Mutagenetix > Incidental Mutation

Incidental Mutation 'R4422:Ppat'

327136

Institutional Source

Beutler Lab

Gene Symbol

Ppat

Ensembl Gene

ENSMUSG00000029246

Gene Name

phosphoribosyl pyrophosphate amidotransferase

Synonyms

5730454C12Rik

MMRRC Submission

041695-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R4422 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77061096-77099425 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77063061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 517 (W517R)

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 damaging
Transcript: ENSMUST00000140076
AA Change: W517R

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

SMART Domains

Protein: ENSMUSP00000120632
Gene: ENSMUSG00000029246
AA Change: W517R

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

0.6552

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (67/70)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	T	C	2: 26,895,412 (GRCm39)	S1168P	probably benign	Het
Adgrf2	T	C	17: 43,024,046 (GRCm39)	M142V	probably benign	Het
Akna	G	T	4: 63,305,330 (GRCm39)	Q479K	possibly damaging	Het
Arhgef9	T	G	X: 94,144,670 (GRCm39)	I131L	possibly damaging	Het
AW551984	A	T	9: 39,511,373 (GRCm39)	C111S	probably null	Het
Bak1	C	A	17: 27,240,298 (GRCm39)	G130W	probably damaging	Het
Bank1	T	A	3: 135,788,972 (GRCm39)	Q441L	probably damaging	Het
C030034I22Rik	T	C	17: 69,725,153 (GRCm39)		noncoding transcript	Het
Capns2	T	A	8: 93,628,252 (GRCm39)	I47N	possibly damaging	Het
Cct7	A	G	6: 85,444,127 (GRCm39)	R355G	probably damaging	Het
Cd19	C	T	7: 126,012,578 (GRCm39)	V272I	probably benign	Het
Cenpf	A	G	1: 189,390,547 (GRCm39)	L1095S	probably damaging	Het
Cep44	G	A	8: 56,991,652 (GRCm39)	P317S	probably benign	Het
Chrm3	A	T	13: 9,928,591 (GRCm39)	Y148*	probably null	Het
Chrnb3	T	C	8: 27,886,761 (GRCm39)	V445A	possibly damaging	Het
Col4a4	T	A	1: 82,467,559 (GRCm39)	M852L	unknown	Het
Dhx29	T	C	13: 113,083,781 (GRCm39)	L612P	probably damaging	Het
Dlgap2	T	C	8: 14,793,463 (GRCm39)		probably null	Het
Dnah17	T	C	11: 117,972,799 (GRCm39)	T2045A	possibly damaging	Het
Dync1li1	A	G	9: 114,538,377 (GRCm39)	T245A	probably damaging	Het
Epha4	T	C	1: 77,488,354 (GRCm39)	E42G	probably damaging	Het
Fam120b	C	A	17: 15,622,445 (GRCm39)	T141K	probably damaging	Het
Fhod1	T	C	8: 106,063,983 (GRCm39)		probably benign	Het
Gcnt2	T	G	13: 41,014,001 (GRCm39)	Y57*	probably null	Het
Gm5409	C	T	6: 41,396,519 (GRCm39)		noncoding transcript	Het
Hip1r	A	G	5: 124,135,069 (GRCm39)	K402E	possibly damaging	Het
Hlcs	G	A	16: 93,939,819 (GRCm39)	P506L	possibly damaging	Het
Itih4	T	A	14: 30,611,821 (GRCm39)	F142I	probably damaging	Het
Krt78	T	C	15: 101,856,375 (GRCm39)	T479A	probably benign	Het
Lamb2	A	G	9: 108,360,754 (GRCm39)	D518G	probably damaging	Het
Ldlr	G	A	9: 21,649,248 (GRCm39)	C341Y	probably damaging	Het
Lsr	G	T	7: 30,665,422 (GRCm39)	N177K	probably benign	Het
Macf1	G	A	4: 123,359,839 (GRCm39)	S1815F	probably damaging	Het
Mms22l	T	C	4: 24,503,008 (GRCm39)	S95P	probably damaging	Het
Mon2	A	G	10: 122,878,887 (GRCm39)	L218P	probably damaging	Het
Nlrp4f	C	T	13: 65,332,776 (GRCm39)		probably null	Het
Nrde2	G	A	12: 100,112,286 (GRCm39)	Q137*	probably null	Het
Or12e10	C	A	2: 87,640,989 (GRCm39)	T275K	probably damaging	Het
Or51l14	G	T	7: 103,101,450 (GRCm39)	R302L	probably damaging	Het
Or6z7	G	T	7: 6,484,037 (GRCm39)	Y39*	probably null	Het
Phf24	G	A	4: 42,934,817 (GRCm39)	C151Y	probably damaging	Het
Pik3r1	T	G	13: 101,830,892 (GRCm39)	N3T	probably benign	Het
Plcb2	T	C	2: 118,542,484 (GRCm39)	K821E	probably benign	Het
Prelid2	T	C	18: 42,045,461 (GRCm39)	T150A	probably benign	Het
Psg21	A	G	7: 18,381,257 (GRCm39)	S429P	probably damaging	Het
Reg4	T	C	3: 98,140,360 (GRCm39)	Y114H	possibly damaging	Het
Rsbn1l	G	T	5: 21,101,544 (GRCm39)	H665Q	probably damaging	Het
Rspo2	T	C	15: 43,033,150 (GRCm39)	N24S	probably benign	Het
Ryr2	G	T	13: 11,731,952 (GRCm39)	C2329*	probably null	Het
Skint2	T	A	4: 112,441,785 (GRCm39)		probably benign	Het
Spmap2l	T	C	5: 77,202,383 (GRCm39)	I268T	possibly damaging	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Tmem53	T	C	4: 117,123,149 (GRCm39)	Y37H	probably damaging	Het
Tmem59l	G	A	8: 70,938,749 (GRCm39)	R111W	probably damaging	Het
Tnks2	G	A	19: 36,823,053 (GRCm39)	V107I	probably damaging	Het
Tpcn1	T	C	5: 120,680,583 (GRCm39)	K549R	probably damaging	Het
Tubgcp4	T	A	2: 121,019,882 (GRCm39)	L404*	probably null	Het
Vmn2r86	T	C	10: 130,288,845 (GRCm39)	I219V	possibly damaging	Het
Vsig10	T	C	5: 117,462,986 (GRCm39)	S71P	probably benign	Het
Wnk1	T	C	6: 119,930,856 (GRCm39)	N896S	probably benign	Het
Zfp871	T	A	17: 32,993,808 (GRCm39)	S437C	probably benign	Het
Zfp871	C	A	17: 32,993,807 (GRCm39)	S456I	probably benign	Het
Zfp873	A	G	10: 81,896,708 (GRCm39)	T480A	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
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
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'- GCCTTCTCTCGAGTGAAAAGTC -3'
(R):5'- TCTGTCAGTGGAAGGACTGG -3'

Sequencing Primer
(F):5'- AATGAATCCTCAGATGCTGCATTCC -3'
(R):5'- GACTGGTTTCATCTGTGCAACAAG -3'

Posted On

2015-07-07