Mutagenetix > Incidental Mutation

Incidental Mutation 'R0749:Aprt'

70252

Institutional Source

Beutler Lab

Gene Symbol

Aprt

Ensembl Gene

ENSMUSG00000006589

Gene Name

adenine phosphoribosyl transferase

Synonyms

MMRRC Submission

038929-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.536) question?

Stock #

R0749 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123301376-123303646 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123302149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 105 (Y105N)

Ref Sequence

ENSEMBL: ENSMUSP00000006764 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006760] [ENSMUST00000006764] [ENSMUST00000015171] [ENSMUST00000127664] [ENSMUST00000211823] [ENSMUST00000212093] [ENSMUST00000213029] [ENSMUST00000213062] [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 damaging
Transcript: ENSMUST00000006764
AA Change: Y105N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000006764
Gene: ENSMUSG00000006589
AA Change: Y105N

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: ENSMUST00000212821

Predicted Effect

probably benign
Transcript: ENSMUST00000212093

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212053

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212834

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

probably benign
Transcript: ENSMUST00000212319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213030

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.5%

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn2l	A	T	7: 126,100,009 (GRCm39)	S109T	possibly damaging	Het
Bbs9	T	C	9: 22,486,497 (GRCm39)		probably null	Het
Bmp4	T	C	14: 46,622,070 (GRCm39)	E158G	probably damaging	Het
Btn2a2	T	C	13: 23,662,568 (GRCm39)	*418W	probably null	Het
Cpt1c	A	G	7: 44,612,250 (GRCm39)	Y494H	probably damaging	Het
Cyp3a16	T	A	5: 145,392,987 (GRCm39)		probably null	Het
Dpy19l1	T	A	9: 24,373,880 (GRCm39)	H270L	probably benign	Het
Fdxr	A	G	11: 115,167,671 (GRCm39)	S15P	probably benign	Het
Gm8688	T	G	8: 100,391,152 (GRCm39)		noncoding transcript	Het
Golph3l	G	A	3: 95,515,260 (GRCm39)	R134Q	probably damaging	Het
Hmgxb4	A	G	8: 75,727,565 (GRCm39)	T183A	probably damaging	Het
Krt1c	T	G	15: 101,726,098 (GRCm39)	S147R	unknown	Het
Lipn	T	C	19: 34,054,379 (GRCm39)	S206P	probably damaging	Het
Mcpt2	A	G	14: 56,281,136 (GRCm39)		probably null	Het
Metap2	T	C	10: 93,715,429 (GRCm39)	E133G	probably benign	Het
Nuak1	T	C	10: 84,210,648 (GRCm39)	Y480C	probably damaging	Het
Oma1	C	T	4: 103,182,496 (GRCm39)	Q300*	probably null	Het
Pcnt	T	C	10: 76,217,198 (GRCm39)	E2161G	probably damaging	Het
Pkdrej	G	T	15: 85,702,275 (GRCm39)	D1220E	probably benign	Het
Ptdss1	T	A	13: 67,135,914 (GRCm39)	C390*	probably null	Het
Sars1	A	C	3: 108,335,582 (GRCm39)	F389V	possibly damaging	Het
Sec31b	C	T	19: 44,512,945 (GRCm39)	V515M	probably damaging	Het
Syt3	A	G	7: 44,048,571 (GRCm39)	E587G	probably benign	Het
Tjp2	T	C	19: 24,099,636 (GRCm39)	E417G	possibly damaging	Het
Tmem63b	A	G	17: 45,977,041 (GRCm39)	F442S	possibly damaging	Het
Togaram1	A	G	12: 65,029,472 (GRCm39)	D965G	possibly damaging	Het
Zmynd10	T	C	9: 107,425,882 (GRCm39)	V72A	probably damaging	Het

Other mutations in Aprt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Aprt	APN	8	123,302,232 (GRCm39)	missense	probably benign	0.12
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

Predicted Primers

PCR Primer
(F):5'- AGGCATCTTTCTGGATTTCCAGCTC -3'
(R):5'- AGCCGTAGTCAGCAAGACCTAGTG -3'

Sequencing Primer
(F):5'- GGATTTCCAGCTCAGCCTG -3'
(R):5'- AGACCTAGTGTTCCTAGCAAGTG -3'

Posted On

2013-09-30