Incidental Mutation 'R7049:Cers2'
| ID |
547476 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cers2
|
| Ensembl Gene |
ENSMUSG00000015714 |
| Gene Name |
ceramide synthase 2 |
| Synonyms |
CerS2, Trh3, 0610013I17Rik, Lass2 |
| MMRRC Submission |
045147-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.932)
|
| Stock # |
R7049 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95222102-95230910 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95228965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 200
(D200G)
|
| 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 damaging
Transcript: ENSMUST00000015858
AA Change: D200G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000015858
Gene: ENSMUSG00000015714
AA Change: D200G
| 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 |
probably damaging
Transcript: ENSMUST00000129267
AA Change: D200G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121110
Gene: ENSMUSG00000015714
AA Change: D200G
| 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 |
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 damaging
Transcript: ENSMUST00000139866
AA Change: D200G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120190
Gene: ENSMUSG00000015714
AA Change: D200G
| 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 |
|
| Meta Mutation Damage Score |
0.9438 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (46/46) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,941,497 (GRCm39) |
V447A |
probably benign |
Het |
| Adam6b |
A |
G |
12: 113,454,122 (GRCm39) |
D313G |
probably damaging |
Het |
| Adcy10 |
G |
T |
1: 165,367,443 (GRCm39) |
C571F |
probably damaging |
Het |
| Anxa1 |
A |
G |
19: 20,352,635 (GRCm39) |
V313A |
probably benign |
Het |
| Bpifb6 |
A |
T |
2: 153,750,733 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
C |
A |
6: 118,578,124 (GRCm39) |
C1713F |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,754,585 (GRCm39) |
N354S |
probably benign |
Het |
| Cpne1 |
A |
G |
2: 155,920,727 (GRCm39) |
L133P |
probably damaging |
Het |
| Ddhd1 |
A |
G |
14: 45,840,138 (GRCm39) |
Y16H |
probably damaging |
Het |
| Depp1 |
T |
C |
6: 116,629,254 (GRCm39) |
L199P |
probably damaging |
Het |
| Fastkd2 |
T |
C |
1: 63,771,009 (GRCm39) |
F122L |
probably benign |
Het |
| Fastkd5 |
A |
T |
2: 130,457,431 (GRCm39) |
D386E |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,828,292 (GRCm39) |
C291S |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,596,634 (GRCm39) |
S811G |
probably damaging |
Het |
| Hcn1 |
C |
T |
13: 118,111,998 (GRCm39) |
P654L |
unknown |
Het |
| Hrnr |
C |
A |
3: 93,230,461 (GRCm39) |
S233* |
probably null |
Het |
| Hspa5 |
C |
T |
2: 34,663,204 (GRCm39) |
P127L |
probably damaging |
Het |
| Itgal |
A |
T |
7: 126,895,573 (GRCm39) |
|
probably benign |
Het |
| L3mbtl4 |
G |
T |
17: 68,768,561 (GRCm39) |
R223L |
probably benign |
Het |
| Mical1 |
A |
G |
10: 41,358,246 (GRCm39) |
R420G |
possibly damaging |
Het |
| Mllt6 |
T |
A |
11: 97,564,637 (GRCm39) |
L481Q |
probably damaging |
Het |
| Mtdh |
T |
A |
15: 34,131,311 (GRCm39) |
N174K |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,407,386 (GRCm39) |
M1507V |
probably damaging |
Het |
| Npm3 |
A |
T |
19: 45,737,994 (GRCm39) |
M1K |
probably null |
Het |
| Or1e21 |
C |
T |
11: 73,344,430 (GRCm39) |
G203R |
probably damaging |
Het |
| Pold1 |
A |
T |
7: 44,190,795 (GRCm39) |
W290R |
possibly damaging |
Het |
| Prss52 |
C |
T |
14: 64,350,021 (GRCm39) |
T216I |
probably damaging |
Het |
| Psme4 |
T |
C |
11: 30,763,904 (GRCm39) |
|
probably null |
Het |
| Pwwp2a |
T |
A |
11: 43,597,018 (GRCm39) |
F453I |
probably damaging |
Het |
| Rttn |
A |
G |
18: 89,082,340 (GRCm39) |
N1422S |
probably damaging |
Het |
| Scaf4 |
A |
C |
16: 90,057,075 (GRCm39) |
I92R |
unknown |
Het |
| Slc12a1 |
A |
G |
2: 125,013,177 (GRCm39) |
K345E |
probably benign |
Het |
| Slc22a28 |
A |
T |
19: 8,049,270 (GRCm39) |
N326K |
probably benign |
Het |
| Smgc |
A |
G |
15: 91,744,576 (GRCm39) |
E311G |
possibly damaging |
Het |
| Snx7 |
C |
T |
3: 117,633,680 (GRCm39) |
R90H |
possibly damaging |
Het |
| Tex101 |
A |
G |
7: 24,367,683 (GRCm39) |
I223T |
probably benign |
Het |
| Tnik |
A |
T |
3: 28,715,853 (GRCm39) |
K1093* |
probably null |
Het |
| Tnxb |
T |
G |
17: 34,936,242 (GRCm39) |
|
probably null |
Het |
| Trio |
T |
C |
15: 27,749,885 (GRCm39) |
N2272S |
possibly damaging |
Het |
| Tubal3 |
T |
C |
13: 3,982,756 (GRCm39) |
Y179H |
probably damaging |
Het |
| Vmn2r4 |
C |
T |
3: 64,296,550 (GRCm39) |
G745D |
probably benign |
Het |
| Vps9d1 |
A |
T |
8: 123,973,882 (GRCm39) |
Y300* |
probably null |
Het |
| Zfp646 |
T |
A |
7: 127,479,199 (GRCm39) |
C459S |
possibly 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 |
|
R5821:Cers2
|
UTSW |
3 |
95,229,008 (GRCm39) |
intron |
probably benign |
|
|
R6808:Cers2
|
UTSW |
3 |
95,228,320 (GRCm39) |
missense |
probably benign |
0.27 |
|
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'- TCATGAAAGACTTATCTTGAGGGGC -3'
(R):5'- GAATGATAGTGGCCACATGGTG -3'
Sequencing Primer
(F):5'- GACTTATCTTGAGGGGCTAGAAG -3'
(R):5'- GGTGGATGATCTGTTCCTTAAAATCC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation