Incidental Mutation 'R8488:Prr5'
| ID |
657862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr5
|
| Ensembl Gene |
ENSMUSG00000036106 |
| Gene Name |
proline rich 5 (renal) |
| Synonyms |
Protor-1, C030017C09Rik |
| MMRRC Submission |
067931-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R8488 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
84553821-84587874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84578005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 96
(R96C)
|
| 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: R105C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066396
Gene: ENSMUSG00000036106
AA Change: R105C
| 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: R96C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127890
Gene: ENSMUSG00000036106
AA Change: R96C
| 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 |
0.2747 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (39/39) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actg1 |
A |
G |
11: 120,238,517 (GRCm39) |
V160A |
possibly damaging |
Het |
| Anapc5 |
A |
G |
5: 122,956,033 (GRCm39) |
*96Q |
probably null |
Het |
| Ano2 |
A |
G |
6: 125,957,133 (GRCm39) |
Y634C |
probably damaging |
Het |
| Appl2 |
T |
C |
10: 83,446,866 (GRCm39) |
K406R |
probably benign |
Het |
| Arhgef15 |
T |
A |
11: 68,838,496 (GRCm39) |
|
probably null |
Het |
| Atp13a4 |
C |
A |
16: 29,236,654 (GRCm39) |
E868D |
possibly damaging |
Het |
| BC005624 |
T |
C |
2: 30,871,857 (GRCm39) |
K6E |
possibly damaging |
Het |
| Cd200l2 |
A |
G |
16: 45,348,834 (GRCm39) |
Y113H |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,965,002 (GRCm39) |
I2024N |
probably damaging |
Het |
| Clint1 |
T |
G |
11: 45,781,457 (GRCm39) |
Y176D |
probably damaging |
Het |
| Crxos |
T |
C |
7: 15,637,625 (GRCm39) |
S65P |
possibly damaging |
Het |
| Cyp4f15 |
A |
G |
17: 32,920,948 (GRCm39) |
T408A |
probably benign |
Het |
| Depdc1a |
A |
G |
3: 159,229,512 (GRCm39) |
M615V |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,066,850 (GRCm39) |
I194M |
possibly damaging |
Het |
| Dsg2 |
A |
G |
18: 20,734,431 (GRCm39) |
Y803C |
probably damaging |
Het |
| Dtd2 |
A |
G |
12: 52,046,344 (GRCm39) |
L165P |
probably benign |
Het |
| Gabrb2 |
A |
T |
11: 42,517,491 (GRCm39) |
S438C |
possibly damaging |
Het |
| Gjb5 |
C |
A |
4: 127,250,078 (GRCm39) |
R22L |
probably damaging |
Het |
| Gls |
A |
G |
1: 52,239,012 (GRCm39) |
|
probably null |
Het |
| Gm10800 |
AAGAAAACTGAAAATCAT |
A |
2: 98,497,379 (GRCm39) |
|
probably benign |
Het |
| Gstt2 |
T |
A |
10: 75,667,823 (GRCm39) |
S211C |
possibly damaging |
Het |
| Hck |
A |
G |
2: 152,966,130 (GRCm39) |
K35E |
probably benign |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
C |
T |
3: 59,227,431 (GRCm39) |
G2081R |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,396,356 (GRCm39) |
E2403K |
probably damaging |
Het |
| Or3a1 |
C |
T |
11: 74,225,932 (GRCm39) |
V42I |
probably benign |
Het |
| Or6c3b |
T |
A |
10: 129,527,343 (GRCm39) |
D189V |
probably damaging |
Het |
| Phlpp2 |
A |
T |
8: 110,640,202 (GRCm39) |
M456L |
probably benign |
Het |
| Pnp2 |
A |
G |
14: 51,201,836 (GRCm39) |
E274G |
possibly damaging |
Het |
| Pold3 |
T |
C |
7: 99,738,938 (GRCm39) |
Y303C |
probably benign |
Het |
| Repin1 |
A |
T |
6: 48,570,952 (GRCm39) |
D2V |
probably damaging |
Het |
| Sec23b |
T |
A |
2: 144,423,983 (GRCm39) |
V544E |
probably damaging |
Het |
| Slc6a17 |
A |
G |
3: 107,384,574 (GRCm39) |
F342S |
possibly damaging |
Het |
| Slco4c1 |
T |
C |
1: 96,759,736 (GRCm39) |
N532S |
probably benign |
Het |
| Slitrk3 |
T |
G |
3: 72,958,520 (GRCm39) |
Y84S |
probably benign |
Het |
| Srcin1 |
T |
C |
11: 97,416,686 (GRCm39) |
|
probably null |
Het |
| Syne2 |
C |
T |
12: 76,012,546 (GRCm39) |
A2580V |
probably benign |
Het |
| Tex48 |
C |
T |
4: 63,530,160 (GRCm39) |
E20K |
probably benign |
Het |
| Trip13 |
A |
T |
13: 74,081,032 (GRCm39) |
N111K |
probably benign |
Het |
| Ugcg |
T |
A |
4: 59,213,896 (GRCm39) |
N159K |
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 |
|
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 |
|
|
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'- CTCTATAGTTCTGTGACCTGTGAC -3'
(R):5'- TGCAGACTCTCTCCAAGGTC -3'
Sequencing Primer
(F):5'- TCTGTGACCTGTGACAGCCC -3'
(R):5'- TCCCAGTCCAGACCTCAGTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation