Mutagenetix > Incidental Mutation

Incidental Mutation 'R7763:Aprt'

598036

Institutional Source

Beutler Lab

Gene Symbol

Aprt

Ensembl Gene

ENSMUSG00000006589

Gene Name

adenine phosphoribosyl transferase

Synonyms

MMRRC Submission

045819-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.536) question?

Stock #

R7763 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123301376-123303646 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123301674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 165 (R165G)

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 benign
Transcript: ENSMUST00000006764
AA Change: R165G

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000006764
Gene: ENSMUSG00000006589
AA Change: R165G

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 benign
Transcript: ENSMUST00000213029

Predicted Effect

probably benign
Transcript: ENSMUST00000213062

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,113,825 (GRCm39)	W899R	probably damaging	Het
Abca5	A	T	11: 110,163,323 (GRCm39)	W1631R	possibly damaging	Het
Actg2	T	A	6: 83,504,350 (GRCm39)	D25V	probably damaging	Het
Akap10	G	C	11: 61,806,331 (GRCm39)	D132E	probably damaging	Het
Angptl2	G	T	2: 33,132,394 (GRCm39)	E334*	probably null	Het
Bmp1	A	G	14: 70,729,524 (GRCm39)	F549S	probably damaging	Het
Capzb	C	T	4: 139,007,864 (GRCm39)	T215I	probably benign	Het
Car14	C	T	3: 95,811,684 (GRCm39)	M1I	probably null	Het
Ccdc148	T	A	2: 58,713,648 (GRCm39)	Q501L	probably benign	Het
Ccdc32	G	A	2: 118,857,828 (GRCm39)	T12I	probably damaging	Het
Ccnf	G	A	17: 24,443,986 (GRCm39)	S594L	probably damaging	Het
Cdadc1	C	T	14: 59,811,283 (GRCm39)	C409Y	probably damaging	Het
Cdh23	G	T	10: 60,148,356 (GRCm39)	S2670R	probably damaging	Het
Cdh8	T	A	8: 100,006,306 (GRCm39)	K94*	probably null	Het
Cdhr2	A	T	13: 54,865,505 (GRCm39)	Y193F	probably damaging	Het
Cdon	T	A	9: 35,365,711 (GRCm39)	Y153*	probably null	Het
Chd1	G	A	17: 15,953,303 (GRCm39)	G413R	probably damaging	Het
Cit	A	T	5: 116,125,060 (GRCm39)	T1582S	probably benign	Het
Clec4a3	T	C	6: 122,941,299 (GRCm39)	L98P	probably benign	Het
Cpa4	T	A	6: 30,583,644 (GRCm39)	D253E	probably damaging	Het
Cyp2c40	T	A	19: 39,795,612 (GRCm39)	N189I	possibly damaging	Het
Daam2	G	T	17: 49,797,050 (GRCm39)	A245E	probably benign	Het
Dennd5b	A	G	6: 148,970,156 (GRCm39)	F121S	probably damaging	Het
Dgkd	A	G	1: 87,854,671 (GRCm39)	T658A	probably benign	Het
Dmwd	T	A	7: 18,814,265 (GRCm39)	L305Q	probably damaging	Het
Dnah5	A	T	15: 28,314,001 (GRCm39)	Y1939F	probably damaging	Het
Dock5	T	C	14: 68,058,776 (GRCm39)	T512A	probably damaging	Het
Dop1b	T	A	16: 93,552,402 (GRCm39)	D398E	probably benign	Het
