Mutagenetix > Incidental Mutation

Incidental Mutation 'RF004:Prps1l1'

602711

Institutional Source

Beutler Lab

Gene Symbol

Prps1l1

Ensembl Gene

ENSMUSG00000092305

Gene Name

phosphoribosyl pyrophosphate synthetase 1-like 1

Synonyms

1700011K15Rik

Accession Numbers

Essential gene?

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

Stock #

RF004 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35034760-35036435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35035398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 171 (D171G)

Ref Sequence

ENSEMBL: ENSMUSP00000133931 (fasta)

Gene Model

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

AlphaFold

Q8C5R8

Predicted Effect

probably damaging
Transcript: ENSMUST00000134550
AA Change: D171G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133931
Gene: ENSMUSG00000092305
AA Change: D171G

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: 99.6%
10x: 99.1%
20x: 97.6%

Validation Efficiency

100% (34/34)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	A	19: 21,575,645 (GRCm39)	H126L	probably benign	Het
4930407I10Rik	A	T	15: 81,943,550 (GRCm39)	Q54L	possibly damaging	Het
4930433I11Rik	AACC	A	7: 40,642,479 (GRCm39)		probably benign	Het
Adora2a	A	T	10: 75,168,988 (GRCm39)	T151S	probably benign	Het
Ankhd1	GCGGCG	GCGGCGTCGGCG	18: 36,693,963 (GRCm39)		probably benign	Het
Ankrd36	A	G	11: 5,612,411 (GRCm39)	K1248E	possibly damaging	Het
Anks1b	G	A	10: 89,869,087 (GRCm39)	G49D	probably damaging	Het
Arl11	T	C	14: 61,548,304 (GRCm39)	V38A	probably damaging	Het
Atp2c2	A	T	8: 120,479,561 (GRCm39)	N726Y	probably damaging	Het
Bcat1	T	C	6: 144,953,349 (GRCm39)	K413R	probably benign	Het
Cd244a	C	G	1: 171,405,490 (GRCm39)	Q292E	probably benign	Het
Chp1	T	A	2: 119,411,195 (GRCm39)	D123E	probably damaging	Het
Cpeb4	ACTCT	ACTCTCT	11: 31,877,634 (GRCm39)		probably benign	Het
Ddx6	A	G	9: 44,535,789 (GRCm39)	T173A	possibly damaging	Het
Dlg2	T	A	7: 90,501,885 (GRCm39)	C66S	probably benign	Het
Dnah2	T	A	11: 69,328,013 (GRCm39)	Q3370L	probably benign	Het
Dnmt1	GCACAGTTCCTACCTCGTT	GCACAGTTCCTACCTCGTTTTGGGGGCGGAACACAGTTCCTACCTCGTT	9: 20,821,423 (GRCm39)		probably null	Het
Dop1a	T	C	9: 86,436,244 (GRCm39)	V2420A	probably benign	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,489,118 (GRCm39)		probably benign	Het
Igkv6-25	TTGACGGA	T	6: 70,192,647 (GRCm39)		probably null	Het
Iqgap1	G	A	7: 80,370,623 (GRCm39)	A1582V	probably benign	Het
Lmnb1	T	C	18: 56,864,046 (GRCm39)	I217T	possibly damaging	Het
Mamld1	CAG	CAGTAG	X: 70,162,437 (GRCm39)		probably null	Het
Map2k2	A	T	10: 80,951,002 (GRCm39)	H149L	probably benign	Het
Med12l	CAG	CAGAAG	3: 59,183,390 (GRCm39)		probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nxph2	G	A	2: 23,290,080 (GRCm39)	R144Q	probably damaging	Het
Or2t48	CA	C	11: 58,419,983 (GRCm39)		probably null	Het
Or51f1e	T	TTAG	7: 102,747,516 (GRCm39)		probably null	Het
Or51f1e	GTTAT	GTTATTAT	7: 102,747,512 (GRCm39)			Het
Or51f1e	AT	ATTCT	7: 102,747,515 (GRCm39)		probably benign	Het
Or51q1	TCC	TCCC	7: 103,629,110 (GRCm39)		probably null	Het
Or52n20	A	G	7: 104,320,248 (GRCm39)	E113G	probably damaging	Het
Or8d2	T	C	9: 38,760,114 (GRCm39)	F235L	probably benign	Het
Padi4	A	T	4: 140,487,269 (GRCm39)	V211E	probably damaging	Het
Prdm10	A	C	9: 31,270,422 (GRCm39)	D902A	probably damaging	Het
Rasal3	A	T	17: 32,610,081 (GRCm39)	N1035K	probably damaging	Het
Rassf6	GGTCCTGTAGAGCAATGGGGATTC	GGTCCTGTAGAGCAATGGGGATTCTGCATCACTCATTGTCCTGTAGAGCAATGGGGATTC	5: 90,756,778 (GRCm39)		probably benign	Het
Rbm26	A	G	14: 105,388,931 (GRCm39)	V320A	probably damaging	Het
S1pr1	A	T	3: 115,506,536 (GRCm39)	Y19*	probably null	Het
Slc22a16	A	C	10: 40,479,642 (GRCm39)	L571F	possibly damaging	Het
Smarca2	CAGC	CAGCCCAAGC	19: 26,608,420 (GRCm39)		probably benign	Het
Ssx2ip	A	T	3: 146,132,195 (GRCm39)	K219*	probably null	Het
Trav15-2-dv6-2	AAG	AAGCAG	14: 53,887,212 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	GGGAG	GGGAGGAG	14: 53,887,207 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	GAA	GAATAA	14: 53,887,211 (GRCm39)		probably null	Het
Tsen15	A	G	1: 152,259,470 (GRCm39)	V63A	probably damaging	Het
Ttc21a	A	G	9: 119,795,838 (GRCm39)	Y1224C	probably damaging	Het
Usp54	T	A	14: 20,611,368 (GRCm39)	E1149D	possibly damaging	Het
Vmn2r37	A	T	7: 9,220,686 (GRCm39)	S392R	probably damaging	Het
Wdr97	GAGGAGGA	G	15: 76,247,373 (GRCm39)		probably null	Het
Zfp663	G	T	2: 165,200,363 (GRCm39)	H72Q	probably benign	Het
Zfp683	TGTGG	TGTGGTGG	4: 133,786,185 (GRCm39)		probably benign	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
R8118:Prps1l1	UTSW	12	35,035,340 (GRCm39)	missense	probably damaging	0.96
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
Z1177:Prps1l1	UTSW	12	35,035,263 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGTCTATAGCAGGTGCAG -3'
(R):5'- GAGTCAAGATGGCATAAACTCTGG -3'

Sequencing Primer
(F):5'- CTGTCTATAGCAGGTGCAGATCAC -3'
(R):5'- GATGGCATAAACTCTGGTAGCTCC -3'

Posted On

2019-12-04