Mutagenetix > Incidental Mutation

Incidental Mutation 'R6913:Pisd'

539155

Institutional Source

Beutler Lab

Gene Symbol

Pisd

Ensembl Gene

ENSMUSG00000023452

Gene Name

phosphatidylserine decarboxylase

Synonyms

9030221M09Rik

MMRRC Submission

045034-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6913 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32893645-32942990 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32894773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 511 (Y511C)

Ref Sequence

ENSEMBL: ENSMUSP00000124923 (fasta)

Gene Model

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

AlphaFold

Q8BSF4

Predicted Effect

probably damaging
Transcript: ENSMUST00000061895
AA Change: Y341C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000051438
Gene: ENSMUSG00000023452
AA Change: Y341C

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

Predicted Effect

silent
Transcript: ENSMUST00000071829

SMART Domains

Protein: ENSMUSP00000071732
Gene: ENSMUSG00000023452

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120591
AA Change: Y310C

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000112573
Gene: ENSMUSG00000023452
AA Change: Y310C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000135248

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122705
Gene: ENSMUSG00000023452
AA Change: Y293C

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 damaging
Transcript: ENSMUST00000144673
AA Change: Y511C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124923
Gene: ENSMUSG00000093574
AA Change: Y511C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000202283

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.9%

Validation Efficiency

97% (74/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,197,494 (GRCm39)	I619N	possibly damaging	Het
Accsl	T	C	2: 93,696,488 (GRCm39)	K41E	possibly damaging	Het
Actr6	T	C	10: 89,562,558 (GRCm39)	E107G	probably damaging	Het
Adam7	T	A	14: 68,771,100 (GRCm39)	M9L	probably benign	Het
Adamts12	T	A	15: 11,215,778 (GRCm39)	H266Q	probably damaging	Het
Adamts16	A	G	13: 70,877,017 (GRCm39)	F1208S	possibly damaging	Het
Ankrd11	T	C	8: 123,621,650 (GRCm39)	D734G	probably benign	Het
Ap1b1	T	C	11: 4,962,972 (GRCm39)	V43A	possibly damaging	Het
Asnsd1	A	G	1: 53,387,390 (GRCm39)	V79A	probably damaging	Het
Aste1	T	A	9: 105,274,607 (GRCm39)	S221R	probably benign	Het
Ccndbp1	G	A	2: 120,840,347 (GRCm39)	E94K	probably benign	Het
Cdc34	G	A	10: 79,520,937 (GRCm39)		probably null	Het
Cdh16	T	C	8: 105,348,896 (GRCm39)	D67G	probably benign	Het
Chd8	T	C	14: 52,451,951 (GRCm39)	E1348G	probably damaging	Het
Chl1	C	T	6: 103,642,909 (GRCm39)	Q216*	probably null	Het
Cse1l	G	A	2: 166,771,797 (GRCm39)	V353I	possibly damaging	Het
Ctbp2	G	A	7: 132,616,455 (GRCm39)	S160F	possibly damaging	Het
Cyp1a1	C	A	9: 57,607,576 (GRCm39)	T68K	probably damaging	Het
Dennd11	T	C	6: 40,383,851 (GRCm39)	N397S	possibly damaging	Het
Dlgap2	T	A	8: 14,828,374 (GRCm39)	M594K	probably benign	Het
Dnah6	C	T	6: 73,189,505 (GRCm39)	E48K	probably benign	Het
Dock2	A	G	11: 34,647,049 (GRCm39)	V35A	probably damaging	Het
Edem2	A	T	2: 155,568,594 (GRCm39)	S73R	probably damaging	Het
Eps15	T	C	4: 109,218,427 (GRCm39)	V430A	probably benign	Het
Frem2	T	C	3: 53,424,242 (GRCm39)	N3065S	probably damaging	Het
Gal3st4	A	T	5: 138,269,090 (GRCm39)	S123R	possibly damaging	Het
Garnl3	T	A	2: 32,876,841 (GRCm39)	I937F	possibly damaging	Het
Gfod2	C	T	8: 106,443,995 (GRCm39)	V183M	possibly damaging	Het
Glipr1l1	T	C	10: 111,898,339 (GRCm39)		probably null	Het
Gm7145	T	G	1: 117,913,711 (GRCm39)	C198G	probably damaging	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
H2-Eb2	G	A	17: 34,552,523 (GRCm39)	A123T	possibly damaging	Het
Ighv1-55	T	C	12: 115,172,129 (GRCm39)	I7V	probably benign	Het
Itpripl2	G	T	7: 118,090,332 (GRCm39)	P76T	possibly damaging	Het
Kat6a	C	A	8: 23,393,215 (GRCm39)	A231E	possibly damaging	Het
Lipo3	C	T	19: 33,757,705 (GRCm39)	V255I	probably benign	Het
Mamstr	A	T	7: 45,292,662 (GRCm39)	M141L	probably benign	Het
Med13	A	G	11: 86,210,702 (GRCm39)	V480A	probably benign	Het
Mei1	A	G	15: 81,973,810 (GRCm39)	N523S	probably benign	Het
Mill2	A	G	7: 18,590,351 (GRCm39)	T144A	probably null	Het
Muc16	C	A	9: 18,553,959 (GRCm39)	L4111F	unknown	Het
Mylk2	G	A	2: 152,755,610 (GRCm39)	G258E	possibly damaging	Het
Myom2	T	G	8: 15,115,710 (GRCm39)	S42A	probably benign	Het
Nab1	C	A	1: 52,503,995 (GRCm39)	G401C	possibly damaging	Het
Nifk	T	C	1: 118,260,592 (GRCm39)	V244A	possibly damaging	Het
Nipsnap2	C	A	5: 129,830,357 (GRCm39)	Q224K	probably benign	Het
Nop16	T	G	13: 54,737,553 (GRCm39)	K47Q	probably damaging	Het
Nup153	A	T	13: 46,853,192 (GRCm39)	S548R	probably damaging	Het
Or2at1	A	C	7: 99,416,924 (GRCm39)	D185A	probably damaging	Het
Or4g17	A	G	2: 111,209,347 (GRCm39)	M1V	probably null	Het
Or5b111	A	G	19: 13,290,998 (GRCm39)	I217T	probably benign	Het
Pard6g	G	A	18: 80,160,534 (GRCm39)	V216I	possibly damaging	Het
Pcdh20	C	T	14: 88,706,038 (GRCm39)	V421I	probably benign	Het
Pcif1	G	A	2: 164,726,224 (GRCm39)		probably null	Het
Pde11a	C	A	2: 76,168,084 (GRCm39)	V290F	probably damaging	Het
Polg	A	T	7: 79,110,405 (GRCm39)	D276E	probably damaging	Het
Polr3b	T	C	10: 84,549,496 (GRCm39)	V906A	probably damaging	Het
Prkcg	C	T	7: 3,362,335 (GRCm39)	P270S	probably benign	Het
Rapgef2	T	A	3: 78,993,281 (GRCm39)	I884F	probably damaging	Het
Rpl13	C	A	8: 123,830,014 (GRCm39)	N113K	possibly damaging	Het
Rxra	T	A	2: 27,631,186 (GRCm39)	I139N	probably damaging	Het
Sf3b5	T	A	10: 12,884,487 (GRCm39)	C41S	probably benign	Het
Spata31e3	G	T	13: 50,399,293 (GRCm39)	P1011H	probably damaging	Het
Stk24	C	T	14: 121,540,221 (GRCm39)	R126Q	probably damaging	Het
Taar8b	T	C	10: 23,967,963 (GRCm39)	D77G	possibly damaging	Het
Tbc1d1	T	A	5: 64,468,452 (GRCm39)	C566S	probably benign	Het
Tenm3	A	T	8: 48,751,972 (GRCm39)	M948K	probably damaging	Het
Thbs4	T	A	13: 92,894,444 (GRCm39)	Q693L	possibly damaging	Het
Tnfrsf26	A	T	7: 143,172,126 (GRCm39)	C61*	probably null	Het
Trp63	A	G	16: 25,707,918 (GRCm39)	E636G	probably damaging	Het
Try5	T	C	6: 41,288,266 (GRCm39)	Y121C	probably damaging	Het
Ttn	G	T	2: 76,660,755 (GRCm39)		probably benign	Het
Vamp1	T	A	6: 125,195,908 (GRCm39)	V55D	probably damaging	Het
Vmn2r117	T	C	17: 23,698,537 (GRCm39)	N12S	probably damaging	Het
Vmn2r90	G	A	17: 17,924,323 (GRCm39)	G41S	probably damaging	Het
Zfp462	T	A	4: 55,007,775 (GRCm39)	D71E	probably benign	Het

Other mutations in Pisd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Pisd	APN	5	32,895,756 (GRCm39)	missense	probably benign	0.02
IGL00540:Pisd	APN	5	32,895,756 (GRCm39)	missense	probably benign	0.02
IGL00577:Pisd	APN	5	32,895,756 (GRCm39)	missense	probably benign	0.02
IGL00580:Pisd	APN	5	32,895,756 (GRCm39)	missense	probably benign	0.02
IGL00590:Pisd	APN	5	32,895,756 (GRCm39)	missense	probably benign	0.02
IGL00990:Pisd	APN	5	32,896,702 (GRCm39)	missense	probably benign	0.24
IGL01899:Pisd	APN	5	32,896,476 (GRCm39)	splice site	probably null
IGL01908:Pisd	APN	5	32,896,476 (GRCm39)	splice site	probably null
IGL01928:Pisd	APN	5	32,896,476 (GRCm39)	splice site	probably null
IGL01931:Pisd	APN	5	32,896,476 (GRCm39)	splice site	probably null
IGL01935:Pisd	APN	5	32,896,476 (GRCm39)	splice site	probably null
IGL01948:Pisd	APN	5	32,896,476 (GRCm39)	splice site	probably null
IGL01952:Pisd	APN	5	32,896,476 (GRCm39)	splice site	probably null
IGL02195:Pisd	APN	5	32,894,659 (GRCm39)	missense	probably damaging	1.00
shandong	UTSW	5	32,922,140 (GRCm39)	missense	possibly damaging	0.94
R0674:Pisd	UTSW	5	32,931,781 (GRCm39)	missense	probably benign	0.00
R0840:Pisd	UTSW	5	32,894,656 (GRCm39)	missense	probably damaging	1.00
R1976:Pisd	UTSW	5	32,896,209 (GRCm39)	missense	probably damaging	1.00
R1986:Pisd	UTSW	5	32,894,672 (GRCm39)	missense	probably damaging	1.00
R2044:Pisd	UTSW	5	32,922,140 (GRCm39)	missense	possibly damaging	0.94
R5705:Pisd	UTSW	5	32,894,707 (GRCm39)	missense	probably benign	0.14
R5756:Pisd	UTSW	5	32,895,842 (GRCm39)	missense	probably damaging	1.00
R6249:Pisd	UTSW	5	32,896,188 (GRCm39)	missense	probably damaging	1.00
R6389:Pisd	UTSW	5	32,922,191 (GRCm39)	missense	probably damaging	1.00
R7143:Pisd	UTSW	5	32,895,846 (GRCm39)	missense	possibly damaging	0.73
R7571:Pisd	UTSW	5	32,894,681 (GRCm39)	missense	probably damaging	1.00
R7626:Pisd	UTSW	5	32,898,032 (GRCm39)	missense	probably benign	0.04
R8903:Pisd	UTSW	5	32,895,755 (GRCm39)	missense	probably benign	0.18
R9310:Pisd	UTSW	5	32,894,784 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AAAGATCCTTTGGCAGCCAC -3'
(R):5'- CAGCATTTATGTCTGACCCCTG -3'

Sequencing Primer
(F):5'- TTTGGCAGCCACAACCGAG -3'
(R):5'- TGCCCCGCCTTGTCAAAG -3'

Posted On

2018-11-06