Mutagenetix > Incidental Mutation

Incidental Mutation 'R9204:Aprt'

698386

Institutional Source

Beutler Lab

Gene Symbol

Aprt

Ensembl Gene

ENSMUSG00000006589

Gene Name

adenine phosphoribosyl transferase

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.536) question?

Stock #

R9204 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123301376-123303646 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123303355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 29 (I29T)

Ref Sequence

ENSEMBL: ENSMUSP00000006764 (fasta)

Gene Model

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

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: I29T

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

SMART Domains

Protein: ENSMUSP00000006764
Gene: ENSMUSG00000006589
AA Change: I29T

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

probably benign
Transcript: ENSMUST00000211823

Predicted Effect

probably benign
Transcript: ENSMUST00000212093

Predicted Effect

probably benign
Transcript: ENSMUST00000212319

Predicted Effect

probably damaging
Transcript: ENSMUST00000213029
AA Change: I29T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000213062

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (52/52)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	C	8: 60,996,566 (GRCm39)	V389A	possibly damaging	Het
Adgrl1	T	C	8: 84,660,519 (GRCm39)	F792S	probably benign	Het
Angptl2	A	T	2: 33,118,342 (GRCm39)	I39F	probably benign	Het
Arhgap21	A	T	2: 20,885,816 (GRCm39)	S464T	probably damaging	Het
Atic	T	C	1: 71,603,636 (GRCm39)	Y151H	probably damaging	Het
BB014433	T	C	8: 15,092,623 (GRCm39)	T77A	unknown	Het
Boc	C	A	16: 44,308,077 (GRCm39)	C926F		Het
Brd10	A	G	19: 29,696,938 (GRCm39)	S852P	possibly damaging	Het
Cabin1	C	T	10: 75,530,550 (GRCm39)	R1544Q	probably benign	Het
Ccdc33	A	G	9: 57,938,388 (GRCm39)	V861A	probably benign	Het
Ccdc88c	T	C	12: 100,904,322 (GRCm39)	T230A	unknown	Het
Cdc42bpa	T	A	1: 179,939,460 (GRCm39)		probably null	Het
Chrnb2	T	C	3: 89,668,128 (GRCm39)	M396V	probably benign	Het
Chst2	A	G	9: 95,287,155 (GRCm39)	V397A	probably damaging	Het
Cit	T	A	5: 116,126,498 (GRCm39)	N1643K	probably damaging	Het
Ckb	T	A	12: 111,637,869 (GRCm39)	D113V	probably benign	Het
Cyp2c68	A	T	19: 39,727,571 (GRCm39)	M136K	probably damaging	Het
Epas1	G	T	17: 87,116,873 (GRCm39)	R181L	probably damaging	Het
Flnc	A	C	6: 29,452,353 (GRCm39)	I1726L	possibly damaging	Het
Fras1	G	A	5: 96,883,022 (GRCm39)	R2518H	probably damaging	Het
Gid4	T	C	11: 60,308,654 (GRCm39)	V58A	probably benign	Het
Hmcn1	T	A	1: 150,610,262 (GRCm39)	N1469I	probably benign	Het
Hmcn2	A	G	2: 31,278,377 (GRCm39)	E1693G	probably damaging	Het
Irx4	C	G	13: 73,416,649 (GRCm39)	C348W	probably damaging	Het
Lrig2	A	G	3: 104,387,438 (GRCm39)	S410P	possibly damaging	Het
Lsm11	A	G	11: 45,824,789 (GRCm39)	V246A	probably benign	Het
Ltbp1	G	T	17: 75,670,425 (GRCm39)	V1489F	probably damaging	Het
Mc2r	T	C	18: 68,540,667 (GRCm39)	T209A	probably benign	Het
Mms22l	T	C	4: 24,581,153 (GRCm39)	L821P	probably damaging	Het
Mtus2	A	T	5: 148,238,293 (GRCm39)	E1206V	probably damaging	Het
Muc5b	T	A	7: 141,410,129 (GRCm39)	H1234Q	unknown	Het
Naip5	A	T	13: 100,359,008 (GRCm39)	F743I	probably damaging	Het
Nphp3	G	A	9: 103,919,305 (GRCm39)	V1318I	probably benign	Het
Or4c10b	T	G	2: 89,711,482 (GRCm39)	L104W	probably damaging	Het
Or52a24	A	G	7: 103,382,056 (GRCm39)	K308E	possibly damaging	Het
Or5p60	A	T	7: 107,723,935 (GRCm39)	N178K	possibly damaging	Het
Or7g26	T	C	9: 19,229,995 (GRCm39)	L61P	probably damaging	Het
Or8b4	C	A	9: 37,830,670 (GRCm39)	T239K	probably damaging	Het
Or9k2b	G	C	10: 130,016,566 (GRCm39)	P61R	probably damaging	Het
Paqr5	G	A	9: 61,868,826 (GRCm39)	R246C	probably benign	Het
Pdgfb	T	C	15: 79,885,956 (GRCm39)	Q128R	probably damaging	Het
Prr3	T	A	17: 36,285,619 (GRCm39)	I88F	possibly damaging	Het
Ptprd	C	G	4: 75,872,315 (GRCm39)	A1134P	possibly damaging	Het
R3hcc1l	G	A	19: 42,552,301 (GRCm39)	D433N	probably benign	Het
Scnn1b	A	T	7: 121,498,522 (GRCm39)	T21S	probably benign	Het
Smcr8	A	G	11: 60,668,857 (GRCm39)	I2V	probably damaging	Het
Stk33	T	C	7: 108,940,686 (GRCm39)	D8G	probably benign	Het
Tbc1d22a	T	C	15: 86,098,803 (GRCm39)	F10L	probably benign	Het
Tmem126a	T	A	7: 90,102,026 (GRCm39)	I58F	possibly damaging	Het
Ttf2	T	C	3: 100,869,880 (GRCm39)	K398E	probably benign	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Usp53	G	T	3: 122,741,068 (GRCm39)	N727K	probably benign	Het
Vmn2r25	T	G	6: 123,830,092 (GRCm39)	I20L	probably benign	Het
Zfp747l1	T	A	7: 126,984,332 (GRCm39)	I257L	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- AACAAGCGTCCAAGGCAGTG -3'
(R):5'- CCTGAGTTGAAACTGGTGGC -3'

Sequencing Primer
(F):5'- TCCAAGGCAGTGAGGAACC -3'
(R):5'- GAAACTGGTGGCGCGGC -3'

Posted On

2022-02-07