Incidental Mutation 'R4467:Cds2'
ID |
329217 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cds2
|
Ensembl Gene |
ENSMUSG00000058793 |
Gene Name |
CDP-diacylglycerol synthase 2 |
Synonyms |
D2Wsu127e, 5730450N06Rik, 5730460C18Rik |
MMRRC Submission |
041724-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4467 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
132105068-132153970 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 132136366 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 39
(Y39*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135497
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089461]
[ENSMUST00000103181]
[ENSMUST00000110158]
[ENSMUST00000125060]
[ENSMUST00000147456]
|
AlphaFold |
Q99L43 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000089461
AA Change: I68N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000086886 Gene: ENSMUSG00000058793 AA Change: I68N
Domain | Start | End | E-Value | Type |
Pfam:CTP_transf_1
|
52 |
382 |
5e-90 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103181
AA Change: I85N
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099470 Gene: ENSMUSG00000058793 AA Change: I85N
Domain | Start | End | E-Value | Type |
Pfam:CTP_transf_1
|
69 |
399 |
7.6e-90 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110158
AA Change: I85N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105786 Gene: ENSMUSG00000058793 AA Change: I85N
Domain | Start | End | E-Value | Type |
Pfam:CTP_transf_1
|
69 |
129 |
3.4e-14 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000125060
AA Change: I8N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000147456
AA Change: Y39*
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
98% (52/53) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene display a lethal phenotype. Heterozygotes show a distorted lymphocyte distribution and enhanced sensorimotor gating. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
Atg4a-ps |
A |
G |
3: 103,553,171 (GRCm39) |
Y57H |
probably damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Bms1 |
G |
A |
6: 118,360,808 (GRCm39) |
T1220I |
probably damaging |
Het |
Brat1 |
T |
C |
5: 140,690,826 (GRCm39) |
|
probably benign |
Het |
Chrnd |
T |
A |
1: 87,125,099 (GRCm39) |
L384Q |
probably damaging |
Het |
Cpa3 |
A |
T |
3: 20,282,981 (GRCm39) |
Y155* |
probably null |
Het |
Crlf1 |
G |
A |
8: 70,953,606 (GRCm39) |
W260* |
probably null |
Het |
Cux1 |
C |
G |
5: 136,341,576 (GRCm39) |
E605D |
probably damaging |
Het |
Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
Dmtf1 |
T |
C |
5: 9,186,085 (GRCm39) |
N167S |
probably damaging |
Het |
Dnaaf9 |
A |
G |
2: 130,609,567 (GRCm39) |
I372T |
probably damaging |
Het |
Dnai7 |
A |
T |
6: 145,128,944 (GRCm39) |
|
probably null |
Het |
Dtx2 |
T |
A |
5: 136,040,930 (GRCm39) |
W112R |
probably damaging |
Het |
Elf3 |
A |
G |
1: 135,184,582 (GRCm39) |
I138T |
probably damaging |
Het |
F11 |
T |
A |
8: 45,694,511 (GRCm39) |
I617F |
probably damaging |
Het |
Fdps |
A |
T |
3: 89,008,093 (GRCm39) |
D8E |
possibly damaging |
Het |
Fzd10 |
C |
A |
5: 128,678,340 (GRCm39) |
T20K |
probably benign |
Het |
Gm9978 |
T |
A |
10: 78,322,750 (GRCm39) |
|
noncoding transcript |
Het |
Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
Has1 |
C |
T |
17: 18,064,257 (GRCm39) |
V461M |
probably benign |
Het |
Hdac3 |
C |
T |
18: 38,085,566 (GRCm39) |
G80D |
probably benign |
Het |
Klk12 |
A |
T |
7: 43,422,807 (GRCm39) |
R245W |
probably damaging |
Het |
Lamp5 |
A |
G |
2: 135,900,940 (GRCm39) |
I47V |
probably damaging |
Het |
Or6c1b |
T |
C |
10: 129,272,933 (GRCm39) |
I84T |
probably benign |
Het |
Ovgp1 |
A |
G |
3: 105,885,027 (GRCm39) |
D122G |
probably benign |
Het |
Piezo1 |
T |
C |
8: 123,213,135 (GRCm39) |
E1875G |
probably benign |
Het |
Pih1d1 |
A |
G |
7: 44,807,921 (GRCm39) |
M132V |
possibly damaging |
Het |
Pon2 |
C |
T |
6: 5,267,021 (GRCm39) |
A241T |
probably benign |
Het |
Prkce |
A |
G |
17: 86,927,339 (GRCm39) |
I538V |
possibly damaging |
Het |
Rab36 |
C |
T |
10: 74,887,875 (GRCm39) |
R249* |
probably null |
Het |
Rps6kl1 |
C |
T |
12: 85,194,582 (GRCm39) |
A110T |
probably damaging |
Het |
Rsad1 |
T |
C |
11: 94,435,356 (GRCm39) |
T244A |
probably benign |
Het |
Slc22a7 |
T |
C |
17: 46,743,436 (GRCm39) |
I532V |
probably benign |
Het |
Slc2a7 |
T |
C |
4: 150,247,731 (GRCm39) |
V377A |
possibly damaging |
Het |
Slx4 |
A |
G |
16: 3,806,919 (GRCm39) |
V508A |
possibly damaging |
Het |
Stag2 |
A |
G |
X: 41,322,749 (GRCm39) |
S400G |
probably benign |
Het |
Stat6 |
T |
G |
10: 127,487,097 (GRCm39) |
I201M |
probably damaging |
Het |
Stim2 |
T |
C |
5: 54,273,536 (GRCm39) |
|
probably null |
Het |
Tbc1d9 |
A |
G |
8: 83,937,107 (GRCm39) |
Y63C |
probably damaging |
Het |
Tctn2 |
T |
C |
5: 124,758,252 (GRCm39) |
|
noncoding transcript |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Ubr5 |
T |
A |
15: 38,004,580 (GRCm39) |
T1282S |
probably damaging |
Het |
Ufl1 |
A |
T |
4: 25,254,806 (GRCm39) |
I550N |
probably damaging |
Het |
Uty |
A |
G |
Y: 1,158,372 (GRCm39) |
V557A |
possibly damaging |
Het |
Vmn1r54 |
T |
C |
6: 90,246,253 (GRCm39) |
S56P |
probably damaging |
Het |
Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
probably benign |
Het |
|
Other mutations in Cds2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00433:Cds2
|
APN |
2 |
132,139,213 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00434:Cds2
|
APN |
2 |
132,135,271 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00771:Cds2
|
APN |
2 |
132,146,272 (GRCm39) |
splice site |
probably benign |
|
IGL00984:Cds2
|
APN |
2 |
132,140,441 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02041:Cds2
|
APN |
2 |
132,136,363 (GRCm39) |
missense |
possibly damaging |
0.94 |
sugarless
|
UTSW |
2 |
132,140,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R0045:Cds2
|
UTSW |
2 |
132,147,075 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0045:Cds2
|
UTSW |
2 |
132,147,075 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0452:Cds2
|
UTSW |
2 |
132,140,399 (GRCm39) |
missense |
probably damaging |
0.99 |
R0455:Cds2
|
UTSW |
2 |
132,127,887 (GRCm39) |
critical splice donor site |
probably null |
|
R0593:Cds2
|
UTSW |
2 |
132,139,296 (GRCm39) |
unclassified |
probably benign |
|
R0831:Cds2
|
UTSW |
2 |
132,127,887 (GRCm39) |
critical splice donor site |
probably null |
|
R1053:Cds2
|
UTSW |
2 |
132,147,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R1669:Cds2
|
UTSW |
2 |
132,137,439 (GRCm39) |
splice site |
probably null |
|
R1740:Cds2
|
UTSW |
2 |
132,144,133 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1859:Cds2
|
UTSW |
2 |
132,144,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R4125:Cds2
|
UTSW |
2 |
132,139,191 (GRCm39) |
missense |
probably benign |
0.00 |
R4126:Cds2
|
UTSW |
2 |
132,139,191 (GRCm39) |
missense |
probably benign |
0.00 |
R4128:Cds2
|
UTSW |
2 |
132,139,191 (GRCm39) |
missense |
probably benign |
0.00 |
R4352:Cds2
|
UTSW |
2 |
132,105,365 (GRCm39) |
start codon destroyed |
probably null |
0.37 |
R4698:Cds2
|
UTSW |
2 |
132,146,873 (GRCm39) |
missense |
probably damaging |
0.97 |
R4704:Cds2
|
UTSW |
2 |
132,142,522 (GRCm39) |
nonsense |
probably null |
|
R4917:Cds2
|
UTSW |
2 |
132,140,398 (GRCm39) |
missense |
probably damaging |
0.98 |
R5070:Cds2
|
UTSW |
2 |
132,144,008 (GRCm39) |
nonsense |
probably null |
|
R5199:Cds2
|
UTSW |
2 |
132,140,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R5431:Cds2
|
UTSW |
2 |
132,144,090 (GRCm39) |
missense |
probably benign |
0.28 |
R5704:Cds2
|
UTSW |
2 |
132,135,249 (GRCm39) |
missense |
probably benign |
0.01 |
R5858:Cds2
|
UTSW |
2 |
132,144,033 (GRCm39) |
missense |
probably benign |
0.00 |
R5946:Cds2
|
UTSW |
2 |
132,139,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R5954:Cds2
|
UTSW |
2 |
132,139,191 (GRCm39) |
missense |
probably benign |
0.00 |
R7195:Cds2
|
UTSW |
2 |
132,135,204 (GRCm39) |
missense |
probably benign |
0.28 |
R7234:Cds2
|
UTSW |
2 |
132,146,400 (GRCm39) |
critical splice donor site |
probably null |
|
R7413:Cds2
|
UTSW |
2 |
132,135,235 (GRCm39) |
missense |
probably benign |
0.03 |
R7983:Cds2
|
UTSW |
2 |
132,105,430 (GRCm39) |
splice site |
probably null |
|
R9036:Cds2
|
UTSW |
2 |
132,139,614 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTGCTAGTGGCTTCTGCAC -3'
(R):5'- GGTTCTGAGAAACCTGGAGC -3'
Sequencing Primer
(F):5'- TTCTGCACCTGCTGAGTGACAG -3'
(R):5'- TTCTGAGAAACCTGGAGCTCCAAAG -3'
|
Posted On |
2015-07-21 |