Mutagenetix > Incidental Mutation

Incidental Mutation 'R8047:Ppat'

618806

Institutional Source

Beutler Lab

Gene Symbol

Ppat

Ensembl Gene

ENSMUSG00000029246

Gene Name

phosphoribosyl pyrophosphate amidotransferase

Synonyms

MMRRC Submission

067484-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R8047 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76913249-76951578 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 76925710 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 122 (N122K)

Ref Sequence

ENSEMBL: ENSMUSP00000120632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000140076] [ENSMUST00000155272]

AlphaFold

Q8CIH9

Predicted Effect

probably damaging
Transcript: ENSMUST00000140076
AA Change: N122K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120632
Gene: ENSMUSG00000029246
AA Change: N122K

Domain	Start	End	E-Value	Type
Pfam:GATase_4	27	218	4e-11	PFAM
Pfam:GATase_6	74	216	1.6e-18	PFAM
Pfam:GATase_7	91	241	1.6e-16	PFAM
Pfam:Pribosyltran	309	420	1.3e-9	PFAM
low complexity region	474	482	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155272

SMART Domains

Protein: ENSMUSP00000116438
Gene: ENSMUSG00000029246

Domain	Start	End	E-Value	Type
SCOP:d1ecfa2	12	43	6e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. It is a regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide biosythetic pathway. This gene and PAICS/AIRC gene, a bifunctional enzyme catalyzing steps six and seven of this pathway, are located in close proximity on chromosome 4, and divergently transcribed from an intergenic region. [provided by RefSeq, Mar 2011]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 79,701,188 (GRCm38)	T157I	possibly damaging	Het
Cd200l2	T	C	16: 45,520,466 (GRCm38)	I245V	probably benign	Het
Cdh22	G	A	2: 165,170,767 (GRCm38)	R133W	probably damaging	Het
Cep152	A	T	2: 125,564,327 (GRCm38)	N1428K	probably benign	Het
Clstn3	T	A	6: 124,432,013 (GRCm38)	D892V	possibly damaging	Het
Coch	G	A	12: 51,603,713 (GRCm38)		probably null	Het
D6Ertd527e	G	T	6: 87,111,472 (GRCm38)	V206F	unknown	Het
Dnaaf9	A	T	2: 130,775,099 (GRCm38)	V439E	probably damaging	Het
Dock3	T	C	9: 106,993,009 (GRCm38)	I625M	possibly damaging	Het
Dpy19l4	A	G	4: 11,317,139 (GRCm38)	S20P	probably benign	Het
Eef1e1	T	C	13: 38,646,246 (GRCm38)	Q150R	probably damaging	Het
Eln	CTCCAGCTCCGAT	C	5: 134,729,149 (GRCm38)		probably benign	Het
Engase	T	C	11: 118,486,456 (GRCm38)	S526P	probably benign	Het
Fbxo40	T	A	16: 36,969,869 (GRCm38)	D293V	probably damaging	Het
Gipc3	T	A	10: 81,341,298 (GRCm38)	N146I	probably damaging	Het
Gm11569	T	C	11: 99,798,790 (GRCm38)	T28A	unknown	Het
Gm43302	T	C	5: 105,274,757 (GRCm38)	I470V	possibly damaging	Het
Gpihbp1	A	G	15: 75,597,778 (GRCm38)	Q114R	possibly damaging	Het
Grhl2	T	A	15: 37,336,221 (GRCm38)	M454K	probably benign	Het
Gsap	A	T	5: 21,257,868 (GRCm38)		probably null	Het
Ighv6-5	T	C	12: 114,416,571 (GRCm38)		probably null	Het
Kif1b	C	A	4: 149,214,922 (GRCm38)	V1010L	probably damaging	Het
Krt8	A	T	15: 102,003,971 (GRCm38)	I90N	probably damaging	Het
Lrrc69	A	T	4: 14,773,726 (GRCm38)	I110N	probably benign	Het
Lta	T	C	17: 35,204,035 (GRCm38)	Y104C	probably damaging	Het
Madd	A	G	2: 91,179,201 (GRCm38)	Y13H	probably damaging	Het
Mccc2	C	T	13: 99,954,673 (GRCm38)	V439I	probably benign	Het
Mecom	T	A	3: 30,238,255 (GRCm38)	D35V		Het
Msra	C	T	14: 64,285,163 (GRCm38)	A76T	probably damaging	Het
Myo18b	G	T	5: 112,723,815 (GRCm38)	D2133E	possibly damaging	Het
Ncapd2	C	T	6: 125,189,799 (GRCm38)	V31M	probably damaging	Het
Npc1	A	G	18: 12,213,317 (GRCm38)	V274A	probably benign	Het
Or5m11b	T	C	2: 85,975,927 (GRCm38)	I228T	possibly damaging	Het
Patz1	C	T	11: 3,306,283 (GRCm38)	P523L	probably benign	Het
Pbx2	T	C	17: 34,595,288 (GRCm38)	S350P	probably benign	Het
Plk4	T	C	3: 40,805,752 (GRCm38)	I361T	probably benign	Het
Prss23	T	A	7: 89,509,928 (GRCm38)	Q311L	probably damaging	Het
Psg26	G	T	7: 18,478,549 (GRCm38)	Q294K	possibly damaging	Het
Rab3il1	G	T	19: 10,033,802 (GRCm38)	R285L	probably benign	Het
Radil	A	G	5: 142,494,940 (GRCm38)	C587R	probably damaging	Het
Rd3	A	T	1: 191,977,659 (GRCm38)		probably benign	Het
Reck	T	C	4: 43,927,221 (GRCm38)	L504P	probably damaging	Het
Rmc1	C	T	18: 12,180,529 (GRCm38)	T233M	possibly damaging	Het
Selenov	A	C	7: 28,290,683 (GRCm38)	L132R	probably benign	Het
Spag16	A	T	1: 69,842,996 (GRCm38)	D49V	probably damaging	Het
Ston2	C	T	12: 91,641,843 (GRCm38)	V828I	probably damaging	Het
Tiam1	A	G	16: 89,897,784 (GRCm38)	S262P	probably benign	Het
Tlnrd1	A	T	7: 83,882,861 (GRCm38)	S121T	probably damaging	Het
Unc13c	T	A	9: 73,812,354 (GRCm38)	K1011*	probably null	Het
Vmn2r89	T	A	14: 51,455,092 (GRCm38)	D117E	probably benign	Het
Zbtb7c	A	C	18: 76,137,150 (GRCm38)	N103T	probably damaging	Het
Zfp764	T	C	7: 127,406,240 (GRCm38)	E75G	probably damaging	Het

Other mutations in Ppat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02545:Ppat	APN	5	76,915,232 (GRCm38)	missense	probably damaging	1.00
IGL02679:Ppat	APN	5	76,919,469 (GRCm38)	missense	probably benign	0.10
R0836:Ppat	UTSW	5	76,922,501 (GRCm38)	missense	probably benign	0.09
R2327:Ppat	UTSW	5	76,922,467 (GRCm38)	missense	possibly damaging	0.94
R2850:Ppat	UTSW	5	76,919,375 (GRCm38)	missense	probably benign
R3434:Ppat	UTSW	5	76,918,065 (GRCm38)	missense	probably damaging	0.99
R4301:Ppat	UTSW	5	76,928,501 (GRCm38)	intron	probably benign
R4422:Ppat	UTSW	5	76,915,214 (GRCm38)	missense	probably damaging	1.00
R4423:Ppat	UTSW	5	76,915,214 (GRCm38)	missense	probably damaging	1.00
R4424:Ppat	UTSW	5	76,915,214 (GRCm38)	missense	probably damaging	1.00
R4839:Ppat	UTSW	5	76,950,964 (GRCm38)	nonsense	probably null
R4872:Ppat	UTSW	5	76,926,793 (GRCm38)	missense	probably damaging	0.99
R5007:Ppat	UTSW	5	76,928,678 (GRCm38)	intron	probably benign
R5010:Ppat	UTSW	5	76,928,678 (GRCm38)	intron	probably benign
R5325:Ppat	UTSW	5	76,928,422 (GRCm38)	intron	probably benign
R5982:Ppat	UTSW	5	76,915,265 (GRCm38)	missense	probably benign
R6209:Ppat	UTSW	5	76,918,146 (GRCm38)	missense	probably benign	0.00
R6225:Ppat	UTSW	5	76,922,355 (GRCm38)	missense	probably damaging	0.99
R6287:Ppat	UTSW	5	76,918,214 (GRCm38)	nonsense	probably null
R7367:Ppat	UTSW	5	76,919,864 (GRCm38)	nonsense	probably null
R7426:Ppat	UTSW	5	76,915,979 (GRCm38)	missense	probably damaging	0.99
R7945:Ppat	UTSW	5	76,915,391 (GRCm38)	missense	probably benign	0.01
R9343:Ppat	UTSW	5	76,916,037 (GRCm38)	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- AAAGTGGCACTGCTCCGATC -3'
(R):5'- AGGGAATGGGTCTTGTAAACCATG -3'

Sequencing Primer
(F):5'- TCCGATCACTTGGGGAGTAC -3'
(R):5'- GGTCTTGTAAACCATGTTTTTACCG -3'

Posted On

2020-01-23