Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00754:Aprt'

9004

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aprt

Ensembl Gene

ENSMUSG00000006589

Gene Name

adenine phosphoribosyl transferase

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.536) question?

Stock #

IGL00754

Quality Score

Status

Chromosome

Chromosomal Location

123301376-123303646 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123302232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 77 (Q77R)

Ref Sequence

ENSEMBL: ENSMUSP00000006764 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006760] [ENSMUST00000006764] [ENSMUST00000015171] [ENSMUST00000127664] [ENSMUST00000211823] [ENSMUST00000213029] [ENSMUST00000213062] [ENSMUST00000212093] [ENSMUST00000212319]

AlphaFold

P08030

Predicted Effect

probably benign
Transcript: ENSMUST00000006760

SMART Domains

Protein: ENSMUSP00000006760
Gene: ENSMUSG00000006585

Domain	Start	End	E-Value	Type
low complexity region	41	52	N/A	INTRINSIC
low complexity region	59	70	N/A	INTRINSIC
low complexity region	72	108	N/A	INTRINSIC
CDT1	199	362	3.68e-91	SMART
low complexity region	401	427	N/A	INTRINSIC
Pfam:CDT1_C	431	525	1.4e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000006764
AA Change: Q77R

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000006764
Gene: ENSMUSG00000006589
AA Change: Q77R

Domain	Start	End	E-Value	Type
Pfam:Pribosyltran	28	178	2.3e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000015171

SMART Domains

Protein: ENSMUSP00000015171
Gene: ENSMUSG00000015027

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Sulfatase	28	353	2.3e-91	PFAM
Pfam:Phosphodiest	30	315	2.1e-11	PFAM
Pfam:Sulfatase_C	376	507	2.4e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211810

Predicted Effect

probably benign
Transcript: ENSMUST00000211823

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211906

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213017

Predicted Effect

probably benign
Transcript: ENSMUST00000213029

Predicted Effect

probably benign
Transcript: ENSMUST00000213062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212821

Predicted Effect

probably benign
Transcript: ENSMUST00000212093

Predicted Effect

probably benign
Transcript: ENSMUST00000212319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213030

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygous null mutants may die by 6 months of age with highly abnormal kidney morphology and kidney tubule obstructions depending on the genetic background. Mice have elevated urinary 2,8-hydroxyadenine and crystalline deposits in kidney. Severity varies by genetic background. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	G	A	10: 20,848,040 (GRCm39)	G483R	probably damaging	Het
Ano1	T	C	7: 144,150,968 (GRCm39)	I816V	probably damaging	Het
Bcas3	T	A	11: 85,386,649 (GRCm39)		probably benign	Het
Casp8ap2	A	G	4: 32,641,036 (GRCm39)	M697V	probably benign	Het
Cgas	G	A	9: 78,342,770 (GRCm39)	P344L	probably damaging	Het
Chrnd	A	C	1: 87,123,506 (GRCm39)	E348A	probably benign	Het
Ctnnbl1	A	T	2: 157,661,461 (GRCm39)	S324C	possibly damaging	Het
Dgkb	C	A	12: 38,488,567 (GRCm39)	N644K	probably benign	Het
Dnajc13	A	T	9: 104,051,697 (GRCm39)	L1720*	probably null	Het
Ehbp1	A	G	11: 22,197,967 (GRCm39)		probably benign	Het
Eif1b	G	T	9: 120,323,686 (GRCm39)	C94F	probably benign	Het
Fmnl3	G	A	15: 99,220,551 (GRCm39)	T577I	probably damaging	Het
Gm28042	G	A	2: 119,860,837 (GRCm39)	G96R	probably damaging	Het
Hcrtr1	A	G	4: 130,031,026 (GRCm39)	V86A	probably damaging	Het
Klrc3	A	T	6: 129,618,389 (GRCm39)	S131R	probably damaging	Het
Mboat4	A	G	8: 34,591,708 (GRCm39)	T382A	probably benign	Het
Oosp1	A	T	19: 11,645,069 (GRCm39)	H198Q	possibly damaging	Het
Parp14	T	C	16: 35,659,741 (GRCm39)	D1627G	probably benign	Het
Pdcd11	T	A	19: 47,092,221 (GRCm39)	F406I	possibly damaging	Het
Ppara	T	C	15: 85,661,843 (GRCm39)	L28S	probably damaging	Het
Samd3	A	G	10: 26,120,425 (GRCm39)	T140A	probably benign	Het
Sf3b1	A	G	1: 55,026,645 (GRCm39)	F1255L	probably damaging	Het
Stard6	T	A	18: 70,616,559 (GRCm39)	S73T	probably benign	Het
Tnip2	T	C	5: 34,656,643 (GRCm39)	I221V	probably benign	Het
Ttn	A	G	2: 76,612,429 (GRCm39)	I8859T	possibly damaging	Het
Ube3b	T	C	5: 114,553,348 (GRCm39)	S907P	possibly damaging	Het
Utp25	G	T	1: 192,797,309 (GRCm39)	N514K	probably damaging	Het
Utrn	A	G	10: 12,539,236 (GRCm39)	V1927A	probably benign	Het
Zfp945	T	C	17: 23,070,931 (GRCm39)		probably benign	Het

Other mutations in Aprt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0749:Aprt	UTSW	8	123,302,149 (GRCm39)	missense	probably damaging	1.00
R3787:Aprt	UTSW	8	123,302,268 (GRCm39)	missense	probably benign	0.02
R4610:Aprt	UTSW	8	123,302,154 (GRCm39)	splice site	probably null
R5353:Aprt	UTSW	8	123,302,147 (GRCm39)	start codon destroyed	probably null
R6526:Aprt	UTSW	8	123,303,555 (GRCm39)	missense	probably damaging	1.00
R7763:Aprt	UTSW	8	123,301,674 (GRCm39)	missense	probably benign	0.38
R9204:Aprt	UTSW	8	123,303,355 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06