Mutagenetix > Incidental Mutation

Incidental Mutation 'R2044:Pisd'

221622

Institutional Source

Beutler Lab

Gene Symbol

Pisd

Ensembl Gene

ENSMUSG00000023452

Gene Name

phosphatidylserine decarboxylase

Synonyms

MMRRC Submission

040051-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2044 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32736301-32785646 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32764796 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 267 (P267S)

Ref Sequence

ENSEMBL: ENSMUSP00000124923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061895] [ENSMUST00000142957] [ENSMUST00000144673]

AlphaFold

Q8BSF4

Predicted Effect

probably benign
Transcript: ENSMUST00000061895
AA Change: P97S

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000051438
Gene: ENSMUSG00000023452
AA Change: P97S

Domain	Start	End	E-Value	Type
Pfam:PS_Dcarbxylase	162	405	1.1e-71	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138360

Predicted Effect

probably benign
Transcript: ENSMUST00000142779
AA Change: P87S

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000122705
Gene: ENSMUSG00000023452
AA Change: P87S

Domain	Start	End	E-Value	Type
Pfam:PS_Dcarbxylase	153	270	1.7e-33	PFAM
Pfam:PS_Dcarbxylase	268	358	2.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142957

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144673
AA Change: P267S

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124923
Gene: ENSMUSG00000093574
AA Change: P267S

Domain	Start	End	E-Value	Type
Pfam:Tantalus	158	193	1.2e-15	PFAM
Pfam:PS_Dcarbxylase	332	575	2.1e-71	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145759

Meta Mutation Damage Score

0.0839

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

98% (92/94)

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 phosphatidylserine to phosphatidylethanolamine in the inner mitochondrial membrane. The encoded protein is active in phospholipid metabolism and interorganelle trafficking of phosphatidylserine. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a null mutation in this gene display embryogenesis defects such as abnormal trophoblast development, abnormal extraembronic tissue morphology and abnormal mitochondrial morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	G	A	17: 36,978,094		probably benign	Het
Abhd15	A	G	11: 77,518,338	T293A	probably benign	Het
Aldh1l1	C	T	6: 90,562,665	P192L	probably benign	Het
Aldoart1	T	G	4: 72,852,542	I10L	probably benign	Het
Ankhd1	G	A	18: 36,645,113	G1653D	probably benign	Het
Ankk1	A	C	9: 49,419,364		probably null	Het
Astn1	A	G	1: 158,600,502	T748A	possibly damaging	Het
Bmp7	C	A	2: 172,939,915	R52L	possibly damaging	Het
Ccdc151	T	G	9: 21,991,858	T419P	possibly damaging	Het
Ccdc33	G	A	9: 58,031,112	P859S	possibly damaging	Het
Ccny	A	G	18: 9,449,644	S10P	probably damaging	Het
Cdc6	C	A	11: 98,910,461	F179L	probably benign	Het
Cdc7	T	A	5: 106,983,132	V491E	probably benign	Het
Cdh23	G	T	10: 60,596,730	S138R	possibly damaging	Het
Cenpc1	T	C	5: 86,037,755	H299R	probably benign	Het
Ciart	A	T	3: 95,878,701	M354K	probably benign	Het
Clasrp	G	T	7: 19,586,715		probably benign	Het
Col4a3	G	A	1: 82,696,319	G1132E	unknown	Het
Crebbp	G	A	16: 4,084,823	T2184I	probably benign	Het
Cyp2r1	A	C	7: 114,550,405	M458R	probably damaging	Het
Cyp7a1	C	A	4: 6,275,492	R27M	probably null	Het
Ddhd2	A	G	8: 25,752,165	F116L	probably damaging	Het
Dgkd	G	A	1: 87,927,691	R685K	probably benign	Het
Dnah2	A	G	11: 69,524,240	S223P	probably benign	Het
Exph5	A	T	9: 53,372,679	R353S	possibly damaging	Het
F11	C	A	8: 45,252,118	V129F	probably benign	Het
F830045P16Rik	A	T	2: 129,459,397	S454T	possibly damaging	Het
Fam124a	T	C	14: 62,587,207	I50T	probably damaging	Het
Fam20c	T	C	5: 138,756,227		probably null	Het
Fam234b	A	G	6: 135,226,914	T405A	probably benign	Het
Fbxo18	C	A	2: 11,762,970	V356L	possibly damaging	Het
Flywch1	G	A	17: 23,762,313	Q132*	probably null	Het
Foxo6	T	C	4: 120,286,969	D95G	probably benign	Het
Ggt5	T	C	10: 75,604,087	F174S	probably damaging	Het
Gm7104	G	A	12: 88,285,781		noncoding transcript	Het
Gpr155	A	G	2: 73,373,633	L279P	probably damaging	Het
H2-T23	A	G	17: 36,032,191	L98P	probably damaging	Het
Heatr5a	A	G	12: 51,955,403	V250A	probably benign	Het
Heyl	A	T	4: 123,241,363	I50F	probably damaging	Het
Hist4h4	G	C	6: 136,804,103	R93G	possibly damaging	Het
Ifitm10	A	T	7: 142,356,034	S179R	probably damaging	Het
Isg15	A	T	4: 156,199,792	I93N	probably benign	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Itga10	G	A	3: 96,657,690	V985I	probably benign	Het
Kcnt2	T	C	1: 140,375,154	I144T	probably benign	Het
Klk1	A	C	7: 44,229,034	K104T	possibly damaging	Het
Lemd3	C	A	10: 120,933,442	R654L	probably damaging	Het
Lmod1	A	T	1: 135,364,387	M327L	probably benign	Het
Lonrf2	T	C	1: 38,807,050	E347G	probably benign	Het
Ltbp1	A	G	17: 75,276,432	Y409C	probably damaging	Het
Mecom	A	T	3: 29,980,592	Y312N	probably damaging	Het
Mrgprb3	C	T	7: 48,643,734	C23Y	possibly damaging	Het
Mut	A	G	17: 40,941,451	T295A	probably benign	Het
Nadk	C	A	4: 155,585,441	L194I	probably damaging	Het
Naxd	A	G	8: 11,509,510	I182V	probably benign	Het
Nbeal1	T	A	1: 60,319,687	I1176K	probably damaging	Het
Nol4l	C	A	2: 153,529,521	R81L	possibly damaging	Het
Olfr1297	T	A	2: 111,621,814	R87W	probably benign	Het
Olfr1411	G	T	1: 92,596,969	R150L	probably benign	Het
Olfr957	A	T	9: 39,511,378	M114K	probably damaging	Het
Pcdh18	A	G	3: 49,754,940	V642A	probably benign	Het
Pdzk1	G	A	3: 96,855,848		probably benign	Het
Per3	C	T	4: 151,033,938	V233I	probably benign	Het
Prm1	T	A	16: 10,796,493		probably benign	Het
Ptprj	A	G	2: 90,463,095	V548A	probably damaging	Het
Ranbp3	G	A	17: 56,673,367		probably benign	Het
Raver2	T	A	4: 101,102,812	V163D	probably damaging	Het
Rbm14	A	T	19: 4,803,877	I159N	possibly damaging	Het
Rfx6	G	A	10: 51,718,126	V381I	probably benign	Het
Rhobtb1	T	C	10: 69,272,863		probably benign	Het
Rpl28-ps4	T	A	6: 117,213,895		noncoding transcript	Het
Rsph10b	A	G	5: 143,967,250		probably null	Het
Rspo4	A	G	2: 151,873,093	K217E	unknown	Het
Scgb2b27	G	A	7: 34,013,285	A44V	possibly damaging	Het
Sec14l2	G	A	11: 4,111,435		probably benign	Het
Sec31b	T	C	19: 44,536,156	N101D	probably benign	Het
Sema6a	A	T	18: 47,306,429	C9*	probably null	Het
Sept5	A	C	16: 18,623,012	L331R	probably benign	Het
Slc16a11	C	A	11: 70,215,651	Y238*	probably null	Het
Slc25a12	T	C	2: 71,312,548	T210A	probably benign	Het
Slc35f1	A	T	10: 53,089,347	Y286F	probably damaging	Het
Szt2	A	T	4: 118,376,448	L2225*	probably null	Het
Thap12	T	C	7: 98,716,620	L665P	probably damaging	Het
Tpsb2	T	A	17: 25,367,724	W237R	probably damaging	Het
Tyk2	T	C	9: 21,120,341	D451G	probably damaging	Het
Ube2j1	T	A	4: 33,049,696	N231K	probably benign	Het
Vmn1r225	A	T	17: 20,502,590	T98S	possibly damaging	Het
Vmn1r87	A	T	7: 13,131,821	S180T	probably benign	Het
Vmn2r6	A	G	3: 64,537,841	V821A	probably damaging	Het
Zfp689	C	A	7: 127,444,826	G211C	probably damaging	Het
Zfp827	A	G	8: 79,076,236	D479G	probably benign	Het
Zfp995	A	C	17: 21,880,594	F220V	probably damaging	Het

Other mutations in Pisd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Pisd	APN	5	32738412	missense	probably benign	0.02
IGL00540:Pisd	APN	5	32738412	missense	probably benign	0.02
IGL00577:Pisd	APN	5	32738412	missense	probably benign	0.02
IGL00580:Pisd	APN	5	32738412	missense	probably benign	0.02
IGL00590:Pisd	APN	5	32738412	missense	probably benign	0.02
IGL00990:Pisd	APN	5	32739358	missense	probably benign	0.24
IGL01899:Pisd	APN	5	32739132	splice site	probably null
IGL01908:Pisd	APN	5	32739132	splice site	probably null
IGL01928:Pisd	APN	5	32739132	splice site	probably null
IGL01931:Pisd	APN	5	32739132	splice site	probably null
IGL01935:Pisd	APN	5	32739132	splice site	probably null
IGL01948:Pisd	APN	5	32739132	splice site	probably null
IGL01952:Pisd	APN	5	32739132	splice site	probably null
IGL02195:Pisd	APN	5	32737315	missense	probably damaging	1.00
shandong	UTSW	5	32764796	missense	possibly damaging	0.94
R0674:Pisd	UTSW	5	32774437	missense	probably benign	0.00
R0840:Pisd	UTSW	5	32737312	missense	probably damaging	1.00
R1976:Pisd	UTSW	5	32738865	missense	probably damaging	1.00
R1986:Pisd	UTSW	5	32737328	missense	probably damaging	1.00
R5705:Pisd	UTSW	5	32737363	missense	probably benign	0.14
R5756:Pisd	UTSW	5	32738498	missense	probably damaging	1.00
R6249:Pisd	UTSW	5	32738844	missense	probably damaging	1.00
R6389:Pisd	UTSW	5	32764847	missense	probably damaging	1.00
R6913:Pisd	UTSW	5	32737429	missense	probably damaging	1.00
R7143:Pisd	UTSW	5	32738502	missense	possibly damaging	0.73
R7571:Pisd	UTSW	5	32737337	missense	probably damaging	1.00
R7626:Pisd	UTSW	5	32740688	missense	probably benign	0.04
R8903:Pisd	UTSW	5	32738411	missense	probably benign	0.18
R9310:Pisd	UTSW	5	32737440	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GGCCAGGTCTTTGAATAGAAGAC -3'
(R):5'- ATAAGGTCGTCTTTCGGGCTC -3'

Sequencing Primer
(F):5'- GTGTGATTCCTACAGCCA -3'
(R):5'- CTGGGATTGCATGACTTATTTTTAC -3'

Posted On

2014-08-25