Mutagenetix > Incidental Mutation

Incidental Mutation 'R7543:Prpsap2'

584024

Institutional Source

Beutler Lab

Gene Symbol

Prpsap2

Ensembl Gene

ENSMUSG00000020528

Gene Name

phosphoribosyl pyrophosphate synthetase-associated protein 2

Synonyms

A230054F23Rik

MMRRC Submission

045615-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7543 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61620476-61652914 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61635797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 168 (F168I)

Ref Sequence

ENSEMBL: ENSMUSP00000004955 (fasta)

Gene Model

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

AlphaFold

Q8R574

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004955
AA Change: F168I

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000004955
Gene: ENSMUSG00000020528
AA Change: F168I

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

possibly damaging
Transcript: ENSMUST00000168115
AA Change: F168I

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126274
Gene: ENSMUSG00000020528
AA Change: F168I

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

0.2529

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	A	5: 125,559,920 (GRCm39)	S54T	probably damaging	Het
Acsl5	G	A	19: 55,266,615 (GRCm39)	V59I		Het
Acss2	A	T	2: 155,391,755 (GRCm39)	I203F	probably damaging	Het
Add2	A	G	6: 86,083,207 (GRCm39)	N435S	probably damaging	Het
Afap1l1	T	C	18: 61,889,972 (GRCm39)	D88G	probably benign	Het
Ajm1	C	A	2: 25,467,410 (GRCm39)	A834S	possibly damaging	Het
Ank3	C	T	10: 69,786,846 (GRCm39)	T970M	possibly damaging	Het
Ap3b2	A	T	7: 81,115,894 (GRCm39)		probably null	Het
Apc2	A	G	10: 80,150,720 (GRCm39)	K1925E	possibly damaging	Het
Aspscr1	A	G	11: 120,600,249 (GRCm39)	N130D	unknown	Het
B3glct	A	G	5: 149,677,604 (GRCm39)	D411G	probably damaging	Het
Bard1	T	C	1: 71,114,589 (GRCm39)	K131E	probably damaging	Het
Bche	T	C	3: 73,609,066 (GRCm39)	D120G	probably damaging	Het
Brms1l	A	T	12: 55,914,997 (GRCm39)	D302V	probably damaging	Het
Ccdc191	T	A	16: 43,718,572 (GRCm39)	Y56*	probably null	Het
Cela3a	T	A	4: 137,129,883 (GRCm39)	H246L	probably damaging	Het
Col11a2	A	T	17: 34,269,430 (GRCm39)	D440V	unknown	Het
Cplane1	T	C	15: 8,254,876 (GRCm39)	I21T	unknown	Het
Dag1	C	T	9: 108,095,280 (GRCm39)	V71I	probably benign	Het
Ddx23	A	G	15: 98,556,139 (GRCm39)	S60P	unknown	Het
Dync1h1	G	T	12: 110,580,541 (GRCm39)	R134L	probably benign	Het
Dync1i1	T	C	6: 5,784,464 (GRCm39)	S103P	possibly damaging	Het
Erap1	T	A	13: 74,822,753 (GRCm39)	D755E	probably damaging	Het
Exosc8	T	C	3: 54,636,669 (GRCm39)	T221A	probably benign	Het
Fbxo4	T	C	15: 4,007,385 (GRCm39)	D93G	probably damaging	Het
Fzd5	A	G	1: 64,774,999 (GRCm39)	V254A	probably damaging	Het
Gbp3	T	C	3: 142,272,341 (GRCm39)	V281A	probably damaging	Het
Gcc2	T	A	10: 58,107,086 (GRCm39)	I774K	probably benign	Het
Gpr132	A	C	12: 112,815,822 (GRCm39)	C335G	probably benign	Het
