Incidental Mutation 'R0486:Prpsap2'
ID |
42296 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prpsap2
|
Ensembl Gene |
ENSMUSG00000020528 |
Gene Name |
phosphoribosyl pyrophosphate synthetase-associated protein 2 |
Synonyms |
A230054F23Rik |
MMRRC Submission |
038685-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0486 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
61620476-61652914 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 61631826 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 177
(I177T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126274
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004955]
[ENSMUST00000168115]
|
AlphaFold |
Q8R574 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004955
AA Change: I177T
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000004955 Gene: ENSMUSG00000020528 AA Change: I177T
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 |
possibly damaging
Transcript: ENSMUST00000168115
AA Change: I177T
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000126274 Gene: ENSMUSG00000020528 AA Change: I177T
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 |
0.2853 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
Validation Efficiency |
98% (65/66) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco1 |
T |
C |
4: 40,177,783 (GRCm39) |
L268P |
probably damaging |
Het |
Adam22 |
A |
T |
5: 8,380,048 (GRCm39) |
H83Q |
probably damaging |
Het |
Anln |
T |
C |
9: 22,264,122 (GRCm39) |
D886G |
probably benign |
Het |
Arhgef11 |
T |
A |
3: 87,596,159 (GRCm39) |
|
probably null |
Het |
Ark2c |
T |
A |
18: 77,571,950 (GRCm39) |
Q91L |
probably damaging |
Het |
Arl8b |
A |
T |
6: 108,792,287 (GRCm39) |
D116V |
possibly damaging |
Het |
BC051665 |
C |
T |
13: 60,931,859 (GRCm39) |
G180D |
probably damaging |
Het |
Bloc1s2 |
A |
G |
19: 44,131,589 (GRCm39) |
|
probably benign |
Het |
Ccdc185 |
T |
G |
1: 182,575,424 (GRCm39) |
S422R |
possibly damaging |
Het |
Cd101 |
T |
C |
3: 100,915,408 (GRCm39) |
K720E |
possibly damaging |
Het |
Cdh23 |
C |
A |
10: 60,222,725 (GRCm39) |
A1236S |
probably damaging |
Het |
Chd1 |
G |
A |
17: 15,954,604 (GRCm39) |
A491T |
probably damaging |
Het |
Chdh |
T |
C |
14: 29,754,815 (GRCm39) |
V275A |
possibly damaging |
Het |
Cmtm2b |
A |
T |
8: 105,057,047 (GRCm39) |
I136F |
probably damaging |
Het |
Cps1 |
T |
C |
1: 67,204,551 (GRCm39) |
V457A |
probably damaging |
Het |
Cwf19l1 |
A |
G |
19: 44,103,129 (GRCm39) |
V362A |
probably benign |
Het |
Cyp4f17 |
T |
C |
17: 32,743,797 (GRCm39) |
|
probably benign |
Het |
Cyp4f18 |
C |
A |
8: 72,749,861 (GRCm39) |
V263L |
probably benign |
Het |
Dclre1a |
A |
G |
19: 56,529,922 (GRCm39) |
|
probably benign |
Het |
Dpp6 |
T |
C |
5: 27,866,640 (GRCm39) |
I446T |
probably benign |
Het |
F11r |
T |
C |
1: 171,288,156 (GRCm39) |
W61R |
probably damaging |
Het |
Fam120b |
C |
T |
17: 15,646,550 (GRCm39) |
|
probably benign |
Het |
Fastkd2 |
T |
C |
1: 63,791,499 (GRCm39) |
V669A |
possibly damaging |
Het |
Foxg1 |
T |
C |
12: 49,431,314 (GRCm39) |
|
probably benign |
Het |
Foxo3 |
A |
G |
10: 42,073,477 (GRCm39) |
Y347H |
probably damaging |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Gbp7 |
C |
A |
3: 142,252,078 (GRCm39) |
|
probably benign |
Het |
Glipr1 |
T |
C |
10: 111,832,754 (GRCm39) |
|
probably benign |
Het |
Gm11555 |
A |
G |
11: 99,540,986 (GRCm39) |
S8P |
unknown |
Het |
H6pd |
G |
A |
4: 150,067,393 (GRCm39) |
|
probably benign |
Het |
Haus8 |
C |
T |
8: 71,709,182 (GRCm39) |
M75I |
probably benign |
Het |
Haus8 |
C |
A |
8: 71,709,181 (GRCm39) |
G76W |
probably damaging |
Het |
Kcnj13 |
C |
A |
1: 87,314,752 (GRCm39) |
V157L |
probably damaging |
Het |
Kcnt2 |
T |
A |
1: 140,437,218 (GRCm39) |
C550* |
probably null |
Het |
Kdm5d |
A |
G |
Y: 927,107 (GRCm39) |
N615S |
probably damaging |
Het |
Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
Ncapd2 |
G |
A |
6: 125,160,990 (GRCm39) |
R292* |
probably null |
Het |
Ngef |
T |
A |
1: 87,406,848 (GRCm39) |
N640I |
probably damaging |
Het |
Nhlrc3 |
T |
C |
3: 53,359,858 (GRCm39) |
Y335C |
probably damaging |
Het |
Nipbl |
A |
T |
15: 8,368,354 (GRCm39) |
|
probably benign |
Het |
Nop2 |
A |
G |
6: 125,117,636 (GRCm39) |
K434R |
probably null |
Het |
Nr4a3 |
T |
C |
4: 48,056,525 (GRCm39) |
|
probably benign |
Het |
Or8b35 |
A |
G |
9: 37,903,998 (GRCm39) |
N70S |
possibly damaging |
Het |
Piezo2 |
A |
C |
18: 63,162,132 (GRCm39) |
I2233R |
probably damaging |
Het |
Prag1 |
A |
T |
8: 36,613,787 (GRCm39) |
E1113V |
probably damaging |
Het |
Psmd1 |
T |
A |
1: 86,022,012 (GRCm39) |
N611K |
probably damaging |
Het |
Ptpn7 |
C |
T |
1: 135,065,096 (GRCm39) |
T168I |
probably damaging |
Het |
Pus1 |
A |
T |
5: 110,927,596 (GRCm39) |
V53E |
probably damaging |
Het |
Rgs22 |
A |
G |
15: 36,093,028 (GRCm39) |
M415T |
probably damaging |
Het |
Rnf17 |
C |
T |
14: 56,751,632 (GRCm39) |
T1490M |
probably benign |
Het |
Rnf20 |
C |
A |
4: 49,645,907 (GRCm39) |
L332I |
possibly damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Spam1 |
A |
T |
6: 24,796,394 (GRCm39) |
Q115L |
probably damaging |
Het |
Syce1l |
A |
T |
8: 114,381,395 (GRCm39) |
|
probably null |
Het |
Synj1 |
T |
C |
16: 90,735,151 (GRCm39) |
|
probably benign |
Het |
Tas2r126 |
A |
T |
6: 42,412,225 (GRCm39) |
I253F |
probably benign |
Het |
Tecpr2 |
G |
A |
12: 110,862,803 (GRCm39) |
V72I |
probably benign |
Het |
Tfap2a |
G |
T |
13: 40,882,170 (GRCm39) |
P45Q |
probably damaging |
Het |
Trip12 |
C |
A |
1: 84,738,805 (GRCm39) |
G714* |
probably null |
Het |
Wdr31 |
A |
G |
4: 62,372,130 (GRCm39) |
S330P |
probably damaging |
Het |
Wdr64 |
T |
C |
1: 175,622,769 (GRCm39) |
|
probably benign |
Het |
Yes1 |
T |
A |
5: 32,812,926 (GRCm39) |
Y343* |
probably null |
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 |
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 |
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'- CTGGCATTGGAGAAACTGAGATTGGA -3'
(R):5'- AGGCATACACATCACACCTGGTTTG -3'
Sequencing Primer
(F):5'- CTGAGATTGGAGAAAAATGAACAAAC -3'
(R):5'- cataccagaagagggcatcag -3'
|
Posted On |
2013-05-23 |