Incidental Mutation 'R6085:Prr5'
ID |
482447 |
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: 0.106)
|
Stock # |
R6085 (G1)
|
Quality Score |
174.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
84553821-84587874 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 84572106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 38
(I38N)
|
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: I47N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000066396 Gene: ENSMUSG00000036106 AA Change: I47N
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: I38N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127890 Gene: ENSMUSG00000036106 AA Change: I38N
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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Boc |
G |
T |
16: 44,308,970 (GRCm39) |
D847E |
probably damaging |
Het |
Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
Cdk12 |
T |
C |
11: 98,134,255 (GRCm39) |
I1051T |
unknown |
Het |
Ciita |
A |
G |
16: 10,330,029 (GRCm39) |
E771G |
probably benign |
Het |
Cul2 |
T |
C |
18: 3,431,508 (GRCm39) |
F638L |
probably benign |
Het |
Ddx21 |
A |
G |
10: 62,429,866 (GRCm39) |
Y293H |
probably damaging |
Het |
Dhx8 |
C |
T |
11: 101,655,139 (GRCm39) |
R1050W |
probably damaging |
Het |
Etv1 |
G |
A |
12: 38,904,194 (GRCm39) |
D285N |
probably damaging |
Het |
Hs3st3a1 |
G |
A |
11: 64,327,004 (GRCm39) |
V38I |
possibly damaging |
Het |
Ifit1bl2 |
A |
C |
19: 34,597,217 (GRCm39) |
F133C |
possibly damaging |
Het |
Lama3 |
C |
T |
18: 12,615,156 (GRCm39) |
T1360I |
probably benign |
Het |
Mgrn1 |
A |
G |
16: 4,738,240 (GRCm39) |
T265A |
probably benign |
Het |
Nup155 |
T |
C |
15: 8,177,842 (GRCm39) |
V1075A |
probably damaging |
Het |
Or1ad6 |
A |
G |
11: 50,859,950 (GRCm39) |
Y35C |
|
Het |
Pld4 |
A |
G |
12: 112,733,320 (GRCm39) |
T299A |
probably benign |
Het |
Slc25a47 |
A |
G |
12: 108,820,254 (GRCm39) |
Y86C |
probably benign |
Het |
Spata31e5 |
T |
C |
1: 28,817,308 (GRCm39) |
I241M |
possibly damaging |
Het |
Synrg |
A |
T |
11: 83,930,487 (GRCm39) |
E1276D |
possibly damaging |
Het |
Taar7e |
T |
C |
10: 23,913,761 (GRCm39) |
F84L |
probably benign |
Het |
Tssk1 |
G |
A |
16: 17,712,848 (GRCm39) |
C211Y |
possibly damaging |
Het |
Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
Xpo7 |
A |
T |
14: 70,934,051 (GRCm39) |
S236T |
probably benign |
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 |
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 |
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'- TGGACTACAGGATCTGCAGTG -3'
(R):5'- ACTGTCCAAGTTGCACCCTG -3'
Sequencing Primer
(F):5'- GTGAGCCAGAGTATGTGTCAC -3'
(R):5'- AAGTTGCACCCTGCTGAC -3'
|
Posted On |
2017-07-14 |