Mutagenetix > Incidental Mutation

Incidental Mutation 'R5982:Ppat'

481444

Institutional Source

Beutler Lab

Gene Symbol

Ppat

Ensembl Gene

ENSMUSG00000029246

Gene Name

phosphoribosyl pyrophosphate amidotransferase

Synonyms

5730454C12Rik

MMRRC Submission

044163-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R5982 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77061096-77099425 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77063112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 500 (T500A)

Ref Sequence

ENSEMBL: ENSMUSP00000120632 (fasta)

Gene Model

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

AlphaFold

Q8CIH9

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000031158

Predicted Effect

probably benign
Transcript: ENSMUST00000140076
AA Change: T500A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120632
Gene: ENSMUSG00000029246
AA Change: T500A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

98% (81/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,844,423 (GRCm39)	E931D	possibly damaging	Het
Aebp1	C	T	11: 5,817,911 (GRCm39)	T62I	possibly damaging	Het
Babam2	A	T	5: 31,977,964 (GRCm39)	E139V	possibly damaging	Het
Bclaf1	C	T	10: 20,198,809 (GRCm39)	R67*	probably null	Het
Bcr	C	A	10: 75,012,248 (GRCm39)	T51K	probably benign	Het
Best3	T	A	10: 116,840,322 (GRCm39)	C251S	probably damaging	Het
Birc6	A	G	17: 74,955,153 (GRCm39)	M3457V	probably benign	Het
C87436	C	A	6: 86,422,957 (GRCm39)	T177K	possibly damaging	Het
Cabin1	T	A	10: 75,561,394 (GRCm39)	T1036S	probably benign	Het
Catsperg2	C	A	7: 29,412,442 (GRCm39)	V383L	possibly damaging	Het
Ccdc182	C	T	11: 88,185,165 (GRCm39)	Q82*	probably null	Het
Ccl9	T	C	11: 83,466,700 (GRCm39)	T76A	probably damaging	Het
Cdc16	G	T	8: 13,831,399 (GRCm39)	C544F	possibly damaging	Het
Cdh18	A	C	15: 23,474,302 (GRCm39)	D724A	possibly damaging	Het
Cdip1	G	A	16: 4,587,946 (GRCm39)	P6S	probably damaging	Het
Col12a1	A	G	9: 79,537,842 (GRCm39)	V2542A	probably damaging	Het
Dnajc13	G	T	9: 104,061,814 (GRCm39)	T1380K	possibly damaging	Het
Dsg4	T	A	18: 20,598,226 (GRCm39)	S715T	possibly damaging	Het
Dync2h1	G	T	9: 6,955,986 (GRCm39)	T4132K	probably benign	Het
Egfem1	A	T	3: 29,711,419 (GRCm39)		probably null	Het
Etl4	G	T	2: 20,785,826 (GRCm39)	V716L	probably damaging	Het
Exoc3l2	A	G	7: 19,213,957 (GRCm39)	E461G	unknown	Het
Fam135b	A	G	15: 71,320,518 (GRCm39)		probably null	Het
Flrt3	G	T	2: 140,502,836 (GRCm39)	P264Q	possibly damaging	Het
Fmn2	G	C	1: 174,330,019 (GRCm39)	E136D	unknown	Het
Fosl2	A	G	5: 32,304,217 (GRCm39)	I51V	probably benign	Het
Foxm1	A	G	6: 128,347,998 (GRCm39)	T307A	probably damaging	Het
Garem1	T	C	18: 21,281,408 (GRCm39)	D316G	possibly damaging	Het
Gm14403	A	T	2: 177,200,345 (GRCm39)	H97L	probably damaging	Het
Gm5616	A	G	9: 48,361,890 (GRCm39)		noncoding transcript	Het
Hkdc1	T	C	10: 62,229,589 (GRCm39)	D696G	probably benign	Het
Igkv1-88	C	A	6: 68,839,432 (GRCm39)	W60L	probably damaging	Het
Iqgap3	G	A	3: 87,998,899 (GRCm39)	W333*	probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnk3	G	T	5: 30,780,014 (GRCm39)	V355L	probably benign	Het
Kmt5c	A	C	7: 4,749,790 (GRCm39)	K436T	probably damaging	Het
Lynx1	T	C	15: 74,623,264 (GRCm39)	Y56C	possibly damaging	Het
Lypd5	T	C	7: 24,052,462 (GRCm39)	S149P	probably damaging	Het
Map3k21	A	T	8: 126,638,169 (GRCm39)	N252Y	probably damaging	Het
Mgat2	T	C	12: 69,232,454 (GRCm39)	W343R	probably damaging	Het
Misp	T	G	10: 79,663,728 (GRCm39)	Y567*	probably null	Het
Mrgprb1	A	T	7: 48,097,568 (GRCm39)	S115T	probably benign	Het
Muc16	A	C	9: 18,558,442 (GRCm39)	I2617R	unknown	Het
Myo19	T	A	11: 84,790,226 (GRCm39)	V394E	probably damaging	Het
Myo9b	T	A	8: 71,801,040 (GRCm39)	L1065Q	probably benign	Het
Nap1l1	A	G	10: 111,331,229 (GRCm39)	D405G	possibly damaging	Het
Napb	A	T	2: 148,542,411 (GRCm39)		probably null	Het
Nbas	A	G	12: 13,443,431 (GRCm39)	Y1162C	probably benign	Het
Nfam1	A	T	15: 82,917,325 (GRCm39)	L36Q	probably damaging	Het
Nrros	T	C	16: 31,963,411 (GRCm39)	D202G	probably damaging	Het
Or51k1	T	G	7: 103,661,117 (GRCm39)	H264P	probably damaging	Het
Or7a39	T	G	10: 78,715,787 (GRCm39)	Y260*	probably null	Het
Osgin2	T	C	4: 15,998,908 (GRCm39)	E238G	probably benign	Het
Papss2	A	G	19: 32,616,636 (GRCm39)	T221A	probably benign	Het
Pcdhga12	A	C	18: 37,901,084 (GRCm39)	K639Q	probably damaging	Het
Pkhd1l1	T	A	15: 44,352,900 (GRCm39)		probably null	Het
Pmepa1	A	G	2: 173,076,105 (GRCm39)	S83P	possibly damaging	Het
Pnp	G	A	14: 51,188,000 (GRCm39)	V118M	probably damaging	Het
Pramel22	C	A	4: 143,381,034 (GRCm39)	V330F	probably damaging	Het
Rab11fip4	A	G	11: 79,581,601 (GRCm39)	N532S	probably benign	Het
Rbm25	A	G	12: 83,718,725 (GRCm39)	D499G	probably damaging	Het
Rnf139	A	G	15: 58,770,687 (GRCm39)	I237M	possibly damaging	Het
Rrp15	C	T	1: 186,471,952 (GRCm39)	S85N	possibly damaging	Het
Sidt1	T	C	16: 44,082,071 (GRCm39)	Y568C	probably damaging	Het
Slirp	A	G	12: 87,490,784 (GRCm39)	T29A	probably damaging	Het
Sltm	G	C	9: 70,494,086 (GRCm39)	E828Q	probably damaging	Het
Spindoc	A	G	19: 7,351,960 (GRCm39)	I129T	probably damaging	Het
Spire1	T	A	18: 67,630,386 (GRCm39)		probably null	Het
Styx	A	G	14: 45,605,909 (GRCm39)	T138A	probably benign	Het
Sv2c	A	T	13: 96,112,571 (GRCm39)	L642*	probably null	Het
Taf7	T	C	18: 37,776,498 (GRCm39)	E23G	probably damaging	Het
Tcp10a	A	T	17: 7,612,425 (GRCm39)	T406S	possibly damaging	Het
Tnrc6b	T	A	15: 80,765,017 (GRCm39)	S840T	probably benign	Het
Tns3	A	G	11: 8,442,245 (GRCm39)	I706T	probably damaging	Het
Tpsab1	A	G	17: 25,564,346 (GRCm39)	V36A	probably benign	Het
Trafd1	T	A	5: 121,511,342 (GRCm39)	D492V	probably damaging	Het
Trp53	A	G	11: 69,478,244 (GRCm39)	E51G	probably benign	Het
Vdr	C	T	15: 97,755,477 (GRCm39)	A349T	probably benign	Het
Vmn2r59	T	C	7: 41,695,491 (GRCm39)	D307G	probably benign	Het
Zfp365	C	A	10: 67,733,437 (GRCm39)	V252F	probably damaging	Het
Zfp830	T	A	11: 82,655,803 (GRCm39)	N202K	probably benign	Het

Other mutations in Ppat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02545:Ppat	APN	5	77,063,079 (GRCm39)	missense	probably damaging	1.00
IGL02679:Ppat	APN	5	77,067,316 (GRCm39)	missense	probably benign	0.10
R0836:Ppat	UTSW	5	77,070,348 (GRCm39)	missense	probably benign	0.09
R2327:Ppat	UTSW	5	77,070,314 (GRCm39)	missense	possibly damaging	0.94
R2850:Ppat	UTSW	5	77,067,222 (GRCm39)	missense	probably benign
R3434:Ppat	UTSW	5	77,065,912 (GRCm39)	missense	probably damaging	0.99
R4301:Ppat	UTSW	5	77,076,348 (GRCm39)	intron	probably benign
R4422:Ppat	UTSW	5	77,063,061 (GRCm39)	missense	probably damaging	1.00
R4423:Ppat	UTSW	5	77,063,061 (GRCm39)	missense	probably damaging	1.00
R4424:Ppat	UTSW	5	77,063,061 (GRCm39)	missense	probably damaging	1.00
R4839:Ppat	UTSW	5	77,098,811 (GRCm39)	nonsense	probably null
R4872:Ppat	UTSW	5	77,074,640 (GRCm39)	missense	probably damaging	0.99
R5007:Ppat	UTSW	5	77,076,525 (GRCm39)	intron	probably benign
R5010:Ppat	UTSW	5	77,076,525 (GRCm39)	intron	probably benign
R5325:Ppat	UTSW	5	77,076,269 (GRCm39)	intron	probably benign
R6209:Ppat	UTSW	5	77,065,993 (GRCm39)	missense	probably benign	0.00
R6225:Ppat	UTSW	5	77,070,202 (GRCm39)	missense	probably damaging	0.99
R6287:Ppat	UTSW	5	77,066,061 (GRCm39)	nonsense	probably null
R7367:Ppat	UTSW	5	77,067,711 (GRCm39)	nonsense	probably null
R7426:Ppat	UTSW	5	77,063,826 (GRCm39)	missense	probably damaging	0.99
R7945:Ppat	UTSW	5	77,063,238 (GRCm39)	missense	probably benign	0.01
R8047:Ppat	UTSW	5	77,073,557 (GRCm39)	missense	probably damaging	1.00
R9343:Ppat	UTSW	5	77,063,884 (GRCm39)	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- GCTGCATTCCATGTAATCTTCAGG -3'
(R):5'- GGTGAGACATGTTTTCCCTTCC -3'

Sequencing Primer
(F):5'- ACCTCAGAAAATCTCAAAGCTTAAAG -3'
(R):5'- GAGACATGTTTTCCCTTCCTCCTG -3'

Posted On

2017-06-26