Gpr162	G	T	6: 124,838,355 (GRCm39)	Y98*	probably null	Het
H2-T24	T	C	17: 36,325,743 (GRCm39)	T283A	possibly damaging	Het
Hoxc6	A	G	15: 102,918,186 (GRCm39)	Y50C	probably damaging	Het
Il4i1	A	G	7: 44,486,199 (GRCm39)	N53S	possibly damaging	Het
Iqcf3	T	C	9: 106,431,425 (GRCm39)	K60R	possibly damaging	Het
Kif24	A	T	4: 41,413,993 (GRCm39)	Y316*	probably null	Het
Krt18	A	G	15: 101,939,896 (GRCm39)	K365E	probably damaging	Het
Lrguk	T	A	6: 34,025,870 (GRCm39)	L222*	probably null	Het
Mbd1	T	G	18: 74,407,520 (GRCm39)	V210G	probably damaging	Het
Ms4a6b	A	G	19: 11,499,155 (GRCm39)	I90V	not run	Het
Muc16	A	G	9: 18,556,028 (GRCm39)	S3422P	unknown	Het
Mynn	G	A	3: 30,661,188 (GRCm39)	W90*	probably null	Het
Or5p5	T	A	7: 107,414,308 (GRCm39)	N172K	probably damaging	Het
Pdpr	T	A	8: 111,859,520 (GRCm39)	H687Q	probably damaging	Het
Pkd1	A	G	17: 24,814,227 (GRCm39)	E4199G	probably damaging	Het
Plekhg5	A	G	4: 152,192,491 (GRCm39)	E517G	probably damaging	Het
Plxna1	T	C	6: 89,299,837 (GRCm39)	D1644G	probably damaging	Het
Pon1	C	T	6: 5,168,400 (GRCm39)	V336M	possibly damaging	Het
Pop1	T	A	15: 34,530,593 (GRCm39)	L1027Q	probably damaging	Het
Pramel1	T	C	4: 143,124,993 (GRCm39)	S306P	probably damaging	Het
Rabgap1	T	A	2: 37,359,444 (GRCm39)	D2E	probably damaging	Het
Rgmb	A	T	17: 16,027,777 (GRCm39)	L314Q	probably damaging	Het
Ryr2	C	T	13: 11,653,317 (GRCm39)		probably null	Het
Samd4b	A	T	7: 28,113,711 (GRCm39)	S85T	probably benign	Het
Sfrp5	T	C	19: 42,187,302 (GRCm39)	D256G	possibly damaging	Het
Slc25a23	A	G	17: 57,365,106 (GRCm39)		probably null	Het
Sox5	A	G	6: 143,786,905 (GRCm39)	I589T	probably damaging	Het
Sybu	T	A	15: 44,546,848 (GRCm39)		probably null	Het
Syne2	A	G	12: 75,953,616 (GRCm39)	E515G	possibly damaging	Het
Tbc1d17	G	A	7: 44,495,503 (GRCm39)	A107V	probably benign	Het
Tcstv2c	A	C	13: 120,616,290 (GRCm39)	E43A	probably damaging	Het
Tex50	G	T	1: 160,984,817 (GRCm39)	T141K	possibly damaging	Het
Tmc7	A	G	7: 118,144,979 (GRCm39)	L527P	probably benign	Het
Tns4	T	A	11: 98,963,079 (GRCm39)	D547V	probably benign	Het
Topors	A	G	4: 40,268,312 (GRCm39)	S65P	probably damaging	Het
Trdc	T	A	14: 54,381,692 (GRCm39)	S126T		Het
Ttc27	A	T	17: 75,024,745 (GRCm39)		probably benign	Het
Wdfy3	A	C	5: 102,083,925 (GRCm39)	I787S	probably benign	Het
Zc3h11a	T	C	1: 133,554,768 (GRCm39)	D404G	possibly damaging	Het
Zfp799	A	G	17: 33,039,534 (GRCm39)	I244T	probably benign	Het
Zfp93	A	G	7: 23,974,533 (GRCm39)	T173A	probably benign	Het
Zfp953	T	A	13: 67,495,953 (GRCm39)	L29F	probably damaging	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
R5027:Prpsap2	UTSW	11	61,631,830 (GRCm39)	splice site	probably null
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
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'- TGGTCCAACAAAGGGTCAGC -3'
(R):5'- AGAGGTGCCAGGTTTTCATG -3'

Sequencing Primer
(F):5'- AACTGATGTACACGTCTGGC -3'
(R):5'- GCCAGGTTTTCATGATAGGACAG -3'

Posted On

2019-10-17