Mutagenetix > Incidental Mutation

Incidental Mutation 'R4872:Ppat'

426175

Institutional Source

Beutler Lab

Gene Symbol

Ppat

Ensembl Gene

ENSMUSG00000029246

Gene Name

phosphoribosyl pyrophosphate amidotransferase

Synonyms

5730454C12Rik

MMRRC Submission

042482-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R4872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77061096-77099425 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77074640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 65 (K65E)

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

noncoding transcript
Transcript: ENSMUST00000101090

Predicted Effect

probably damaging
Transcript: ENSMUST00000140076
AA Change: K65E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120632
Gene: ENSMUSG00000029246
AA Change: K65E

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

noncoding transcript
Transcript: ENSMUST00000145897

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

0.7372

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	C	A	15: 91,075,514 (GRCm39)	V100L	probably benign	Het
Acad11	G	A	9: 103,963,465 (GRCm39)		probably benign	Het
Actb	C	T	5: 142,891,307 (GRCm39)		probably benign	Het
Ano9	G	A	7: 140,687,117 (GRCm39)	A374V	probably damaging	Het
Baz2b	T	C	2: 59,773,103 (GRCm39)		probably null	Het
Bltp3a	G	T	17: 28,109,110 (GRCm39)	D1110Y	probably benign	Het
Bpifb9b	T	A	2: 154,155,551 (GRCm39)	L350Q	probably damaging	Het
Cd27	T	A	6: 125,211,281 (GRCm39)		probably null	Het
Cd72	A	G	4: 43,449,563 (GRCm39)		probably benign	Het
Cdadc1	A	T	14: 59,801,973 (GRCm39)	S516T	probably benign	Het
Chst5	T	A	8: 112,617,192 (GRCm39)	I143F	possibly damaging	Het
Col20a1	T	C	2: 180,639,156 (GRCm39)	V452A	possibly damaging	Het
Cox11	C	A	11: 90,535,229 (GRCm39)	Q227K	probably benign	Het
Cpa6	A	G	1: 10,665,843 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dpm2	T	C	2: 32,461,203 (GRCm39)		probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Frem1	A	C	4: 82,881,387 (GRCm39)	N1273K	probably damaging	Het
Fry	T	C	5: 150,317,704 (GRCm39)		probably null	Het
Gm10306	G	T	4: 94,445,069 (GRCm39)		probably benign	Het
Gm5565	T	C	5: 146,094,913 (GRCm39)	T278A	probably benign	Het
Gm8180	A	G	14: 44,019,802 (GRCm39)	I40T	probably benign	Het
Iah1	T	C	12: 21,367,426 (GRCm39)	V44A	probably benign	Het
Iqgap3	C	T	3: 88,020,435 (GRCm39)	P360S	probably damaging	Het
Klhl28	T	A	12: 65,003,896 (GRCm39)	I206F	possibly damaging	Het
Krt13	A	G	11: 100,012,332 (GRCm39)		probably benign	Het
Lipo2	T	A	19: 33,726,914 (GRCm39)	D41V	probably benign	Het
Lrig2	C	G	3: 104,398,842 (GRCm39)	V229L	possibly damaging	Het
Lrrc32	C	T	7: 98,147,727 (GRCm39)	T169I	probably damaging	Het
Lrriq1	T	C	10: 103,014,649 (GRCm39)	N1053S	possibly damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mgat4c	G	C	10: 102,224,599 (GRCm39)	R271P	probably damaging	Het
