Incidental Mutation 'R6741:Prpsap2'
| ID |
530460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpsap2
|
| Ensembl Gene |
ENSMUSG00000020528 |
| Gene Name |
phosphoribosyl pyrophosphate synthetase-associated protein 2 |
| Synonyms |
A230054F23Rik |
| MMRRC Submission |
044858-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6741 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
61620476-61652914 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 61631771 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
97% (34/35) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actrt3 |
A |
C |
3: 30,652,663 (GRCm39) |
F144V |
possibly damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,883,503 (GRCm39) |
I1342T |
probably benign |
Het |
| Dbn1 |
A |
G |
13: 55,629,350 (GRCm39) |
|
probably null |
Het |
| Defb12 |
T |
C |
8: 19,164,757 (GRCm39) |
E27G |
probably benign |
Het |
| Dennd2b |
A |
G |
7: 109,144,304 (GRCm39) |
Y534H |
possibly damaging |
Het |
| Dthd1 |
A |
T |
5: 63,000,289 (GRCm39) |
H537L |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,824,761 (GRCm39) |
S2359T |
unknown |
Het |
| Epha5 |
T |
C |
5: 84,254,557 (GRCm39) |
I572V |
possibly damaging |
Het |
| Grb10 |
C |
A |
11: 11,886,717 (GRCm39) |
|
probably null |
Het |
| Hectd2 |
T |
C |
19: 36,589,759 (GRCm39) |
I628T |
probably damaging |
Het |
| Il17rb |
T |
A |
14: 29,722,293 (GRCm39) |
Q246L |
possibly damaging |
Het |
| Knop1 |
C |
T |
7: 118,445,061 (GRCm39) |
R301Q |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 41,136,001 (GRCm39) |
I1770M |
possibly damaging |
Het |
| Mgst1 |
A |
C |
6: 138,127,836 (GRCm39) |
D66A |
probably damaging |
Het |
| Nags |
A |
G |
11: 102,037,718 (GRCm39) |
D237G |
possibly damaging |
Het |
| Nfatc2ip |
T |
A |
7: 125,995,182 (GRCm39) |
Q122L |
possibly damaging |
Het |
| Nod2 |
T |
C |
8: 89,379,694 (GRCm39) |
V72A |
probably damaging |
Het |
| Notch3 |
G |
T |
17: 32,362,458 (GRCm39) |
P1389Q |
probably benign |
Het |
| Or5ac25 |
A |
G |
16: 59,181,918 (GRCm39) |
L221P |
probably damaging |
Het |
| Plekhn1 |
A |
T |
4: 156,306,249 (GRCm39) |
I607N |
probably damaging |
Het |
| Plekho2 |
C |
A |
9: 65,471,197 (GRCm39) |
R84L |
probably damaging |
Het |
| Prag1 |
A |
T |
8: 36,614,434 (GRCm39) |
M1329L |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,080,565 (GRCm39) |
S1230P |
probably benign |
Het |
| Rigi |
A |
G |
4: 40,211,624 (GRCm39) |
I648T |
probably damaging |
Het |
| Rptor |
T |
G |
11: 119,786,803 (GRCm39) |
L1256R |
possibly damaging |
Het |
| Sesn3 |
T |
C |
9: 14,231,636 (GRCm39) |
I189T |
possibly damaging |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Slc39a4 |
C |
T |
15: 76,498,283 (GRCm39) |
D385N |
probably damaging |
Het |
| Tnfsf13b |
T |
C |
8: 10,057,314 (GRCm39) |
F128S |
possibly damaging |
Het |
| Vmn1r49 |
A |
G |
6: 90,049,195 (GRCm39) |
V269A |
probably benign |
Het |
| Vmn2r69 |
T |
A |
7: 85,061,724 (GRCm39) |
E83D |
probably benign |
Het |
| Vmn2r76 |
T |
C |
7: 85,879,560 (GRCm39) |
N247D |
probably benign |
Het |
| Zmym4 |
A |
G |
4: 126,808,878 (GRCm39) |
S390P |
possibly 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 |
|
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'- TATGACTGGCATTGGAGAAACTG -3'
(R):5'- GCACTTGTTCTACATTACTGGG -3'
Sequencing Primer
(F):5'- CTGGCATTGGAGAAACTGAGATTG -3'
(R):5'- AATTGATCGCAGGACCTCTG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation