Incidental Mutation 'R0032:Enkur'
ID 15406
Institutional Source Beutler Lab
Gene Symbol Enkur
Ensembl Gene ENSMUSG00000026679
Gene Name enkurin, TRPC channel interacting protein
Synonyms 4933434I06Rik
MMRRC Submission 038326-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R0032 (G1) of strain 731
Quality Score
Status Validated
Chromosome 2
Chromosomal Location 21185542-21210176 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21194115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 153 (I153V)
Ref Sequence ENSEMBL: ENSMUSP00000027992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027992]
AlphaFold Q6SP97
Predicted Effect probably benign
Transcript: ENSMUST00000027992
AA Change: I153V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027992
Gene: ENSMUSG00000026679
AA Change: I153V

DomainStartEndE-ValueType
Pfam:Enkurin 152 248 6.3e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147793
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 80.9%
  • 3x: 73.4%
  • 10x: 52.4%
  • 20x: 32.5%
Validation Efficiency 94% (87/93)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with calmodulin and several transient receptor potential canonical cation channel proteins. The encoded protein may function as an adaptor to localize signal transduction machinery to calcium channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
PHENOTYPE: Some mice homozygous for a knock-out allele exhibit situs invertus or ambiguus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T A 10: 106,959,156 (GRCm39) T97S probably benign Het
Adcy1 T C 11: 7,094,729 (GRCm39) S552P possibly damaging Het
C2cd3 T A 7: 100,093,652 (GRCm39) probably benign Het
Cd86 A T 16: 36,441,235 (GRCm39) S77R probably damaging Het
Cfap54 C T 10: 92,768,559 (GRCm39) R188H probably benign Het
Cpne8 T A 15: 90,453,771 (GRCm39) probably benign Het
Ctsg T A 14: 56,339,196 (GRCm39) I21F probably damaging Het
Cyp2j9 T G 4: 96,457,043 (GRCm39) N476T possibly damaging Het
Dcaf4 G A 12: 83,582,762 (GRCm39) probably benign Het
Dennd4c T C 4: 86,746,387 (GRCm39) probably null Het
Dicer1 A T 12: 104,671,057 (GRCm39) L995* probably null Het
Dnah10 A G 5: 124,877,955 (GRCm39) K2623R possibly damaging Het
Dnajc21 G T 15: 10,461,963 (GRCm39) T146K probably benign Het
Dnmbp A C 19: 43,891,158 (GRCm39) L203R probably damaging Het
Eif4g1 C T 16: 20,504,648 (GRCm39) S829F probably damaging Het
Erf T C 7: 24,944,500 (GRCm39) Y277C possibly damaging Het
Fcsk G A 8: 111,618,735 (GRCm39) T341M possibly damaging Het
Fstl5 T A 3: 76,555,742 (GRCm39) probably benign Het
Grm3 A G 5: 9,561,452 (GRCm39) probably null Het
Il11ra1 A G 4: 41,768,187 (GRCm39) E366G probably damaging Het
Ipo8 A G 6: 148,712,209 (GRCm39) C261R probably damaging Het
Itga11 T C 9: 62,681,377 (GRCm39) F998L probably benign Het
Krt74 T A 15: 101,669,887 (GRCm39) noncoding transcript Het
Me2 T G 18: 73,927,596 (GRCm39) M219L probably benign Het
Mlh3 A G 12: 85,292,523 (GRCm39) probably benign Het
Nfx1 T A 4: 41,015,321 (GRCm39) V842E probably benign Het
Oma1 T A 4: 103,223,209 (GRCm39) S465T possibly damaging Het
Opa1 A T 16: 29,433,887 (GRCm39) H574L probably damaging Het
Pcsk5 T C 19: 17,542,179 (GRCm39) N804S possibly damaging Het
Pde4a C A 9: 21,112,728 (GRCm39) probably benign Het
Pilra T A 5: 137,829,527 (GRCm39) D179V probably damaging Het
Piwil1 G A 5: 128,820,344 (GRCm39) S247N probably benign Het
Prss58 T G 6: 40,872,633 (GRCm39) T158P probably benign Het
Slc35e3 T C 10: 117,580,837 (GRCm39) M156V probably benign Het
Slit2 G A 5: 48,414,198 (GRCm39) R938Q probably damaging Het
Syt8 T C 7: 141,992,926 (GRCm39) V152A probably benign Het
Tppp2 G T 14: 52,156,866 (GRCm39) R81L possibly damaging Het
Trpc3 A G 3: 36,698,405 (GRCm39) I618T probably damaging Het
Zc3h4 T A 7: 16,168,565 (GRCm39) D891E unknown Het
Zfp120 A T 2: 149,959,512 (GRCm39) V270E possibly damaging Het
Other mutations in Enkur
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Enkur APN 2 21,194,042 (GRCm39) missense probably benign 0.01
IGL01475:Enkur APN 2 21,201,530 (GRCm39) missense probably damaging 0.96
IGL02642:Enkur APN 2 21,199,198 (GRCm39) missense probably benign 0.00
R0032:Enkur UTSW 2 21,194,115 (GRCm39) missense probably benign
R1737:Enkur UTSW 2 21,199,106 (GRCm39) missense probably damaging 1.00
R1851:Enkur UTSW 2 21,193,988 (GRCm39) missense probably benign 0.10
R2221:Enkur UTSW 2 21,194,130 (GRCm39) splice site probably benign
R5483:Enkur UTSW 2 21,199,109 (GRCm39) missense probably benign
R7577:Enkur UTSW 2 21,209,913 (GRCm39) missense probably benign 0.00
R8906:Enkur UTSW 2 21,201,568 (GRCm39) missense probably benign
R9134:Enkur UTSW 2 21,185,779 (GRCm39) missense probably benign
R9472:Enkur UTSW 2 21,201,590 (GRCm39) missense possibly damaging 0.65
X0025:Enkur UTSW 2 21,185,923 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-17