Incidental Mutation 'R5158:Ptdss2'
| ID |
396834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptdss2
|
| Ensembl Gene |
ENSMUSG00000025495 |
| Gene Name |
phosphatidylserine synthase 2 |
| Synonyms |
PSS2 |
| MMRRC Submission |
042740-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R5158 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140711181-140736071 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140731684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 164
(F164S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026568]
[ENSMUST00000172479]
[ENSMUST00000172787]
[ENSMUST00000209928]
|
| AlphaFold |
Q9Z1X2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026568
AA Change: F164S
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000026568
Gene: ENSMUSG00000025495
AA Change: F164S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
transmembrane domain
|
73 |
90 |
N/A |
INTRINSIC |
|
Pfam:PSS
|
98 |
378 |
1.8e-113 |
PFAM |
|
transmembrane domain
|
388 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
459 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172479
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172787
AA Change: F126S
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000133352
Gene: ENSMUSG00000025495
AA Change: F126S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
35 |
52 |
N/A |
INTRINSIC |
|
Pfam:PSS
|
60 |
191 |
7.3e-60 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174373
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174612
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174706
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209928
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the conversion of phosphatidylethanolamine to phosphatidylserine, a structural membrane phospholipid that functions in cell signaling, blood coagulation, and apoptosis. The encoded enzyme also has a high affinity for docosahexaenoic acid (DHA) and can use it to make DHA-containing phosphatidylserine. [provided by RefSeq, Jul 2016]
PHENOTYPE: Disruption of this gene causes infertility in about 10% of homozygous males. The remaining males and all females were fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
C |
T |
17: 45,825,755 (GRCm39) |
T357I |
probably benign |
Het |
| Abca14 |
A |
T |
7: 119,852,652 (GRCm39) |
R872S |
probably benign |
Het |
| Adnp2 |
A |
G |
18: 80,180,758 (GRCm39) |
Y47H |
probably damaging |
Het |
| Atp6v0d2 |
T |
C |
4: 19,878,292 (GRCm39) |
N327S |
probably damaging |
Het |
| Ccdc190 |
A |
G |
1: 169,760,578 (GRCm39) |
R69G |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,901,059 (GRCm39) |
D213G |
probably damaging |
Het |
| Clcn4 |
G |
A |
7: 7,294,618 (GRCm39) |
T381I |
possibly damaging |
Het |
| Cobl |
A |
G |
11: 12,206,198 (GRCm39) |
F477S |
possibly damaging |
Het |
| Ctdspl2 |
T |
A |
2: 121,811,774 (GRCm39) |
V205E |
probably benign |
Het |
| Dhx37 |
A |
T |
5: 125,492,216 (GRCm39) |
Y1128N |
probably damaging |
Het |
| Ehmt2 |
G |
A |
17: 35,130,640 (GRCm39) |
E1085K |
probably damaging |
Het |
| Fam149a |
T |
G |
8: 45,803,472 (GRCm39) |
I340L |
possibly damaging |
Het |
| Fut9 |
T |
A |
4: 25,620,731 (GRCm39) |
I28F |
probably benign |
Het |
| Il36g |
T |
A |
2: 24,082,798 (GRCm39) |
I191K |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,392,816 (GRCm39) |
N716D |
probably benign |
Het |
| Itgb7 |
T |
C |
15: 102,125,464 (GRCm39) |
D672G |
probably benign |
Het |
| Kat6b |
A |
G |
14: 21,720,054 (GRCm39) |
M1469V |
possibly damaging |
Het |
| Kif3a |
T |
C |
11: 53,479,578 (GRCm39) |
F430L |
probably benign |
Het |
| L3mbtl3 |
T |
C |
10: 26,179,586 (GRCm39) |
D523G |
unknown |
Het |
| Mcf2l |
A |
G |
