Incidental Mutation 'R6312:Cers5'
ID 509843
Institutional Source Beutler Lab
Gene Symbol Cers5
Ensembl Gene ENSMUSG00000023021
Gene Name ceramide synthase 5
Synonyms 2310081H14Rik, CerS5, Lass5, Trh4
MMRRC Submission 044415-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6312 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 99633473-99670396 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99644996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 119 (V119A)
Ref Sequence ENSEMBL: ENSMUSP00000135074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023762] [ENSMUST00000109035] [ENSMUST00000175876] [ENSMUST00000176248] [ENSMUST00000176627]
AlphaFold Q9D6K9
Predicted Effect probably benign
Transcript: ENSMUST00000023762
AA Change: V119A

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000023762
Gene: ENSMUSG00000023021
AA Change: V119A

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
Blast:TLC 24 66 9e-17 BLAST
HOX 78 140 5.6e-2 SMART
TLC 139 340 4.35e-76 SMART
low complexity region 343 361 N/A INTRINSIC
low complexity region 366 382 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109035
AA Change: V119A

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000104663
Gene: ENSMUSG00000023021
AA Change: V119A

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
Blast:TLC 24 66 6e-17 BLAST
HOX 78 140 5.6e-2 SMART
TLC 139 340 4.35e-76 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175876
AA Change: V70A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000134845
Gene: ENSMUSG00000023021
AA Change: V70A

DomainStartEndE-ValueType
HOX 29 91 5.6e-2 SMART
TLC 90 241 1.29e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176248
AA Change: V119A

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000135074
Gene: ENSMUSG00000023021
AA Change: V119A

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
Blast:TLC 24 66 9e-18 BLAST
HOX 78 140 2.8e-4 SMART
TLC 139 251 1.7e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176627
AA Change: V68A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000134988
Gene: ENSMUSG00000023021
AA Change: V68A

DomainStartEndE-ValueType
HOX 27 89 5.6e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176970
SMART Domains Protein: ENSMUSP00000135723
Gene: ENSMUSG00000023021

DomainStartEndE-ValueType
TLC 1 153 3.49e-25 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
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 belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,936,541 (GRCm39) S472P possibly damaging Het
Aadacl4fm1 A T 4: 144,255,072 (GRCm39) H164L probably benign Het
Abraxas2 G A 7: 132,476,694 (GRCm39) A145T probably damaging Het
AC153874.1 T A 10: 77,682,961 (GRCm39) probably benign Het
Acadvl T A 11: 69,902,593 (GRCm39) M375L probably damaging Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Arl4d T C 11: 101,558,079 (GRCm39) *202R probably null Het
B3gat2 G T 1: 23,854,548 (GRCm39) E83* probably null Het
Bmper C A 9: 23,318,087 (GRCm39) Q569K possibly damaging Het
C2cd4d C A 3: 94,271,742 (GRCm39) P336H probably damaging Het
Cct2 A T 10: 116,891,960 (GRCm39) S363T probably benign Het
Cfhr2 C T 1: 139,758,817 (GRCm39) V78I possibly damaging Het
Crocc2 A T 1: 93,143,432 (GRCm39) K1345* probably null Het
Cyp4f39 T C 17: 32,702,268 (GRCm39) M255T probably benign Het
Dpp6 A T 5: 27,930,669 (GRCm39) I834F possibly damaging Het
Dpy19l4 T A 4: 11,289,671 (GRCm39) K205* probably null Het
Epg5 T A 18: 78,022,426 (GRCm39) D1056E possibly damaging Het
Fam20a A C 11: 109,565,456 (GRCm39) C452G probably damaging Het
Gnai2 A T 9: 107,512,316 (GRCm39) V34E probably damaging Het
Gng3 A G 19: 8,815,997 (GRCm39) V7A probably benign Het
Hdc A G 2: 126,449,326 (GRCm39) V77A possibly damaging Het
Hint1 G A 11: 54,760,816 (GRCm39) C85Y probably benign Het
Kif17 C T 4: 138,015,504 (GRCm39) S551L probably benign Het
Lgr5 A G 10: 115,288,829 (GRCm39) L581P probably damaging Het
Lig4 G T 8: 10,021,739 (GRCm39) N680K probably benign Het
Lipi T A 16: 75,370,803 (GRCm39) Y138F probably damaging Het
Lrp2 C T 2: 69,267,025 (GRCm39) G4294E probably damaging Het
Lrrc7 A G 3: 157,866,246 (GRCm39) M1165T probably benign Het
Mtpap T C 18: 4,396,175 (GRCm39) I489T possibly damaging Het
Nlrp1b T A 11: 71,119,223 (GRCm39) N24I probably benign Het
Nlrp4a A G 7: 26,148,821 (GRCm39) T143A probably benign Het
Nudt2 A G 4: 41,480,386 (GRCm39) T90A probably benign Het
Or1j20 A T 2: 36,760,477 (GRCm39) I300L probably benign Het
Or52n20 T A 7: 104,320,796 (GRCm39) Y296N probably damaging Het
Or8b36 GTTT GTTTGCTGTTTT 9: 37,937,842 (GRCm39) probably null Het
Or8b36 TTT TTTGCTGATT 9: 37,937,843 (GRCm39) probably null Het
Or8b36 T TGCTGTTC 9: 37,937,845 (GRCm39) probably null Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or8b36 TTGCTGT TTGCTGTCTGCTGT 9: 37,937,837 (GRCm39) probably null Het
Or8k53 A T 2: 86,177,925 (GRCm39) F62I probably damaging Het
Osmr A G 15: 6,853,119 (GRCm39) V592A probably damaging Het
Rbp2 G T 9: 98,372,700 (GRCm39) S13I probably benign Het
Rsf1 A AGGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Rusf1 T C 7: 127,872,715 (GRCm39) K411R probably benign Het
Slc6a7 A G 18: 61,135,457 (GRCm39) S381P probably benign Het
Slitrk6 A G 14: 110,987,679 (GRCm39) L676P probably benign Het
Sspo T C 6: 48,434,300 (GRCm39) probably null Het
Tectb CT C 19: 55,181,094 (GRCm39) probably null Homo
Tma16 T C 8: 66,934,118 (GRCm39) E79G probably damaging Het
Trim14 G T 4: 46,507,257 (GRCm39) H320N probably damaging Het
Trim63 A G 4: 134,053,008 (GRCm39) D323G probably damaging Het
Vash2 C A 1: 190,690,880 (GRCm39) R309L probably benign Het
Vmn1r62 G A 7: 5,679,083 (GRCm39) V255M possibly damaging Het
Vmn2r53 T A 7: 12,332,566 (GRCm39) probably null Het
Zfp382 G A 7: 29,833,963 (GRCm39) R538H probably damaging Het
Zfp592 T A 7: 80,673,184 (GRCm39) D49E probably benign Het
Zfp60 T C 7: 27,448,201 (GRCm39) C290R probably damaging Het
Zfp69 G A 4: 120,806,714 (GRCm39) probably benign Het
Zfp790 G T 7: 29,527,647 (GRCm39) G111W probably damaging Het
Zfp948 T C 17: 21,807,429 (GRCm39) I207T possibly damaging Het
Other mutations in Cers5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01290:Cers5 APN 15 99,637,536 (GRCm39) nonsense probably null
coleman UTSW 15 99,649,119 (GRCm39) nonsense probably null
R0178:Cers5 UTSW 15 99,644,905 (GRCm39) splice site probably benign
R0483:Cers5 UTSW 15 99,643,795 (GRCm39) missense probably damaging 1.00
R0589:Cers5 UTSW 15 99,638,837 (GRCm39) missense probably damaging 1.00
R1433:Cers5 UTSW 15 99,643,812 (GRCm39) nonsense probably null
R1757:Cers5 UTSW 15 99,634,212 (GRCm39) missense probably benign 0.31
R2520:Cers5 UTSW 15 99,634,262 (GRCm39) missense probably damaging 0.97
R3008:Cers5 UTSW 15 99,670,598 (GRCm39) unclassified probably benign
R3010:Cers5 UTSW 15 99,670,598 (GRCm39) unclassified probably benign
R3011:Cers5 UTSW 15 99,670,598 (GRCm39) unclassified probably benign
R4379:Cers5 UTSW 15 99,649,134 (GRCm39) missense probably damaging 1.00
R4732:Cers5 UTSW 15 99,639,518 (GRCm39) missense probably benign 0.38
R4733:Cers5 UTSW 15 99,639,518 (GRCm39) missense probably benign 0.38
R4911:Cers5 UTSW 15 99,644,960 (GRCm39) missense probably damaging 1.00
R5441:Cers5 UTSW 15 99,649,119 (GRCm39) nonsense probably null
R6089:Cers5 UTSW 15 99,638,883 (GRCm39) missense probably benign 0.01
R6161:Cers5 UTSW 15 99,636,544 (GRCm39) critical splice donor site probably null
R6247:Cers5 UTSW 15 99,643,805 (GRCm39) missense probably benign 0.03
R6300:Cers5 UTSW 15 99,670,100 (GRCm39) missense probably damaging 1.00
R6861:Cers5 UTSW 15 99,670,244 (GRCm39) unclassified probably benign
R7780:Cers5 UTSW 15 99,637,589 (GRCm39) missense probably damaging 1.00
R7800:Cers5 UTSW 15 99,634,122 (GRCm39) missense probably benign 0.02
R7843:Cers5 UTSW 15 99,670,212 (GRCm39) missense unknown
R7995:Cers5 UTSW 15 99,638,823 (GRCm39) critical splice donor site probably null
R8491:Cers5 UTSW 15 99,638,831 (GRCm39) missense probably damaging 1.00
R8789:Cers5 UTSW 15 99,637,551 (GRCm39) missense possibly damaging 0.88
R9325:Cers5 UTSW 15 99,637,338 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGACATTCATCGTCCCAACAG -3'
(R):5'- CTTCCTTAAACCAACTGTGTGATG -3'

Sequencing Primer
(F):5'- ATCGTCCCAACAGTAAACTTATTTCC -3'
(R):5'- TAAAACATGGAGAAGCTGTGTAGTAG -3'
Posted On 2018-04-02