Incidental Mutation 'R5506:Cept1'
ID 430908
Institutional Source Beutler Lab
Gene Symbol Cept1
Ensembl Gene ENSMUSG00000040774
Gene Name choline/ethanolaminephosphotransferase 1
Synonyms 9930118K05Rik
MMRRC Submission 043067-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # R5506 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 106409576-106455118 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106438564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 173 (V173A)
Ref Sequence ENSEMBL: ENSMUSP00000112509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039153] [ENSMUST00000068301] [ENSMUST00000121231] [ENSMUST00000137530] [ENSMUST00000148269] [ENSMUST00000192438]
AlphaFold Q8BGS7
Predicted Effect probably benign
Transcript: ENSMUST00000039153
AA Change: V173A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000037277
Gene: ENSMUSG00000040774
AA Change: V173A

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 81 229 6.4e-23 PFAM
transmembrane domain 249 271 N/A INTRINSIC
transmembrane domain 281 303 N/A INTRINSIC
transmembrane domain 316 338 N/A INTRINSIC
transmembrane domain 370 389 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000068301
AA Change: V173A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000065743
Gene: ENSMUSG00000040774
AA Change: V173A

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 81 328 3.2e-21 PFAM
transmembrane domain 370 389 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121231
AA Change: V173A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000112509
Gene: ENSMUSG00000040774
AA Change: V173A

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 83 158 7.4e-18 PFAM
transmembrane domain 181 203 N/A INTRINSIC
transmembrane domain 213 235 N/A INTRINSIC
transmembrane domain 248 270 N/A INTRINSIC
transmembrane domain 285 304 N/A INTRINSIC
transmembrane domain 317 339 N/A INTRINSIC
transmembrane domain 370 389 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137530
SMART Domains Protein: ENSMUSP00000115898
Gene: ENSMUSG00000040774

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148269
SMART Domains Protein: ENSMUSP00000118343
Gene: ENSMUSG00000040774

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 81 178 8.8e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192438
SMART Domains Protein: ENSMUSP00000142097
Gene: ENSMUSG00000040774

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 81 215 2.3e-20 PFAM
transmembrane domain 227 246 N/A INTRINSIC
Meta Mutation Damage Score 0.0671 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.4%
  • 20x: 91.4%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene codes for a choline/ethanolaminephosphotransferase, which functions in the synthesis of choline- or ethanolamine- containing phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
PHENOTYPE: Conditional homozygous knockout in skeletal muscle leads to improved glucose tolerance, increased insulin sensitivity and muscle weakness in mice fed a high fat diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,773,708 (GRCm39) G966W probably damaging Het
A930009A15Rik G T 10: 115,414,267 (GRCm39) probably null Het
Cant1 G T 11: 118,302,268 (GRCm39) H16Q probably benign Het
Capn3 G T 2: 120,332,901 (GRCm39) V612F probably damaging Het
Cep112 A T 11: 108,555,429 (GRCm39) E141D probably damaging Het
CN725425 A G 15: 91,120,029 (GRCm39) D50G possibly damaging Het
Cubn A T 2: 13,496,506 (GRCm39) probably null Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dpp8 A G 9: 64,985,391 (GRCm39) probably null Het
Ecm1 G A 3: 95,643,169 (GRCm39) T377I probably benign Het
Exosc8 A G 3: 54,638,600 (GRCm39) probably benign Het
Fasn C T 11: 120,700,336 (GRCm39) D2165N probably benign Het
Gab2 A G 7: 96,952,320 (GRCm39) E571G probably damaging Het
Galnt5 C A 2: 57,889,637 (GRCm39) H412Q probably benign Het
Galr1 T A 18: 82,423,989 (GRCm39) Y96F possibly damaging Het
Garin1b G A 6: 29,319,297 (GRCm39) E34K probably damaging Het
Gnl2 C A 4: 124,949,158 (GRCm39) probably benign Het
H2ac22 A C 13: 21,971,081 (GRCm39) I103S probably damaging Het
H2ax T C 9: 44,246,402 (GRCm39) V115A probably benign Het
Heatr9 T C 11: 83,405,592 (GRCm39) N317S possibly damaging Het
Kndc1 A G 7: 139,507,804 (GRCm39) Y1254C probably damaging Het
Lrp6 A T 6: 134,436,259 (GRCm39) D1302E probably benign Het
Mc2r A T 18: 68,541,019 (GRCm39) Y91* probably null Het
Meis1 T G 11: 18,891,747 (GRCm39) D267A possibly damaging Het
Mki67 T C 7: 135,301,710 (GRCm39) K1108R possibly damaging Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Myh3 T G 11: 66,974,915 (GRCm39) D219E probably damaging Het
Niban2 G A 2: 32,810,994 (GRCm39) V335M probably damaging Het
Or10g1b T C 14: 52,628,084 (GRCm39) I49V probably damaging Het
Or7e166 T C 9: 19,624,570 (GRCm39) L149P possibly damaging Het
Pi4ka A G 16: 17,111,817 (GRCm39) C1553R probably damaging Het
Plekhb1 C A 7: 100,294,150 (GRCm39) probably null Het
Polr3d A T 14: 70,678,199 (GRCm39) D165E possibly damaging Het
Prb1c T C 6: 132,338,819 (GRCm39) N133S unknown Het
Psmb1 A G 17: 15,710,478 (GRCm39) Y24H probably damaging Het
Rab11fip5 A G 6: 85,351,119 (GRCm39) L131P probably damaging Het
Raph1 A T 1: 60,532,657 (GRCm39) probably benign Het
Rmc1 A G 18: 12,322,013 (GRCm39) probably benign Het
Scgb2b27 T G 7: 33,711,484 (GRCm39) probably benign Het
Serpina10 T C 12: 103,592,920 (GRCm39) D264G probably damaging Het
Sftpb A G 6: 72,281,651 (GRCm39) T15A possibly damaging Het
Slc20a1 T C 2: 129,052,739 (GRCm39) F674L probably benign Het
Syne2 A T 12: 75,985,495 (GRCm39) N1648Y probably benign Het
Thsd7a G T 6: 12,332,016 (GRCm39) N1265K possibly damaging Het
Trem2 T C 17: 48,658,802 (GRCm39) L189P probably benign Het
Washc4 A T 10: 83,417,201 (GRCm39) R865S probably damaging Het
Zfp536 A G 7: 37,268,217 (GRCm39) S400P probably damaging Het
Other mutations in Cept1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Cept1 APN 3 106,413,119 (GRCm39) missense possibly damaging 0.95
IGL01860:Cept1 APN 3 106,438,444 (GRCm39) intron probably benign
IGL02053:Cept1 APN 3 106,440,712 (GRCm39) missense probably damaging 1.00
IGL02351:Cept1 APN 3 106,446,504 (GRCm39) critical splice donor site probably null
IGL02358:Cept1 APN 3 106,446,504 (GRCm39) critical splice donor site probably null
IGL02568:Cept1 APN 3 106,411,035 (GRCm39) missense probably benign 0.03
IGL02960:Cept1 APN 3 106,446,712 (GRCm39) nonsense probably null
IGL03019:Cept1 APN 3 106,411,957 (GRCm39) missense probably damaging 1.00
IGL03182:Cept1 APN 3 106,411,866 (GRCm39) missense probably damaging 1.00
IGL03401:Cept1 APN 3 106,440,706 (GRCm39) missense probably damaging 1.00
R2128:Cept1 UTSW 3 106,420,195 (GRCm39) missense probably damaging 1.00
R2928:Cept1 UTSW 3 106,438,468 (GRCm39) missense probably benign 0.07
R3688:Cept1 UTSW 3 106,427,331 (GRCm39) missense probably benign 0.00
R4762:Cept1 UTSW 3 106,446,677 (GRCm39) nonsense probably null
R4861:Cept1 UTSW 3 106,413,048 (GRCm39) missense probably damaging 0.97
R4861:Cept1 UTSW 3 106,413,048 (GRCm39) missense probably damaging 0.97
R4890:Cept1 UTSW 3 106,413,123 (GRCm39) missense probably damaging 1.00
R5999:Cept1 UTSW 3 106,440,759 (GRCm39) missense probably damaging 1.00
R6106:Cept1 UTSW 3 106,410,992 (GRCm39) missense probably benign 0.00
R6478:Cept1 UTSW 3 106,440,761 (GRCm39) nonsense probably null
R6560:Cept1 UTSW 3 106,412,594 (GRCm39) missense possibly damaging 0.84
R6858:Cept1 UTSW 3 106,420,195 (GRCm39) splice site probably null
R7372:Cept1 UTSW 3 106,411,056 (GRCm39) missense probably benign 0.14
R8481:Cept1 UTSW 3 106,412,569 (GRCm39) missense probably benign
R8910:Cept1 UTSW 3 106,446,565 (GRCm39) missense probably benign
R8936:Cept1 UTSW 3 106,411,921 (GRCm39) missense possibly damaging 0.91
R9337:Cept1 UTSW 3 106,412,575 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GCACTTCATTTCCAAAGGAATACAG -3'
(R):5'- ACTTTGCTTCAGCTAAATGACC -3'

Sequencing Primer
(F):5'- TTCATTTCCAAAGGAATACAGAGAGG -3'
(R):5'- TCTGTATCTCATCTAAGGTGA -3'
Posted On 2016-10-05