Incidental Mutation 'IGL03115:Cers2'
ID419355
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cers2
Ensembl Gene ENSMUSG00000015714
Gene Nameceramide synthase 2
SynonymsTrh3, 0610013I17Rik, Lass2, CerS2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.883) question?
Stock #IGL03115
Quality Score
Status
Chromosome3
Chromosomal Location95314791-95323599 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 95321352 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 162 (D162G)
Ref Sequence ENSEMBL: ENSMUSP00000121110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015841] [ENSMUST00000015858] [ENSMUST00000107170] [ENSMUST00000107171] [ENSMUST00000129267] [ENSMUST00000139498] [ENSMUST00000139866]
Predicted Effect probably benign
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 damaging
Transcript: ENSMUST00000015858
AA Change: D162G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000015858
Gene: ENSMUSG00000015714
AA Change: D162G

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 benign
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 benign
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 damaging
Transcript: ENSMUST00000129267
AA Change: D162G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121110
Gene: ENSMUSG00000015714
AA Change: D162G

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: ENSMUST00000134702
Predicted Effect probably benign
Transcript: ENSMUST00000139498
SMART Domains Protein: ENSMUSP00000122672
Gene: ENSMUSG00000015714

DomainStartEndE-ValueType
Pfam:Homeobox 65 127 5.2e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000139866
AA Change: D162G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120190
Gene: ENSMUSG00000015714
AA Change: D162G

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 noncoding transcript
Transcript: ENSMUST00000142398
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156850
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T A 14: 68,571,353 H302L probably damaging Het
Adamts12 T A 15: 11,263,336 C595S probably damaging Het
Arid2 G A 15: 96,370,273 V756I probably damaging Het
Asah1 A T 8: 41,360,299 W26R possibly damaging Het
Brinp1 C T 4: 68,904,736 probably null Het
Clasp1 G T 1: 118,501,323 E106* probably null Het
Col12a1 T C 9: 79,681,437 E1132G probably damaging Het
Dhdds G T 4: 133,982,871 H196N probably benign Het
Eps8 T C 6: 137,527,381 D118G probably damaging Het
Fmo9 A G 1: 166,677,651 S7P probably damaging Het
Gamt A G 10: 80,258,438 L197P probably damaging Het
Grb7 A G 11: 98,451,119 I82V probably damaging Het
Hectd2 T C 19: 36,599,721 probably null Het
Ilk T C 7: 105,740,335 V83A probably damaging Het
Kif21a T A 15: 90,985,395 I418F probably damaging Het
Kndc1 A G 7: 139,921,509 I905V probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Morc3 T C 16: 93,871,083 I710T probably damaging Het
Nefm T C 14: 68,120,279 probably benign Het
Olfr452 A G 6: 42,790,665 T209A probably benign Het
Olfr937 C A 9: 39,059,963 R234S probably damaging Het
Olfr975 T C 9: 39,950,744 E9G probably damaging Het
Pard6g T G 18: 80,079,853 L34W probably damaging Het
Patj C T 4: 98,443,803 S562L probably damaging Het
Pcsk4 A G 10: 80,329,049 I61T probably damaging Het
Pcsk7 T A 9: 45,914,372 H300Q probably damaging Het
Pip5kl1 A G 2: 32,580,021 D288G probably damaging Het
Plxnb2 T A 15: 89,162,438 probably benign Het
Poldip2 T C 11: 78,521,144 probably benign Het
Ralgapa2 T C 2: 146,424,814 Y614C probably damaging Het
Rarres1 C A 3: 67,495,812 probably null Het
Samd3 C T 10: 26,271,708 T427M probably damaging Het
Skap1 A G 11: 96,702,620 I98V probably benign Het
Skint11 T C 4: 114,244,623 S87P probably damaging Het
Slc22a22 T G 15: 57,263,274 E133A probably damaging Het
Slc23a2 T C 2: 132,091,265 Y91C probably damaging Het
Slc6a20b T A 9: 123,597,338 E494V possibly damaging Het
Slco1a4 A C 6: 141,817,859 M377R probably damaging Het
Slco1a4 A T 6: 141,819,603 D304E probably benign Het
Srpk2 T C 5: 23,524,618 probably null Het
Supt3 T G 17: 45,041,227 C271W probably damaging Het
Taar7d C A 10: 24,027,641 F140L probably benign Het
Tmbim7 T C 5: 3,679,158 *225Q probably null Het
Tpst1 T C 5: 130,101,911 I74T probably damaging Het
Utp3 T C 5: 88,555,320 V236A possibly damaging Het
Vmn2r55 A T 7: 12,670,631 F282I probably damaging Het
Vwa5b1 A T 4: 138,600,149 I372N possibly damaging Het
Wtip C T 7: 34,125,533 A209T probably damaging Het
Zbbx T C 3: 75,078,560 D395G probably benign Het
Zfp273 A T 13: 67,825,650 H299L probably damaging Het
Zfp459 G A 13: 67,408,677 R96* probably null Het
Other mutations in Cers2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Cers2 APN 3 95321900 missense probably damaging 1.00
IGL00328:Cers2 APN 3 95320686 missense probably benign 0.37
IGL01561:Cers2 APN 3 95322161 unclassified probably null
IGL02993:Cers2 APN 3 95320085 missense probably benign 0.00
IGL03232:Cers2 APN 3 95320157 missense probably damaging 0.97
R0118:Cers2 UTSW 3 95320226 missense probably benign 0.00
R2849:Cers2 UTSW 3 95322459 missense probably benign 0.42
R4709:Cers2 UTSW 3 95320223 missense possibly damaging 0.82
R5320:Cers2 UTSW 3 95320994 missense probably null 0.99
R5662:Cers2 UTSW 3 95320984 missense probably damaging 1.00
R5821:Cers2 UTSW 3 95321697 intron probably benign
R6808:Cers2 UTSW 3 95321009 missense probably benign 0.27
R7049:Cers2 UTSW 3 95321654 missense probably damaging 1.00
R7117:Cers2 UTSW 3 95320761 critical splice donor site probably null
R7388:Cers2 UTSW 3 95321345 missense probably benign 0.14
Posted On2016-08-02