphaFold Q9D485
Predicted Effect possibly damaging
Transcript: ENSMUST00000026014
AA Change: N186S

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026014
Gene: ENSMUSG00000025038
AA Change: N186S

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 0.1303 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.5%
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik T G 13: 119,624,738 (GRCm39) probably benign Het
Abca8b G A 11: 109,872,551 (GRCm39) Q17* probably null Het
Abcc6 A C 7: 45,635,987 (GRCm39) L1020R probably damaging Het
Ace2 A G X: 162,952,581 (GRCm39) I110V probably benign Het
Adam29 T C 8: 56,325,317 (GRCm39) Y379C probably damaging Het
Apol10a A T 15: 77,373,185 (GRCm39) I274L probably benign Het
BC005537 T A 13: 24,993,881 (GRCm39) F119I possibly damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cts3 T A 13: 61,716,535 (GRCm39) I34L probably benign Het
Cyp4a30b A G 4: 115,311,539 (GRCm39) D69G probably benign Het
Dclk2 A G 3: 86,738,129 (GRCm39) probably null Het
Dhx30 A G 9: 109,929,889 (GRCm39) V69A possibly damaging Het
Dis3 T G 14: 99,332,752 (GRCm39) I227L probably benign Het
Dock3 A G 9: 106,850,995 (GRCm39) S836P probably damaging Het
Erap1 A G 13: 74,823,459 (GRCm39) N831S probably benign Het
Gimap3 T A 6: 48,743,447 (GRCm39) T3S possibly damaging Het
Gpr82 C T X: 13,531,898 (GRCm39) P149S probably damaging Het
H3f3a C T 1: 180,630,703 (GRCm39) R117H probably benign Het
Hcn2 A C 10: 79,569,521 (GRCm39) probably null Het
Helz2 A G 2: 180,882,268 (GRCm39) L175P probably damaging Het
Il36b T C 2: 24,049,844 (GRCm39) F152L probably damaging Het
Ino80b G C 6: 83,099,314 (GRCm39) P178R probably damaging Het
Ldlrad3 C T 2: 101,783,507 (GRCm39) D240N probably damaging Het
Lef1 A G 3: 130,988,338 (GRCm39) N236D probably damaging Het
Macf1 A G 4: 123,365,810 (GRCm39) S1419P probably benign Het
Me2 T C 18: 73,924,156 (GRCm39) K352R probably benign Het
Ncapd3 T A 9: 27,000,679 (GRCm39) probably null Het
Or52n3 A G 7: 104,530,810 (GRCm39) T299A probably damaging Het
P2rx7 T C 5: 122,804,340 (GRCm39) F293S probably damaging Het
Pabpc1l T C 2: 163,885,533 (GRCm39) W429R probably benign Het
Parp14 T C 16: 35,678,771 (GRCm39) E399G probably benign Het
Pde6h A G 6: 136,936,266 (GRCm39) D3G unknown Het
Pfkfb1 A T X: 149,405,184 (GRCm39) D208V possibly damaging Het
Rasgrp3 T C 17: 75,803,963 (GRCm39) F89L probably damaging Het
Rif1 A T 2: 51,988,483 (GRCm39) K741* probably null Het
Rnase4 A G 14: 51,342,462 (GRCm39) K62R probably benign Het
Rnf207 C A 4: 152,395,894 (GRCm39) Q533H probably benign Het
Slc24a2 A G 4: 87,145,442 (GRCm39) V204A probably damaging Het
Spry2 A T 14: 106,130,635 (GRCm39) C184S probably damaging Het
Sulf2 T C 2: 165,936,510 (GRCm39) Y152C probably damaging Het
Thrap3 G A 4: 126,070,012 (GRCm39) A625V probably damaging Het
Tmem39a T A 16: 38,406,650 (GRCm39) V329D probably damaging Het
Trav7-3 A G 14: 53,681,203 (GRCm39) T82A probably benign Het
Trim30b T A 7: 104,006,685 (GRCm39) Q57L possibly damaging Het
Uggt1 A G 1: 36,203,570 (GRCm39) V1020A probably damaging Het
Zfp941 T G 7: 140,392,340 (GRCm39) K340Q possibly damaging 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
R2867:Efhc2 UTSW X 17,027,484 (GRCm39) splice site probably benign
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'- CTAAATATGCTACAGCTGGAAGGG -3'
(R):5'- ATCAGGCGTCAACGGATTCC -3'

Sequencing Primer
(F):5'- CTACAGCTGGAAGGGAGGATCC -3'
(R):5'- AGGCGTCAACGGATTCCTTACC -3'
Posted On 2015-04-30