Mutagenetix > Incidental Mutations

Incidental Mutation 'R4993:Ptdss1'

385042

Institutional Source

Beutler Lab

Gene Symbol

Ptdss1

Ensembl Gene

ENSMUSG00000021518

Gene Name

phosphatidylserine synthase 1

Synonyms

PSS-1, PtdSer Synthase-1

MMRRC Submission

042587-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4993 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66932830-66998401 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66945288 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 64 (V64A)

Ref Sequence

ENSEMBL: ENSMUSP00000153371 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021990] [ENSMUST00000224244] [ENSMUST00000224290]

Predicted Effect

probably benign
Transcript: ENSMUST00000021990
AA Change: V64A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021990
Gene: ENSMUSG00000021518
AA Change: V64A

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
transmembrane domain	72	89	N/A	INTRINSIC
Pfam:PSS	96	372	1.3e-108	PFAM
transmembrane domain	383	405	N/A	INTRINSIC
low complexity region	442	464	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000224244

Predicted Effect

probably benign
Transcript: ENSMUST00000224290
AA Change: V64A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000225347

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

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 formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased phosphatidylethanolamine and phosphatidylserine levels in the liver but normal axon growth and life span. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
9130008F23Rik	G	T	17: 40,880,161	Q126K	probably benign	Het
Abca15	C	A	7: 120,401,718	N1492K	probably damaging	Het
Afap1l2	C	T	19: 56,918,040	D402N	probably damaging	Het
Akap11	A	G	14: 78,512,968	F660L	probably damaging	Het
Bcl3	T	C	7: 19,820,177	T89A	probably benign	Het
Bub1b	T	C	2: 118,636,770	I858T	possibly damaging	Het
Cdk19	A	G	10: 40,476,218	D288G	possibly damaging	Het
Cyp2d34	T	A	15: 82,618,329	D202V	probably damaging	Het
Dip2c	T	G	13: 9,575,223	Y584*	probably null	Het
Dpf3	A	T	12: 83,331,861		probably null	Het
Drp2	G	A	X: 134,441,316	R567H	probably damaging	Homo
Emid1	G	T	11: 5,131,512	Q212K	probably benign	Het
Esm1	C	T	13: 113,213,399	Q118*	probably null	Het
Fahd2a	T	G	2: 127,436,364	I308L	probably benign	Het
Fam208a	T	A	14: 27,429,114	W16R	possibly damaging	Het
Fanci	T	C	7: 79,435,378	*851Q	probably null	Het
Fastkd1	C	A	2: 69,702,740	V428F	probably damaging	Het
Fat2	A	T	11: 55,283,092	I2265N	probably damaging	Het
Gale	C	A	4: 135,966,860	H191Q	probably damaging	Het
Ghsr	T	A	3: 27,372,254	V153E	possibly damaging	Het
Gm10696	C	T	3: 94,176,316	G63R	probably damaging	Het
Gpc6	A	G	14: 117,624,539	N289S	possibly damaging	Het
Hoxb6	A	T	11: 96,300,711	Y153F	probably damaging	Het
Ints3	T	C	3: 90,415,507	T139A	probably benign	Het
Irf2bp2	A	G	8: 126,592,671	S256P	probably benign	Het
Klf4	G	T	4: 55,530,640	P148Q	probably damaging	Het
Loxl1	T	G	9: 58,312,537	H117P	probably damaging	Het
Lpl	A	G	8: 68,895,793	K225E	probably benign	Het
Lrba	T	A	3: 86,360,037	V1678D	probably damaging	Het
Med1	A	T	11: 98,163,904	F398Y	probably damaging	Het
Mfap2	T	C	4: 141,015,578	*186Q	probably null	Het
Mfsd3	T	C	15: 76,701,982	L105P	probably damaging	Het
Mlxip	T	G	5: 123,395,294	I122S	probably damaging	Het
Mmrn2	A	T	14: 34,396,398	Y107F	probably damaging	Het
Mtg1	G	T	7: 140,140,283	D88Y	probably null	Het
Mutyh	T	A	4: 116,817,935	S426R	probably benign	Het
Myo16	C	T	8: 10,476,094	T878I	probably damaging	Het
Myo9a	T	A	9: 59,861,472	Y912*	probably null	Het
Ncor1	A	C	11: 62,343,341	I669R	probably damaging	Het
Ndufs1	T	C	1: 63,163,776	I210V	probably benign	Het
Nek9	A	G	12: 85,310,420	C657R	probably damaging	Het
Noct	C	T	3: 51,250,021	T260I	probably damaging	Het
Nr1h4	A	T	10: 89,498,180	M102K	probably benign	Het
Obscn	G	A	11: 59,124,761	R1054C	possibly damaging	Het
Olfr1124	T	A	2: 87,435,152	F222I	probably benign	Het
Olfr352	C	A	2: 36,869,988	Q141K	probably benign	Het
Olfr47	A	G	6: 43,236,456	M283V	possibly damaging	Het
Olfr501-ps1	G	A	7: 108,508,243	M62I	probably damaging	Het
Olfr615	T	A	7: 103,561,317	I280N	possibly damaging	Het
Olfr619	A	T	7: 103,603,656	M1L	probably benign	Het
Otol1	C	A	3: 70,018,878	Q129K	probably benign	Het
Otx1	A	T	11: 21,998,532		probably null	Het
Pcdhac2	C	A	18: 37,146,251	N761K	probably damaging	Het
Pde1c	A	T	6: 56,150,624	M452K	probably damaging	Het
Phkg2	T	C	7: 127,573,941	Y24H	probably damaging	Het
Pigr	G	A	1: 130,841,817	D122N	probably benign	Het
Prg4	C	T	1: 150,460,681	C97Y	probably damaging	Het
Ralgapa2	T	C	2: 146,447,311	K324E	probably damaging	Het
Rfx5	G	A	3: 94,955,815	V73I	probably benign	Het
Riiad1	T	C	3: 94,472,863	T42A	probably benign	Het
Rims2	T	C	15: 39,454,445	V640A	possibly damaging	Het
Rnpep	G	T	1: 135,263,032	S592Y	possibly damaging	Het
Scap	T	C	9: 110,378,390	L431P	probably damaging	Het
Siglec1	T	A	2: 131,073,361	I1437F	possibly damaging	Het
Skint1	T	C	4: 112,028,333		probably null	Het
Slc44a1	A	G	4: 53,543,644	E396G	probably damaging	Het
Slc4a2	T	C	5: 24,434,869	F521S	probably damaging	Het
Smarcc1	T	A	9: 110,175,061	S394R	probably damaging	Het
Socs1	A	G	16: 10,784,685	S63P	probably benign	Het
Sun1	T	G	5: 139,225,333	S20A	possibly damaging	Het
Tac4	A	T	11: 95,265,242	K50*	probably null	Het
Tcaf2	A	G	6: 42,642,640	I151T	probably damaging	Het
Tcf4	T	C	18: 69,681,769	V587A	probably damaging	Het
Ttc37	T	A	13: 76,182,936	M1495K	probably damaging	Het
Ttn	T	A	2: 76,740,909	K24801*	probably null	Het
Tuba3b	G	T	6: 145,621,273	M413I	possibly damaging	Het
Ufl1	C	T	4: 25,267,832	A280T	possibly damaging	Het
Ugt2b5	T	A	5: 87,139,673	I212L	probably benign	Het
Umodl1	A	G	17: 30,986,485	T685A	probably benign	Het
Uqcrc1	T	A	9: 108,944,810	V183D	probably damaging	Het
Ush2a	A	G	1: 188,910,720	N4093S	probably benign	Het
Vmn1r167	C	T	7: 23,505,228	S121N	probably damaging	Het
Vmn1r47	A	G	6: 90,022,758	S291G	possibly damaging	Het
Vmn2r108	A	G	17: 20,481,187	V17A	probably benign	Het
Vmn2r58	T	A	7: 41,837,752	H573L	probably benign	Het
Xirp1	C	T	9: 120,018,792	V342I	probably damaging	Het
Zfp462	A	G	4: 55,051,204	M2226V	possibly damaging	Het
Zfp467	G	A	6: 48,439,029	H230Y	probably damaging	Het
Zfp595	T	A	13: 67,316,401	K599N	probably damaging	Het
Zfp819	C	A	7: 43,617,296	T401K	probably benign	Het

Other mutations in Ptdss1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01825:Ptdss1	APN	13	66987822	missense	probably benign	0.02
IGL02798:Ptdss1	APN	13	66976760	missense	probably damaging	1.00
IGL03114:Ptdss1	APN	13	66993994	nonsense	probably null
BB009:Ptdss1	UTSW	13	66966432	missense	probably damaging	1.00
BB019:Ptdss1	UTSW	13	66966432	missense	probably damaging	1.00
R0344:Ptdss1	UTSW	13	66933572	missense	probably damaging	1.00
R0591:Ptdss1	UTSW	13	66972650	splice site	probably benign
R0749:Ptdss1	UTSW	13	66987850	nonsense	probably null
R0759:Ptdss1	UTSW	13	66987804	missense	probably damaging	1.00
R1140:Ptdss1	UTSW	13	66963356	missense	probably benign	0.00
R1500:Ptdss1	UTSW	13	66995408	missense	probably benign	0.04
R1676:Ptdss1	UTSW	13	66933637	missense	probably damaging	1.00
R1761:Ptdss1	UTSW	13	66956412	missense	possibly damaging	0.72
R2086:Ptdss1	UTSW	13	66953555	missense	probably benign	0.00
R2087:Ptdss1	UTSW	13	66976817	splice site	probably benign
R3962:Ptdss1	UTSW	13	66994011	missense	probably benign	0.00
R4662:Ptdss1	UTSW	13	66933611	missense	possibly damaging	0.95
R4707:Ptdss1	UTSW	13	66995418	critical splice donor site	probably null
R4775:Ptdss1	UTSW	13	66987858	splice site	probably null
R5402:Ptdss1	UTSW	13	66933599	missense	possibly damaging	0.88
R5463:Ptdss1	UTSW	13	66945301	missense	probably damaging	1.00
R5643:Ptdss1	UTSW	13	66972540	missense	probably damaging	1.00
R5644:Ptdss1	UTSW	13	66972540	missense	probably damaging	1.00
R6043:Ptdss1	UTSW	13	66963369	missense	probably damaging	1.00
R6145:Ptdss1	UTSW	13	66972637	critical splice donor site	probably null
R6726:Ptdss1	UTSW	13	66953531	nonsense	probably null
R7016:Ptdss1	UTSW	13	66972621	missense	probably benign	0.00
R7116:Ptdss1	UTSW	13	66945327	missense	probably benign	0.00
R7339:Ptdss1	UTSW	13	66963362	missense	possibly damaging	0.78
R7836:Ptdss1	UTSW	13	66933655	missense	probably benign
R7932:Ptdss1	UTSW	13	66966432	missense	probably damaging	1.00
R7939:Ptdss1	UTSW	13	66995347	missense	probably benign
R8015:Ptdss1	UTSW	13	66963343	missense	possibly damaging	0.87
R8237:Ptdss1	UTSW	13	66976777	missense	probably damaging	1.00
RF044:Ptdss1	UTSW	13	66945348	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- ACCTGGGCTTTACTGTGAGG -3'
(R):5'- GGCCAATCTAGCTACTGAGTC -3'

Sequencing Primer
(F):5'- CTTTACTGTGAGGGTGTGGGC -3'
(R):5'- GCCAATCTAGCTACTGAGTCTATATC -3'

Posted On

2016-05-10