Eef1akmt4	A	G	16: 20,437,279 (GRCm39)	H207R	probably damaging	Het
Egfr	T	C	11: 16,841,266 (GRCm39)	V719A	probably damaging	Het
Ep300	A	T	15: 81,470,784 (GRCm39)		probably benign	Het
Epha4	A	G	1: 77,366,668 (GRCm39)		probably null	Het
Erc2	T	G	14: 27,598,161 (GRCm39)		probably null	Het
Ergic1	A	T	17: 26,857,801 (GRCm39)	Y209F	possibly damaging	Het
Fbxw28	A	G	9: 109,155,701 (GRCm39)	I357T	probably damaging	Het
Flnb	A	T	14: 7,926,478 (GRCm38)	T1841S	probably benign	Het
Foxc1	G	A	13: 31,992,011 (GRCm39)	S274N	probably benign	Het
Fto	C	T	8: 92,136,071 (GRCm39)	T115M	probably damaging	Het
Gm10228	C	G	16: 88,838,187 (GRCm39)	C39S	unknown	Het
Gm7334	T	C	17: 51,005,743 (GRCm39)	F10L	possibly damaging	Het
Hfm1	A	G	5: 107,029,727 (GRCm39)	Y785H	probably damaging	Het
Hivep1	T	A	13: 42,312,937 (GRCm39)	S1726T	probably benign	Het
Htt	G	T	5: 35,009,534 (GRCm39)	C1505F	probably damaging	Het
Hydin	T	C	8: 111,232,475 (GRCm39)	S1665P	possibly damaging	Het
Ifi209	T	A	1: 173,470,445 (GRCm39)	N344K	probably damaging	Het
Ifnar2	T	C	16: 91,196,181 (GRCm39)	M262T	probably benign	Het
Ighv7-3	T	A	12: 114,116,827 (GRCm39)	S112C	probably damaging	Het
Igkv4-86	A	G	6: 68,887,563 (GRCm39)	S59P	probably benign	Het
Iglv1	A	G	16: 18,904,239 (GRCm39)		probably benign	Het
Ipo7	T	A	7: 109,652,006 (GRCm39)	D928E	possibly damaging	Het
Itgae	G	T	11: 73,014,095 (GRCm39)		probably null	Het
Kbtbd12	T	A	6: 88,595,179 (GRCm39)	Q217L	probably benign	Het
Kcnma1	T	A	14: 23,350,074 (GRCm39)	Y1155F	possibly damaging	Het
Kif14	A	G	1: 136,444,121 (GRCm39)	E1371G	probably benign	Het
Lilrb4a	A	T	10: 51,367,142 (GRCm39)	Y10F	probably benign	Het
Lrp2	A	T	2: 69,333,732 (GRCm39)	V1503E	probably damaging	Het
Mfsd6	A	T	1: 52,747,799 (GRCm39)	D355E	probably benign	Het
Mri1	T	C	8: 84,977,657 (GRCm39)	H226R		Het
Mroh4	C	T	15: 74,496,554 (GRCm39)	E278K	probably damaging	Het
Muc4	T	A	16: 32,574,739 (GRCm39)	L1063H	probably benign	Het
Mzf1	A	T	7: 12,778,018 (GRCm39)	I541N	probably damaging	Het
Nasp	T	A	4: 116,469,230 (GRCm39)	E116D	probably benign	Het
Nlrp10	T	A	7: 108,525,033 (GRCm39)	E149V	probably damaging	Het
Notch4	G	A	17: 34,801,392 (GRCm39)	C1080Y	probably damaging	Het
Nova1	T	G	12: 46,767,481 (GRCm39)	I147L	unknown	Het
Ogdh	A	G	11: 6,288,558 (GRCm39)	M223V	probably benign	Het
Or2a56	T	C	6: 42,932,723 (GRCm39)	I97T	probably benign	Het
Or2y1e	G	T	11: 49,218,498 (GRCm39)	A87S	probably benign	Het
Or4n4	A	T	14: 50,518,945 (GRCm39)	I255N	probably damaging	Het
Or6c66b	G	T	10: 129,377,324 (GRCm39)	R306L	probably benign	Het
P3h3	T	C	6: 124,831,395 (GRCm39)	Q330R	probably benign	Het
Pcdhb10	A	G	18: 37,544,935 (GRCm39)	T4A	not run	Het
Pkd2l2	A	T	18: 34,566,340 (GRCm39)		probably null	Het
Plekhb1	C	T	7: 100,294,870 (GRCm39)	V168I	probably benign	Het
Plxna4	C	T	6: 32,200,915 (GRCm39)	R753H	probably damaging	Het
Pramel17	T	C	4: 101,694,338 (GRCm39)	I182V	possibly damaging	Het
Prex1	G	C	2: 166,555,629 (GRCm39)	P4A	unknown	Het
Ptgdr	A	G	14: 45,096,535 (GRCm39)	V59A	probably damaging	Het
Ralgapa1	T	A	12: 55,804,740 (GRCm39)	I519F	probably benign	Het
Rbpms	A	G	8: 34,279,481 (GRCm39)	I170T	probably benign	Het
Sec31b	T	A	19: 44,512,274 (GRCm39)		probably null	Het
Skint11	A	T	4: 114,084,905 (GRCm39)	Y138F	probably benign	Het
Slain2	A	G	5: 73,105,953 (GRCm39)	Y196C	probably damaging	Het
Slco1b2	T	A	6: 141,621,950 (GRCm39)	C503*	probably null	Het
Slfn3	A	T	11: 83,105,614 (GRCm39)	Y537F	possibly damaging	Het
Slu7	T	C	11: 43,335,592 (GRCm39)	Y443H	probably damaging	Het
Sorl1	T	A	9: 41,955,205 (GRCm39)	E683D	probably damaging	Het
Sos1	T	A	17: 80,721,142 (GRCm39)	I893L	probably benign	Het
St8sia2	T	A	7: 73,593,069 (GRCm39)	Y329F	probably damaging	Het
Stra6l	C	A	4: 45,869,570 (GRCm39)	S212*	probably null	Het
Syne3	C	T	12: 104,963,754 (GRCm39)		probably benign	Het
Tenm4	T	A	7: 96,544,899 (GRCm39)	I2342N	probably benign	Het
Tescl	T	A	7: 24,032,688 (GRCm39)	E212D	probably benign	Het
Trip11	A	G	12: 101,811,114 (GRCm39)	S1879P	probably benign	Het
Ube2c	A	T	2: 164,613,211 (GRCm39)		probably null	Het
Umodl1	T	A	17: 31,205,430 (GRCm39)	I675N	probably benign	Het
Vipr2	T	C	12: 116,086,338 (GRCm39)	F121S	probably damaging	Het
Vmn1r206	A	T	13: 22,804,839 (GRCm39)	S123T	possibly damaging	Het
Vmn1r58	A	G	7: 5,413,912 (GRCm39)	V106A	probably damaging	Het
Vmn2r112	A	G	17: 22,822,099 (GRCm39)	Y259C	probably damaging	Het
Vmn2r66	T	C	7: 84,654,909 (GRCm39)	K467E	probably benign	Het
Vmn2r98	T	C	17: 19,300,797 (GRCm39)	F600L	probably benign	Het
Vps13a	T	A	19: 16,723,364 (GRCm39)	N278I	possibly damaging	Het
Vwa5a	A	C	9: 38,652,458 (GRCm39)	D747A	possibly damaging	Het
Xdh	G	A	17: 74,241,829 (GRCm39)	P157S	possibly damaging	Het
Xrn1	G	A	9: 95,880,401 (GRCm39)		probably null	Het
Zfp362	T	A	4: 128,680,824 (GRCm39)	H180L	probably benign	Het
Zfp560	A	T	9: 20,258,619 (GRCm39)	W748R	possibly damaging	Het
Zfp808	A	T	13: 62,320,478 (GRCm39)	Q569L	probably benign	Het
Zfp93	T	A	7: 23,974,643 (GRCm39)	D209E	possibly damaging	Het
Zftraf1	A	T	15: 76,542,747 (GRCm39)	Y138N	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
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
R9204:Aprt	UTSW	8	123,303,355 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGTGGCACGTGTACAAAGTAC -3'
(R):5'- AGACTTCAAAGGGCCAGACC -3'

Sequencing Primer
(F):5'- TACAAGGATCCAGGGGTCCAC -3'
(R):5'- CCTGTCCTGGGTGCTGACTAAG -3'

Posted On

2019-11-26