Incidental Mutation 'R5821:Cers2'
| ID |
449921 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cers2
|
| Ensembl Gene |
ENSMUSG00000015714 |
| Gene Name |
ceramide synthase 2 |
| Synonyms |
CerS2, Trh3, 0610013I17Rik, Lass2 |
| MMRRC Submission |
043401-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.932)
|
| Stock # |
R5821 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95222102-95230910 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to A
at 95229008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015841]
[ENSMUST00000015858]
[ENSMUST00000107170]
[ENSMUST00000107171]
[ENSMUST00000129267]
[ENSMUST00000139498]
[ENSMUST00000139866]
|
| AlphaFold |
Q924Z4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015841
|
| SMART Domains |
Protein: ENSMUSP00000015841
Gene: ENSMUSG00000015697
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| SMART Domains |
Protein: ENSMUSP00000015858
Gene: ENSMUSG00000015714
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
noncoding transcript
Transcript: ENSMUST00000142398
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154055
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156850
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139498
|
| SMART Domains |
Protein: ENSMUSP00000122672
Gene: ENSMUSG00000015714
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Homeobox
|
65 |
127 |
5.2e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139866
|
| SMART Domains |
Protein: ENSMUSP00000120190
Gene: ENSMUSG00000015714
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
HOX
|
71 |
132 |
3.08e-2 |
SMART |
|
TLC
|
131 |
246 |
4.28e-11 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
100% (55/55) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
A |
T |
2: 30,686,458 (GRCm39) |
V278D |
possibly damaging |
Het |
| Acacb |
A |
G |
5: 114,322,167 (GRCm39) |
D227G |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 4,096,064 (GRCm39) |
E2313G |
probably benign |
Het |
| Cchcr1 |
A |
T |
17: 35,839,745 (GRCm39) |
E564D |
probably damaging |
Het |
| Cfap161 |
A |
G |
7: 83,425,188 (GRCm39) |
I301T |
probably benign |
Het |
| Ciita |
A |
T |
16: 10,329,669 (GRCm39) |
E648V |
possibly damaging |
Het |
| Cir1 |
C |
T |
2: 73,142,804 (GRCm39) |
C10Y |
probably damaging |
Het |
| Clasp1 |
T |
A |
1: 118,518,214 (GRCm39) |
F1087I |
probably damaging |
Het |
| Cped1 |
C |
A |
6: 22,138,681 (GRCm39) |
F415L |
probably benign |
Het |
| Dnah7b |
A |
G |
1: 46,181,292 (GRCm39) |
T1060A |
possibly damaging |
Het |
| Epha5 |
G |
T |
5: 84,232,587 (GRCm39) |
P809H |
probably damaging |
Het |
| Fuca1 |
T |
A |
4: 135,650,273 (GRCm39) |
|
probably null |
Het |
| Galnt2l |
A |
T |
8: 123,627,372 (GRCm39) |
*98R |
probably null |
Het |
| Gm26796 |
G |
A |
12: 80,805,564 (GRCm39) |
R237C |
unknown |
Het |
| Idua |
A |
G |
5: 108,827,600 (GRCm39) |
Y138C |
probably benign |
Het |
| Ighd |
A |
T |
12: 113,373,253 (GRCm39) |
L240H |
probably benign |
Het |
| Ing2 |
C |
G |
8: 48,121,861 (GRCm39) |
C229S |
probably benign |
Het |
| Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
| Kctd8 |
A |
T |
5: 69,267,828 (GRCm39) |
N427K |
probably benign |
Het |
| Kif16b |
T |
C |
2: 142,544,586 (GRCm39) |
E1147G |
probably damaging |
Het |
| Kif18a |
G |
A |
2: 109,120,190 (GRCm39) |
|
probably benign |
Het |
| Krt82 |
T |
A |
15: 101,456,820 (GRCm39) |
R187* |
probably null |
Het |
| Lrrk2 |
T |
C |
15: 91,593,593 (GRCm39) |
|
probably null |
Het |
| M1ap |
T |
C |
6: 82,945,083 (GRCm39) |
Y126H |
probably benign |
Het |
| Mmel1 |
A |
G |
4: 154,970,044 (GRCm39) |
N226D |
possibly damaging |
Het |
| Mtmr11 |
A |
G |
3: 96,075,185 (GRCm39) |
D353G |
possibly damaging |
Het |
| Nfkbia |
A |
T |
12: 55,538,005 (GRCm39) |
H149Q |
probably damaging |
Het |
| Nr5a1 |
A |
T |
2: 38,598,511 (GRCm39) |
F95L |
probably damaging |
Het |
| Nutm2 |
A |
G |
13: 50,623,891 (GRCm39) |
Y196C |
probably benign |
Het |
| Oxtr |
A |
G |
6: 112,466,457 (GRCm39) |
I101T |
probably damaging |
Het |
| Pcsk2 |
T |
A |
2: 143,591,035 (GRCm39) |
|
probably null |
Het |
| Pde5a |
T |
C |
3: 122,611,604 (GRCm39) |
I514T |
probably benign |
Het |
| Pign |
A |
G |
1: 105,516,788 (GRCm39) |
W585R |
possibly damaging |
Het |
| Pomgnt1 |
A |
G |
4: 116,012,933 (GRCm39) |
S407G |
probably benign |
Het |
| Ppfia3 |
G |
A |
7: 45,003,040 (GRCm39) |
T372I |
probably damaging |
Het |
| Prrc2b |
A |
T |
2: 32,102,144 (GRCm39) |
E739V |
probably damaging |
Het |
| Ro60 |
A |
G |
1: 143,642,503 (GRCm39) |
V209A |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,574,047 (GRCm39) |
E192G |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,183,435 (GRCm39) |
D316G |
probably damaging |
Het |
| Smim8 |
GGTTTAATGAAGAG |
GG |
4: 34,771,259 (GRCm39) |
|
probably benign |
Het |
| Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
| Tgm2 |
T |
A |
2: 157,984,974 (GRCm39) |
Y44F |
possibly damaging |
Het |
| Tmc8 |
C |
A |
11: 117,683,455 (GRCm39) |
S670* |
probably null |
Het |
| Tmem145 |
A |
G |
7: 25,014,946 (GRCm39) |
D523G |
probably benign |
Het |
| Vmn2r115 |
G |
A |
17: 23,566,937 (GRCm39) |
G483E |
probably damaging |
Het |
|
| Other mutations in Cers2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
IGL01561:Cers2
|
APN |
3 |
95,229,472 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTTATCTTGAGGGGCTAGAAG -3'
(R):5'- CCGGACGTAATTGGCAAACC -3'
Sequencing Primer
(F):5'- CTTATCTTGAGGGGCTAGAAGTAATG -3'
(R):5'- CAGAGGAGAATGATAGTGGCCAC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation