Incidental Mutation 'IGL01668:Prpsap2'
| ID |
103358 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prpsap2
|
| Ensembl Gene |
ENSMUSG00000020528 |
| Gene Name |
phosphoribosyl pyrophosphate synthetase-associated protein 2 |
| Synonyms |
A230054F23Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01668
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
61620476-61652914 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61646277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 44
(V44A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004955]
[ENSMUST00000168115]
|
| AlphaFold |
Q8R574 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004955
AA Change: V44A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000004955
Gene: ENSMUSG00000020528
AA Change: V44A
| 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: ENSMUST00000123575
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151966
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168115
AA Change: V44A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126274
Gene: ENSMUSG00000020528
AA Change: V44A
| 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 |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3d1 |
A |
G |
10: 80,554,993 (GRCm39) |
V444A |
possibly damaging |
Het |
| Chd9 |
A |
T |
8: 91,753,404 (GRCm39) |
H1799L |
possibly damaging |
Het |
| Cic |
C |
T |
7: 24,990,629 (GRCm39) |
P1108S |
possibly damaging |
Het |
| Clba1 |
T |
C |
12: 112,773,264 (GRCm39) |
S86P |
probably damaging |
Het |
| Cldn16 |
T |
A |
16: 26,301,296 (GRCm39) |
Y201* |
probably null |
Het |
| Col6a6 |
C |
A |
9: 105,586,470 (GRCm39) |
R1850S |
probably damaging |
Het |
| Cryge |
A |
G |
1: 65,087,857 (GRCm39) |
Y151H |
probably damaging |
Het |
| Dhcr7 |
T |
A |
7: 143,397,048 (GRCm39) |
V180D |
probably damaging |
Het |
| Dmwd |
C |
T |
7: 18,815,080 (GRCm39) |
R577W |
probably damaging |
Het |
| Gm5884 |
A |
G |
6: 128,622,377 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5901 |
C |
T |
7: 105,026,771 (GRCm39) |
R180C |
probably benign |
Het |
| Hook2 |
A |
T |
8: 85,720,207 (GRCm39) |
Y131F |
possibly damaging |
Het |
| Hsf1 |
T |
C |
15: 76,381,162 (GRCm39) |
|
probably null |
Het |
| Ighv1-62-3 |
A |
G |
12: 115,424,613 (GRCm39) |
|
probably benign |
Het |
| Ikbke |
T |
G |
1: 131,184,675 (GRCm39) |
D666A |
probably benign |
Het |
| Il1r1 |
C |
T |
1: 40,352,489 (GRCm39) |
T556I |
probably benign |
Het |
| Larp4 |
T |
C |
15: 99,885,355 (GRCm39) |
S69P |
probably damaging |
Het |
| Lrrc27 |
G |
T |
7: 138,807,827 (GRCm39) |
|
probably benign |
Het |
| Marchf2 |
A |
C |
17: 33,922,070 (GRCm39) |
W97G |
probably damaging |
Het |
| Or4c10b |
C |
A |
2: 89,711,443 (GRCm39) |
P91Q |
probably benign |
Het |
| Or5b21 |
A |
G |
19: 12,839,231 (GRCm39) |
I31V |
probably benign |
Het |
| Or8k28 |
A |
G |
2: 86,285,746 (GRCm39) |
Y290H |
probably damaging |
Het |
| Pah |
T |
A |
10: 87,414,123 (GRCm39) |
I324N |
probably damaging |
Het |
| Pcdhb7 |
A |
G |
18: 37,476,205 (GRCm39) |
E447G |
probably benign |
Het |
| Prex2 |
T |
C |
1: 11,223,869 (GRCm39) |
V731A |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,415,941 (GRCm39) |
N1724D |
probably damaging |
Het |
| Sap130 |
A |
G |
18: 31,813,493 (GRCm39) |
N517D |
probably damaging |
Het |
| Slc13a3 |
A |
C |
2: 165,272,212 (GRCm39) |
F277C |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,339,119 (GRCm39) |
T86A |
probably benign |
Het |
| Tbc1d32 |
A |
T |
10: 55,999,673 (GRCm39) |
V833D |
probably benign |
Het |
| Washc2 |
A |
G |
6: 116,239,299 (GRCm39) |
D1290G |
probably damaging |
Het |
| Wdr87-ps |
G |
A |
7: 29,236,855 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Prpsap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation