Mutagenetix > Incidental Mutation

Incidental Mutation 'R0503:Ptdss2'

47256

Institutional Source

Beutler Lab

Gene Symbol

Ptdss2

Ensembl Gene

ENSMUSG00000025495

Gene Name

phosphatidylserine synthase 2

Synonyms

PSS2

MMRRC Submission

038698-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R0503 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140711181-140736071 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 140731710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147593 (fasta)

Gene Model

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

AlphaFold

Q9Z1X2

Predicted Effect

probably benign
Transcript: ENSMUST00000026568

SMART Domains

Protein: ENSMUSP00000026568
Gene: ENSMUSG00000025495

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: ENSMUST00000174612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174706

Predicted Effect

probably benign
Transcript: ENSMUST00000209928

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

98% (57/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,322 (GRCm39)	H755R	possibly damaging	Het
Atp2c2	A	G	8: 120,461,316 (GRCm39)	E279G	probably null	Het
Ccdc65	G	T	15: 98,607,041 (GRCm39)	D83Y	probably damaging	Het
Cd200r2	T	A	16: 44,698,325 (GRCm39)	M1K	probably null	Het
Clca4c-ps	A	T	3: 144,585,583 (GRCm39)		noncoding transcript	Het
Col6a6	A	T	9: 105,644,550 (GRCm39)	M1246K	probably benign	Het
Comp	A	T	8: 70,828,384 (GRCm39)	N130I	possibly damaging	Het
Crot	A	G	5: 9,026,075 (GRCm39)	V304A	possibly damaging	Het
Dapk1	T	A	13: 60,878,662 (GRCm39)		probably null	Het
Dspp	A	T	5: 104,325,122 (GRCm39)	D495V	unknown	Het
Erich2	A	T	2: 70,340,043 (GRCm39)	R169S	probably damaging	Het
Erich2	C	A	2: 70,371,119 (GRCm39)	S426R	unknown	Het
Gab1	C	T	8: 81,526,771 (GRCm39)	R109H	probably damaging	Het
Ggcx	GTCTAT	GTCTATCTAT	6: 72,406,140 (GRCm39)		probably null	Het
Gria1	T	G	11: 57,080,542 (GRCm39)	V175G	probably damaging	Het
Hmcn1	C	T	1: 150,735,003 (GRCm39)	V170M	probably damaging	Het
Irx4	T	A	13: 73,414,703 (GRCm39)		probably null	Het
Katnb1	A	G	8: 95,821,802 (GRCm39)	T212A	probably damaging	Het
Kirrel1	A	G	3: 87,005,109 (GRCm39)	S80P	probably benign	Het
Lrrc75b	T	C	10: 75,389,488 (GRCm39)	T81A	possibly damaging	Het
Macf1	A	G	4: 123,363,608 (GRCm39)	S1775P	probably damaging	Het
Mmp10	A	T	9: 7,507,340 (GRCm39)	I387F	probably damaging	Het
Mphosph10	A	T	7: 64,039,641 (GRCm39)	C110S	probably benign	Het
Mpig6b	A	G	17: 35,283,424 (GRCm39)		probably benign	Het
Mrps27	G	T	13: 99,546,303 (GRCm39)		probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Mybpc2	A	G	7: 44,161,994 (GRCm39)		probably benign	Het
Nbea	C	T	3: 55,550,257 (GRCm39)	G2724S	possibly damaging	Het
Nck2	A	G	1: 43,572,728 (GRCm39)	M1V	probably null	Het
Nefl	T	A	14: 68,321,432 (GRCm39)	D7E	probably benign	Het
Nktr	T	A	9: 121,579,806 (GRCm39)		probably benign	Het
Nlrp12	C	T	7: 3,298,007 (GRCm39)	E55K	probably damaging	Het
Nsun7	T	A	5: 66,440,924 (GRCm39)		probably benign	Het
Or10d4c	A	G	9: 39,558,772 (GRCm39)	Y250C	probably damaging	Het
Or4c109	C	T	2: 88,818,322 (GRCm39)	V75I	probably benign	Het
Or4k5	T	A	14: 50,385,935 (GRCm39)	Y132F	probably damaging	Het
Or51a5	A	T	7: 102,771,643 (GRCm39)	M112K	possibly damaging	Het
Or6c2b	T	C	10: 128,947,671 (GRCm39)	T208A	probably damaging	Het
Or6f2	T	C	7: 139,756,354 (GRCm39)	V113A	possibly damaging	Het
Pcdh15	A	G	10: 74,046,217 (GRCm39)	T165A	probably damaging	Het
Pikfyve	A	T	1: 65,259,058 (GRCm39)	H410L	probably damaging	Het
Polr3c	A	T	3: 96,620,952 (GRCm39)		probably null	Het
Ptprg	A	G	14: 12,237,138 (GRCm38)	M1386V	possibly damaging	Het
Ptpru	T	C	4: 131,520,954 (GRCm39)	N784S	probably benign	Het
Rfx4	T	A	10: 84,730,196 (GRCm39)	I495K	possibly damaging	Het
Serpina12	C	A	12: 103,997,418 (GRCm39)	A368S	probably damaging	Het
Tmem39b	A	C	4: 129,580,779 (GRCm39)	Y238D	possibly damaging	Het
Tspan11	T	C	6: 127,916,075 (GRCm39)	W124R	probably benign	Het
Ttll10	T	C	4: 156,132,005 (GRCm39)		probably benign	Het
Tyro3	T	C	2: 119,633,711 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,045,127 (GRCm39)	M644V	probably benign	Het
Vmn1r196	G	A	13: 22,477,557 (GRCm39)	M65I	probably benign	Het
Vmn2r85	T	C	10: 130,258,609 (GRCm39)	Y482C	probably damaging	Het
Zfp940	A	G	7: 29,545,445 (GRCm39)		probably benign	Het
Zfyve9	A	T	4: 108,576,961 (GRCm39)	L40*	probably null	Het
Zkscan1	T	A	5: 138,091,588 (GRCm39)	I107N	probably 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
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

Predicted Primers

PCR Primer
(F):5'- TACAGACCACTCTATCCAGGCTGC -3'
(R):5'- GCTTCAGATGACCACACTGGCAAC -3'

Sequencing Primer
(F):5'- ATCCAGGCTGCCTTGCTAAG -3'
(R):5'- CACTGGCAACAGAGACCAGG -3'

Posted On

2013-06-12