Mutagenetix > Incidental Mutation

Incidental Mutation 'R5027:Prpsap2'

391453

Institutional Source

Beutler Lab

Gene Symbol

Prpsap2

Ensembl Gene

ENSMUSG00000020528

Gene Name

phosphoribosyl pyrophosphate synthetase-associated protein 2

Synonyms

A230054F23Rik

MMRRC Submission

042618-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5027 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61620476-61652914 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 61631830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126274 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004955] [ENSMUST00000168115]

AlphaFold

Q8R574

Predicted Effect

probably null
Transcript: ENSMUST00000004955

SMART Domains

Protein: ENSMUSP00000004955
Gene: ENSMUSG00000020528

Domain	Start	End	E-Value	Type
Pfam:Pribosyltran_N	21	138	2.4e-40	PFAM
Pfam:Pribosyl_synth	179	363	9.9e-103	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151966

Predicted Effect

probably null
Transcript: ENSMUST00000168115

SMART Domains

Protein: ENSMUSP00000126274
Gene: ENSMUSG00000020528

Domain	Start	End	E-Value	Type
Pfam:Pribosyltran_N	20	138	3e-41	PFAM
Pfam:Pribosyltran	161	335	3.7e-8	PFAM
Pfam:Pribosyl_synth	179	363	1.6e-103	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (97/100)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	G	7: 119,911,505 (GRCm39)	I1363R	probably benign	Het
Abcc1	T	C	16: 14,221,917 (GRCm39)		probably null	Het
Adgrf1	T	A	17: 43,614,638 (GRCm39)	F241I	probably damaging	Het
Afg3l1	T	C	8: 124,216,553 (GRCm39)	M264T	probably benign	Het
Ankle1	T	C	8: 71,861,623 (GRCm39)	S434P	probably damaging	Het
Apoe	C	T	7: 19,430,940 (GRCm39)	A101T	probably damaging	Het
Apol11a	G	T	15: 77,401,153 (GRCm39)	K213N	probably damaging	Het
Asap2	A	G	12: 21,254,082 (GRCm39)	M198V	probably damaging	Het
Atg4b	C	T	1: 93,714,297 (GRCm39)	A360V	probably benign	Het
B3gnt5	T	A	16: 19,588,444 (GRCm39)	V221D	probably damaging	Het
Baz2b	A	T	2: 59,928,988 (GRCm39)		probably benign	Het
Cep350	C	A	1: 155,809,100 (GRCm39)	W492L	probably benign	Het
Cln6	A	G	9: 62,754,375 (GRCm39)	Y139C	probably damaging	Het
Col16a1	C	T	4: 129,972,988 (GRCm39)	T643M	probably benign	Het
Cul9	C	T	17: 46,811,708 (GRCm39)	E2507K	probably damaging	Het
Dgkz	A	T	2: 91,775,888 (GRCm39)	V125D	probably benign	Het
Dnah17	T	C	11: 117,993,365 (GRCm39)	M1127V	probably benign	Het
Dnajb1	C	A	8: 84,336,732 (GRCm39)	D67E	probably benign	Het
Dync1li1	A	G	9: 114,542,612 (GRCm39)	D258G	probably damaging	Het
Egflam	G	T	15: 7,283,125 (GRCm39)	P311T	probably benign	Het
Fbxw11	T	A	11: 32,602,811 (GRCm39)		probably benign	Het
Fn3krp	T	G	11: 121,320,274 (GRCm39)	D206E	probably benign	Het
Fsip2	A	G	2: 82,819,477 (GRCm39)	H5070R	possibly damaging	Het
Gm6605	T	C	7: 38,149,683 (GRCm39)		noncoding transcript	Het
Gna14	C	A	19: 16,580,636 (GRCm39)	T158K	probably benign	Het
Gstt2	A	T	10: 75,667,726 (GRCm39)	I243N	probably damaging	Het
Haus6	C	T	4: 86,523,933 (GRCm39)	D50N	possibly damaging	Het
Hcrtr2	A	G	9: 76,230,578 (GRCm39)	I70T	probably benign	Het
Herc1	G	A	9: 66,380,811 (GRCm39)	V3563I	probably benign	Het
Herc1	A	T	9: 66,411,900 (GRCm39)	I4707F	probably damaging	Het
Hic2	C	T	16: 17,076,611 (GRCm39)	A480V	possibly damaging	Het
Hsd17b3	A	G	13: 64,210,720 (GRCm39)	Y212H	probably damaging	Het
Hspa5	A	G	2: 34,665,827 (GRCm39)	K557R	probably damaging	Het
Iqch	T	C	9: 63,432,294 (GRCm39)	E367G	possibly damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Lars2	A	G	9: 123,270,560 (GRCm39)	M551V	probably benign	Het
Lbp	T	C	2: 158,150,646 (GRCm39)	I57T	possibly damaging	Het
Liat1	A	G	11: 75,891,047 (GRCm39)	K54E	probably damaging	Het
Litaf	T	C	16: 10,778,868 (GRCm39)	Q142R	possibly damaging	Het
Lpar5	G	C	6: 125,059,110 (GRCm39)	R277P	possibly damaging	Het
Muc6	T	A	7: 141,216,349 (GRCm39)	I2710F	probably benign	Het
Myo7b	T	A	18: 32,108,265 (GRCm39)	I1199F	probably benign	Het
Naca	A	C	10: 127,883,990 (GRCm39)	E2140D	possibly damaging	Het
Nup214	G	T	2: 31,881,329 (GRCm39)	G396C	probably damaging	Het
Or2v1	A	T	11: 49,025,451 (GRCm39)	Q144L	probably benign	Het
Or5aq7	T	A	2: 86,938,150 (GRCm39)	I194F	probably benign	Het
Or5j3	G	A	2: 86,128,540 (GRCm39)	V127I	possibly damaging	Het
Or7g33	A	G	9: 19,448,573 (GRCm39)	Y218H	probably damaging	Het
Or8b57	A	T	9: 40,003,690 (GRCm39)	S187T	probably damaging	Het
P4htm	A	G	9: 108,456,492 (GRCm39)	V436A	probably benign	Het
Pfkm	A	G	15: 98,017,307 (GRCm39)	I117V	possibly damaging	Het
Phlpp1	T	G	1: 106,209,201 (GRCm39)	V518G	probably damaging	Het
Piwil4	G	A	9: 14,621,240 (GRCm39)	L598F	probably damaging	Het
Polr1b	T	G	2: 128,965,803 (GRCm39)	I815R	possibly damaging	Het
Ppef2	T	C	5: 92,382,150 (GRCm39)	N515S	probably damaging	Het
Prp2rt	A	G	13: 97,235,648 (GRCm39)	I33T	probably benign	Het
Rab27a	A	G	9: 73,002,695 (GRCm39)	D208G	probably benign	Het
Ralgds	A	G	2: 28,442,102 (GRCm39)		probably null	Het
Raph1	C	A	1: 60,535,436 (GRCm39)	C540F	probably damaging	Het
Rbsn	A	G	6: 92,175,231 (GRCm39)	L281P	probably damaging	Het
Rigi	T	A	4: 40,208,845 (GRCm39)	M756L	probably benign	Het
Rmdn1	G	T	4: 19,588,533 (GRCm39)	G110*	probably null	Het
Rph3a	T	A	5: 121,092,512 (GRCm39)	E363V	possibly damaging	Het
Serpina16	G	T	12: 103,641,262 (GRCm39)	Y154*	probably null	Het
Sh2d3c	G	A	2: 32,634,814 (GRCm39)	E198K	possibly damaging	Het
Shank2	C	A	7: 143,812,842 (GRCm39)	Y663*	probably null	Het
Sharpin	T	C	15: 76,234,225 (GRCm39)		probably benign	Het
Slitrk1	G	A	14: 109,149,740 (GRCm39)	P324S	probably benign	Het
Sorbs2	T	A	8: 46,199,571 (GRCm39)		probably null	Het
Spag16	C	T	1: 69,962,963 (GRCm39)		probably benign	Het
Sycp2l	A	T	13: 41,283,247 (GRCm39)		probably null	Het
Synj1	A	T	16: 90,737,407 (GRCm39)		probably null	Het
Sytl1	T	C	4: 132,983,530 (GRCm39)		probably benign	Het
Tkfc	A	T	19: 10,570,023 (GRCm39)		probably null	Het
Tnn	T	C	1: 159,972,781 (GRCm39)	T274A	probably damaging	Het
Trav14-2	T	A	14: 53,878,505 (GRCm39)	W35R	probably damaging	Het
Trim72	T	C	7: 127,607,137 (GRCm39)	M222T	probably damaging	Het
Trim9	A	G	12: 70,393,482 (GRCm39)	V154A	probably damaging	Het
Ttc7b	T	C	12: 100,268,001 (GRCm39)	Y266C	probably damaging	Het
Uchl3	T	A	14: 101,903,982 (GRCm39)	I43K	possibly damaging	Het
Vdac1	T	A	11: 52,279,305 (GRCm39)	N269K	possibly damaging	Het
Wdr72	T	A	9: 74,053,258 (GRCm39)	W187R	probably damaging	Het
Zfp30	T	A	7: 29,492,491 (GRCm39)	C248*	probably null	Het
Zfp940	A	T	7: 29,550,381 (GRCm39)		probably benign	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	probably benign	Het

Other mutations in Prpsap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01668:Prpsap2	APN	11	61,646,277 (GRCm39)	missense	probably benign	0.00
IGL03117:Prpsap2	APN	11	61,631,815 (GRCm39)	missense	probably benign	0.12
R0372:Prpsap2	UTSW	11	61,631,826 (GRCm39)	missense	possibly damaging	0.70
R0373:Prpsap2	UTSW	11	61,631,826 (GRCm39)	missense	possibly damaging	0.70
R0377:Prpsap2	UTSW	11	61,631,826 (GRCm39)	missense	possibly damaging	0.70
R0486:Prpsap2	UTSW	11	61,631,826 (GRCm39)	missense	possibly damaging	0.70
R0488:Prpsap2	UTSW	11	61,631,826 (GRCm39)	missense	possibly damaging	0.70
R0733:Prpsap2	UTSW	11	61,631,826 (GRCm39)	missense	possibly damaging	0.70
R2656:Prpsap2	UTSW	11	61,643,717 (GRCm39)	missense	probably benign	0.03
R2656:Prpsap2	UTSW	11	61,621,051 (GRCm39)	missense	probably benign	0.01
R5342:Prpsap2	UTSW	11	61,622,396 (GRCm39)	missense	probably damaging	1.00
R5861:Prpsap2	UTSW	11	61,627,870 (GRCm39)	missense	probably damaging	1.00
R5917:Prpsap2	UTSW	11	61,627,870 (GRCm39)	missense	probably damaging	1.00
R5918:Prpsap2	UTSW	11	61,627,870 (GRCm39)	missense	probably damaging	1.00
R6489:Prpsap2	UTSW	11	61,639,890 (GRCm39)	missense	probably damaging	0.96
R6741:Prpsap2	UTSW	11	61,631,771 (GRCm39)	critical splice donor site	probably null
R6856:Prpsap2	UTSW	11	61,621,097 (GRCm39)	missense	probably benign	0.11
R7543:Prpsap2	UTSW	11	61,635,797 (GRCm39)	missense	possibly damaging	0.89
R7908:Prpsap2	UTSW	11	61,647,098 (GRCm39)	missense	possibly damaging	0.64
R8896:Prpsap2	UTSW	11	61,643,736 (GRCm39)	missense	possibly damaging	0.95
R8941:Prpsap2	UTSW	11	61,627,870 (GRCm39)	missense	probably damaging	0.99
R9381:Prpsap2	UTSW	11	61,635,782 (GRCm39)	missense	probably benign	0.02
X0019:Prpsap2	UTSW	11	61,627,826 (GRCm39)	missense	probably benign	0.01
X0024:Prpsap2	UTSW	11	61,647,045 (GRCm39)	missense	probably benign	0.05
X0024:Prpsap2	UTSW	11	61,627,826 (GRCm39)	missense	probably benign	0.01
X0034:Prpsap2	UTSW	11	61,627,826 (GRCm39)	missense	probably benign	0.01
X0035:Prpsap2	UTSW	11	61,627,826 (GRCm39)	missense	probably benign	0.01
X0036:Prpsap2	UTSW	11	61,627,826 (GRCm39)	missense	probably benign	0.01
X0037:Prpsap2	UTSW	11	61,627,826 (GRCm39)	missense	probably benign	0.01
X0038:Prpsap2	UTSW	11	61,627,826 (GRCm39)	missense	probably benign	0.01
X0039:Prpsap2	UTSW	11	61,627,826 (GRCm39)	missense	probably benign	0.01
X0040:Prpsap2	UTSW	11	61,627,826 (GRCm39)	missense	probably benign	0.01
X0052:Prpsap2	UTSW	11	61,627,826 (GRCm39)	missense	probably benign	0.01
X0053:Prpsap2	UTSW	11	61,627,826 (GRCm39)	missense	probably benign	0.01
X0054:Prpsap2	UTSW	11	61,627,826 (GRCm39)	missense	probably benign	0.01
X0058:Prpsap2	UTSW	11	61,627,826 (GRCm39)	missense	probably benign	0.01
X0060:Prpsap2	UTSW	11	61,627,826 (GRCm39)	missense	probably benign	0.01
X0061:Prpsap2	UTSW	11	61,627,826 (GRCm39)	missense	probably benign	0.01
X0062:Prpsap2	UTSW	11	61,627,826 (GRCm39)	missense	probably benign	0.01
X0063:Prpsap2	UTSW	11	61,627,826 (GRCm39)	missense	probably benign	0.01
Z1186:Prpsap2	UTSW	11	61,647,078 (GRCm39)	missense	possibly damaging	0.64
Z1187:Prpsap2	UTSW	11	61,647,078 (GRCm39)	missense	possibly damaging	0.64
Z1188:Prpsap2	UTSW	11	61,647,078 (GRCm39)	missense	possibly damaging	0.64
Z1189:Prpsap2	UTSW	11	61,647,078 (GRCm39)	missense	possibly damaging	0.64
Z1190:Prpsap2	UTSW	11	61,647,078 (GRCm39)	missense	possibly damaging	0.64
Z1191:Prpsap2	UTSW	11	61,647,078 (GRCm39)	missense	possibly damaging	0.64
Z1192:Prpsap2	UTSW	11	61,647,078 (GRCm39)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- TCTTTCTAACATTAGAGGTGACAGG -3'
(R):5'- AGAGCACTTGTTCTACATTACTGGG -3'

Sequencing Primer
(F):5'- CAGGATAATACTAAGTTAGTCCACGG -3'
(R):5'- AATTGATCGCAGGACCTCTG -3'

Posted On

2016-06-06