Mutagenetix > Incidental Mutation

Incidental Mutation 'R7552:Psph'

584462

Institutional Source

Beutler Lab

Gene Symbol

Psph

Ensembl Gene

ENSMUSG00000029446

Gene Name

phosphoserine phosphatase

Synonyms

PSPase

MMRRC Submission

045621-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7552 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129842622-129864318 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 129847800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 49 (R49W)

Ref Sequence

ENSEMBL: ENSMUSP00000031399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031399] [ENSMUST00000118268] [ENSMUST00000136507] [ENSMUST00000201394]

AlphaFold

Q99LS3

Predicted Effect

probably benign
Transcript: ENSMUST00000031399
AA Change: R49W

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000031399
Gene: ENSMUSG00000029446
AA Change: R49W

Domain	Start	End	E-Value	Type
Pfam:Hydrolase	14	191	5.7e-19	PFAM
Pfam:HAD	17	187	4e-13	PFAM
Pfam:UMPH-1	62	192	5.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118268
AA Change: R49W

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113671
Gene: ENSMUSG00000029446
AA Change: R49W

Domain	Start	End	E-Value	Type
PDB:1L8O\|B	1	94	1e-55	PDB
SCOP:d1j97a_	15	92	2e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136507
AA Change: R49W

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000116292
Gene: ENSMUSG00000029446
AA Change: R49W

Domain	Start	End	E-Value	Type
PDB:1NNL\|B	1	59	1e-32	PDB
SCOP:d1j97a_	15	58	2e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201394
AA Change: R49W

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000144667
Gene: ENSMUSG00000029446
AA Change: R49W

Domain	Start	End	E-Value	Type
Pfam:Hydrolase	14	113	4.5e-6	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (89/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	A	G	10: 80,419,737 (GRCm39)	Y290H	probably benign	Het
Aco2	T	C	15: 81,788,142 (GRCm39)	V257A	probably damaging	Het
Adam26a	C	A	8: 44,023,007 (GRCm39)	C161F	possibly damaging	Het
Adam9	G	A	8: 25,445,988 (GRCm39)	P820S	unknown	Het
Adcy4	G	A	14: 56,010,922 (GRCm39)	T665M	probably benign	Het
Ahnak	T	A	19: 8,984,188 (GRCm39)	M1824K	probably benign	Het
Alpi	T	C	1: 87,026,795 (GRCm39)	N428D	probably benign	Het
Ano5	C	T	7: 51,196,528 (GRCm39)	P153L	probably benign	Het
Atp1a1	A	T	3: 101,489,437 (GRCm39)	L725*	probably null	Het
Atp8b2	G	A	3: 89,854,071 (GRCm39)	T595I	probably damaging	Het
Ccdc66	T	C	14: 27,220,820 (GRCm39)	I35V	possibly damaging	Het
Cd163	A	G	6: 124,284,187 (GRCm39)	T120A	probably benign	Het
Cmah	A	T	13: 24,640,938 (GRCm39)	T396S	possibly damaging	Het
Cmya5	C	T	13: 93,205,820 (GRCm39)	V3350I	probably benign	Het
Commd9	A	C	2: 101,731,410 (GRCm39)	K198N	probably damaging	Het
Cxcr1	A	G	1: 74,231,773 (GRCm39)	V83A	probably benign	Het
D630045J12Rik	A	G	6: 38,125,383 (GRCm39)	S1544P	probably damaging	Het
Ddt	A	T	10: 75,609,048 (GRCm39)		probably null	Het
Depdc7	A	G	2: 104,557,585 (GRCm39)	S222P	possibly damaging	Het
Ehd2	A	G	7: 15,684,431 (GRCm39)	I456T	probably damaging	Het
Epas1	A	T	17: 87,136,471 (GRCm39)	M748L	probably benign	Het
Esr1	G	A	10: 4,806,903 (GRCm39)	R273H	probably damaging	Het
Fras1	G	A	5: 96,916,297 (GRCm39)	D3444N	probably damaging	Het
Hand2	A	G	8: 57,775,272 (GRCm39)	R111G	probably damaging	Het
Hecw1	A	T	13: 14,490,835 (GRCm39)	V306E	probably damaging	Het
Ift140	T	C	17: 25,252,089 (GRCm39)	I312T	probably benign	Het
Ikbke	A	T	1: 131,199,887 (GRCm39)	L257*	probably null	Het
Kcnk5	G	A	14: 20,192,349 (GRCm39)	P271S	probably benign	Het
Lama1	T	C	17: 68,044,662 (GRCm39)	V187A		Het
Lemd2	A	T	17: 27,412,810 (GRCm39)		probably null	Het
Lig3	T	A	11: 82,679,717 (GRCm39)	D341E	probably benign	Het
Lpcat1	C	T	13: 73,643,014 (GRCm39)	S196L	probably damaging	Het
Lrp1b	A	T	2: 40,567,582 (GRCm39)	D4048E		Het
Lrrfip1	G	A	1: 91,033,005 (GRCm39)	E158K	probably damaging	Het
Mcm5	T	C	8: 75,848,220 (GRCm39)	S490P	probably damaging	Het
Mia3	A	C	1: 183,147,036 (GRCm39)	Y73*	probably null	Het
Minar1	T	A	9: 89,483,888 (GRCm39)	H503L	probably benign	Het
Msr1	A	T	8: 40,077,003 (GRCm39)	N202K	probably benign	Het
N4bp2l2	A	T	5: 150,585,286 (GRCm39)	Y231*	probably null	Het
Nbeal2	A	G	9: 110,482,985 (GRCm39)	W11R	probably benign	Het
Ncor1	T	C	11: 62,264,250 (GRCm39)	E384G	possibly damaging	Het
Neb	A	G	2: 52,137,202 (GRCm39)	V254A		Het
Nlrp9b	T	C	7: 19,779,691 (GRCm39)	S785P	probably benign	Het
Oprd1	T	G	4: 131,841,092 (GRCm39)	I289L	possibly damaging	Het
Or4c10	G	T	2: 89,761,064 (GRCm39)	D304Y	probably benign	Het
Or4s2	A	G	2: 88,473,752 (GRCm39)	I214V	probably benign	Het
Or5m12	A	G	2: 85,734,447 (GRCm39)	V317A	probably benign	Het
Or6a2	T	C	7: 106,600,534 (GRCm39)	T178A	probably benign	Het
Or6c2	T	A	10: 129,362,429 (GRCm39)	F111Y	possibly damaging	Het
Orc1	A	G	4: 108,445,951 (GRCm39)	N23S	probably benign	Het
Paip1	A	T	13: 119,577,356 (GRCm39)	H149L	possibly damaging	Het
Pdhx	A	T	2: 102,877,099 (GRCm39)	D103E	probably benign	Het
Pi4ka	T	C	16: 17,109,080 (GRCm39)	Y1614C		Het
Pias3	ACC	AC	3: 96,608,701 (GRCm39)		probably null	Het
Pigb	A	G	9: 72,941,770 (GRCm39)	V163A	probably benign	Het
Pla2g4d	A	G	2: 120,114,620 (GRCm39)	I37T	possibly damaging	Het
Ppfia1	A	T	7: 144,059,982 (GRCm39)	V610D	probably damaging	Het
Pramel41	G	A	5: 94,596,394 (GRCm39)	C477Y	probably damaging	Het
Prss1	T	C	6: 41,439,507 (GRCm39)	V80A	probably benign	Het
Qrich2	T	C	11: 116,347,080 (GRCm39)	Y1248C	possibly damaging	Het
Rlbp1	T	A	7: 79,029,861 (GRCm39)	Y124F	probably damaging	Het
Scn4a	T	A	11: 106,239,995 (GRCm39)	E74V	probably benign	Het
Sdk2	A	T	11: 113,764,039 (GRCm39)	I249N	possibly damaging	Het
Sgsh	A	T	11: 119,237,378 (GRCm39)	L412Q	probably damaging	Het
Shank1	C	A	7: 44,002,452 (GRCm39)	D1390E	probably benign	Het
Slc12a6	A	G	2: 112,172,319 (GRCm39)	D421G	probably damaging	Het
Snx29	T	A	16: 11,238,649 (GRCm39)		probably null	Het
Spata31d1c	A	G	13: 65,183,937 (GRCm39)	Y493C	probably damaging	Het
Stmn4	G	A	14: 66,593,727 (GRCm39)	G40E	probably damaging	Het
Stox2	A	G	8: 47,656,154 (GRCm39)		probably null	Het
Strada	T	C	11: 106,077,830 (GRCm39)	S45G	unknown	Het
Taco1	G	A	11: 105,962,774 (GRCm39)	G154S	probably benign	Het
Tas2r121	T	C	6: 132,677,505 (GRCm39)	M156V	probably benign	Het
Tbc1d31	A	G	15: 57,804,136 (GRCm39)	S384G	probably benign	Het
Tbc1d9	A	T	8: 83,966,560 (GRCm39)	D387V	probably damaging	Het
Tet3	A	G	6: 83,345,289 (GRCm39)	L1716P	probably damaging	Het
Thbs1	A	G	2: 117,943,843 (GRCm39)	K154E	possibly damaging	Het
Ush2a	T	C	1: 187,999,241 (GRCm39)	Y184H	possibly damaging	Het
Vmn1r235	C	A	17: 21,481,713 (GRCm39)	Q13K	probably benign	Het
Vmn2r15	A	T	5: 109,440,774 (GRCm39)	Y361*	probably null	Het
Vmn2r88	A	T	14: 51,648,315 (GRCm39)		probably null	Het
Vps54	T	C	11: 21,248,831 (GRCm39)	V460A	probably benign	Het
Wdr64	A	G	1: 175,613,147 (GRCm39)	N674S	possibly damaging	Het
Zfp592	A	G	7: 80,673,390 (GRCm39)	D118G	probably benign	Het
Zfp763	A	G	17: 33,237,625 (GRCm39)	Y507H	probably benign	Het
Zfp934	T	C	13: 62,640,705 (GRCm39)	E16G	probably damaging	Het
Zfyve26	G	A	12: 79,337,731 (GRCm39)	L94F	probably damaging	Het

Other mutations in Psph

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0121:Psph	UTSW	5	129,868,633 (GRCm39)	unclassified	probably benign
R0539:Psph	UTSW	5	129,843,641 (GRCm39)	unclassified	probably benign
R0650:Psph	UTSW	5	129,868,633 (GRCm39)	unclassified	probably benign
R1236:Psph	UTSW	5	129,848,540 (GRCm39)	missense	probably damaging	1.00
R1474:Psph	UTSW	5	129,848,614 (GRCm39)	missense	probably damaging	1.00
R1844:Psph	UTSW	5	129,843,532 (GRCm39)	missense	probably damaging	1.00
R2130:Psph	UTSW	5	129,864,603 (GRCm39)	splice site	probably null
R3857:Psph	UTSW	5	129,848,540 (GRCm39)	missense	probably damaging	1.00
R4300:Psph	UTSW	5	129,864,529 (GRCm39)	splice site	probably null
R4368:Psph	UTSW	5	129,848,654 (GRCm39)	missense	probably benign	0.00
R4738:Psph	UTSW	5	129,846,450 (GRCm39)	critical splice acceptor site	probably null
R5306:Psph	UTSW	5	129,846,431 (GRCm39)	missense	probably damaging	1.00
R5859:Psph	UTSW	5	129,867,685 (GRCm39)	unclassified	probably benign
R6269:Psph	UTSW	5	129,843,529 (GRCm39)	missense	probably damaging	0.99
R7593:Psph	UTSW	5	129,864,337 (GRCm39)	unclassified	probably benign
R9584:Psph	UTSW	5	129,847,752 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGATTGAGACAACCTCCCGG -3'
(R):5'- AGTGAGGTTCTCAAGCCGAC -3'

Sequencing Primer
(F):5'- CCAACAATAGCATCCTCTCAGG -3'
(R):5'- GGTTCTCAAGCCGACCTCCTG -3'

Posted On

2019-10-17