Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02606:Ptdss2'

300268

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptdss2

Ensembl Gene

ENSMUSG00000025495

Gene Name

phosphatidylserine synthase 2

Synonyms

PSS2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

IGL02606

Quality Score

Status

Chromosome

Chromosomal Location

141122382-141157606 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 141152998 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 231 (C231*)

Ref Sequence

ENSEMBL: ENSMUSP00000026568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026568] [ENSMUST00000172479] [ENSMUST00000172787] [ENSMUST00000209928]

Predicted Effect

probably null
Transcript: ENSMUST00000026568
AA Change: C231*

SMART Domains

Protein: ENSMUSP00000026568
Gene: ENSMUSG00000025495
AA Change: C231*

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

SMART Domains

Protein: ENSMUSP00000133352
Gene: ENSMUSG00000025495

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

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,242,781	N74I	probably benign	Het
Abr	T	C	11: 76,479,164	K75R	probably damaging	Het
Adcy10	A	C	1: 165,519,518	D368A	possibly damaging	Het
Alas1	A	G	9: 106,241,110		probably benign	Het
Alms1	T	A	6: 85,599,967	D168E	probably benign	Het
Ankar	C	T	1: 72,690,285	A82T	possibly damaging	Het
Atp2c2	C	T	8: 119,730,274	T205I	probably benign	Het
Atp9a	A	T	2: 168,652,668	L639Q	probably damaging	Het
Btf3l4	T	C	4: 108,818,214	D134G	probably benign	Het
Cacna1s	T	C	1: 136,079,519	C425R	probably damaging	Het
Ccdc105	A	G	10: 78,748,466	Y372H	probably benign	Het
Cct6b	G	T	11: 82,736,445	T322N	probably damaging	Het
Col19a1	G	A	1: 24,534,116	R192*	probably null	Het
Cyp8b1	A	T	9: 121,915,735	F177Y	probably damaging	Het
Dnajc11	T	A	4: 151,979,484	N474K	probably benign	Het
Dusp16	T	C	6: 134,761,036	E13G	probably damaging	Het
Ephx2	T	C	14: 66,086,292	N397S	probably damaging	Het
Fancm	T	C	12: 65,076,139	V145A	possibly damaging	Het
Fiz1	A	G	7: 5,009,159	L120P	possibly damaging	Het
Galnt6	C	T	15: 100,714,219	V181M	probably damaging	Het
Ginm1	A	G	10: 7,770,399	V279A	probably damaging	Het
Gja10	T	G	4: 32,601,509	I292L	probably benign	Het
Gnb3	T	C	6: 124,837,415	S136G	probably benign	Het
Gramd1a	A	T	7: 31,134,515	V495E	probably damaging	Het
Il1rn	G	T	2: 24,345,450		probably benign	Het
Itpr3	A	G	17: 27,114,512		probably benign	Het
Kctd1	A	G	18: 15,062,880	S229P	possibly damaging	Het
Kdm4a	T	C	4: 118,160,289	T527A	probably benign	Het
Kif14	C	T	1: 136,496,593	A982V	probably damaging	Het
Klf6	A	G	13: 5,866,735	K293R	probably damaging	Het
Letmd1	A	G	15: 100,475,091	D92G	probably damaging	Het
Lmod1	G	A	1: 135,364,480	V358M	probably benign	Het
Ndufs1	A	T	1: 63,159,852	D295E	probably damaging	Het
Nek4	A	G	14: 30,963,959	N283S	probably benign	Het
Nhsl1	A	G	10: 18,511,637	T220A	probably damaging	Het
Nucks1	T	A	1: 131,924,625	D71E	probably damaging	Het
Olfr1537	C	A	9: 39,238,194	V77F	probably damaging	Het
Olfr732	T	C	14: 50,282,073	Y60C	probably damaging	Het
Pkhd1l1	A	G	15: 44,589,456	T3926A	probably benign	Het
Pptc7	T	A	5: 122,313,588		probably benign	Het
Prdm11	A	G	2: 92,975,603	V334A	probably benign	Het
R3hdm1	C	T	1: 128,190,719	P570S	probably benign	Het
Rlbp1	T	C	7: 79,377,289	T208A	possibly damaging	Het
Rnaseh2a	T	G	8: 84,960,094	D142A	probably damaging	Het
Rufy4	C	T	1: 74,133,350		probably benign	Het
Tmem56	G	T	3: 121,228,364	D128E	possibly damaging	Het
Ttn	A	G	2: 76,816,221	I11081T	possibly damaging	Het
Ubap2l	A	T	3: 90,038,428	S173R	probably damaging	Het
Vmn1r80	A	G	7: 12,193,032	N23S	probably damaging	Het
Vwce	C	A	19: 10,655,348		probably benign	Het

Other mutations in Ptdss2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Ptdss2	APN	7	141143125	missense	probably benign	0.35
IGL01860:Ptdss2	APN	7	141152836	missense	probably damaging	1.00
IGL01966:Ptdss2	APN	7	141135391	missense	possibly damaging	0.66
R0105:Ptdss2	UTSW	7	141152880	missense	probably damaging	1.00
R0138:Ptdss2	UTSW	7	141155319	splice site	probably benign
R0503:Ptdss2	UTSW	7	141151797	unclassified	probably benign
R2397:Ptdss2	UTSW	7	141147092	missense	probably benign	0.02
R3120:Ptdss2	UTSW	7	141152219	missense	probably damaging	1.00
R4519:Ptdss2	UTSW	7	141154578	missense	probably benign	0.30
R4728:Ptdss2	UTSW	7	141154459	missense	probably benign	0.30
R5158:Ptdss2	UTSW	7	141151771	missense	probably benign	0.16
R6186:Ptdss2	UTSW	7	141154949	unclassified	probably benign
R6464:Ptdss2	UTSW	7	141152211	missense	probably damaging	1.00
R6580:Ptdss2	UTSW	7	141153012	missense	probably damaging	1.00
R7290:Ptdss2	UTSW	7	141151780	missense	possibly damaging	0.58
R7307:Ptdss2	UTSW	7	141151732	missense	possibly damaging	0.51
R7444:Ptdss2	UTSW	7	141153084	missense	possibly damaging	0.94

Posted On

2015-04-16