Incidental Mutation 'R0733:Prpsap2'
| ID |
67121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpsap2
|
| Ensembl Gene |
ENSMUSG00000020528 |
| Gene Name |
phosphoribosyl pyrophosphate synthetase-associated protein 2 |
| Synonyms |
A230054F23Rik |
| MMRRC Submission |
038914-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0733 (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: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
98% (60/61) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
A |
G |
2: 31,668,957 (GRCm39) |
Y88C |
probably damaging |
Het |
| Acbd3 |
A |
G |
1: 180,579,783 (GRCm39) |
I476V |
possibly damaging |
Het |
| Apba2 |
T |
C |
7: 64,399,912 (GRCm39) |
I689T |
probably damaging |
Het |
| AU018091 |
A |
G |
7: 3,209,001 (GRCm39) |
Y362H |
probably damaging |
Het |
| Castor2 |
T |
C |
5: 134,165,054 (GRCm39) |
F208L |
possibly damaging |
Het |
| Cdh26 |
T |
C |
2: 178,128,724 (GRCm39) |
S759P |
probably damaging |
Het |
| Clcc1 |
A |
G |
3: 108,582,056 (GRCm39) |
Q387R |
probably benign |
Het |
| Cobl |
C |
T |
11: 12,315,167 (GRCm39) |
G259R |
probably benign |
Het |
| Col4a1 |
C |
T |
8: 11,268,934 (GRCm39) |
R968Q |
possibly damaging |
Het |
| Ddr2 |
A |
G |
1: 169,832,381 (GRCm39) |
|
probably benign |
Het |
| Dera |
C |
A |
6: 137,773,846 (GRCm39) |
N201K |
probably damaging |
Het |
| Dsg1a |
A |
C |
18: 20,471,725 (GRCm39) |
E659A |
probably damaging |
Het |
| Dus2 |
G |
T |
8: 106,772,702 (GRCm39) |
|
probably null |
Het |
| Ears2 |
T |
A |
7: 121,647,352 (GRCm39) |
I311F |
possibly damaging |
Het |
| Eml4 |
T |
A |
17: 83,761,893 (GRCm39) |
M417K |
possibly damaging |
Het |
| Exosc4 |
A |
T |
15: 76,213,616 (GRCm39) |
M147L |
probably benign |
Het |
| Fam171a2 |
T |
A |
11: 102,330,548 (GRCm39) |
Y278F |
possibly damaging |
Het |
| Fastk |
A |
C |
5: 24,648,921 (GRCm39) |
H155Q |
probably null |
Het |
| Fem1b |
G |
T |
9: 62,704,125 (GRCm39) |
N378K |
possibly damaging |
Het |
| Fut11 |
C |
A |
14: 20,745,427 (GRCm39) |
Y119* |
probably null |
Het |
| Gm6797 |
T |
C |
X: 8,511,388 (GRCm39) |
|
noncoding transcript |
Het |
| Gstt4 |
T |
C |
10: 75,653,148 (GRCm39) |
D138G |
probably benign |
Het |
| Hprt1 |
G |
A |
X: 52,091,027 (GRCm39) |
C66Y |
probably damaging |
Het |
| Inpp5d |
T |
A |
1: 87,595,799 (GRCm39) |
|
probably benign |
Het |
| Ints6l |
T |
A |
X: 55,547,108 (GRCm39) |
S621T |
probably benign |
Het |
| Ints6l |
C |
G |
X: 55,550,172 (GRCm39) |
A699G |
probably benign |
Het |
| Kctd3 |
A |
G |
1: 188,729,247 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
G |
T |
5: 123,928,979 (GRCm39) |
V1252L |
probably null |
Het |
| Lama5 |
A |
T |
2: 179,822,511 (GRCm39) |
M2854K |
possibly damaging |
Het |
| Lcn5 |
G |
T |
2: 25,551,113 (GRCm39) |
L187F |
probably damaging |
Het |
| Lrp3 |
A |
T |
7: 34,901,545 (GRCm39) |
L758M |
possibly damaging |
Het |
| Ltn1 |
T |
A |
16: 87,209,395 (GRCm39) |
I740F |
probably benign |
Het |
| Mcm5 |
A |
G |
8: 75,853,876 (GRCm39) |
K710R |
probably benign |
Het |
| Mllt10 |
A |
G |
2: 18,208,577 (GRCm39) |
|
probably benign |
Het |
| Nbr1 |
T |
A |
11: 101,467,197 (GRCm39) |
M864K |
probably benign |
Het |
| Nkiras2 |
T |
C |
11: 100,515,758 (GRCm39) |
|
probably null |
Het |
| Nlrp4d |
T |
A |
7: 10,116,449 (GRCm39) |
E144V |
probably benign |
Het |
| Nppc |
T |
C |
1: 86,597,356 (GRCm39) |
|
probably benign |
Het |
| Ormdl2 |
T |
A |
10: 128,655,868 (GRCm39) |
Q94L |
probably damaging |
Het |
| Paox |
G |
C |
7: 139,707,440 (GRCm39) |
D88H |
probably damaging |
Het |
| Prl7a2 |
T |
C |
13: 27,846,671 (GRCm39) |
E114G |
probably damaging |
Het |
| Prss54 |
T |
C |
8: 96,286,368 (GRCm39) |
D235G |
possibly damaging |
Het |
| Rwdd3 |
T |
C |
3: 120,965,256 (GRCm39) |
M24V |
probably benign |
Het |
| Serpinb6e |
T |
A |
13: 34,025,201 (GRCm39) |
N30I |
probably benign |
Het |
| Sh3rf1 |
G |
A |
8: 61,825,594 (GRCm39) |
A530T |
probably benign |
Het |
| Slc28a1 |
T |
C |
7: 80,774,648 (GRCm39) |
I165T |
probably benign |
Het |
| Slco6d1 |
T |
A |
1: 98,355,994 (GRCm39) |
L143* |
probably null |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Snx27 |
A |
G |
3: 94,469,320 (GRCm39) |
L7P |
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,722,013 (GRCm39) |
T1056S |
possibly damaging |
Het |
| Spsb1 |
C |
T |
4: 149,991,374 (GRCm39) |
V65I |
probably benign |
Het |
| St8sia2 |
C |
T |
7: 73,610,588 (GRCm39) |
G232S |
probably benign |
Het |
| Sun1 |
A |
G |
5: 139,216,918 (GRCm39) |
H255R |
possibly damaging |
Het |
| Tent2 |
T |
A |
13: 93,291,547 (GRCm39) |
Q365L |
probably benign |
Het |
| Ube2k |
A |
G |
5: 65,738,795 (GRCm39) |
I95V |
probably damaging |
Het |
| Ube2m |
C |
A |
7: 12,769,679 (GRCm39) |
E126D |
probably damaging |
Het |
| Vmn2r27 |
A |
T |
6: 124,169,147 (GRCm39) |
M661K |
probably benign |
Het |
| Wdr47 |
A |
T |
3: 108,525,939 (GRCm39) |
D154V |
probably damaging |
Het |
| Zfp113 |
A |
G |
5: 138,143,845 (GRCm39) |
V135A |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- CTGGCATTGGAGAAACTGAGATTGGA -3'
(R):5'- AGGCATACACATCACACCTGGTTTG -3'
Sequencing Primer
(F):5'- CTGAGATTGGAGAAAAATGAACAAAC -3'
(R):5'- cataccagaagagggcatcag -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation