Incidental Mutation 'R5514:Prr5'
ID |
440263 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prr5
|
Ensembl Gene |
ENSMUSG00000036106 |
Gene Name |
proline rich 5 (renal) |
Synonyms |
Protor-1, C030017C09Rik |
MMRRC Submission |
043074-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R5514 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
84553821-84587874 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 84587096 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 282
(P282Q)
|
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: P291Q
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000066396 Gene: ENSMUSG00000036106 AA Change: P291Q
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: P282Q
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000127890 Gene: ENSMUSG00000036106 AA Change: P282Q
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam17 |
T |
C |
12: 21,390,520 (GRCm39) |
S382G |
probably damaging |
Het |
Agr2 |
G |
A |
12: 36,046,090 (GRCm39) |
V74I |
probably benign |
Het |
Aldh3a1 |
T |
C |
11: 61,108,867 (GRCm39) |
S423P |
probably damaging |
Het |
Ampd1 |
C |
T |
3: 102,986,488 (GRCm39) |
H56Y |
possibly damaging |
Het |
Arhgef2 |
C |
A |
3: 88,550,304 (GRCm39) |
P670T |
probably benign |
Het |
Blk |
T |
G |
14: 63,615,930 (GRCm39) |
D333A |
probably damaging |
Het |
Bmi1 |
T |
C |
2: 18,686,714 (GRCm39) |
I31T |
probably damaging |
Het |
Cacna1d |
G |
A |
14: 30,072,790 (GRCm39) |
Q62* |
probably null |
Het |
Ccdc88c |
A |
G |
12: 100,879,698 (GRCm39) |
S1801P |
probably damaging |
Het |
Cdkal1 |
C |
T |
13: 29,961,270 (GRCm39) |
A100T |
probably damaging |
Het |
Cfap251 |
G |
T |
5: 123,425,829 (GRCm39) |
|
probably null |
Het |
Chst4 |
G |
T |
8: 110,756,606 (GRCm39) |
S419Y |
probably damaging |
Het |
Cntn4 |
T |
C |
6: 106,649,844 (GRCm39) |
I680T |
probably damaging |
Het |
Ddx55 |
T |
C |
5: 124,694,875 (GRCm39) |
V101A |
probably damaging |
Het |
Ddx60 |
A |
T |
8: 62,411,091 (GRCm39) |
E451V |
probably damaging |
Het |
Dffa |
T |
A |
4: 149,190,772 (GRCm39) |
|
probably null |
Het |
Dgkd |
A |
G |
1: 87,861,832 (GRCm39) |
R796G |
probably damaging |
Het |
Dzank1 |
T |
A |
2: 144,323,605 (GRCm39) |
M614L |
probably benign |
Het |
Elf2 |
G |
T |
3: 51,215,555 (GRCm39) |
Q52K |
probably damaging |
Het |
Fcamr |
T |
A |
1: 130,741,793 (GRCm39) |
L522Q |
probably damaging |
Het |
Fscn2 |
T |
C |
11: 120,258,858 (GRCm39) |
Y468H |
probably damaging |
Het |
Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
Gm4787 |
A |
G |
12: 81,425,102 (GRCm39) |
V352A |
possibly damaging |
Het |
Gtsf1 |
T |
C |
15: 103,336,802 (GRCm39) |
Q13R |
probably benign |
Het |
Itpkb |
G |
A |
1: 180,241,474 (GRCm39) |
V715M |
probably damaging |
Het |
Jmjd1c |
T |
A |
10: 67,053,928 (GRCm39) |
S263T |
probably damaging |
Het |
Krba1 |
T |
G |
6: 48,390,429 (GRCm39) |
L736R |
probably damaging |
Het |
Lrrc8d |
C |
G |
5: 105,960,650 (GRCm39) |
F353L |
probably damaging |
Het |
Lrrc8d |
G |
A |
5: 105,960,651 (GRCm39) |
E354K |
probably benign |
Het |
Mtor |
T |
A |
4: 148,630,901 (GRCm39) |
V2286E |
probably damaging |
Het |
Mybbp1a |
T |
A |
11: 72,341,462 (GRCm39) |
V1100E |
possibly damaging |
Het |
Myo5a |
G |
A |
9: 75,061,048 (GRCm39) |
G518D |
probably damaging |
Het |
Nalcn |
A |
T |
14: 123,521,123 (GRCm39) |
I1594N |
probably benign |
Het |
Nav1 |
C |
G |
1: 135,398,299 (GRCm39) |
G761A |
probably benign |
Het |
Ncoa2 |
A |
T |
1: 13,251,445 (GRCm39) |
L276H |
probably damaging |
Het |
Ndufaf7 |
T |
C |
17: 79,245,051 (GRCm39) |
Y57H |
probably damaging |
Het |
Nfkb2 |
A |
G |
19: 46,299,847 (GRCm39) |
Y807C |
probably damaging |
Het |
Nid2 |
A |
T |
14: 19,852,535 (GRCm39) |
Q1081L |
probably damaging |
Het |
Nkain2 |
T |
A |
10: 31,827,189 (GRCm39) |
I134F |
probably damaging |
Het |
Nmu |
A |
C |
5: 76,497,979 (GRCm39) |
S69A |
probably damaging |
Het |
Or4c15b |
A |
T |
2: 89,112,817 (GRCm39) |
I220N |
probably damaging |
Het |
Or5t7 |
T |
C |
2: 86,507,225 (GRCm39) |
I151V |
probably benign |
Het |
Pard3 |
A |
G |
8: 128,153,086 (GRCm39) |
R886G |
probably damaging |
Het |
Pde6b |
G |
T |
5: 108,571,317 (GRCm39) |
Q423H |
probably benign |
Het |
Pip5k1b |
A |
T |
19: 24,327,505 (GRCm39) |
D450E |
probably damaging |
Het |
Plcg1 |
T |
C |
2: 160,595,275 (GRCm39) |
|
probably null |
Het |
Pnpt1 |
T |
C |
11: 29,103,246 (GRCm39) |
S504P |
possibly damaging |
Het |
Pomt2 |
A |
T |
12: 87,175,797 (GRCm39) |
D312E |
probably damaging |
Het |
Ppp1r1b |
T |
C |
11: 98,246,228 (GRCm39) |
L70P |
probably damaging |
Het |
Reln |
A |
T |
5: 22,176,883 (GRCm39) |
W1928R |
possibly damaging |
Het |
Sacm1l |
A |
T |
9: 123,415,419 (GRCm39) |
R465* |
probably null |
Het |
Sema7a |
A |
G |
9: 57,863,046 (GRCm39) |
Y239C |
probably damaging |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Svep1 |
T |
C |
4: 58,044,054 (GRCm39) |
T3531A |
possibly damaging |
Het |
Tjp1 |
A |
T |
7: 65,004,609 (GRCm39) |
W19R |
probably damaging |
Het |
Tmc2 |
T |
A |
2: 130,083,564 (GRCm39) |
M507K |
possibly damaging |
Het |
Unc13a |
A |
G |
8: 72,095,795 (GRCm39) |
Y1241H |
probably damaging |
Het |
Upp1 |
C |
T |
11: 9,081,771 (GRCm39) |
P103S |
probably damaging |
Het |
Vldlr |
A |
G |
19: 27,221,624 (GRCm39) |
E663G |
probably damaging |
Het |
Vmn2r68 |
G |
A |
7: 84,886,767 (GRCm39) |
T49I |
possibly damaging |
Het |
Xirp2 |
A |
T |
2: 67,335,465 (GRCm39) |
M95L |
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 |
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'- GCACCCACCATCTTAGTGTATG -3'
(R):5'- GGATCTGGTCCACAAGAGTC -3'
Sequencing Primer
(F):5'- TCTGTTCCTGCAGAGAAACG -3'
(R):5'- ATCTGGTCCACAAGAGTCTCTGG -3'
|
Posted On |
2016-11-08 |