Incidental Mutation 'R3791:Prr5'
ID |
272557 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prr5
|
Ensembl Gene |
ENSMUSG00000036106 |
Gene Name |
proline rich 5 (renal) |
Synonyms |
Protor-1, C030017C09Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
R3791 (G1)
|
Quality Score |
168 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
84553821-84587874 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84565417 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 3
(S3P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127890
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065499]
[ENSMUST00000171460]
|
AlphaFold |
Q812A5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065499
AA Change: S12P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000066396 Gene: ENSMUSG00000036106 AA Change: S12P
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 damaging
Transcript: ENSMUST00000171460
AA Change: S3P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127890 Gene: ENSMUSG00000036106 AA Change: S3P
Domain | Start | End | E-Value | Type |
Pfam:HbrB
|
27 |
159 |
1.3e-36 |
PFAM |
low complexity region
|
324 |
335 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630073D07Rik |
AGGTGGTGGTGGTGGTGGTGGTGG |
AGGTGGTGGTGGTGGTGGTGG |
6: 132,603,479 (GRCm39) |
|
probably benign |
Het |
A930009A15Rik |
A |
T |
10: 115,414,194 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,741,221 (GRCm39) |
Y81C |
probably damaging |
Het |
Alx3 |
A |
T |
3: 107,508,022 (GRCm39) |
Y177F |
probably damaging |
Het |
C6 |
A |
G |
15: 4,764,717 (GRCm39) |
T138A |
probably benign |
Het |
Cacna2d3 |
T |
C |
14: 28,905,538 (GRCm39) |
M410V |
probably benign |
Het |
Ccn4 |
A |
G |
15: 66,791,137 (GRCm39) |
Y313C |
probably damaging |
Het |
Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
Cnrip1 |
C |
T |
11: 17,004,845 (GRCm39) |
|
probably benign |
Het |
Col6a5 |
A |
C |
9: 105,741,868 (GRCm39) |
D2350E |
probably damaging |
Het |
Cyp4a12b |
A |
G |
4: 115,292,167 (GRCm39) |
I407V |
probably benign |
Het |
Gpx4 |
A |
G |
10: 79,892,023 (GRCm39) |
I245V |
probably benign |
Het |
H2-K2 |
A |
G |
17: 34,218,499 (GRCm39) |
I139T |
probably benign |
Het |
Hmgcl |
A |
G |
4: 135,687,298 (GRCm39) |
K191R |
probably benign |
Het |
Hpdl |
A |
G |
4: 116,677,729 (GRCm39) |
V244A |
possibly damaging |
Het |
Hpse |
A |
G |
5: 100,840,104 (GRCm39) |
S338P |
probably damaging |
Het |
Ifi203 |
T |
C |
1: 173,762,646 (GRCm39) |
K162R |
possibly damaging |
Het |
Kit |
A |
G |
5: 75,799,810 (GRCm39) |
N514S |
probably damaging |
Het |
Kmt2d |
G |
A |
15: 98,742,030 (GRCm39) |
|
probably benign |
Het |
Limd1 |
T |
A |
9: 123,309,439 (GRCm39) |
S379R |
possibly damaging |
Het |
Llph |
A |
G |
10: 120,064,060 (GRCm39) |
K59E |
probably benign |
Het |
Lrrc7 |
T |
A |
3: 157,869,593 (GRCm39) |
M709L |
probably benign |
Het |
Muc5ac |
A |
G |
7: 141,352,238 (GRCm39) |
S665G |
probably benign |
Het |
Ncapd3 |
C |
T |
9: 26,963,931 (GRCm39) |
H524Y |
probably benign |
Het |
Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
Or51s1 |
T |
C |
7: 102,558,239 (GRCm39) |
D269G |
probably benign |
Het |
Phtf2 |
T |
C |
5: 20,987,296 (GRCm39) |
E400G |
probably damaging |
Het |
Pkd1l3 |
T |
C |
8: 110,362,949 (GRCm39) |
V1080A |
probably damaging |
Het |
Plch1 |
A |
T |
3: 63,606,944 (GRCm39) |
H1007Q |
probably benign |
Het |
Qtrt1 |
G |
A |
9: 21,330,636 (GRCm39) |
D279N |
probably damaging |
Het |
Rundc1 |
G |
A |
11: 101,325,027 (GRCm39) |
A578T |
probably damaging |
Het |
Shc4 |
A |
T |
2: 125,565,251 (GRCm39) |
V16E |
probably damaging |
Het |
Sik3 |
A |
T |
9: 46,106,120 (GRCm39) |
L329F |
possibly damaging |
Het |
Slc36a3 |
A |
G |
11: 55,015,982 (GRCm39) |
S391P |
possibly damaging |
Het |
Smad1 |
C |
A |
8: 80,066,399 (GRCm39) |
R426L |
probably damaging |
Het |
Tent4b |
G |
A |
8: 88,969,957 (GRCm39) |
E210K |
probably damaging |
Het |
Thrap3 |
A |
T |
4: 126,061,293 (GRCm39) |
N820K |
possibly damaging |
Het |
Tnrc6b |
T |
C |
15: 80,807,841 (GRCm39) |
S1598P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,545,168 (GRCm39) |
I32645V |
probably damaging |
Het |
Zfp266 |
A |
C |
9: 20,410,777 (GRCm39) |
Y467D |
probably damaging |
Het |
Zfp526 |
T |
A |
7: 24,925,628 (GRCm39) |
M629K |
probably damaging |
Het |
Zfp788 |
A |
T |
7: 41,299,152 (GRCm39) |
H596L |
probably damaging |
Het |
Zhx3 |
A |
G |
2: 160,622,368 (GRCm39) |
W600R |
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 |
R2232: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 |
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'- TTGAACTGCTCTGTGGCTC -3'
(R):5'- GACACGTTGCACTCACTTCC -3'
Sequencing Primer
(F):5'- AAAGGAGCCAGCCCCTTGAG -3'
(R):5'- GCACTCACTTCCCTCCCCG -3'
|
Posted On |
2015-03-25 |