Incidental Mutation 'R5917:Prpsap2'
ID |
461418 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prpsap2
|
Ensembl Gene |
ENSMUSG00000020528 |
Gene Name |
phosphoribosyl pyrophosphate synthetase-associated protein 2 |
Synonyms |
A230054F23Rik |
MMRRC Submission |
044114-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5917 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
61620476-61652914 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 61627870 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 202
(R202H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126274
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004955]
[ENSMUST00000168115]
|
AlphaFold |
Q8R574 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000004955
AA Change: R202H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000004955 Gene: ENSMUSG00000020528 AA Change: R202H
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 damaging
Transcript: ENSMUST00000168115
AA Change: R202H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126274 Gene: ENSMUSG00000020528 AA Change: R202H
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 |
0.2269 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
Validation Efficiency |
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
A |
12: 118,832,516 (GRCm39) |
R1153* |
probably null |
Het |
Amdhd1 |
T |
C |
10: 93,360,332 (GRCm39) |
H409R |
possibly damaging |
Het |
Anks1b |
C |
T |
10: 90,412,803 (GRCm39) |
|
probably benign |
Het |
Ascc2 |
T |
C |
11: 4,631,506 (GRCm39) |
L649P |
probably benign |
Het |
Chst15 |
A |
G |
7: 131,872,246 (GRCm39) |
F12L |
probably benign |
Het |
Clec4a4 |
A |
T |
6: 122,981,017 (GRCm39) |
K83N |
probably benign |
Het |
Comp |
T |
A |
8: 70,829,011 (GRCm39) |
|
probably null |
Het |
Cryz |
T |
A |
3: 154,327,403 (GRCm39) |
S144T |
probably benign |
Het |
Ctss |
A |
G |
3: 95,450,424 (GRCm39) |
D125G |
probably benign |
Het |
Dact1 |
G |
T |
12: 71,365,456 (GRCm39) |
V746L |
possibly damaging |
Het |
Dhx29 |
A |
G |
13: 113,099,377 (GRCm39) |
H1134R |
probably damaging |
Het |
Dlgap4 |
A |
G |
2: 156,546,460 (GRCm39) |
D376G |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,615,749 (GRCm39) |
H1660L |
probably damaging |
Het |
Ep300 |
T |
A |
15: 81,512,808 (GRCm39) |
|
probably benign |
Het |
Fbxo30 |
A |
T |
10: 11,165,262 (GRCm39) |
|
probably null |
Het |
Fcrl2 |
T |
A |
3: 87,164,094 (GRCm39) |
H345L |
probably damaging |
Het |
Galnt11 |
C |
A |
5: 25,452,670 (GRCm39) |
|
probably null |
Het |
Il31ra |
A |
G |
13: 112,682,846 (GRCm39) |
C87R |
probably benign |
Het |
Itga4 |
A |
T |
2: 79,117,442 (GRCm39) |
Q416L |
probably damaging |
Het |
Kcnt2 |
A |
T |
1: 140,461,666 (GRCm39) |
T806S |
probably damaging |
Het |
Lama2 |
A |
G |
10: 27,066,693 (GRCm39) |
S1063P |
probably damaging |
Het |
Lama4 |
T |
A |
10: 38,924,028 (GRCm39) |
S479T |
probably benign |
Het |
Lgi4 |
C |
T |
7: 30,759,603 (GRCm39) |
T53M |
possibly damaging |
Het |
Limk1 |
A |
G |
5: 134,686,789 (GRCm39) |
F533L |
probably damaging |
Het |
Loxl1 |
A |
G |
9: 58,220,006 (GRCm39) |
L55P |
probably damaging |
Het |
Map1a |
A |
G |
2: 121,135,697 (GRCm39) |
E1933G |
probably damaging |
Het |
Matn2 |
T |
A |
15: 34,409,912 (GRCm39) |
C447* |
probably null |
Het |
Mmrn1 |
T |
C |
6: 60,950,134 (GRCm39) |
|
probably null |
Het |
Or2a7 |
C |
T |
6: 43,151,646 (GRCm39) |
S242F |
probably damaging |
Het |
Or4a66 |
A |
T |
2: 88,531,049 (GRCm39) |
I208N |
possibly damaging |
Het |
Or4d1 |
A |
T |
11: 87,805,215 (GRCm39) |
N172K |
probably damaging |
Het |
Otor |
A |
G |
2: 142,920,431 (GRCm39) |
I4M |
probably benign |
Het |
P2rx3 |
A |
T |
2: 84,865,591 (GRCm39) |
V18E |
probably damaging |
Het |
Pcdh7 |
T |
C |
5: 57,879,097 (GRCm39) |
V884A |
probably damaging |
Het |
Pcdhb4 |
T |
A |
18: 37,442,619 (GRCm39) |
V643D |
probably damaging |
Het |
Pelo |
A |
G |
13: 115,225,930 (GRCm39) |
S176P |
possibly damaging |
Het |
Ppp2r3d |
A |
T |
9: 101,089,183 (GRCm39) |
V380E |
probably benign |
Het |
Proc |
T |
A |
18: 32,260,513 (GRCm39) |
D204V |
probably benign |
Het |
Resf1 |
T |
C |
6: 149,236,179 (GRCm39) |
F1500L |
probably damaging |
Het |
Rtl1 |
T |
G |
12: 109,558,087 (GRCm39) |
T1251P |
possibly damaging |
Het |
Sema6a |
T |
G |
18: 47,414,405 (GRCm39) |
I482L |
probably benign |
Het |
Smpdl3a |
T |
A |
10: 57,681,654 (GRCm39) |
|
probably null |
Het |
Strc |
T |
A |
2: 121,209,790 (GRCm39) |
M178L |
probably benign |
Het |
Taok1 |
A |
T |
11: 77,451,144 (GRCm39) |
M312K |
probably damaging |
Het |
Tle2 |
T |
C |
10: 81,416,750 (GRCm39) |
|
probably null |
Het |
Tle3 |
A |
G |
9: 61,316,190 (GRCm39) |
D296G |
probably benign |
Het |
Trank1 |
A |
G |
9: 111,191,485 (GRCm39) |
D498G |
probably benign |
Het |
Vars1 |
C |
A |
17: 35,231,491 (GRCm39) |
L672M |
probably damaging |
Het |
Vps13d |
G |
A |
4: 144,826,580 (GRCm39) |
T2866I |
probably damaging |
Het |
Zfp423 |
C |
A |
8: 88,508,860 (GRCm39) |
E370* |
probably null |
Het |
Zfp521 |
T |
A |
18: 13,978,612 (GRCm39) |
K600N |
probably damaging |
Het |
Zfp788 |
A |
G |
7: 41,298,572 (GRCm39) |
K351E |
probably benign |
Het |
Zfp963 |
A |
T |
8: 70,195,510 (GRCm39) |
|
probably null |
Het |
Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
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 |
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'- TCAAGCAGCTCAGAGAACAG -3'
(R):5'- CTGAATCTGAAGTGGGCATTCTC -3'
Sequencing Primer
(F):5'- CAGTGGCAAAGAGGTACTTGTG -3'
(R):5'- ACTCAATCTGTAGACCAGGCTGG -3'
|
Posted On |
2017-02-28 |