Incidental Mutation 'R1595:Etnk2'
ID175701
Institutional Source Beutler Lab
Gene Symbol Etnk2
Ensembl Gene ENSMUSG00000070644
Gene Nameethanolamine kinase 2
Synonyms4933417N20Rik, Eki2
MMRRC Submission 039632-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.229) question?
Stock #R1595 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location133363572-133380336 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 133373179 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 228 (L228R)
Ref Sequence ENSEMBL: ENSMUSP00000114272 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000129213] [ENSMUST00000135222]
Predicted Effect possibly damaging
Transcript: ENSMUST00000129213
AA Change: L125R

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122244
Gene: ENSMUSG00000070644
AA Change: L125R

DomainStartEndE-ValueType
Pfam:Choline_kinase 1 200 4.7e-64 PFAM
Pfam:APH 2 227 2.2e-21 PFAM
Pfam:EcKinase 58 211 1.8e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131450
Predicted Effect possibly damaging
Transcript: ENSMUST00000135222
AA Change: L228R

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114272
Gene: ENSMUSG00000070644
AA Change: L228R

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:APH 84 331 1e-19 PFAM
Pfam:Choline_kinase 104 303 2.7e-64 PFAM
Pfam:EcKinase 163 313 2.8e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156832
Meta Mutation Damage Score 0.094 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.1%
Validation Efficiency 97% (77/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of choline/ethanolamine kinase family which catalyzes the first step of phosphatidylethanolamine (PtdEtn) biosynthesis via the cytidine diphosphate (CDP) ethanolamine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous mutation of this gene results in maternal-specific intrauterine growth retardation resulting in reduced litter size and perinatal lethality due to extensive placental thrombosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 C T 1: 75,177,300 probably null Het
Abcc10 G T 17: 46,322,238 P556H probably damaging Het
Abcc9 A T 6: 142,633,095 D914E probably benign Het
Adgrf4 A G 17: 42,667,873 V193A probably benign Het
Adm A T 7: 110,629,091 T160S probably damaging Het
Ammecr1l T C 18: 31,772,120 probably null Het
Angpt2 T C 8: 18,698,113 D377G probably damaging Het
Ankfn1 A G 11: 89,422,767 probably null Het
Arhgap30 T G 1: 171,408,341 M761R probably benign Het
Asb4 T G 6: 5,390,692 N28K probably damaging Het
Ccdc144b C T 3: 36,018,997 A379T probably damaging Het
Cd177 A T 7: 24,744,964 D696E probably benign Het
Cd200 G A 16: 45,394,851 T123I probably benign Het
Cfap70 A G 14: 20,447,536 V50A probably benign Het
Chaf1b T C 16: 93,905,099 probably null Het
Chgb A C 2: 132,793,737 D533A probably benign Het
Col12a1 A G 9: 79,602,254 Y3041H probably damaging Het
Crot T C 5: 8,974,186 N337D probably benign Het
Csad G A 15: 102,177,782 A51V probably damaging Het
Cyp2b9 A G 7: 26,200,907 Y380C possibly damaging Het
Dpysl2 G T 14: 66,815,503 A299E probably damaging Het
Efcc1 A G 6: 87,731,458 E189G probably damaging Het
Egfr T C 11: 16,906,847 I940T probably damaging Het
Fitm2 A G 2: 163,469,690 I201T probably benign Het
Foxo1 A T 3: 52,345,954 M513L probably benign Het
Galnt16 A T 12: 80,590,636 K379I probably damaging Het
Gm5689 T C 18: 42,173,389 M7T probably benign Het
Gtf2a1 T A 12: 91,589,549 N6Y probably damaging Het
Kcnc1 G A 7: 46,427,586 V271M probably benign Het
Klhdc8b T A 9: 108,451,163 D30V probably damaging Het
Lrrc7 G A 3: 158,177,277 Q448* probably null Het
Med29 T C 7: 28,392,503 D54G probably damaging Het
Mfn2 T C 4: 147,894,696 T60A probably benign Het
Mroh1 T C 15: 76,433,530 probably benign Het
Mxd1 A T 6: 86,651,471 V149E possibly damaging Het
Naip6 A T 13: 100,299,094 Y974N probably damaging Het
Ndn C T 7: 62,348,508 P34L probably benign Het
Nhsl1 G T 10: 18,526,348 K1107N probably damaging Het
Nlrc3 T C 16: 3,965,302 E81G probably benign Het
Olfr119 G T 17: 37,701,113 A148S probably benign Het
Olfr311 G T 11: 58,841,652 M179I probably benign Het
Osbpl5 C T 7: 143,703,218 V392M possibly damaging Het
Pcdhb22 T A 18: 37,520,453 V401E probably damaging Het
Pcm1 T A 8: 41,309,635 H1444Q probably damaging Het
Pdlim2 A G 14: 70,164,744 Y308H probably damaging Het
Phf14 T G 6: 11,988,753 L664R possibly damaging Het
Phkb T C 8: 86,026,553 probably benign Het
Ptchd3 T A 11: 121,830,594 F98I probably damaging Het
Ptprt C T 2: 161,810,549 probably null Het
Rbp3 A T 14: 33,956,198 H701L possibly damaging Het
Rgl1 T C 1: 152,675,023 probably benign Het
Satb1 A T 17: 51,782,701 S373T possibly damaging Het
Scn3a T A 2: 65,498,979 Y769F probably damaging Het
Senp7 A G 16: 56,184,768 I922V probably damaging Het
Serpina3g A G 12: 104,239,272 E90G probably benign Het
Sh3rf2 C T 18: 42,111,288 T273I probably damaging Het
Slc15a3 A G 19: 10,854,311 T350A probably benign Het
Socs5 T C 17: 87,134,195 C188R probably damaging Het
Tacr1 A G 6: 82,403,742 T45A probably benign Het
Th A G 7: 142,897,008 V117A probably benign Het
Thpo C A 16: 20,728,456 D81Y probably damaging Het
Tmem229b-ps A G 10: 53,475,289 noncoding transcript Het
Trpc4 A G 3: 54,315,815 E724G probably benign Het
Ttn T C 2: 76,746,633 T24639A probably damaging Het
Ulk4 A G 9: 121,044,838 S1176P probably damaging Het
Urgcp T C 11: 5,717,447 D297G probably damaging Het
Vmn1r168 G A 7: 23,541,195 G159D probably damaging Het
Vmn1r67 A T 7: 10,447,670 N226I probably benign Het
Vmn2r27 T C 6: 124,231,615 E57G probably benign Het
Zdhhc14 G T 17: 5,493,556 R37L probably benign Het
Zfp512b G A 2: 181,588,436 T499I probably damaging Het
Zmym2 A T 14: 56,920,730 K575N probably benign Het
Other mutations in Etnk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1123:Etnk2 UTSW 1 133373272 missense probably benign 0.00
R1551:Etnk2 UTSW 1 133373257 missense probably damaging 1.00
R1728:Etnk2 UTSW 1 133365587 missense probably benign 0.05
R1728:Etnk2 UTSW 1 133365765 missense probably damaging 1.00
R1728:Etnk2 UTSW 1 133365816 nonsense probably null
R1728:Etnk2 UTSW 1 133365817 missense probably benign 0.08
R1728:Etnk2 UTSW 1 133376915 missense probably benign
R1729:Etnk2 UTSW 1 133363923 missense probably benign
R1729:Etnk2 UTSW 1 133365587 missense probably benign 0.05
R1729:Etnk2 UTSW 1 133365765 missense probably damaging 1.00
R1729:Etnk2 UTSW 1 133365816 nonsense probably null
R1729:Etnk2 UTSW 1 133365817 missense probably benign 0.08
R1729:Etnk2 UTSW 1 133376915 missense probably benign
R1730:Etnk2 UTSW 1 133363923 missense probably benign
R1730:Etnk2 UTSW 1 133365587 missense probably benign 0.05
R1730:Etnk2 UTSW 1 133365765 missense probably damaging 1.00
R1730:Etnk2 UTSW 1 133365816 nonsense probably null
R1730:Etnk2 UTSW 1 133365817 missense probably benign 0.08
R1730:Etnk2 UTSW 1 133376915 missense probably benign
R1739:Etnk2 UTSW 1 133363923 missense probably benign
R1739:Etnk2 UTSW 1 133365587 missense probably benign 0.05
R1739:Etnk2 UTSW 1 133365765 missense probably damaging 1.00
R1739:Etnk2 UTSW 1 133365816 nonsense probably null
R1739:Etnk2 UTSW 1 133365817 missense probably benign 0.08
R1739:Etnk2 UTSW 1 133376915 missense probably benign
R1762:Etnk2 UTSW 1 133365587 missense probably benign 0.05
R1762:Etnk2 UTSW 1 133365765 missense probably damaging 1.00
R1762:Etnk2 UTSW 1 133365816 nonsense probably null
R1762:Etnk2 UTSW 1 133365817 missense probably benign 0.08
R1762:Etnk2 UTSW 1 133376915 missense probably benign
R1762:Etnk2 UTSW 1 133377046 missense probably benign 0.38
R1783:Etnk2 UTSW 1 133363923 missense probably benign
R1783:Etnk2 UTSW 1 133365587 missense probably benign 0.05
R1783:Etnk2 UTSW 1 133365765 missense probably damaging 1.00
R1783:Etnk2 UTSW 1 133365816 nonsense probably null
R1783:Etnk2 UTSW 1 133365817 missense probably benign 0.08
R1783:Etnk2 UTSW 1 133376915 missense probably benign
R1783:Etnk2 UTSW 1 133377046 missense probably benign 0.38
R1784:Etnk2 UTSW 1 133363890 missense probably benign 0.08
R1784:Etnk2 UTSW 1 133365587 missense probably benign 0.05
R1784:Etnk2 UTSW 1 133365765 missense probably damaging 1.00
R1784:Etnk2 UTSW 1 133365816 nonsense probably null
R1784:Etnk2 UTSW 1 133365817 missense probably benign 0.08
R1784:Etnk2 UTSW 1 133376915 missense probably benign
R1784:Etnk2 UTSW 1 133377046 missense probably benign 0.38
R1785:Etnk2 UTSW 1 133363923 missense probably benign
R1785:Etnk2 UTSW 1 133365587 missense probably benign 0.05
R1785:Etnk2 UTSW 1 133365765 missense probably damaging 1.00
R1785:Etnk2 UTSW 1 133365816 nonsense probably null
R1785:Etnk2 UTSW 1 133365817 missense probably benign 0.08
R1785:Etnk2 UTSW 1 133376915 missense probably benign
R2089:Etnk2 UTSW 1 133377053 critical splice donor site probably null
R2091:Etnk2 UTSW 1 133377053 critical splice donor site probably null
R2091:Etnk2 UTSW 1 133377053 critical splice donor site probably null
R5141:Etnk2 UTSW 1 133368862 missense probably benign 0.01
R5418:Etnk2 UTSW 1 133373257 missense probably damaging 1.00
R5586:Etnk2 UTSW 1 133379305 splice site probably null
R5922:Etnk2 UTSW 1 133363885 unclassified probably null
X0025:Etnk2 UTSW 1 133373239 missense probably damaging 1.00
X0026:Etnk2 UTSW 1 133365670 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAGGGGTGCCATTTAGTCAGTAAC -3'
(R):5'- ACCCTTCTCTCCTAGAAATCGGCAG -3'

Sequencing Primer
(F):5'- ACAGGACACACTTATGTGTGAC -3'
(R):5'- GACCAACCAACTGCTTATGTC -3'
Posted On2014-04-24