8: 13,059,715 (GRCm39) |
Q736R |
probably damaging |
Het |
| Mpl |
T |
G |
4: 118,313,881 (GRCm39) |
D128A |
probably damaging |
Het |
| Myom3 |
T |
A |
4: 135,492,897 (GRCm39) |
C149S |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,965,805 (GRCm39) |
I1285V |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,753,149 (GRCm39) |
Q279R |
probably damaging |
Het |
| Ndc1 |
T |
G |
4: 107,232,362 (GRCm39) |
S182R |
probably damaging |
Het |
| Ngf |
A |
T |
3: 102,427,445 (GRCm39) |
M65L |
possibly damaging |
Het |
| Or2n1 |
T |
A |
17: 38,486,345 (GRCm39) |
Y123* |
probably null |
Het |
| Pigb |
T |
C |
9: 72,929,683 (GRCm39) |
Y300C |
probably damaging |
Het |
| Pla2g2a |
T |
G |
4: 138,560,595 (GRCm39) |
*69G |
probably null |
Het |
| Ppp1r12b |
T |
C |
1: 134,814,166 (GRCm39) |
E379G |
probably damaging |
Het |
| Ptprc |
T |
C |
1: 138,102,822 (GRCm39) |
T2A |
possibly damaging |
Het |
| Ptprq |
T |
A |
10: 107,370,565 (GRCm39) |
N2042I |
probably damaging |
Het |
| Rdh10 |
A |
T |
1: 16,178,221 (GRCm39) |
R164S |
probably damaging |
Het |
| Sec31a |
A |
T |
5: 100,541,180 (GRCm39) |
I309N |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,599,409 (GRCm39) |
I710N |
unknown |
Het |
| Slc25a30 |
A |
T |
14: 76,008,956 (GRCm39) |
L26Q |
probably damaging |
Het |
| Sptan1 |
G |
A |
2: 29,868,455 (GRCm39) |
V34I |
probably damaging |
Het |
| Sult1e1 |
A |
T |
5: 87,735,453 (GRCm39) |
I75N |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,951,885 (GRCm39) |
V938A |
probably benign |
Het |
| Vps16 |
C |
T |
2: 130,283,199 (GRCm39) |
R531C |
probably damaging |
Het |
| Zbtb22 |
C |
T |
17: 34,137,423 (GRCm39) |
H523Y |
probably damaging |
Het |
| Zfp39 |
G |
A |
11: 58,780,671 (GRCm39) |
T697M |
possibly damaging |
Het |
|
| Other mutations in Ptdss2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00673:Ptdss2
|
APN |
7 |
140,723,038 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL01860:Ptdss2
|
APN |
7 |
140,732,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01966:Ptdss2
|
APN |
7 |
140,715,304 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02606:Ptdss2
|
APN |
7 |
140,732,911 (GRCm39) |
nonsense |
probably null |
|
|
R0105:Ptdss2
|
UTSW |
7 |
140,732,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0138:Ptdss2
|
UTSW |
7 |
140,735,232 (GRCm39) |
splice site |
probably benign |
|
|
R0503:Ptdss2
|
UTSW |
7 |
140,731,710 (GRCm39) |
unclassified |
probably benign |
|
|
R2397:Ptdss2
|
UTSW |
7 |
140,727,005 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3120:Ptdss2
|
UTSW |
7 |
140,732,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4519:Ptdss2
|
UTSW |
7 |
140,734,491 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4728:Ptdss2
|
UTSW |
7 |
140,734,372 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6186:Ptdss2
|
UTSW |
7 |
140,734,862 (GRCm39) |
unclassified |
probably benign |
|
|
R6464:Ptdss2
|
UTSW |
7 |
140,732,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6580:Ptdss2
|
UTSW |
7 |
140,732,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7290:Ptdss2
|
UTSW |
7 |
140,731,693 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7307:Ptdss2
|
UTSW |
7 |
140,731,645 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7444:Ptdss2
|
UTSW |
7 |
140,732,997 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9048:Ptdss2
|
UTSW |
7 |
140,732,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9224:Ptdss2
|
UTSW |
7 |
140,734,798 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCAGGCTGCCTTGCTAAG -3'
(R):5'- GTGTGCTGCTTCAGATGACC -3'
Sequencing Primer
(F):5'- TTGCTAAGCCTCACCACACTAATG -3'
(R):5'- TGCTTCAGATGACCACACTGG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation