Incidental Mutation 'R5199:Cds2'
| ID |
400543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cds2
|
| Ensembl Gene |
ENSMUSG00000058793 |
| Gene Name |
CDP-diacylglycerol synthase 2 |
| Synonyms |
D2Wsu127e, 5730450N06Rik, 5730460C18Rik |
| MMRRC Submission |
042775-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5199 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
132105068-132153970 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 132140403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 200
(H200Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099470
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089461]
[ENSMUST00000103181]
[ENSMUST00000110158]
[ENSMUST00000125060]
[ENSMUST00000147456]
|
| AlphaFold |
Q99L43 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089461
AA Change: H183Q
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000086886
Gene: ENSMUSG00000058793
AA Change: H183Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_1
|
52 |
382 |
5e-90 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103181
AA Change: H200Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099470
Gene: ENSMUSG00000058793
AA Change: H200Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_1
|
69 |
399 |
7.6e-90 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110158
|
| SMART Domains |
Protein: ENSMUSP00000105786
Gene: ENSMUSG00000058793
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_1
|
69 |
129 |
3.4e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125060
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138194
|
| SMART Domains |
Protein: ENSMUSP00000121769
Gene: ENSMUSG00000058793
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_1
|
3 |
126 |
8.7e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147456
|
| Meta Mutation Damage Score |
0.8832 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (57/57) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
T |
C |
3: 59,843,906 (GRCm39) |
L200P |
probably damaging |
Het |
| Adam1a |
T |
C |
5: 121,659,215 (GRCm39) |
E26G |
probably benign |
Het |
| Adar |
T |
A |
3: 89,653,251 (GRCm39) |
M797K |
probably damaging |
Het |
| Amdhd1 |
A |
T |
10: 93,361,847 (GRCm39) |
C352S |
probably damaging |
Het |
| AW554918 |
C |
A |
18: 25,473,356 (GRCm39) |
R387S |
probably damaging |
Het |
| Cabp1 |
A |
G |
5: 115,324,102 (GRCm39) |
V5A |
possibly damaging |
Het |
| Carmil1 |
A |
G |
13: 24,295,853 (GRCm39) |
L387P |
probably damaging |
Het |
| Cep170b |
T |
A |
12: 112,710,581 (GRCm39) |
L1470Q |
probably damaging |
Het |
| Cnnm1 |
A |
G |
19: 43,483,425 (GRCm39) |
D956G |
possibly damaging |
Het |
| Cnot8 |
C |
T |
11: 58,006,100 (GRCm39) |
Q210* |
probably null |
Het |
| Cpne8 |
G |
A |
15: 90,532,812 (GRCm39) |
T65I |
probably benign |
Het |
| Crygn |
A |
G |
5: 24,961,156 (GRCm39) |
V50A |
probably damaging |
Het |
| Cxcr4 |
A |
G |
1: 128,517,283 (GRCm39) |
V126A |
probably damaging |
Het |
| Cyp4f15 |
A |
G |
17: 32,921,346 (GRCm39) |
D464G |
probably benign |
Het |
| Dapp1 |
C |
T |
3: 137,687,146 (GRCm39) |
S12N |
probably benign |
Het |
| Dhps |
G |
A |
8: 85,800,035 (GRCm39) |
G162R |
probably damaging |
Het |
| Dsp |
T |
G |
13: 38,376,878 (GRCm39) |
Y1554* |
probably null |
Het |
| Etl4 |
G |
T |
2: 20,748,853 (GRCm39) |
R397L |
probably damaging |
Het |
| Ezh2 |
C |
T |
6: 47,528,659 (GRCm39) |
C291Y |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,231,678 (GRCm39) |
S303G |
probably benign |
Het |
| Gm11444 |
A |
C |
11: 85,738,845 (GRCm39) |
S83A |
unknown |
Het |
| Gpat4 |
A |
G |
8: 23,672,712 (GRCm39) |
V46A |
possibly damaging |
Het |
| Haus6 |
T |
C |
4: 86,501,222 (GRCm39) |
D883G |
possibly damaging |
Het |
| Hinfp |
T |
C |
9: 44,207,689 (GRCm39) |
E439G |
probably benign |
Het |
| Ifna14 |
T |
A |
4: 88,489,599 (GRCm39) |
Y146F |
probably damaging |
Het |
| Igkv3-3 |
A |
T |
6: 70,664,488 (GRCm39) |
Y110F |
probably damaging |
Het |
| Kansl2-ps |
A |
G |
7: 72,322,942 (GRCm39) |
|
noncoding transcript |
Het |
| Klrh1 |
T |
A |
6: 129,752,781 (GRCm39) |
Y8F |
possibly damaging |
Het |
| Mcmdc2 |
T |
C |
1: 9,990,660 (GRCm39) |
V279A |
probably benign |
Het |
| Mug2 |
T |
A |
6: 122,017,619 (GRCm39) |
V452D |
probably benign |
Het |
| Ndufb3 |
C |
G |
1: 58,630,281 (GRCm39) |
|
probably benign |
Het |
| Oas1d |
G |
T |
5: 121,057,208 (GRCm39) |
K271N |
probably benign |
Het |
| Or4c110 |
T |
A |
2: 88,832,107 (GRCm39) |
H175L |
possibly damaging |
Het |
| Or5ac21 |
T |
A |
16: 59,124,103 (GRCm39) |
F196I |
probably benign |
Het |
| Or9g3 |
A |
G |
2: 85,590,558 (GRCm39) |
L54P |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcnt |
T |
A |
10: 76,254,378 (GRCm39) |
H817L |
probably benign |
Het |
| Per3 |
G |
T |
4: 151,097,352 (GRCm39) |
S724R |
probably benign |
Het |
| Phlpp1 |
T |
A |
1: 106,101,124 (GRCm39) |
V464E |
probably damaging |
Het |
| Psme4 |
A |
G |
11: 30,803,272 (GRCm39) |
E38G |
probably benign |
Het |
| Qtrt2 |
T |
C |
16: 43,687,788 (GRCm39) |
N264S |
probably benign |
Het |
| Ranbp2 |
G |
A |
10: 58,300,265 (GRCm39) |
R557H |
probably benign |
Het |
| Rptor |
T |
A |
11: 119,494,642 (GRCm39) |
S3T |
probably benign |
Het |
| Saxo1 |
T |
A |
4: 86,406,019 (GRCm39) |
Y60F |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,985,564 (GRCm39) |
V30A |
probably benign |
Het |
| Tmem245 |
G |
A |
4: 56,925,149 (GRCm39) |
S324L |
probably benign |
Het |
| Topbp1 |
A |
G |
9: 103,223,871 (GRCm39) |
|
probably benign |
Het |
| Urb1 |
T |
C |
16: 90,589,636 (GRCm39) |
T382A |
possibly damaging |
Het |
| Vmn1r178 |
A |
T |
7: 23,593,814 (GRCm39) |
L214F |
probably benign |
Het |
| Vmn2r82 |
G |
A |
10: 79,231,921 (GRCm39) |
C640Y |
probably damaging |
Het |
| Vsx2 |
A |
G |
12: 84,639,984 (GRCm39) |
D281G |
probably benign |
Het |
| Zfp804b |
A |
T |
5: 6,820,013 (GRCm39) |
C1017S |
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 |
|
R4467:Cds2
|
UTSW |
2 |
132,136,366 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
|
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'- ACTCACTGCTTGGGTACAGAC -3'
(R):5'- GCCCACAGGAACTTCTGATAG -3'
Sequencing Primer
(F):5'- CAGGCATGCATTGTCCATG -3'
(R):5'- GAACTTCTGATAGGTGGAAAGCTTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation