Incidental Mutation 'R2397:Ptdss2'
ID |
248556 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptdss2
|
Ensembl Gene |
ENSMUSG00000025495 |
Gene Name |
phosphatidylserine synthase 2 |
Synonyms |
PSS2 |
MMRRC Submission |
040364-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R2397 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
140711181-140736071 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 140727005 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 105
(F105I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026568
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026568]
[ENSMUST00000172479]
[ENSMUST00000172787]
[ENSMUST00000174058]
|
AlphaFold |
Q9Z1X2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026568
AA Change: F105I
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000026568 Gene: ENSMUSG00000025495 AA Change: F105I
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 |
unknown
Transcript: ENSMUST00000172479
AA Change: V39D
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172787
AA Change: F67I
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000133352 Gene: ENSMUSG00000025495 AA Change: F67I
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: ENSMUST00000173572
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173721
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174058
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174373
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210026
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174706
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174612
|
Meta Mutation Damage Score |
0.0734 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
Validation Efficiency |
98% (41/42) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam29 |
T |
A |
8: 56,325,933 (GRCm39) |
M174L |
probably benign |
Het |
Adamtsl1 |
C |
T |
4: 86,117,594 (GRCm39) |
R186W |
probably damaging |
Het |
Agtpbp1 |
C |
T |
13: 59,622,383 (GRCm39) |
V948I |
probably benign |
Het |
Atp13a2 |
A |
G |
4: 140,730,466 (GRCm39) |
T787A |
probably benign |
Het |
Capn11 |
T |
A |
17: 45,964,147 (GRCm39) |
N139I |
probably damaging |
Het |
Cars1 |
T |
C |
7: 143,146,244 (GRCm39) |
D60G |
possibly damaging |
Het |
Cers1 |
A |
T |
8: 70,774,186 (GRCm39) |
I148F |
probably benign |
Het |
Col14a1 |
T |
C |
15: 55,201,835 (GRCm39) |
I41T |
unknown |
Het |
Cyp2d26 |
C |
T |
15: 82,678,236 (GRCm39) |
G47R |
probably damaging |
Het |
Dhx36 |
A |
T |
3: 62,405,518 (GRCm39) |
M205K |
probably benign |
Het |
Dyrk2 |
T |
A |
10: 118,697,273 (GRCm39) |
|
probably benign |
Het |
Echs1 |
T |
C |
7: 139,692,390 (GRCm39) |
H119R |
possibly damaging |
Het |
Ehf |
T |
A |
2: 103,107,164 (GRCm39) |
D120V |
probably damaging |
Het |
Esrra |
A |
G |
19: 6,897,544 (GRCm39) |
L71P |
probably damaging |
Het |
Fam228a |
A |
T |
12: 4,768,718 (GRCm39) |
S200R |
probably benign |
Het |
Fibcd1 |
A |
T |
2: 31,724,435 (GRCm39) |
M191K |
probably benign |
Het |
Foxn4 |
A |
G |
5: 114,393,556 (GRCm39) |
L521P |
probably damaging |
Het |
Fscn2 |
T |
C |
11: 120,252,995 (GRCm39) |
L154P |
probably damaging |
Het |
Gm7964 |
T |
G |
7: 83,406,321 (GRCm39) |
|
noncoding transcript |
Het |
Golga3 |
T |
C |
5: 110,353,743 (GRCm39) |
|
probably benign |
Het |
Gria4 |
A |
G |
9: 4,537,717 (GRCm39) |
L197P |
probably damaging |
Het |
Heg1 |
T |
A |
16: 33,562,849 (GRCm39) |
M913K |
probably damaging |
Het |
Ifi205 |
T |
C |
1: 173,845,141 (GRCm39) |
T214A |
possibly damaging |
Het |
Ift140 |
T |
G |
17: 25,239,710 (GRCm39) |
D122E |
probably damaging |
Het |
Jakmip1 |
T |
A |
5: 37,258,087 (GRCm39) |
D244E |
probably damaging |
Het |
Krt84 |
A |
G |
15: 101,438,689 (GRCm39) |
V266A |
probably benign |
Het |
Mc2r |
T |
A |
18: 68,541,224 (GRCm39) |
D23V |
probably benign |
Het |
Ncr1 |
T |
A |
7: 4,341,260 (GRCm39) |
F47I |
probably benign |
Het |
Nr1h3 |
G |
A |
2: 91,022,202 (GRCm39) |
T142I |
possibly damaging |
Het |
Obox2 |
C |
T |
7: 15,130,971 (GRCm39) |
P68S |
probably benign |
Het |
Pacs2 |
G |
A |
12: 113,026,987 (GRCm39) |
D605N |
probably damaging |
Het |
Parn |
A |
G |
16: 13,384,518 (GRCm39) |
V515A |
probably benign |
Het |
Ruvbl1 |
A |
C |
6: 88,442,534 (GRCm39) |
T9P |
possibly damaging |
Het |
Slc15a3 |
A |
G |
19: 10,820,407 (GRCm39) |
E8G |
probably benign |
Het |
Slf1 |
G |
T |
13: 77,251,702 (GRCm39) |
Y303* |
probably null |
Het |
Socs5 |
T |
C |
17: 87,442,377 (GRCm39) |
F439S |
probably damaging |
Het |
Tcp10c |
C |
A |
17: 13,590,473 (GRCm39) |
A357E |
probably damaging |
Het |
Tmem200c |
T |
C |
17: 69,147,942 (GRCm39) |
V175A |
probably damaging |
Het |
Vmn2r124 |
T |
A |
17: 18,269,859 (GRCm39) |
H38Q |
possibly damaging |
Het |
Vmn2r54 |
T |
G |
7: 12,349,578 (GRCm39) |
Q668P |
probably damaging |
Het |
Xrcc2 |
T |
C |
5: 25,910,708 (GRCm39) |
S3G |
probably null |
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 |
|
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 |
R5158:Ptdss2
|
UTSW |
7 |
140,731,684 (GRCm39) |
missense |
probably benign |
0.16 |
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'- GCAAACGGAGTAAAGGCCTC -3'
(R):5'- ACAGTTTGTGTCTACCCGTGC -3'
Sequencing Primer
(F):5'- GGAAAGCATCTCACATTTCATAGAGG -3'
(R):5'- GTGTCTACCCGTGCTGGTC -3'
|
Posted On |
2014-11-11 |