Mutagenetix > Incidental Mutations

Incidental Mutation 'R7626:Pisd'

589438

Institutional Source

Beutler Lab

Gene Symbol

Pisd

Ensembl Gene

ENSMUSG00000023452

Gene Name

phosphatidylserine decarboxylase

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7626 (G1)

Quality Score

152.008

Status

Validated

Chromosome

Chromosomal Location

32736301-32785646 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32740688 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 52 (H52R)

Ref Sequence

ENSEMBL: ENSMUSP00000120201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061895] [ENSMUST00000071829] [ENSMUST00000120591] [ENSMUST00000135248] [ENSMUST00000142957] [ENSMUST00000144673] [ENSMUST00000197787] [ENSMUST00000200390] [ENSMUST00000202283]

Predicted Effect

probably benign
Transcript: ENSMUST00000061895

SMART Domains

Protein: ENSMUSP00000051438
Gene: ENSMUSG00000023452

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

Predicted Effect

probably benign
Transcript: ENSMUST00000071829
AA Change: H52R

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000071732
Gene: ENSMUSG00000023452
AA Change: H52R

Domain	Start	End	E-Value	Type
Pfam:PS_Dcarbxylase	131	260	3.9e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120591
AA Change: H52R

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112573
Gene: ENSMUSG00000023452
AA Change: H52R

Domain	Start	End	E-Value	Type
Pfam:PS_Dcarbxylase	131	374	1.1e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135248
AA Change: H52R

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000142779

SMART Domains

Protein: ENSMUSP00000122705
Gene: ENSMUSG00000023452

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

probably benign
Transcript: ENSMUST00000144673

SMART Domains

Protein: ENSMUSP00000124923
Gene: ENSMUSG00000093574

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

probably benign
Transcript: ENSMUST00000197787

Predicted Effect

probably benign
Transcript: ENSMUST00000200390
AA Change: H52R

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000202283
AA Change: H52R

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (56/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Alox5	T	C	6: 116,413,795	D465G	possibly damaging	Het
Arhgef16	T	A	4: 154,282,882	K355N	possibly damaging	Het
C87499	A	T	4: 88,630,042	I42N	probably damaging	Het
Camkk2	T	A	5: 122,764,300		probably benign	Het
Ccdc171	C	T	4: 83,580,775	Q237*	probably null	Het
Ces2b	T	C	8: 104,837,385	Y464H	possibly damaging	Het
Cntfr	A	G	4: 41,662,013	F243S	possibly damaging	Het
Crip3	A	T	17: 46,429,865	R65S	probably benign	Het
Dcn	A	G	10: 97,483,478	Y39C	possibly damaging	Het
Degs2	T	C	12: 108,692,073	S216G	possibly damaging	Het
Dmxl1	A	G	18: 49,902,794	I2295V	probably benign	Het
Dnah2	A	G	11: 69,498,685	S794P	probably damaging	Het
Eri1	A	C	8: 35,474,400	Y264*	probably null	Het
Etl4	T	C	2: 20,713,378	L179P	probably damaging	Het
F5	T	G	1: 164,186,912	M584R	possibly damaging	Het
Fam98c	G	T	7: 29,152,823	R104S	probably damaging	Het
Flad1	A	T	3: 89,403,411	I443N	probably benign	Het
Hbp1	T	C	12: 31,943,900	E43G	probably benign	Het
Hivep3	CGG	CG	4: 120,097,911		probably null	Het
Kcnj3	T	A	2: 55,594,821	C310*	probably null	Het
Lct	T	C	1: 128,285,195	Y1907C	probably damaging	Het
Loxhd1	T	C	18: 77,431,186	V1896A	possibly damaging	Het
Lrfn4	C	A	19: 4,613,651	R285L	probably damaging	Het
Ltb4r2	T	A	14: 55,762,881	S320T	probably damaging	Het
Mmd	G	T	11: 90,257,552	R20L	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Nbas	T	C	12: 13,558,660	S2146P	probably benign	Het
Nop14	A	G	5: 34,651,791	F319L	probably damaging	Het
Numa1	C	A	7: 101,999,423	T787K	probably benign	Het
Olfr1495	T	G	19: 13,768,345	M1R	probably null	Het
Olfr325	A	C	11: 58,581,173	T110P	probably damaging	Het
Olfr784	T	G	10: 129,387,857	C75G	possibly damaging	Het
Patj	T	C	4: 98,546,987	V2A	probably benign	Het
Plekhg6	A	T	6: 125,363,668	D576E	probably benign	Het
Plekhn1	T	A	4: 156,225,653	H68L	probably benign	Het
Ppp1r37	T	A	7: 19,561,853	I60F	probably damaging	Het
Ppp2r1b	C	T	9: 50,878,176	T513M	possibly damaging	Het
Rhobtb2	C	A	14: 69,796,937	A280S	probably damaging	Het
Rnf40	A	G	7: 127,589,875	D140G	probably benign	Het
Rxfp1	A	G	3: 79,648,090	L653P	probably damaging	Het
Satb1	A	T	17: 51,767,967	D500E	probably benign	Het
Slc15a1	A	T	14: 121,475,965	D383E	probably benign	Het
Smarcad1	C	A	6: 65,096,049	S604R	possibly damaging	Het
St7	A	G	6: 17,934,217	T533A	probably damaging	Het
Sv2c	T	A	13: 95,985,943	T442S	probably benign	Het
Tbx2	A	G	11: 85,840,796	T640A	probably benign	Het
Tenm4	T	A	7: 96,893,014	N1948K	probably damaging	Het
Tll1	T	C	8: 64,098,234		probably null	Het
Tmem135	A	T	7: 89,156,510		probably null	Het
Tonsl	A	T	15: 76,633,936	L582Q	probably null	Het
Unc13c	T	A	9: 73,734,517	K1231N	probably damaging	Het
Vmn2r101	T	A	17: 19,611,930	Y729*	probably null	Het
Zcchc2	A	G	1: 106,001,012	T334A	possibly damaging	Het
Zfp655	T	C	5: 145,237,107	L136P	probably damaging	Het
Zfp729a	A	T	13: 67,620,318	C597*	probably null	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
R2044:Pisd	UTSW	5	32764796	missense	possibly damaging	0.94
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

Predicted Primers

PCR Primer
(F):5'- CACATATTTACTCATGAGTGCGGTC -3'
(R):5'- TGCCTGCTGGAACTCTTTGG -3'

Sequencing Primer
(F):5'- ACTCATGAGTGCGGTCTCTGATAAG -3'
(R):5'- AACTCTTTGGTTCCATTGGAGAGAG -3'

Posted On

2019-10-24