Incidental Mutation 'R2656:Prpsap2'
| ID |
252781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpsap2
|
| Ensembl Gene |
ENSMUSG00000020528 |
| Gene Name |
phosphoribosyl pyrophosphate synthetase-associated protein 2 |
| Synonyms |
A230054F23Rik |
| MMRRC Submission |
040431-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2656 (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 A
at 61621051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 343
(M343I)
|
| 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: M343I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000004955
Gene: ENSMUSG00000020528
AA Change: M343I
| 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 benign
Transcript: ENSMUST00000168115
AA Change: M343I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000126274
Gene: ENSMUSG00000020528
AA Change: M343I
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
G |
5: 8,167,696 (GRCm39) |
C655R |
probably damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,401,436 (GRCm39) |
V864D |
possibly damaging |
Het |
| Angptl3 |
A |
G |
4: 98,926,201 (GRCm39) |
I444V |
probably benign |
Het |
| Atp8b2 |
C |
T |
3: 89,849,065 (GRCm39) |
A1090T |
probably benign |
Het |
| Bcl2l2 |
C |
T |
14: 55,122,889 (GRCm39) |
R47C |
probably benign |
Het |
| Ces2a |
G |
A |
8: 105,462,766 (GRCm39) |
M118I |
probably benign |
Het |
| Cyp4a29 |
T |
G |
4: 115,106,921 (GRCm39) |
L193V |
possibly damaging |
Het |
| Dpp8 |
A |
G |
9: 64,988,086 (GRCm39) |
Y877C |
probably damaging |
Het |
| Enpp6 |
C |
T |
8: 47,535,453 (GRCm39) |
R33* |
probably null |
Het |
| Fsip2 |
G |
A |
2: 82,809,389 (GRCm39) |
D1903N |
possibly damaging |
Het |
| Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
| Gm14412 |
A |
T |
2: 177,006,993 (GRCm39) |
C301S |
unknown |
Het |
| Gpatch2l |
T |
A |
12: 86,335,584 (GRCm39) |
D428E |
probably damaging |
Het |
| Grin2b |
C |
T |
6: 135,710,427 (GRCm39) |
G1040S |
probably damaging |
Het |
| Has2 |
T |
C |
15: 56,545,224 (GRCm39) |
D126G |
possibly damaging |
Het |
| Itgam |
T |
G |
7: 127,715,987 (GRCm39) |
L1120R |
probably null |
Het |
| Kank4 |
T |
C |
4: 98,667,194 (GRCm39) |
N418D |
probably damaging |
Het |
| Kcnk3 |
T |
C |
5: 30,780,015 (GRCm39) |
V355A |
possibly damaging |
Het |
| Lonrf2 |
C |
T |
1: 38,855,041 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
A |
T |
2: 41,401,593 (GRCm39) |
C240S |
probably damaging |
Het |
| Mapk8ip3 |
T |
G |
17: 25,131,781 (GRCm39) |
E386A |
probably damaging |
Het |
| Mtmr14 |
A |
G |
6: 113,217,327 (GRCm39) |
I80V |
probably benign |
Het |
| Nav2 |
A |
C |
7: 49,195,690 (GRCm39) |
D961A |
probably damaging |
Het |
| Nmt2 |
A |
G |
2: 3,308,050 (GRCm39) |
D107G |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,394,681 (GRCm39) |
K761E |
probably damaging |
Het |
| Ogdh |
A |
G |
11: 6,298,678 (GRCm39) |
T641A |
probably benign |
Het |
| Ogdhl |
T |
G |
14: 32,054,783 (GRCm39) |
F244V |
possibly damaging |
Het |
| Or2ag17 |
T |
A |
7: 106,389,720 (GRCm39) |
T163S |
probably damaging |
Het |
| Or51k1 |
G |
A |
7: 103,661,072 (GRCm39) |
S279L |
probably damaging |
Het |
| Or5b102 |
A |
T |
19: 13,041,348 (GRCm39) |
H191L |
probably benign |
Het |
| Or5b97 |
A |
G |
19: 12,879,030 (GRCm39) |
I38T |
probably benign |
Het |
| Pfpl |
T |
C |
19: 12,407,600 (GRCm39) |
I617T |
probably benign |
Het |
| Ppfia2 |
T |
G |
10: 106,701,268 (GRCm39) |
|
probably null |
Het |
| Prickle1 |
T |
C |
15: 93,401,251 (GRCm39) |
E411G |
probably benign |
Het |
| Ranbp17 |
A |
T |
11: 33,193,122 (GRCm39) |
D977E |
probably benign |
Het |
| Rin1 |
T |
C |
19: 5,102,204 (GRCm39) |
S238P |
probably damaging |
Het |
| Scap |
C |
T |
9: 110,203,087 (GRCm39) |
R254W |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,356,862 (GRCm39) |
D194G |
probably damaging |
Het |
| Shisa7 |
T |
C |
7: 4,832,818 (GRCm39) |
H481R |
possibly damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,718,029 (GRCm39) |
Y323H |
probably damaging |
Het |
| Thoc2l |
A |
G |
5: 104,667,181 (GRCm39) |
I568V |
probably benign |
Het |
| Tlr9 |
T |
C |
9: 106,101,140 (GRCm39) |
S144P |
probably benign |
Het |
| Tmem69 |
T |
A |
4: 116,410,787 (GRCm39) |
K61M |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,770,331 (GRCm39) |
D134G |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,724,614 (GRCm39) |
|
probably benign |
Het |
| Vwf |
A |
G |
6: 125,532,324 (GRCm39) |
T26A |
probably benign |
Het |
| Zbtb16 |
A |
T |
9: 48,743,988 (GRCm39) |
I108N |
probably damaging |
Het |
| Zc3h7b |
T |
A |
15: 81,664,631 (GRCm39) |
Y497N |
probably damaging |
Het |
| Zfp652 |
A |
G |
11: 95,640,155 (GRCm39) |
S27G |
probably damaging |
Het |
| Zfp808 |
A |
G |
13: 62,320,666 (GRCm39) |
T632A |
possibly damaging |
Het |
| Znhit6 |
T |
C |
3: 145,283,924 (GRCm39) |
|
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 |
|
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 |
|
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 |
61,627,826 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0024:Prpsap2
|
UTSW |
11 |
61,647,045 (GRCm39) |
missense |
probably benign |
0.05 |
|
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'- ACCTTCACAGGAATGAATGAGG -3'
(R):5'- GTACTGGCCCTAAACCTAGAC -3'
Sequencing Primer
(F):5'- CTTCACAGGAATGAATGAGGAAGATG -3'
(R):5'- TGGCCCTAAACCTAGACATTCAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation