Mutagenetix > Incidental Mutation

Incidental Mutation 'R6847:Pgp'

534833

Institutional Source

Beutler Lab

Gene Symbol

Pgp

Ensembl Gene

ENSMUSG00000043445

Gene Name

phosphoglycolate phosphatase

Synonyms

1700012G19Rik

MMRRC Submission

045021-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.610) question?

Stock #

R6847 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24689400-24692084 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24690375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 267 (L267P)

Ref Sequence

ENSEMBL: ENSMUSP00000052866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053024] [ENSMUST00000054946] [ENSMUST00000070888] [ENSMUST00000164508] [ENSMUST00000179163] [ENSMUST00000226654]

AlphaFold

Q8CHP8

PDB Structure

Crystal structure of the murine AUM (phosphoglycolate phosphatase) capping domain as a fusion protein with the catalytic core domain of murine chronophin (pyridoxal phosphate phosphatase) [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000053024
AA Change: L267P

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

SMART Domains

Protein: ENSMUSP00000052866
Gene: ENSMUSG00000043445
AA Change: L267P

Domain	Start	End	E-Value	Type
Pfam:Hydrolase	28	270	9.3e-14	PFAM
Pfam:Hydrolase_6	31	139	7.2e-30	PFAM
Pfam:Hydrolase_like	232	315	3.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000054946

SMART Domains

Protein: ENSMUSP00000059792
Gene: ENSMUSG00000045744

Domain	Start	End	E-Value	Type
BRICHOS	44	139	1.15e-37	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000070888

SMART Domains

Protein: ENSMUSP00000065004
Gene: ENSMUSG00000024142

Domain	Start	End	E-Value	Type
Blast:WD40	1	28	6e-11	BLAST
WD40	31	69	1.67e-1	SMART
WD40	74	113	1.19e-6	SMART
WD40	118	156	1.63e-4	SMART
WD40	159	198	4.46e-1	SMART
WD40	209	248	2.26e-7	SMART
WD40	259	298	1.7e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164508

SMART Domains

Protein: ENSMUSP00000130417
Gene: ENSMUSG00000045744

Domain	Start	End	E-Value	Type
BRICHOS	44	139	1.15e-37	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000179163

SMART Domains

Protein: ENSMUSP00000136287
Gene: ENSMUSG00000024142

Domain	Start	End	E-Value	Type
Pfam:WD40	8	28	3.7e-3	PFAM
WD40	31	69	1.67e-1	SMART
WD40	74	113	1.19e-6	SMART
WD40	118	156	1.63e-4	SMART
WD40	159	198	4.46e-1	SMART
WD40	209	248	2.26e-7	SMART
WD40	259	298	1.7e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000226654

