Incidental Mutation 'IGL01561:Cers2'
ID 90841
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cers2
Ensembl Gene ENSMUSG00000015714
Gene Name ceramide synthase 2
Synonyms CerS2, Trh3, 0610013I17Rik, Lass2
Accession Numbers
Essential gene? Probably essential (E-score: 0.922) question?
Stock # IGL01561
Quality Score
Status
Chromosome 3
Chromosomal Location 95222102-95230910 bp(+) (GRCm39)
Type of Mutation splice site (1364 bp from exon)
DNA Base Change (assembly) A to T at 95229472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015841] [ENSMUST00000015858] [ENSMUST00000107170] [ENSMUST00000107171] [ENSMUST00000129267] [ENSMUST00000139866] [ENSMUST00000139498]
AlphaFold Q924Z4
Predicted Effect probably null
Transcript: ENSMUST00000015841
SMART Domains Protein: ENSMUSP00000015841
Gene: ENSMUSG00000015697

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
low complexity region 121 131 N/A INTRINSIC
TUDOR 256 318 6.16e-8 SMART
TUDOR 346 401 1.03e-9 SMART
low complexity region 451 471 N/A INTRINSIC
low complexity region 496 516 N/A INTRINSIC
low complexity region 529 568 N/A INTRINSIC
MBD 615 690 4.63e-33 SMART
PreSET 697 804 1.75e-41 SMART
SET 821 1289 1.76e-41 SMART
PostSET 1292 1308 1.88e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000015858
AA Change: N259I

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000015858
Gene: ENSMUSG00000015714
AA Change: N259I

DomainStartEndE-ValueType
transmembrane domain 46 68 N/A INTRINSIC
HOX 71 132 3.08e-2 SMART
TLC 131 332 1.17e-81 SMART
low complexity region 337 360 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107170
SMART Domains Protein: ENSMUSP00000102788
Gene: ENSMUSG00000015697

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
low complexity region 121 131 N/A INTRINSIC
TUDOR 256 318 6.16e-8 SMART
TUDOR 346 401 1.03e-9 SMART
low complexity region 451 471 N/A INTRINSIC
low complexity region 496 516 N/A INTRINSIC
low complexity region 529 568 N/A INTRINSIC
MBD 615 690 4.63e-33 SMART
PreSET 697 804 1.75e-41 SMART
SET 821 1289 1.76e-41 SMART
PostSET 1292 1308 1.88e-1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000107171
SMART Domains Protein: ENSMUSP00000102789
Gene: ENSMUSG00000015697

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
low complexity region 121 131 N/A INTRINSIC
TUDOR 256 318 6.16e-8 SMART
TUDOR 346 401 1.03e-9 SMART
low complexity region 451 471 N/A INTRINSIC
low complexity region 495 515 N/A INTRINSIC
low complexity region 528 567 N/A INTRINSIC
MBD 614 689 4.63e-33 SMART
PreSET 696 803 1.75e-41 SMART
SET 820 1288 1.76e-41 SMART
PostSET 1291 1307 1.88e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124638
Predicted Effect probably benign
Transcript: ENSMUST00000129267
SMART Domains Protein: ENSMUSP00000121110
Gene: ENSMUSG00000015714

DomainStartEndE-ValueType
transmembrane domain 46 68 N/A INTRINSIC
HOX 71 132 3.08e-2 SMART
transmembrane domain 136 155 N/A INTRINSIC
transmembrane domain 175 197 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133748
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142398
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134702
Predicted Effect probably benign
Transcript: ENSMUST00000139866
SMART Domains Protein: ENSMUSP00000120190
Gene: ENSMUSG00000015714

DomainStartEndE-ValueType
transmembrane domain 46 68 N/A INTRINSIC
HOX 71 132 3.08e-2 SMART
TLC 131 246 4.28e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139498
SMART Domains Protein: ENSMUSP00000122672
Gene: ENSMUSG00000015714

DomainStartEndE-ValueType
Pfam:Homeobox 65 127 5.2e-7 PFAM
Coding Region Coverage
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 that has sequence similarity to yeast longevity assurance gene 1. Mutation or overexpression of the related gene in yeast has been shown to alter yeast lifespan. The human protein may play a role in the regulation of cell growth. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit abnormal ceramide species and myelin sheath defects and develop hepatocellular carcinoma. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 G A 11: 5,821,349 (GRCm39) D583N probably damaging Het
Aoah G T 13: 21,189,264 (GRCm39) D496Y probably damaging Het
Aoah T C 13: 21,089,905 (GRCm39) probably benign Het
Cdh10 G T 15: 19,000,012 (GRCm39) A486S possibly damaging Het
Clec4a4 T A 6: 123,000,975 (GRCm39) C229* probably null Het
Col15a1 T C 4: 47,312,118 (GRCm39) V1311A possibly damaging Het
Fpr-rs3 C T 17: 20,844,859 (GRCm39) G94D probably damaging Het
Fsd1 T A 17: 56,302,363 (GRCm39) M269K probably benign Het
Golga2 A G 2: 32,186,689 (GRCm39) M73V probably benign Het
Gusb A T 5: 130,026,927 (GRCm39) V388E probably damaging Het
Heg1 A G 16: 33,587,038 (GRCm39) N1267S probably benign Het
Htra4 A C 8: 25,523,587 (GRCm39) I326S probably damaging Het
Klhl33 T C 14: 51,128,888 (GRCm39) I780M probably benign Het
Mertk T C 2: 128,578,556 (GRCm39) S181P probably damaging Het
Mpdz T C 4: 81,202,851 (GRCm39) H1882R probably damaging Het
Muc13 A G 16: 33,626,411 (GRCm39) K317E possibly damaging Het
Nek3 A G 8: 22,619,472 (GRCm39) F440S probably damaging Het
Nrxn2 G A 19: 6,540,172 (GRCm39) R831H probably damaging Het
Or10w1 T C 19: 13,632,269 (GRCm39) F159L probably benign Het
Or1q1 T A 2: 36,886,955 (GRCm39) F44L probably benign Het
Or7e173 T C 9: 19,938,818 (GRCm39) M139V probably benign Het
Palmd A T 3: 116,717,742 (GRCm39) S252T probably damaging Het
Piezo2 C A 18: 63,257,685 (GRCm39) M344I probably benign Het
Pygo1 T A 9: 72,852,570 (GRCm39) N252K probably damaging Het
Rhobtb1 A G 10: 69,106,221 (GRCm39) Q262R probably benign Het
Xpo1 T C 11: 23,232,706 (GRCm39) Y409H possibly damaging Het
Zan T A 5: 137,462,128 (GRCm39) E1017V unknown Het
Other mutations in Cers2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Cers2 APN 3 95,229,211 (GRCm39) missense probably damaging 1.00
IGL00328:Cers2 APN 3 95,227,997 (GRCm39) missense probably benign 0.37
IGL02993:Cers2 APN 3 95,227,396 (GRCm39) missense probably benign 0.00
IGL03115:Cers2 APN 3 95,228,663 (GRCm39) missense probably damaging 1.00
IGL03232:Cers2 APN 3 95,227,468 (GRCm39) missense probably damaging 0.97
R0118:Cers2 UTSW 3 95,227,537 (GRCm39) missense probably benign 0.00
R2849:Cers2 UTSW 3 95,229,770 (GRCm39) missense probably benign 0.42
R4709:Cers2 UTSW 3 95,227,534 (GRCm39) missense possibly damaging 0.82
R5320:Cers2 UTSW 3 95,228,305 (GRCm39) missense probably null 0.99
R5662:Cers2 UTSW 3 95,228,295 (GRCm39) missense probably damaging 1.00
R5821:Cers2 UTSW 3 95,229,008 (GRCm39) intron probably benign
R6808:Cers2 UTSW 3 95,228,320 (GRCm39) missense probably benign 0.27
R7049:Cers2 UTSW 3 95,228,965 (GRCm39) missense probably damaging 1.00
R7117:Cers2 UTSW 3 95,228,072 (GRCm39) critical splice donor site probably null
R7388:Cers2 UTSW 3 95,228,656 (GRCm39) missense probably benign 0.14
R8059:Cers2 UTSW 3 95,229,982 (GRCm39) missense probably damaging 1.00
R9783:Cers2 UTSW 3 95,229,438 (GRCm39) missense probably benign 0.08
Posted On 2013-12-09