Mutagenetix > Incidental Mutation

Incidental Mutation 'R7374:Prps1l1'

572285

Institutional Source

Beutler Lab

Gene Symbol

Prps1l1

Ensembl Gene

ENSMUSG00000092305

Gene Name

phosphoribosyl pyrophosphate synthetase 1-like 1

Synonyms

1700011K15Rik

MMRRC Submission

045457-MU

Accession Numbers

Essential gene?

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

Stock #

R7374 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35034760-35036435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35035424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 180 (S180P)

Ref Sequence

ENSEMBL: ENSMUSP00000133931 (fasta)

Gene Model

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

AlphaFold

Q8C5R8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134550
AA Change: S180P

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133931
Gene: ENSMUSG00000092305
AA Change: S180P

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,242,136 (GRCm39)	T1333I	possibly damaging	Het
Abcd4	A	T	12: 84,653,017 (GRCm39)	L395*	probably null	Het
Cdh23	G	A	10: 60,153,679 (GRCm39)	R2304W	probably damaging	Het
Ckap2l	T	C	2: 129,126,883 (GRCm39)	T432A	probably damaging	Het
Cplane1	T	A	15: 8,276,731 (GRCm39)	W2792R	unknown	Het
Cyp2c68	T	C	19: 39,727,648 (GRCm39)		probably null	Het
Ddx51	C	A	5: 110,804,998 (GRCm39)	T580K	probably damaging	Het
Fbxo44	T	A	4: 148,241,094 (GRCm39)	D112V	probably benign	Het
Ffar2	T	C	7: 30,519,465 (GRCm39)	N25S	probably damaging	Het
Gas6	A	T	8: 13,524,802 (GRCm39)	V330D	probably damaging	Het
Gfpt1	A	G	6: 87,027,959 (GRCm39)	T22A	probably benign	Het
Gm3371	A	G	14: 44,641,240 (GRCm39)	V108A		Het
Gm8257	T	C	14: 44,887,740 (GRCm39)	E215G	probably benign	Het
Gria1	T	A	11: 57,080,634 (GRCm39)	S206T	probably benign	Het
Gria2	T	C	3: 80,648,383 (GRCm39)	T118A	probably benign	Het
Hfe	T	G	13: 23,890,030 (GRCm39)	T248P	probably damaging	Het
Kdm5d	T	C	Y: 941,491 (GRCm39)	W1231R	probably benign	Het
Ltbp2	C	T	12: 84,876,949 (GRCm39)	D419N	probably damaging	Het
Mei1	G	A	15: 81,980,109 (GRCm39)	A232T		Het
Mgam	G	A	6: 40,734,373 (GRCm39)	E1473K	possibly damaging	Het
Mtbp	A	C	15: 55,426,355 (GRCm39)	E99A	possibly damaging	Het
Muc5b	A	T	7: 141,416,863 (GRCm39)	T3270S	probably benign	Het
Myl2	A	G	5: 122,239,726 (GRCm39)	Y28C		Het
Nrxn1	A	G	17: 90,896,097 (GRCm39)		probably null	Het
Ntn4	A	G	10: 93,518,434 (GRCm39)	H247R	probably benign	Het
Numa1	T	C	7: 101,658,335 (GRCm39)	V1568A	probably benign	Het
Nyap1	C	T	5: 137,733,791 (GRCm39)	G414D	probably damaging	Het
Or5p68	A	G	7: 107,946,095 (GRCm39)	F31S	probably damaging	Het
Or8k25	C	A	2: 86,244,196 (GRCm39)	A67S	probably benign	Het
Pdgfrb	G	A	18: 61,204,780 (GRCm39)	V547I	possibly damaging	Het
Pom121l12	A	T	11: 14,549,962 (GRCm39)	M223L	probably benign	Het
Ptprf	A	G	4: 118,114,689 (GRCm39)	S189P	probably damaging	Het
Radil	G	A	5: 142,471,235 (GRCm39)	R1014W	probably damaging	Het
Rfx5	C	T	3: 94,866,053 (GRCm39)	P451S	unknown	Het
Rhbdl2	G	C	4: 123,711,658 (GRCm39)	V132L	probably benign	Het
Slc15a2	G	T	16: 36,572,207 (GRCm39)	T719K	probably benign	Het
Slc9a9	A	G	9: 94,937,542 (GRCm39)	T465A	possibly damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Sv2a	A	T	3: 96,095,525 (GRCm39)	Y306F	probably benign	Het
Sv2c	A	T	13: 96,125,644 (GRCm39)	H364Q	probably damaging	Het
Tmem181a	T	A	17: 6,354,533 (GRCm39)	L401Q	possibly damaging	Het
Trav9d-4	A	G	14: 53,221,300 (GRCm39)	Y98C	probably damaging	Het
Trim33	T	A	3: 103,217,639 (GRCm39)	C195S	probably damaging	Het
Uroc1	T	C	6: 90,315,815 (GRCm39)	Y191H	probably damaging	Het
Usp9y	T	C	Y: 1,381,305 (GRCm39)	I839V	probably benign	Het
Vmn1r52	A	T	6: 90,156,118 (GRCm39)	I141F	probably benign	Het
Vmn1r59	T	C	7: 5,457,160 (GRCm39)	H200R	probably damaging	Het
Vmn2r68	A	T	7: 84,881,607 (GRCm39)	M491K	possibly damaging	Het
Vmn2r74	T	C	7: 85,606,630 (GRCm39)	I239V	probably benign	Het
Wrn	A	C	8: 33,758,939 (GRCm39)	C1006W	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
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
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'- GCTGTCTATAGCAGGTGCAG -3'
(R):5'- GAGTCAAGATGGCATAAACTCTGG -3'

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

Posted On

2019-09-13