Incidental Mutation 'R0377:Prpsap2'
| ID |
65452 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpsap2
|
| Ensembl Gene |
ENSMUSG00000020528 |
| Gene Name |
phosphoribosyl pyrophosphate synthetase-associated protein 2 |
| Synonyms |
A230054F23Rik |
| MMRRC Submission |
038583-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0377 (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: 98.1%
- 10x: 95.7%
- 20x: 90.8%
|
| Validation Efficiency |
97% (67/69) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
C |
A |
11: 94,265,922 (GRCm39) |
V107F |
possibly damaging |
Het |
| Acad11 |
T |
A |
9: 103,958,891 (GRCm39) |
|
probably benign |
Het |
| Ache |
G |
A |
5: 137,289,190 (GRCm39) |
E299K |
possibly damaging |
Het |
| Adam5 |
T |
C |
8: 25,237,557 (GRCm39) |
T618A |
probably benign |
Het |
| Amigo2 |
T |
A |
15: 97,144,261 (GRCm39) |
T54S |
possibly damaging |
Het |
| Anapc1 |
A |
G |
2: 128,483,260 (GRCm39) |
|
probably null |
Het |
| Btaf1 |
A |
G |
19: 36,966,402 (GRCm39) |
K1057E |
probably benign |
Het |
| Cep55 |
T |
A |
19: 38,060,337 (GRCm39) |
L396* |
probably null |
Het |
| Cic |
C |
A |
7: 24,985,224 (GRCm39) |
H1157N |
probably damaging |
Het |
| Cntnap5a |
A |
T |
1: 116,220,259 (GRCm39) |
T690S |
probably benign |
Het |
| D5Ertd579e |
A |
T |
5: 36,761,911 (GRCm39) |
C1319S |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,098,975 (GRCm39) |
S2027P |
possibly damaging |
Het |
| Dnai4 |
A |
G |
4: 102,905,456 (GRCm39) |
V775A |
probably damaging |
Het |
| Dntt |
G |
A |
19: 41,036,066 (GRCm39) |
W369* |
probably null |
Het |
| Esp18 |
T |
A |
17: 39,720,835 (GRCm39) |
W27R |
probably benign |
Het |
| Fam227b |
A |
T |
2: 125,966,920 (GRCm39) |
|
probably benign |
Het |
| Fbxo31 |
G |
A |
8: 122,285,841 (GRCm39) |
|
probably benign |
Het |
| Gm13547 |
G |
A |
2: 29,651,803 (GRCm39) |
|
probably null |
Het |
| Gnl2 |
T |
A |
4: 124,940,175 (GRCm39) |
|
probably benign |
Het |
| Gpx2 |
G |
A |
12: 76,841,930 (GRCm39) |
Q74* |
probably null |
Het |
| Gucy2c |
A |
G |
6: 136,727,915 (GRCm39) |
|
probably null |
Het |
| Hoxa5 |
A |
T |
6: 52,179,626 (GRCm39) |
W250R |
probably damaging |
Het |
| Izumo4 |
G |
A |
10: 80,538,674 (GRCm39) |
R42H |
probably damaging |
Het |
| Kcnj12 |
G |
A |
11: 60,960,222 (GRCm39) |
M71I |
probably benign |
Het |
| Kmt2b |
A |
T |
7: 30,273,618 (GRCm39) |
L2333Q |
probably damaging |
Het |
| Mak |
T |
C |
13: 41,202,824 (GRCm39) |
E177G |
probably damaging |
Het |
| Map3k7 |
T |
A |
4: 31,985,731 (GRCm39) |
I218N |
probably damaging |
Het |
| Mark3 |
T |
C |
12: 111,595,463 (GRCm39) |
L393P |
probably damaging |
Het |
| Msh4 |
A |
G |
3: 153,602,527 (GRCm39) |
S234P |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,834,320 (GRCm39) |
D367G |
probably benign |
Het |
| Mypn |
A |
G |
10: 62,963,401 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
T |
C |
5: 45,851,159 (GRCm39) |
V784A |
probably benign |
Het |
| Nutf2 |
T |
A |
8: 106,605,504 (GRCm39) |
V113D |
probably damaging |
Het |
| Odad2 |
G |
A |
18: 7,127,415 (GRCm39) |
R933C |
probably benign |
Het |
| Opn3 |
T |
C |
1: 175,491,260 (GRCm39) |
M258V |
probably damaging |
Het |
| Or8k33 |
A |
T |
2: 86,383,927 (GRCm39) |
D180E |
probably damaging |
Het |
| Osbpl7 |
A |
G |
11: 96,946,760 (GRCm39) |
D211G |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 82,021,353 (GRCm39) |
|
probably benign |
Het |
| Plekhd1 |
G |
A |
12: 80,753,210 (GRCm39) |
|
probably benign |
Het |
| Pnpla6 |
A |
G |
8: 3,591,501 (GRCm39) |
E1165G |
probably damaging |
Het |
| Prkab2 |
T |
A |
3: 97,569,633 (GRCm39) |
D66E |
probably benign |
Het |
| Ptpn23 |
A |
T |
9: 110,217,200 (GRCm39) |
S885R |
possibly damaging |
Het |
| Rab26 |
A |
T |
17: 24,749,019 (GRCm39) |
|
probably benign |
Het |
| Rab5a |
G |
A |
17: 53,807,490 (GRCm39) |
M175I |
probably benign |
Het |
| Rassf9 |
T |
A |
10: 102,381,510 (GRCm39) |
D297E |
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,880,925 (GRCm39) |
R161Q |
probably damaging |
Het |
| Rtp1 |
A |
G |
16: 23,250,034 (GRCm39) |
Y133C |
probably damaging |
Het |
| Sdr16c5 |
G |
A |
4: 4,005,546 (GRCm39) |
L263F |
probably benign |
Het |
| Sec14l1 |
T |
G |
11: 117,039,966 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spaca1 |
T |
C |
4: 34,044,267 (GRCm39) |
|
probably null |
Het |
| Stk36 |
C |
T |
1: 74,651,889 (GRCm39) |
P394L |
probably benign |
Het |
| Stk4 |
T |
C |
2: 163,938,720 (GRCm39) |
I196T |
probably damaging |
Het |
| Sult1b1 |
A |
T |
5: 87,665,235 (GRCm39) |
M233K |
probably damaging |
Het |
| Tmem8b |
C |
T |
4: 43,674,005 (GRCm39) |
T212M |
probably damaging |
Het |
| Tmprss11g |
A |
T |
5: 86,638,610 (GRCm39) |
F293I |
probably damaging |
Het |
| Tnfsf11 |
T |
G |
14: 78,537,352 (GRCm39) |
T104P |
probably benign |
Het |
| Trmt2a |
G |
A |
16: 18,067,567 (GRCm39) |
R80Q |
possibly damaging |
Het |
| Trps1 |
C |
A |
15: 50,695,174 (GRCm39) |
E324* |
probably null |
Het |
| U2surp |
C |
T |
9: 95,366,496 (GRCm39) |
V470I |
probably benign |
Het |
| Wdr18 |
G |
A |
10: 79,803,336 (GRCm39) |
R400H |
probably benign |
Het |
| Zfp119b |
T |
A |
17: 56,245,671 (GRCm39) |
H505L |
probably damaging |
Het |
| Zfp619 |
T |
A |
7: 39,186,221 (GRCm39) |
C750* |
probably null |
Het |
| Zfr |
T |
C |
15: 12,160,677 (GRCm39) |
I750T |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2013-08-08 |
Incidental Mutation