Incidental Mutation 'R6161:Cers5'
ID 489893
Institutional Source Beutler Lab
Gene Symbol Cers5
Ensembl Gene ENSMUSG00000023021
Gene Name ceramide synthase 5
Synonyms 2310081H14Rik, CerS5, Lass5, Trh4
MMRRC Submission 044308-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6161 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 99633473-99670396 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 99636544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000023762] [ENSMUST00000109035] [ENSMUST00000175876] [ENSMUST00000176248]
AlphaFold Q9D6K9
Predicted Effect probably null
Transcript: ENSMUST00000023762
SMART Domains Protein: ENSMUSP00000023762
Gene: ENSMUSG00000023021

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 null
Transcript: ENSMUST00000109035
SMART Domains Protein: ENSMUSP00000104663
Gene: ENSMUSG00000023021

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
SMART Domains Protein: ENSMUSP00000134845
Gene: ENSMUSG00000023021

DomainStartEndE-ValueType
HOX 29 91 5.6e-2 SMART
TLC 90 241 1.29e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176248
SMART Domains Protein: ENSMUSP00000135074
Gene: ENSMUSG00000023021

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 null
Transcript: ENSMUST00000176970
SMART Domains Protein: ENSMUSP00000135723
Gene: ENSMUSG00000023021

DomainStartEndE-ValueType
TLC 1 153 3.49e-25 SMART
Meta Mutation Damage Score 0.9713 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 100% (54/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,139,934 (GRCm39) K1533M probably damaging Het
Aldh1l2 C T 10: 83,356,202 (GRCm39) V63I probably benign Het
Atr A G 9: 95,747,372 (GRCm39) H218R probably benign Het
Atxn7l1 T A 12: 33,408,662 (GRCm39) S275T possibly damaging Het
Cacna1c T C 6: 119,034,263 (GRCm39) K88R probably damaging Het
Ccl7 T C 11: 81,937,412 (GRCm39) Y49H probably damaging Het
Chuk T C 19: 44,071,076 (GRCm39) E543G probably damaging Het
Dip2c T C 13: 9,697,043 (GRCm39) V1318A probably damaging Het
Ercc5 A G 1: 44,206,512 (GRCm39) H475R probably benign Het
Fat3 A G 9: 16,288,818 (GRCm39) L235P probably damaging Het
Fbn1 A T 2: 125,211,721 (GRCm39) C892* probably null Het
Fbxw8 T C 5: 118,230,740 (GRCm39) T354A possibly damaging Het
Fsip2 A C 2: 82,817,601 (GRCm39) T4445P possibly damaging Het
Gpld1 A T 13: 25,155,397 (GRCm39) Q344L probably benign Het
Hao1 A T 2: 134,347,545 (GRCm39) D253E probably benign Het
Hmcn2 A G 2: 31,246,266 (GRCm39) D745G probably benign Het
Kcnt1 A G 2: 25,793,397 (GRCm39) T658A probably benign Het
Klhl35 A G 7: 99,122,544 (GRCm39) probably benign Het
Lnx2 C T 5: 146,978,836 (GRCm39) probably null Het
Map3k5 T C 10: 19,876,321 (GRCm39) V160A probably damaging Het
Masp2 A T 4: 148,698,469 (GRCm39) I517F possibly damaging Het
Mc4r A T 18: 66,992,251 (GRCm39) Y287* probably null Het
Mthfr A G 4: 148,126,211 (GRCm39) D94G probably benign Het
Muc16 A G 9: 18,559,114 (GRCm39) I2393T unknown Het
Mybbp1a G T 11: 72,336,838 (GRCm39) V557L probably damaging Het
Mycbp2 A T 14: 103,536,183 (GRCm39) W256R probably damaging Het
Nacad G A 11: 6,550,902 (GRCm39) S763L probably benign Het
Nebl A G 2: 17,735,641 (GRCm39) V11A probably benign Het
Notch1 A T 2: 26,358,743 (GRCm39) C1363S probably damaging Het
Nphp3 A G 9: 103,909,105 (GRCm39) N772D probably benign Het
Nqo2 G A 13: 34,163,634 (GRCm39) V98M probably damaging Het
Pak4 A G 7: 28,264,692 (GRCm39) I70T possibly damaging Het
Pbx2 A G 17: 34,812,574 (GRCm39) K2E probably damaging Het
Pikfyve A G 1: 65,255,202 (GRCm39) T352A probably benign Het
Polr1g G A 7: 19,091,558 (GRCm39) T183I possibly damaging Het
Pop1 T C 15: 34,526,456 (GRCm39) Y684H probably damaging Het
Rpa1 A G 11: 75,205,721 (GRCm39) V212A probably damaging Het
Rpap2 A G 5: 107,768,536 (GRCm39) E458G probably damaging Het
Sin3a T C 9: 57,002,708 (GRCm39) V200A possibly damaging Het
Sla T C 15: 66,654,447 (GRCm39) T280A probably null Het
Slc22a26 A T 19: 7,763,812 (GRCm39) I406K possibly damaging Het
Slc24a1 T C 9: 64,844,545 (GRCm39) N606S unknown Het
Slc39a10 G A 1: 46,866,567 (GRCm39) T443M probably damaging Het
Smg1 A T 7: 117,762,553 (GRCm39) probably benign Het
Sra1 G A 18: 36,803,336 (GRCm39) A9V probably damaging Het
Stard4 A G 18: 33,342,109 (GRCm39) V47A probably damaging Het
Stat4 A T 1: 52,113,836 (GRCm39) D182V possibly damaging Het
Syt1 A G 10: 108,467,668 (GRCm39) F210L probably damaging Het
Ube2q1 T A 3: 89,688,667 (GRCm39) probably null Het
Vmn1r159 C T 7: 22,542,612 (GRCm39) C140Y possibly damaging Het
Wnt8a T C 18: 34,678,599 (GRCm39) F138L possibly damaging Het
Zfp623 T A 15: 75,820,470 (GRCm39) D475E probably benign Het
Zfp646 C T 7: 127,477,897 (GRCm39) R25W probably 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
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
R6312:Cers5 UTSW 15 99,644,996 (GRCm39) missense probably benign 0.11
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'- TTGCCAGTTTGTATGCTCAGC -3'
(R):5'- CTCCTTGTTCTAGGATTCTGAACAC -3'

Sequencing Primer
(F):5'- CAGGGTTTACAGGTATACATACGCC -3'
(R):5'- CAACCCTCTTTGAAAGCTGGGAG -3'
Posted On 2017-10-10