Mylk	A	G	16: 34,735,360 (GRCm39)	N780S	possibly damaging	Het
N4bp1	T	C	8: 87,587,676 (GRCm39)	T421A	probably benign	Het
Nat8f1	T	C	6: 85,887,295 (GRCm39)	T222A	probably benign	Het
Nsun2	T	C	13: 69,691,992 (GRCm39)		probably benign	Het
Oas2	T	A	5: 120,876,599 (GRCm39)	D448V	probably damaging	Het
Or10al7	C	A	17: 38,366,467 (GRCm39)	V6F	probably benign	Het
Or2l13b	A	T	16: 19,349,383 (GRCm39)	C96S	probably damaging	Het
Or5ak22	T	C	2: 85,230,772 (GRCm39)	Y35C	probably damaging	Het
Pgm2l1	T	A	7: 99,877,204 (GRCm39)	L25Q	probably damaging	Het
Pigp	A	T	16: 94,166,309 (GRCm39)	V133D	probably benign	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Pomt2	C	T	12: 87,156,881 (GRCm39)	D752N	possibly damaging	Het
Ptprn2	T	C	12: 117,125,314 (GRCm39)	L616P	probably damaging	Het
Rad54l2	A	G	9: 106,595,091 (GRCm39)	S289P	probably damaging	Het
Rbm39	G	A	2: 156,019,266 (GRCm39)	R31C	possibly damaging	Het
Rhbdf2	C	A	11: 116,492,771 (GRCm39)	V417L	probably benign	Het
Rnf157	T	A	11: 116,246,298 (GRCm39)	E255D	possibly damaging	Het
Rpl6l	A	T	10: 110,962,304 (GRCm39)		noncoding transcript	Het
Sec24c	A	G	14: 20,743,813 (GRCm39)	D1006G	probably damaging	Het
Sh3bp1	G	T	15: 78,792,237 (GRCm39)	A401S	probably benign	Het
Slc17a8	A	T	10: 89,412,367 (GRCm39)	D539E	probably benign	Het
Slc38a9	T	A	13: 112,826,098 (GRCm39)	S136R	probably damaging	Het
Smoc2	A	C	17: 14,589,295 (GRCm39)	T255P	probably benign	Het
Smyd2	T	C	1: 189,628,847 (GRCm39)	D152G	probably damaging	Het
Stab1	A	G	14: 30,862,350 (GRCm39)	V2328A	probably damaging	Het
Taar2	A	G	10: 23,816,591 (GRCm39)	I44V	probably benign	Het
Tbc1d4	T	C	14: 101,682,144 (GRCm39)	K1251E	probably benign	Het
Thada	G	A	17: 84,754,027 (GRCm39)	L315F	probably damaging	Het
Trbv14	T	C	6: 41,112,259 (GRCm39)	S19P	probably benign	Het
Ttc39c	T	C	18: 12,820,173 (GRCm39)		probably benign	Het
Ttc39d	A	G	17: 80,524,527 (GRCm39)	I395M	probably benign	Het
Ttn	T	C	2: 76,548,728 (GRCm39)	E31891G	probably damaging	Het
Ubr3	T	C	2: 69,800,527 (GRCm39)	V950A	probably damaging	Het
Usp9y	T	A	Y: 1,307,920 (GRCm39)	K2305N	probably damaging	Het
Vmn1r158	G	A	7: 22,490,179 (GRCm39)	T10I	possibly damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vmn2r78	T	A	7: 86,603,916 (GRCm39)	I698K	possibly damaging	Het
Vmn2r86	G	T	10: 130,289,460 (GRCm39)	T145K	probably damaging	Het
Zfp51	T	C	17: 21,684,933 (GRCm39)	V516A	probably benign	Het
Zfp654	A	T	16: 64,606,145 (GRCm39)	S686T	probably benign	Het
Zfp846	T	A	9: 20,502,111 (GRCm39)	C55S	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
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
R5982:Ppat	UTSW	5	77,063,112 (GRCm39)	missense	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'- CACGCCATTGGAAGCAGATTTATC -3'
(R):5'- AGCCTCTCAGCTTATGGGTTCC -3'

Sequencing Primer
(F):5'- GCTTGCTTACTTAGAAACAGGGTC -3'
(R):5'- CTCTCAGCTTATGGGTTCCTTTGG -3'

Posted On

2016-08-16