Incidental Mutation 'R3120:Ptdss2'
| ID |
263174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptdss2
|
| Ensembl Gene |
ENSMUSG00000025495 |
| Gene Name |
phosphatidylserine synthase 2 |
| Synonyms |
PSS2 |
| MMRRC Submission |
040593-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R3120 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140711181-140736071 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 140732132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 140
(H140Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133352
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026568]
[ENSMUST00000172479]
[ENSMUST00000172787]
[ENSMUST00000209928]
|
| AlphaFold |
Q9Z1X2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026568
AA Change: H178Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026568
Gene: ENSMUSG00000025495
AA Change: H178Y
| 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 damaging
Transcript: ENSMUST00000172787
AA Change: H140Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133352
Gene: ENSMUSG00000025495
AA Change: H140Y
| 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: ENSMUST00000174706
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209928
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bsx |
A |
G |
9: 40,788,908 (GRCm39) |
K155R |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,891,987 (GRCm39) |
K162E |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dnah1 |
G |
A |
14: 30,988,779 (GRCm39) |
R3351* |
probably null |
Het |
| Eml1 |
A |
G |
12: 108,479,312 (GRCm39) |
R362G |
probably benign |
Het |
| Fam222b |
T |
C |
11: 78,044,742 (GRCm39) |
L101P |
probably damaging |
Het |
| Fars2 |
A |
G |
13: 36,430,400 (GRCm39) |
E276G |
probably damaging |
Het |
| Gatad1 |
G |
T |
5: 3,691,456 (GRCm39) |
Y33* |
probably null |
Het |
| Gclc |
A |
C |
9: 77,688,552 (GRCm39) |
E219A |
possibly damaging |
Het |
| Gm4846 |
A |
G |
1: 166,319,117 (GRCm39) |
V207A |
probably benign |
Het |
| H1f5 |
A |
T |
13: 21,964,215 (GRCm39) |
S170R |
probably benign |
Het |
| Hbq1a |
T |
C |
11: 32,250,472 (GRCm39) |
L87P |
probably damaging |
Het |
| Magea6 |
A |
T |
X: 153,707,291 (GRCm39) |
I255N |
probably benign |
Het |
| Mfsd12 |
T |
G |
10: 81,197,049 (GRCm39) |
V206G |
probably benign |
Het |
| Mis18bp1 |
T |
C |
12: 65,203,762 (GRCm39) |
|
probably null |
Het |
| Nf1 |
C |
A |
11: 79,455,725 (GRCm39) |
T550K |
probably damaging |
Het |
| Nlrp4f |
T |
C |
13: 65,342,530 (GRCm39) |
T372A |
probably benign |
Het |
| Or5p70 |
T |
C |
7: 107,994,930 (GRCm39) |
I201T |
possibly damaging |
Het |
| Pkdcc |
T |
C |
17: 83,527,466 (GRCm39) |
Y215H |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,537,367 (GRCm39) |
T253A |
probably benign |
Het |
| Polr2f |
T |
A |
15: 79,028,788 (GRCm39) |
|
probably null |
Het |
| Prph2 |
C |
T |
17: 47,234,298 (GRCm39) |
A289V |
possibly damaging |
Het |
| Rlf |
T |
A |
4: 121,006,680 (GRCm39) |
I877L |
probably benign |
Het |
| Scgb2b2 |
T |
C |
7: 31,003,001 (GRCm39) |
L32S |
possibly damaging |
Het |
| Sfpq |
T |
A |
4: 126,915,926 (GRCm39) |
H239Q |
unknown |
Het |
| St6gal2 |
A |
T |
17: 55,789,111 (GRCm39) |
R48S |
probably benign |
Het |
| Sybu |
T |
C |
15: 44,536,355 (GRCm39) |
D657G |
possibly damaging |
Het |
| Syt15 |
A |
G |
14: 33,944,950 (GRCm39) |
I166V |
probably benign |
Het |
| Taar7f |
C |
A |
10: 23,925,478 (GRCm39) |
T24K |
probably benign |
Het |
| Tbcd |
T |
C |
11: 121,499,474 (GRCm39) |
S1093P |
probably damaging |
Het |
| Tfap2c |
G |
A |
2: 172,399,015 (GRCm39) |
V396M |
possibly damaging |
Het |
| Tnxb |
C |
T |
17: 34,911,329 (GRCm39) |
T1544I |
possibly damaging |
Het |
| Trim28 |
A |
G |
7: 12,762,341 (GRCm39) |
T322A |
probably damaging |
Het |
| Tubgcp3 |
G |
A |
8: 12,707,626 (GRCm39) |
A121V |
possibly damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,372,431 (GRCm39) |
W20R |
probably null |
Het |
| Zfp551 |
A |
G |
7: 12,149,943 (GRCm39) |
F489L |
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 |
|
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'- GGTCATCTGAAGCAGCACAC -3'
(R):5'- CCTGAGAAACTGCAAGTCTCTGG -3'
Sequencing Primer
(F):5'- CATCAGCCTGGAGGGTTG -3'
(R):5'- GAAACTGCAAGTCTCTGGTATCTTAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation