Incidental Mutation 'R5662:Cers2'
| ID |
444121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cers2
|
| Ensembl Gene |
ENSMUSG00000015714 |
| Gene Name |
ceramide synthase 2 |
| Synonyms |
CerS2, Trh3, 0610013I17Rik, Lass2 |
| MMRRC Submission |
043305-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.932)
|
| Stock # |
R5662 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
95222102-95230910 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 95228295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 112
(R112C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015841]
[ENSMUST00000015858]
[ENSMUST00000107170]
[ENSMUST00000107171]
[ENSMUST00000129267]
[ENSMUST00000139866]
[ENSMUST00000139498]
|
| 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: R112C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000015858
Gene: ENSMUSG00000015714
AA Change: R112C
| 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 damaging
Transcript: ENSMUST00000129267
AA Change: R112C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121110
Gene: ENSMUSG00000015714
AA Change: R112C
| 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 |
probably damaging
Transcript: ENSMUST00000139866
AA Change: R112C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120190
Gene: ENSMUSG00000015714
AA Change: R112C
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139498
AA Change: R112C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122672
Gene: ENSMUSG00000015714
AA Change: R112C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Homeobox
|
65 |
127 |
5.2e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142398
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154055
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156850
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134702
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
A |
7: 78,749,855 (GRCm39) |
V1542D |
possibly damaging |
Het |
| Acsm4 |
T |
G |
7: 119,294,023 (GRCm39) |
N131K |
possibly damaging |
Het |
| Ankrd54 |
A |
G |
15: 78,946,814 (GRCm39) |
S62P |
possibly damaging |
Het |
| Ccdc186 |
A |
G |
19: 56,781,920 (GRCm39) |
I753T |
probably benign |
Het |
| Col6a4 |
C |
G |
9: 105,945,200 (GRCm39) |
R971S |
probably damaging |
Het |
| Ctsf |
T |
C |
19: 4,906,606 (GRCm39) |
S178P |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,713,525 (GRCm39) |
T492I |
probably benign |
Het |
| Dhx8 |
A |
G |
11: 101,657,584 (GRCm39) |
K1212E |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,956,307 (GRCm39) |
T2096A |
probably damaging |
Het |
| Ephb4 |
A |
T |
5: 137,370,457 (GRCm39) |
I886F |
probably damaging |
Het |
| Eprs1 |
T |
G |
1: 185,126,622 (GRCm39) |
N519K |
possibly damaging |
Het |
| Fam3c |
T |
C |
6: 22,355,061 (GRCm39) |
|
probably benign |
Het |
| Galnt17 |
G |
A |
5: 131,114,844 (GRCm39) |
R219C |
probably damaging |
Het |
| Gm10645 |
A |
G |
8: 83,892,486 (GRCm39) |
|
probably benign |
Het |
| Gpr132 |
G |
A |
12: 112,816,416 (GRCm39) |
R137C |
probably damaging |
Het |
| Hydin |
T |
G |
8: 111,307,341 (GRCm39) |
S3907A |
probably benign |
Het |
| Ighv1-49 |
A |
T |
12: 115,019,027 (GRCm39) |
V56E |
probably damaging |
Het |
| Igtp |
A |
G |
11: 58,097,105 (GRCm39) |
D92G |
probably damaging |
Het |
| Itga1 |
C |
T |
13: 115,122,707 (GRCm39) |
V750I |
probably benign |
Het |
| Katnip |
A |
G |
7: 125,441,875 (GRCm39) |
R595G |
probably benign |
Het |
| Kif3c |
T |
A |
12: 3,417,031 (GRCm39) |
Y351N |
probably damaging |
Het |
| Klhdc1 |
T |
A |
12: 69,329,939 (GRCm39) |
I356N |
probably benign |
Het |
| Lrrc34 |
T |
C |
3: 30,685,473 (GRCm39) |
Y292C |
probably benign |
Het |
| Ly75 |
G |
A |
2: 60,182,725 (GRCm39) |
T526M |
probably damaging |
Het |
| Mroh4 |
A |
T |
15: 74,497,277 (GRCm39) |
D181E |
possibly damaging |
Het |
| Nutm1 |
T |
C |
2: 112,079,645 (GRCm39) |
N757D |
probably benign |
Het |
| Or1e25 |
T |
C |
11: 73,494,005 (GRCm39) |
F200L |
probably benign |
Het |
| Or1m1 |
A |
G |
9: 18,666,896 (GRCm39) |
F12L |
probably damaging |
Het |
| Or6c215 |
T |
C |
10: 129,638,176 (GRCm39) |
T73A |
possibly damaging |
Het |
| Or9s18 |
T |
C |
13: 65,300,067 (GRCm39) |
F10L |
possibly damaging |
Het |
| Paxbp1 |
G |
A |
16: 90,834,285 (GRCm39) |
T167M |
probably benign |
Het |
| Pnpla7 |
A |
G |
2: 24,942,396 (GRCm39) |
D1238G |
probably damaging |
Het |
| Pom121l2 |
T |
C |
13: 22,166,358 (GRCm39) |
S210P |
probably benign |
Het |
| Ripor3 |
T |
G |
2: 167,835,476 (GRCm39) |
N165T |
probably benign |
Het |
| Serpine3 |
T |
G |
14: 62,908,291 (GRCm39) |
S106R |
probably benign |
Het |
| Slc25a11 |
G |
A |
11: 70,536,245 (GRCm39) |
R158* |
probably null |
Het |
| Slc26a6 |
G |
A |
9: 108,736,538 (GRCm39) |
V506M |
possibly damaging |
Het |
| Slc45a2 |
A |
G |
15: 11,022,169 (GRCm39) |
K304E |
probably benign |
Het |
| Slc4a4 |
C |
T |
5: 89,176,103 (GRCm39) |
L25F |
probably damaging |
Het |
| Smarcb1 |
T |
C |
10: 75,740,404 (GRCm39) |
N267S |
possibly damaging |
Het |
| Spink6 |
C |
A |
18: 44,207,481 (GRCm39) |
Q24K |
possibly damaging |
Het |
| Srebf2 |
T |
C |
15: 82,079,204 (GRCm39) |
S811P |
probably benign |
Het |
| Ssc4d |
A |
G |
5: 135,989,748 (GRCm39) |
*587R |
probably null |
Het |
| Sult2a8 |
C |
T |
7: 14,161,765 (GRCm39) |
R27H |
probably benign |
Het |
| Sun2 |
C |
T |
15: 79,623,069 (GRCm39) |
A90T |
probably benign |
Het |
| Ubr7 |
T |
C |
12: 102,734,526 (GRCm39) |
S267P |
probably benign |
Het |
| Wdr55 |
G |
A |
18: 36,893,448 (GRCm39) |
V37M |
possibly damaging |
Het |
| Xdh |
C |
T |
17: 74,248,110 (GRCm39) |
G45S |
probably damaging |
Het |
| Zfp638 |
T |
A |
6: 83,920,111 (GRCm39) |
S570T |
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 |
|
R5821:Cers2
|
UTSW |
3 |
95,229,008 (GRCm39) |
intron |
probably benign |
|
|
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'- CAGATGATTCTGGCAGTTGCTG -3'
(R):5'- GGGAGGATCAACAGTTTCCC -3'
Sequencing Primer
(F):5'- GGTCAGAGTTTGAATGCTTGC -3'
(R):5'- AGTTTCCCACTGCCCCCAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation