Incidental Mutation 'R6489:Prpsap2'
ID |
522662 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prpsap2
|
Ensembl Gene |
ENSMUSG00000020528 |
Gene Name |
phosphoribosyl pyrophosphate synthetase-associated protein 2 |
Synonyms |
A230054F23Rik |
MMRRC Submission |
044621-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6489 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
61620476-61652914 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 61639890 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 87
(M87K)
|
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: M87K
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000004955 Gene: ENSMUSG00000020528 AA Change: M87K
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: M87K
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000126274 Gene: ENSMUSG00000020528 AA Change: M87K
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 |
0.9745 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.3%
- 20x: 90.6%
|
Validation Efficiency |
100% (61/61) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadvl |
T |
C |
11: 69,901,145 (GRCm39) |
T650A |
probably benign |
Het |
Alkbh7 |
T |
A |
17: 57,305,979 (GRCm39) |
S127T |
probably damaging |
Het |
Ank3 |
G |
A |
10: 69,827,459 (GRCm39) |
A565T |
probably benign |
Het |
App |
G |
T |
16: 84,853,408 (GRCm39) |
D223E |
unknown |
Het |
Arhgef2 |
C |
A |
3: 88,550,321 (GRCm39) |
S675R |
probably damaging |
Het |
Atg14 |
T |
C |
14: 47,786,480 (GRCm39) |
D258G |
probably damaging |
Het |
Calhm5 |
A |
T |
10: 33,968,502 (GRCm39) |
W184R |
probably damaging |
Het |
Cbr1b |
A |
T |
16: 93,427,286 (GRCm39) |
|
probably null |
Het |
Ckap2l |
T |
C |
2: 129,111,034 (GRCm39) |
D721G |
possibly damaging |
Het |
Cog8 |
T |
C |
8: 107,776,933 (GRCm39) |
T481A |
probably benign |
Het |
Colec10 |
C |
A |
15: 54,325,609 (GRCm39) |
|
probably null |
Het |
Cplx3 |
A |
T |
9: 57,521,009 (GRCm39) |
|
probably null |
Het |
Dhx9 |
T |
C |
1: 153,332,389 (GRCm39) |
|
probably benign |
Het |
Dock1 |
T |
C |
7: 134,592,270 (GRCm39) |
M935T |
probably damaging |
Het |
Dsg4 |
T |
A |
18: 20,604,420 (GRCm39) |
N962K |
possibly damaging |
Het |
Dym |
T |
C |
18: 75,213,297 (GRCm39) |
V173A |
probably benign |
Het |
Exoc3l4 |
A |
G |
12: 111,395,131 (GRCm39) |
Y583C |
probably damaging |
Het |
Flnb |
G |
A |
14: 7,867,551 (GRCm38) |
V103M |
probably damaging |
Het |
Fzd1 |
T |
A |
5: 4,807,336 (GRCm39) |
Q82L |
probably benign |
Het |
Gabrr1 |
A |
G |
4: 33,162,855 (GRCm39) |
I474V |
probably benign |
Het |
Galnt11 |
G |
T |
5: 25,469,964 (GRCm39) |
W521L |
probably damaging |
Het |
Glb1l3 |
A |
G |
9: 26,738,127 (GRCm39) |
V420A |
probably benign |
Het |
H1f7 |
A |
T |
15: 98,154,888 (GRCm39) |
L87* |
probably null |
Het |
Homer2 |
T |
C |
7: 81,274,026 (GRCm39) |
T57A |
probably benign |
Het |
Ihh |
T |
A |
1: 74,985,670 (GRCm39) |
T272S |
probably damaging |
Het |
Il27ra |
T |
C |
8: 84,758,179 (GRCm39) |
M524V |
probably benign |
Het |
Mdp1 |
C |
A |
14: 55,897,848 (GRCm39) |
|
probably benign |
Het |
Med12l |
A |
G |
3: 59,164,828 (GRCm39) |
K1436R |
probably damaging |
Het |
Megf10 |
C |
T |
18: 57,424,879 (GRCm39) |
S1006F |
probably benign |
Het |
Miga1 |
A |
T |
3: 151,984,645 (GRCm39) |
I426N |
probably damaging |
Het |
Mtmr6 |
C |
T |
14: 60,537,963 (GRCm39) |
T654I |
possibly damaging |
Het |
Nbeal1 |
A |
G |
1: 60,370,101 (GRCm39) |
S2673G |
possibly damaging |
Het |
Nup93 |
T |
A |
8: 95,028,716 (GRCm39) |
H193Q |
probably benign |
Het |
Or1e25 |
T |
A |
11: 73,494,265 (GRCm39) |
N286K |
probably damaging |
Het |
Or4f7 |
A |
C |
2: 111,644,405 (GRCm39) |
L222W |
probably damaging |
Het |
Or52ae9 |
T |
C |
7: 103,389,875 (GRCm39) |
N191D |
probably benign |
Het |
Pdcd11 |
C |
T |
19: 47,098,191 (GRCm39) |
R826C |
probably damaging |
Het |
Pde4dip |
G |
A |
3: 97,662,907 (GRCm39) |
R521* |
probably null |
Het |
Phf2 |
T |
C |
13: 48,979,658 (GRCm39) |
S158G |
unknown |
Het |
Pla2g15 |
A |
G |
8: 106,889,826 (GRCm39) |
E366G |
probably benign |
Het |
Plekhm2 |
A |
T |
4: 141,359,344 (GRCm39) |
H494Q |
probably damaging |
Het |
Rbm19 |
T |
G |
5: 120,258,195 (GRCm39) |
S137A |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,848,893 (GRCm39) |
I363L |
probably benign |
Het |
Samd9l |
T |
C |
6: 3,376,896 (GRCm39) |
T122A |
probably benign |
Het |
Scn4a |
G |
C |
11: 106,240,006 (GRCm39) |
D70E |
probably benign |
Het |
Slc12a3 |
T |
A |
8: 95,061,632 (GRCm39) |
V293D |
possibly damaging |
Het |
Slc6a7 |
T |
C |
18: 61,140,615 (GRCm39) |
Y139C |
probably damaging |
Het |
Slco2b1 |
A |
T |
7: 99,339,762 (GRCm39) |
C9* |
probably null |
Het |
Slitrk1 |
A |
T |
14: 109,148,735 (GRCm39) |
S659T |
possibly damaging |
Het |
Son |
T |
G |
16: 91,452,044 (GRCm39) |
S264A |
possibly damaging |
Het |
Svep1 |
C |
A |
4: 58,100,066 (GRCm39) |
G1326V |
probably damaging |
Het |
Tcf12 |
A |
G |
9: 71,922,918 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
G |
2: 76,645,062 (GRCm39) |
V11185A |
probably damaging |
Het |
Ubap2 |
T |
C |
4: 41,203,574 (GRCm39) |
|
probably null |
Het |
Utp15 |
G |
T |
13: 98,387,117 (GRCm39) |
F434L |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vsnl1 |
T |
G |
12: 11,382,219 (GRCm39) |
|
probably benign |
Het |
Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
Zbtb34 |
A |
C |
2: 33,301,558 (GRCm39) |
S328A |
probably damaging |
Het |
Zdbf2 |
T |
C |
1: 63,346,637 (GRCm39) |
I1672T |
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 |
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'- GCACATCTTTCCACTGTATAAACTGTC -3'
(R):5'- CGGTTTGGAAGAAGACGAATTAGTC -3'
Sequencing Primer
(F):5'- GTGGCGCAAAACTTTAGCCTC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
Posted On |
2018-06-06 |