Mutagenetix > Incidental Mutation

Incidental Mutation 'R8118:Prps1l1'

631355

Institutional Source

Beutler Lab

Gene Symbol

Prps1l1

Ensembl Gene

ENSMUSG00000092305

Gene Name

phosphoribosyl pyrophosphate synthetase 1-like 1

Synonyms

1700011K15Rik

MMRRC Submission

067547-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R8118 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35034760-35036435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35035340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 152 (L152M)

Ref Sequence

ENSEMBL: ENSMUSP00000133931 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000134550]

AlphaFold

Q8C5R8

Predicted Effect

probably damaging
Transcript: ENSMUST00000134550
AA Change: L152M

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133931
Gene: ENSMUSG00000092305
AA Change: L152M

Domain	Start	End	E-Value	Type
Pfam:Pribosyltran_N	4	120	7.1e-49	PFAM
Pfam:Pribosyltran	139	261	1.5e-15	PFAM
Pfam:Pribosyl_synth	200	314	2.8e-39	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.2%
20x: 91.1%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine, purine or pyridine bases to the corresponding ribonucleoside monophosphates. In vitro transcription/translation and site-directed mutagenesis studies indicate that translation of this mRNA initiates exclusively at a non-AUG (ACG) codon. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	T	C	16: 85,592,821 (GRCm39)	D792G	probably damaging	Het
Adcy7	A	G	8: 89,042,384 (GRCm39)	H417R	probably damaging	Het
Agr2	A	G	12: 36,046,106 (GRCm39)	D79G	probably benign	Het
Ankle1	T	C	8: 71,860,279 (GRCm39)	S286P	probably benign	Het
Arhgef11	T	C	3: 87,643,164 (GRCm39)	S1488P	probably damaging	Het
Atp6v0a2	T	C	5: 124,789,837 (GRCm39)	M421T	probably damaging	Het
Cdk17	C	A	10: 93,052,252 (GRCm39)	Q111K	possibly damaging	Het
Cimap2	T	A	4: 106,470,595 (GRCm39)	R192S	possibly damaging	Het
Cobl	A	G	11: 12,204,834 (GRCm39)	S623P	probably benign	Het
Dgka	C	T	10: 128,558,318 (GRCm39)		probably null	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Dsg2	A	G	18: 20,715,858 (GRCm39)	I267V	probably benign	Het
Exoc4	T	C	6: 33,948,853 (GRCm39)	Y899H	probably damaging	Het
Fat3	A	G	9: 15,871,400 (GRCm39)	F3664L	probably benign	Het
Fbxo47	C	T	11: 97,770,341 (GRCm39)	C17Y	probably benign	Het
Gm2888	G	T	14: 3,037,628 (GRCm38)	V207F	probably benign	Het
Gpr61	A	G	3: 108,057,888 (GRCm39)	S258P	probably damaging	Het
H2-T9	C	T	17: 36,438,582 (GRCm39)	V270M	probably damaging	Het
Hectd4	C	T	5: 121,424,439 (GRCm39)	H700Y	probably benign	Het
Hs3st2	C	T	7: 120,996,651 (GRCm39)	T154I	probably benign	Het
Inf2	A	T	12: 112,567,871 (GRCm39)	H167L	probably damaging	Het
Ints3	C	T	3: 90,307,606 (GRCm39)		probably null	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Itgal	C	A	7: 126,910,417 (GRCm39)	Q509K	probably benign	Het
Klhl20	A	T	1: 160,925,971 (GRCm39)		probably null	Het
Krtap4-13	C	T	11: 99,700,224 (GRCm39)	C145Y	unknown	Het
Large1	A	G	8: 73,858,572 (GRCm39)	S99P	probably benign	Het
Lrba	A	T	3: 86,261,533 (GRCm39)	I1496L	probably benign	Het
Map2	A	T	1: 66,464,550 (GRCm39)	I1647F	probably damaging	Het
Map3k10	A	G	7: 27,372,842 (GRCm39)	V203A	possibly damaging	Het
Mcmdc2	T	A	1: 9,986,599 (GRCm39)	N166K	possibly damaging	Het
Mlxipl	T	G	5: 135,166,102 (GRCm39)	L828R	possibly damaging	Het
Mnat1	A	G	12: 73,265,864 (GRCm39)	I253V	probably benign	Het
Mtfp1	A	G	11: 4,043,910 (GRCm39)	S107P	probably damaging	Het
Nebl	T	A	2: 17,384,631 (GRCm39)	Y65F	possibly damaging	Het
Nelfb	A	T	2: 25,095,171 (GRCm39)	D339E	possibly damaging	Het
Nlrc3	T	A	16: 3,783,495 (GRCm39)	I20L	probably benign	Het
Nup205	T	A	6: 35,207,451 (GRCm39)	M1501K	probably benign	Het
Or14a258	A	T	7: 86,034,976 (GRCm39)	C297*	probably null	Het
Or1ad8	A	G	11: 50,898,327 (GRCm39)	H176R	probably damaging	Het
Or2t6	A	G	14: 14,175,863 (GRCm38)	I73T	probably damaging	Het
Or4k15b	T	C	14: 50,272,608 (GRCm39)	D84G	probably benign	Het
Or5b123	T	A	19: 13,597,109 (GRCm39)	N151K	probably damaging	Het
Or5g29	T	A	2: 85,421,332 (GRCm39)	Y149*	probably null	Het
Palm3	A	G	8: 84,756,438 (GRCm39)	E650G	probably damaging	Het
Rgs7bp	C	A	13: 105,189,629 (GRCm39)	V57F	probably damaging	Het
Scaf8	T	A	17: 3,214,458 (GRCm39)	V171D	unknown	Het
Sf3a2	T	C	10: 80,639,474 (GRCm39)	Y155H	probably damaging	Het
Sfrp1	T	G	8: 23,902,000 (GRCm39)	L67R	probably damaging	Het
Shank2	A	T	7: 143,963,612 (GRCm39)	I407L	probably benign	Het
Skint6	T	C	4: 112,722,872 (GRCm39)	T902A	possibly damaging	Het
Skint6	A	C	4: 113,013,691 (GRCm39)	S353R	possibly damaging	Het
Srrm2	T	A	17: 24,027,057 (GRCm39)	I87N	unknown	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Svs3b	A	G	2: 164,097,926 (GRCm39)	S132P	probably damaging	Het
Tbc1d17	G	T	7: 44,492,426 (GRCm39)	F412L	probably benign	Het
Tex29	A	T	8: 11,904,263 (GRCm39)	E116D	unknown	Het
Tmem204	T	C	17: 25,299,312 (GRCm39)	D69G	possibly damaging	Het
Ttll10	G	A	4: 156,129,219 (GRCm39)	R308C	probably benign	Het
Ttn	T	A	2: 76,577,508 (GRCm39)	I24462F	probably damaging	Het
Tubg2	A	G	11: 101,052,304 (GRCm39)	E411G	probably damaging	Het
Ugt2b38	T	C	5: 87,571,630 (GRCm39)	N134S	probably damaging	Het
Usp31	T	C	7: 121,276,485 (GRCm39)	T351A	probably damaging	Het
Usp33	T	C	3: 152,065,996 (GRCm39)	L92S	probably damaging	Het
Vmn2r20	A	T	6: 123,373,429 (GRCm39)	I471N	probably damaging	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Wnk2	A	G	13: 49,244,459 (GRCm39)	V459A	probably damaging	Het

Other mutations in Prps1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Prps1l1	APN	12	35,035,377 (GRCm39)	missense	probably benign	0.09
IGL01375:Prps1l1	APN	12	35,035,631 (GRCm39)	missense	possibly damaging	0.78
R0379:Prps1l1	UTSW	12	35,035,077 (GRCm39)	missense	probably benign	0.33
R2109:Prps1l1	UTSW	12	35,035,521 (GRCm39)	missense	probably benign
R3909:Prps1l1	UTSW	12	35,035,797 (GRCm39)	missense	possibly damaging	0.84
R6129:Prps1l1	UTSW	12	35,035,329 (GRCm39)	missense	probably damaging	0.99
R7284:Prps1l1	UTSW	12	35,035,317 (GRCm39)	missense	possibly damaging	0.65
R7295:Prps1l1	UTSW	12	35,035,679 (GRCm39)	missense	probably benign
R7374:Prps1l1	UTSW	12	35,035,424 (GRCm39)	missense	possibly damaging	0.79
R8240:Prps1l1	UTSW	12	35,035,140 (GRCm39)	missense	probably damaging	0.97
R8968:Prps1l1	UTSW	12	35,035,205 (GRCm39)	missense	probably damaging	1.00
R9026:Prps1l1	UTSW	12	35,035,546 (GRCm39)	missense	possibly damaging	0.58
R9416:Prps1l1	UTSW	12	35,035,089 (GRCm39)	missense
R9463:Prps1l1	UTSW	12	35,035,559 (GRCm39)	missense	probably damaging	0.98
RF004:Prps1l1	UTSW	12	35,035,398 (GRCm39)	missense	probably damaging	0.99
Z1177:Prps1l1	UTSW	12	35,035,263 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGATCGCTTCAGCCAGCAG -3'
(R):5'- GAATAGCCACCCGATCCTTC -3'

Sequencing Primer
(F):5'- ACTGCAGTCATCCCGTGC -3'
(R):5'- TAGCCACCCGATCCTTCACATC -3'

Posted On

2020-06-30