Incidental Mutation 'R1737:Enkur'
ID 199752
Institutional Source Beutler Lab
Gene Symbol Enkur
Ensembl Gene ENSMUSG00000026679
Gene Name enkurin, TRPC channel interacting protein
Synonyms 4933434I06Rik
MMRRC Submission 039769-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R1737 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 21185542-21210176 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21199106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 143 (P143S)
Ref Sequence ENSEMBL: ENSMUSP00000027992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027992]
AlphaFold Q6SP97
Predicted Effect probably damaging
Transcript: ENSMUST00000027992
AA Change: P143S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027992
Gene: ENSMUSG00000026679
AA Change: P143S

DomainStartEndE-ValueType
Pfam:Enkurin 152 248 6.3e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158951
Meta Mutation Damage Score 0.5137 question?
Coding Region Coverage
  • 1x: 97.6%
  • 3x: 96.9%
  • 10x: 95.1%
  • 20x: 91.4%
Validation Efficiency 100% (75/75)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Ak7 G A 12: 105,708,591 (GRCm39) V349M probably damaging Het
Aldh1a2 A T 9: 71,192,453 (GRCm39) E436V possibly damaging Het
Apc C A 18: 34,450,075 (GRCm39) P2290T probably damaging Het
Atp10a T C 7: 58,476,986 (GRCm39) probably benign Het
Bahd1 T C 2: 118,746,404 (GRCm39) S8P probably damaging Het
BC049715 C T 6: 136,817,306 (GRCm39) P182L probably damaging Het
Capn10 T C 1: 92,862,677 (GRCm39) Y28H probably benign Het
Cdh10 A T 15: 18,964,149 (GRCm39) I104F probably damaging Het
Cep170b A G 12: 112,703,061 (GRCm39) D508G possibly damaging Het
Ces2a G T 8: 105,467,456 (GRCm39) A494S probably damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Cltc G A 11: 86,624,553 (GRCm39) T123M probably damaging Het
Cnot1 A G 8: 96,474,904 (GRCm39) S1102P probably damaging Het
Col12a1 C A 9: 79,610,733 (GRCm39) D224Y probably damaging Het
Col14a1 T A 15: 55,208,357 (GRCm39) probably benign Het
Cyp7a1 T A 4: 6,272,848 (GRCm39) T122S probably benign Het
Dock4 A G 12: 40,857,000 (GRCm39) probably null Het
Eid2 T C 7: 27,967,924 (GRCm39) V182A possibly damaging Het
Eloa A T 4: 135,738,081 (GRCm39) V293D probably benign Het
Ep300 T C 15: 81,510,548 (GRCm39) Y99H probably damaging Het
Fbxw5 C A 2: 25,393,596 (GRCm39) L66I probably benign Het
Flg2 A T 3: 93,110,928 (GRCm39) R985S unknown Het
Fscb A T 12: 64,521,355 (GRCm39) I37K possibly damaging Het
H2-M10.3 T C 17: 36,679,296 (GRCm39) N3S probably benign Het
H2-Q7 A C 17: 35,658,602 (GRCm39) Y80S probably damaging Het
H60c A T 10: 3,209,914 (GRCm39) D124E possibly damaging Het
Hsd3b2 A T 3: 98,618,862 (GRCm39) V361E probably damaging Het
Ice1 A C 13: 70,754,444 (GRCm39) C547W probably damaging Het
Itprid1 A T 6: 55,945,289 (GRCm39) D670V probably damaging Het
Jmy A G 13: 93,635,303 (GRCm39) V171A probably damaging Het
Klf7 C A 1: 64,118,372 (GRCm39) R75L possibly damaging Het
Klk1b1 A T 7: 43,619,783 (GRCm39) Q114L probably benign Het
Krt10 A G 11: 99,278,213 (GRCm39) M280T possibly damaging Het
Lama1 G A 17: 68,109,916 (GRCm39) R2179Q probably benign Het
Mbd3l1 C T 9: 18,396,225 (GRCm39) P117S possibly damaging Het
Med18 A T 4: 132,187,420 (GRCm39) S71R probably damaging Het
Mov10l1 T A 15: 88,895,607 (GRCm39) I643N possibly damaging Het
Nfib T C 4: 82,416,826 (GRCm39) K70E probably damaging Het
Nr3c2 A C 8: 77,634,958 (GRCm39) S20R probably benign Het
Nr6a1 A T 2: 38,628,955 (GRCm39) F356L probably benign Het
Oca2 G A 7: 55,978,533 (GRCm39) R567H probably damaging Het
Or10k2 A G 8: 84,268,045 (GRCm39) S91G probably benign Het
Or1e35 T A 11: 73,797,911 (GRCm39) M136L possibly damaging Het
Or1p1 T C 11: 74,179,637 (GRCm39) L55P probably damaging Het
Or6c88 T A 10: 129,406,697 (GRCm39) Y58N probably damaging Het
Or8g33 T C 9: 39,338,254 (GRCm39) T38A probably damaging Het
Pcdhb10 A G 18: 37,546,009 (GRCm39) T362A probably benign Het
Pip5k1b A T 19: 24,374,404 (GRCm39) V59E probably damaging Het
Pkhd1l1 G A 15: 44,410,905 (GRCm39) probably null Het
Prr36 T C 8: 4,264,370 (GRCm39) probably benign Het
Ptger2 A G 14: 45,239,228 (GRCm39) T289A probably benign Het
Rad18 A G 6: 112,658,498 (GRCm39) F136L probably damaging Het
Rhbg T A 3: 88,153,181 (GRCm39) S258C probably damaging Het
Scgb2b27 T C 7: 33,712,739 (GRCm39) I34M possibly damaging Het
Senp7 C A 16: 55,944,162 (GRCm39) T135K probably damaging Het
Slc20a2 A G 8: 23,035,582 (GRCm39) I193M probably damaging Het
Slc27a1 G A 8: 72,023,504 (GRCm39) V47I probably benign Het
Slc9a5 G A 8: 106,094,766 (GRCm39) V786M probably damaging Het
Smyd1 A G 6: 71,193,875 (GRCm39) L350P probably damaging Het
Ston2 A T 12: 91,614,681 (GRCm39) F576I probably damaging Het
Sulf2 A T 2: 165,924,598 (GRCm39) V496E probably benign Het
Tcl1b3 C A 12: 105,157,481 (GRCm39) S41Y probably damaging Het
Tulp2 A T 7: 45,169,201 (GRCm39) N256I probably damaging Het
Uspl1 T A 5: 149,138,668 (GRCm39) C349S probably damaging Het
Vcl T C 14: 21,070,604 (GRCm39) I730T probably damaging Het
Vmn1r61 A T 7: 5,614,060 (GRCm39) F85I probably benign Het
Zfp318 A G 17: 46,710,403 (GRCm39) T709A probably benign Het
Zfr2 T C 10: 81,077,919 (GRCm39) S249P probably 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
R0032:Enkur UTSW 2 21,194,115 (GRCm39) missense probably benign
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
Predicted Primers PCR Primer
(F):5'- ACTACATCTCACGGCCTCCTGAAAG -3'
(R):5'- AGTGCCCTTGAGAACCGATCATCC -3'

Sequencing Primer
(F):5'- ACAGTAGTGACCGCCTTTAG -3'
(R):5'- CCGATCATCCAGTTATGGGAATAC -3'
Posted On 2014-05-23