Incidental Mutation 'R2232:Prr5'
ID |
240130 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prr5
|
Ensembl Gene |
ENSMUSG00000036106 |
Gene Name |
proline rich 5 (renal) |
Synonyms |
Protor-1, C030017C09Rik |
MMRRC Submission |
040233-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R2232 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
84553821-84587874 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84586981 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 244
(S244P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127890
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065499]
[ENSMUST00000171460]
|
AlphaFold |
Q812A5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065499
AA Change: S253P
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000066396 Gene: ENSMUSG00000036106 AA Change: S253P
Domain | Start | End | E-Value | Type |
Pfam:HbrB
|
38 |
144 |
6.9e-17 |
PFAM |
low complexity region
|
333 |
344 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171460
AA Change: S244P
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000127890 Gene: ENSMUSG00000036106 AA Change: S244P
Domain | Start | End | E-Value | Type |
Pfam:HbrB
|
27 |
159 |
1.3e-36 |
PFAM |
low complexity region
|
324 |
335 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1630 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
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 with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1a |
A |
C |
5: 121,657,795 (GRCm39) |
D499E |
possibly damaging |
Het |
Adamtsl2 |
G |
A |
2: 26,993,190 (GRCm39) |
G740E |
probably damaging |
Het |
Adgrf4 |
C |
T |
17: 42,977,789 (GRCm39) |
R518Q |
possibly damaging |
Het |
Akap9 |
G |
A |
5: 4,096,603 (GRCm39) |
V2493I |
probably damaging |
Het |
Ankra2 |
T |
C |
13: 98,407,646 (GRCm39) |
F199L |
probably damaging |
Het |
Ankrd63 |
A |
G |
2: 118,533,846 (GRCm39) |
|
probably benign |
Het |
Asns |
A |
G |
6: 7,689,316 (GRCm39) |
I62T |
possibly damaging |
Het |
Celf3 |
T |
A |
3: 94,387,566 (GRCm39) |
|
probably null |
Het |
Cyp4f37 |
A |
G |
17: 32,853,244 (GRCm39) |
T403A |
probably benign |
Het |
Dennd2b |
T |
C |
7: 109,156,414 (GRCm39) |
D112G |
probably benign |
Het |
Dgkd |
T |
A |
1: 87,857,464 (GRCm39) |
S725R |
probably benign |
Het |
Dnah5 |
G |
A |
15: 28,408,563 (GRCm39) |
|
probably null |
Het |
Entrep2 |
G |
A |
7: 64,408,970 (GRCm39) |
H475Y |
probably damaging |
Het |
Ergic3 |
A |
G |
2: 155,859,736 (GRCm39) |
T346A |
probably damaging |
Het |
Fam227a |
T |
A |
15: 79,499,582 (GRCm39) |
Y591F |
possibly damaging |
Het |
Gal3st1 |
T |
C |
11: 3,948,282 (GRCm39) |
I163T |
probably benign |
Het |
Ghrhr |
T |
C |
6: 55,362,444 (GRCm39) |
F347S |
probably damaging |
Het |
Htr2a |
A |
T |
14: 74,882,469 (GRCm39) |
I152F |
probably damaging |
Het |
Il17re |
T |
C |
6: 113,441,761 (GRCm39) |
C219R |
probably damaging |
Het |
Kansl2 |
A |
G |
15: 98,422,359 (GRCm39) |
L403S |
probably damaging |
Het |
Kif21a |
G |
A |
15: 90,869,565 (GRCm39) |
Q429* |
probably null |
Het |
L1cam |
T |
A |
X: 72,904,947 (GRCm39) |
N503I |
possibly damaging |
Het |
Lrrk2 |
A |
G |
15: 91,648,919 (GRCm39) |
K1638E |
probably benign |
Het |
Mcpt9 |
A |
T |
14: 56,265,445 (GRCm39) |
C85S |
probably benign |
Het |
Mindy3 |
C |
A |
2: 12,408,856 (GRCm39) |
R73M |
probably benign |
Het |
Mrgprb3 |
T |
C |
7: 48,292,770 (GRCm39) |
I260M |
probably benign |
Het |
Nes |
T |
A |
3: 87,886,238 (GRCm39) |
I1499N |
possibly damaging |
Het |
Ninl |
A |
G |
2: 150,791,970 (GRCm39) |
V851A |
probably benign |
Het |
Oaz3 |
T |
C |
3: 94,341,846 (GRCm39) |
T130A |
probably benign |
Het |
Or10j7 |
A |
G |
1: 173,011,182 (GRCm39) |
I273T |
probably benign |
Het |
Or4c3d |
A |
T |
2: 89,882,569 (GRCm39) |
F33Y |
probably benign |
Het |
Pacs2 |
G |
A |
12: 113,026,987 (GRCm39) |
D605N |
probably damaging |
Het |
Pcare |
A |
G |
17: 72,056,279 (GRCm39) |
S1133P |
probably benign |
Het |
Pdk3 |
G |
T |
X: 92,857,604 (GRCm39) |
N59K |
probably damaging |
Het |
Pigq |
T |
C |
17: 26,151,183 (GRCm39) |
H322R |
probably benign |
Het |
Ppp3r1 |
G |
A |
11: 17,143,115 (GRCm39) |
G68R |
probably damaging |
Het |
Proz |
A |
G |
8: 13,113,356 (GRCm39) |
Y59C |
probably damaging |
Het |
Prpf39 |
C |
T |
12: 65,090,786 (GRCm39) |
R32* |
probably null |
Het |
Pth2r |
G |
T |
1: 65,375,928 (GRCm39) |
W62L |
probably damaging |
Het |
Scin |
T |
A |
12: 40,118,930 (GRCm39) |
K622I |
probably damaging |
Het |
Serpinb6a |
T |
C |
13: 34,109,303 (GRCm39) |
K143R |
probably damaging |
Het |
Ska1 |
G |
T |
18: 74,330,137 (GRCm39) |
|
probably null |
Het |
Slc30a8 |
G |
T |
15: 52,169,960 (GRCm39) |
R62S |
probably benign |
Het |
Slc8a3 |
A |
C |
12: 81,361,994 (GRCm39) |
I275S |
probably damaging |
Het |
Sp2 |
C |
T |
11: 96,846,762 (GRCm39) |
C527Y |
probably damaging |
Het |
Spmap2l |
A |
G |
5: 77,207,252 (GRCm39) |
I337V |
possibly damaging |
Het |
Sspo |
A |
G |
6: 48,425,606 (GRCm39) |
I76V |
probably damaging |
Het |
Sult1c2 |
G |
T |
17: 54,138,848 (GRCm39) |
T243K |
probably benign |
Het |
Svil |
T |
A |
18: 5,046,640 (GRCm39) |
M1K |
probably null |
Het |
Tet3 |
T |
C |
6: 83,346,453 (GRCm39) |
D1328G |
probably damaging |
Het |
Tnfsf14 |
T |
C |
17: 57,500,876 (GRCm39) |
D65G |
probably benign |
Het |
Trmt9b |
T |
A |
8: 36,979,707 (GRCm39) |
C437S |
probably damaging |
Het |
Ttc3 |
T |
C |
16: 94,260,831 (GRCm39) |
S1439P |
probably benign |
Het |
Ttn |
A |
T |
2: 76,774,497 (GRCm39) |
F2136L |
probably damaging |
Het |
Usb1 |
T |
G |
8: 96,070,674 (GRCm39) |
L200R |
probably damaging |
Het |
Usp20 |
A |
G |
2: 30,908,750 (GRCm39) |
N777S |
probably benign |
Het |
Zfp92 |
G |
T |
X: 72,466,358 (GRCm39) |
L450F |
possibly damaging |
Het |
|
Other mutations in Prr5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01023:Prr5
|
APN |
15 |
84,583,856 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL01790:Prr5
|
APN |
15 |
84,651,415 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL01950:Prr5
|
APN |
15 |
84,650,550 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02156:Prr5
|
APN |
15 |
84,654,236 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02656:Prr5
|
APN |
15 |
84,583,337 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03102:Prr5
|
APN |
15 |
84,650,508 (GRCm39) |
splice site |
probably benign |
|
R0234:Prr5
|
UTSW |
15 |
84,587,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R0234:Prr5
|
UTSW |
15 |
84,587,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R0389:Prr5
|
UTSW |
15 |
84,587,152 (GRCm39) |
missense |
probably benign |
0.00 |
R0514:Prr5
|
UTSW |
15 |
84,586,967 (GRCm39) |
missense |
probably benign |
0.19 |
R1414:Prr5
|
UTSW |
15 |
84,583,912 (GRCm39) |
nonsense |
probably null |
|
R2027:Prr5
|
UTSW |
15 |
84,585,580 (GRCm39) |
missense |
probably damaging |
0.99 |
R2230:Prr5
|
UTSW |
15 |
84,586,981 (GRCm39) |
missense |
probably benign |
0.15 |
R2231:Prr5
|
UTSW |
15 |
84,586,981 (GRCm39) |
missense |
probably benign |
0.15 |
R3003:Prr5
|
UTSW |
15 |
84,656,031 (GRCm39) |
missense |
probably damaging |
0.99 |
R3498:Prr5
|
UTSW |
15 |
84,587,345 (GRCm39) |
missense |
probably benign |
0.12 |
R3791:Prr5
|
UTSW |
15 |
84,565,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R3910:Prr5
|
UTSW |
15 |
84,587,345 (GRCm39) |
missense |
probably benign |
0.12 |
R4562:Prr5
|
UTSW |
15 |
84,626,114 (GRCm39) |
missense |
probably damaging |
0.99 |
R4866:Prr5
|
UTSW |
15 |
84,626,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R4867:Prr5
|
UTSW |
15 |
84,624,967 (GRCm39) |
missense |
probably benign |
0.17 |
R5514:Prr5
|
UTSW |
15 |
84,587,096 (GRCm39) |
missense |
probably benign |
0.01 |
R5620:Prr5
|
UTSW |
15 |
84,640,570 (GRCm39) |
missense |
probably benign |
0.09 |
R5793:Prr5
|
UTSW |
15 |
84,656,223 (GRCm39) |
missense |
probably benign |
|
R5905:Prr5
|
UTSW |
15 |
84,626,178 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5911:Prr5
|
UTSW |
15 |
84,585,635 (GRCm39) |
nonsense |
probably null |
|
R6033:Prr5
|
UTSW |
15 |
84,626,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R6033:Prr5
|
UTSW |
15 |
84,626,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R6085:Prr5
|
UTSW |
15 |
84,572,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R6187:Prr5
|
UTSW |
15 |
84,577,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R6394:Prr5
|
UTSW |
15 |
84,583,925 (GRCm39) |
missense |
probably damaging |
0.99 |
R6422:Prr5
|
UTSW |
15 |
84,578,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R6631:Prr5
|
UTSW |
15 |
84,586,978 (GRCm39) |
missense |
probably damaging |
0.99 |
R7212:Prr5
|
UTSW |
15 |
84,629,993 (GRCm39) |
missense |
probably null |
0.99 |
R7548:Prr5
|
UTSW |
15 |
84,641,259 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7614:Prr5
|
UTSW |
15 |
84,641,276 (GRCm39) |
missense |
probably benign |
0.44 |
R7822:Prr5
|
UTSW |
15 |
84,649,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R8113:Prr5
|
UTSW |
15 |
84,577,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R8268:Prr5
|
UTSW |
15 |
84,587,192 (GRCm39) |
missense |
probably benign |
0.02 |
R8328:Prr5
|
UTSW |
15 |
84,587,387 (GRCm39) |
makesense |
probably null |
|
R8488:Prr5
|
UTSW |
15 |
84,578,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R8874:Prr5
|
UTSW |
15 |
84,583,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R9058:Prr5
|
UTSW |
15 |
84,641,241 (GRCm39) |
missense |
probably benign |
0.00 |
R9317:Prr5
|
UTSW |
15 |
84,583,324 (GRCm39) |
nonsense |
probably null |
|
R9456:Prr5
|
UTSW |
15 |
84,585,682 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCTTTTATTGGGTGTCCC -3'
(R):5'- ATCTGGTCCACAAGAGTCTCTG -3'
Sequencing Primer
(F):5'- CCCTTTTGTGGATTAGATGCTTGACC -3'
(R):5'- TCCACAAGAGTCTCTGGGCTG -3'
|
Posted On |
2014-10-15 |