Meta Mutation Damage Score

0.4899

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	G	8: 44,021,465 (GRCm39)	I675T	probably benign	Het
Adgrb3	A	T	1: 25,133,003 (GRCm39)	M1121K	probably benign	Het
Ak9	A	G	10: 41,233,797 (GRCm39)		probably null	Het
Akr1c6	T	A	13: 4,488,497 (GRCm39)	C34*	probably null	Het
Akt3	G	A	1: 176,859,225 (GRCm39)	P449S	probably damaging	Het
Atg2b	A	T	12: 105,602,047 (GRCm39)	V1643E	probably damaging	Het
Atp2c1	T	C	9: 105,295,778 (GRCm39)	I819V	probably damaging	Het
Casp3	C	T	8: 47,089,301 (GRCm39)	A183V	probably benign	Het
Cdk1	A	T	10: 69,174,358 (GRCm39)	D288E	probably benign	Het
Cep131	G	A	11: 119,956,517 (GRCm39)	R944W	probably damaging	Het
Cep290	A	G	10: 100,399,281 (GRCm39)	K2268E	probably damaging	Het
Crybg2	A	G	4: 133,792,857 (GRCm39)	E164G	probably benign	Het
Cubn	A	C	2: 13,449,064 (GRCm39)		probably null	Het
Dnajc14	A	T	10: 128,652,656 (GRCm39)	E571D	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Eef1b2	A	G	1: 63,217,648 (GRCm39)	E44G	probably benign	Het
Eml6	C	T	11: 29,768,447 (GRCm39)	V747I	probably benign	Het
Ext1	T	G	15: 53,208,550 (GRCm39)	Q70H	probably benign	Het
Gbp2b	T	A	3: 142,303,940 (GRCm39)	C12S	probably damaging	Het
Gbp8	A	C	5: 105,179,093 (GRCm39)	D135E	probably benign	Het
Gm12886	A	T	4: 121,273,916 (GRCm39)	L100*	probably null	Het
Gpatch1	A	T	7: 34,992,983 (GRCm39)		probably null	Het
Ifit3b	A	T	19: 34,588,925 (GRCm39)	M34L	probably benign	Het
Il12a	G	T	3: 68,602,899 (GRCm39)	D160Y	probably damaging	Het
Klhl2	A	G	8: 65,212,816 (GRCm39)	L241P	probably damaging	Het
Krt80	T	C	15: 101,256,610 (GRCm39)	E195G	probably benign	Het
Lgi1	T	C	19: 38,289,738 (GRCm39)	V268A	probably damaging	Het
Lrrfip1	A	T	1: 91,032,850 (GRCm39)	D216V	probably damaging	Het
Meis3	A	G	7: 15,917,789 (GRCm39)	N314S	probably damaging	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myh15	A	T	16: 48,965,451 (GRCm39)	I1119F	possibly damaging	Het
Nav2	A	T	7: 49,141,204 (GRCm39)	Q916H	probably benign	Het
Ncam2	A	T	16: 81,229,606 (GRCm39)	Q22L	probably damaging	Het
Or5b118	A	T	19: 13,448,402 (GRCm39)	I23F	probably benign	Het
P2rx4	G	A	5: 122,865,814 (GRCm39)	V329M	probably damaging	Het
Peg10	A	G	6: 4,754,279 (GRCm39)		probably benign	Het
Pou2af2	G	A	9: 51,201,504 (GRCm39)	T184M	probably damaging	Het
Prdm2	A	C	4: 142,859,520 (GRCm39)	S1257A	probably benign	Het
Prr12	T	C	7: 44,695,164 (GRCm39)	N1434S	unknown	Het
Psmc3ip	A	T	11: 100,985,999 (GRCm39)	H40Q	probably damaging	Het
Ptprc	A	T	1: 138,016,283 (GRCm39)	N526K	probably damaging	Het
Sec63	T	A	10: 42,667,249 (GRCm39)	D138E	probably damaging	Het
Serpinb13	A	G	1: 106,926,663 (GRCm39)	N220D	probably benign	Het
Siva1	G	A	12: 112,611,344 (GRCm39)		probably benign	Het
Slc39a12	A	G	2: 14,454,728 (GRCm39)	H546R	probably damaging	Het
Slc7a1	G	A	5: 148,271,468 (GRCm39)	A497V	probably benign	Het
Smg5	G	T	3: 88,249,859 (GRCm39)	K95N	probably damaging	Het
Speer1a	G	A	5: 11,394,134 (GRCm39)	V78M	probably damaging	Het
Traj50	T	A	14: 54,405,101 (GRCm39)		probably benign	Het
Ubr3	T	C	2: 69,813,472 (GRCm39)	V1261A	probably damaging	Het
Zc3h11a	A	T	1: 133,566,700 (GRCm39)		probably null	Het

Other mutations in Pgp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03259:Pgp	APN	17	24,690,022 (GRCm39)	missense	probably damaging	1.00
R3928:Pgp	UTSW	17	24,690,315 (GRCm39)	missense	probably damaging	0.96
R9494:Pgp	UTSW	17	24,689,809 (GRCm39)	missense	probably damaging	1.00
X0026:Pgp	UTSW	17	24,689,583 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGAACGGCCGTTTCATTGC -3'
(R):5'- TTAACCTTGAAGGGCAGGC -3'

Sequencing Primer
(F):5'- CCGTTTCATTGCGGGTCCG -3'
(R):5'- CAAGAGGTCGGCAATGCTGTC -3'

Posted On

2018-09-12