Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00673:Ptdss2'

13207

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptdss2

Ensembl Gene

ENSMUSG00000025495

Gene Name

phosphatidylserine synthase 2

Synonyms

PSS2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

IGL00673

Quality Score

Status

Chromosome

Chromosomal Location

140711181-140736071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 140723038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 84 (C84F)

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: C84F

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000026568
Gene: ENSMUSG00000025495
AA Change: C84F

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: C46F

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000133352
Gene: ENSMUSG00000025495
AA Change: C46F

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: ENSMUST00000174706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210026

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174612

Coding Region Coverage

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	T	C	9: 90,075,714 (GRCm39)	S1191P	possibly damaging	Het
Alg2	C	T	4: 47,472,329 (GRCm39)	D160N	probably damaging	Het
Cd177	A	T	7: 24,451,442 (GRCm39)	F487Y	possibly damaging	Het
Cdc27	A	G	11: 104,419,261 (GRCm39)	Y224H	probably damaging	Het
Cdhr1	A	G	14: 36,807,485 (GRCm39)	V385A	probably benign	Het
Cep128	G	T	12: 91,200,965 (GRCm39)	H31Q	probably benign	Het
Ehd4	A	G	2: 119,932,701 (GRCm39)	S242P	probably damaging	Het
Esco1	A	G	18: 10,582,078 (GRCm39)	F647L	probably damaging	Het
Itgbl1	C	T	14: 124,083,844 (GRCm39)		probably benign	Het
Kcnj3	G	T	2: 55,485,284 (GRCm39)	D461Y	possibly damaging	Het
Kcnq3	G	A	15: 65,867,120 (GRCm39)	T841M	probably damaging	Het
Kcnt2	T	G	1: 140,523,789 (GRCm39)	N1103K	possibly damaging	Het
Mib1	A	G	18: 10,798,490 (GRCm39)	S784G	probably benign	Het
Miga2	T	G	2: 30,257,729 (GRCm39)	M9R	probably benign	Het
Pals1	C	A	12: 78,876,573 (GRCm39)	R506S	possibly damaging	Het
Prl2a1	T	C	13: 27,992,436 (GRCm39)	S187P	probably damaging	Het
Psg28	A	G	7: 18,161,816 (GRCm39)	V229A	probably damaging	Het
Recql	T	A	6: 142,322,647 (GRCm39)	N85I	probably null	Het
Tex47	A	T	5: 7,355,211 (GRCm39)	I131F	probably damaging	Het
Tlk1	G	T	2: 70,575,860 (GRCm39)	Q323K	probably damaging	Het

Other mutations in Ptdss2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06