Incidental Mutation 'R3498:Prr5'
| ID |
273680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr5
|
| Ensembl Gene |
ENSMUSG00000036106 |
| Gene Name |
proline rich 5 (renal) |
| Synonyms |
Protor-1, C030017C09Rik |
| MMRRC Submission |
040661-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R3498 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
84553821-84587874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84587345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 365
(V365E)
|
| 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: V374E
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000066396
Gene: ENSMUSG00000036106
AA Change: V374E
| 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: V365E
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000127890
Gene: ENSMUSG00000036106
AA Change: V365E
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (43/43) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,649,350 (GRCm39) |
F6L |
probably benign |
Het |
| Aurkc |
A |
G |
7: 7,003,029 (GRCm39) |
I175V |
probably damaging |
Het |
| Azi2 |
A |
G |
9: 117,878,475 (GRCm39) |
D105G |
probably damaging |
Het |
| Bcat1 |
A |
G |
6: 144,965,068 (GRCm39) |
V45A |
probably damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Ddx42 |
A |
G |
11: 106,122,019 (GRCm39) |
E178G |
possibly damaging |
Het |
| Dmpk |
T |
C |
7: 18,820,306 (GRCm39) |
I101T |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Fosb |
C |
T |
7: 19,040,557 (GRCm39) |
R161H |
probably damaging |
Het |
| Gm6729 |
T |
C |
10: 86,376,582 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1 |
T |
A |
4: 155,639,483 (GRCm39) |
N237K |
possibly damaging |
Het |
| Gpr35 |
A |
G |
1: 92,911,113 (GRCm39) |
Y275C |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,480,853 (GRCm39) |
I4441N |
probably damaging |
Het |
| Ighe |
G |
A |
12: 113,234,994 (GRCm39) |
Q389* |
probably null |
Het |
| Kcnj11 |
T |
C |
7: 45,749,026 (GRCm39) |
D23G |
probably damaging |
Het |
| Lats2 |
G |
T |
14: 57,959,923 (GRCm39) |
A191E |
possibly damaging |
Het |
| Lyplal1 |
A |
G |
1: 185,820,857 (GRCm39) |
S197P |
possibly damaging |
Het |
| Map4 |
G |
T |
9: 109,864,280 (GRCm39) |
V502L |
probably benign |
Het |
| Mgat5 |
A |
G |
1: 127,312,571 (GRCm39) |
M237V |
possibly damaging |
Het |
| Mindy4 |
A |
G |
6: 55,193,510 (GRCm39) |
R68G |
probably benign |
Het |
| Nell1 |
T |
A |
7: 49,907,927 (GRCm39) |
V362E |
possibly damaging |
Het |
| Or5m8 |
T |
A |
2: 85,822,774 (GRCm39) |
F204L |
probably benign |
Het |
| Or6c66b |
T |
A |
10: 129,376,778 (GRCm39) |
I124N |
probably damaging |
Het |
| P4ha2 |
T |
C |
11: 54,010,079 (GRCm39) |
Y279H |
probably benign |
Het |
| Pcid2 |
A |
G |
8: 13,150,413 (GRCm39) |
V13A |
possibly damaging |
Het |
| Polr2j |
T |
C |
5: 136,151,624 (GRCm39) |
I116T |
probably benign |
Het |
| Prdm9 |
A |
G |
17: 15,783,207 (GRCm39) |
|
probably benign |
Het |
| Ptprf |
A |
T |
4: 118,082,127 (GRCm39) |
I1037N |
probably damaging |
Het |
| Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
| Sde2 |
T |
A |
1: 180,685,750 (GRCm39) |
C101S |
probably damaging |
Het |
| Sec1 |
T |
C |
7: 45,328,663 (GRCm39) |
H128R |
probably damaging |
Het |
| Serpinb6a |
A |
T |
13: 34,102,764 (GRCm39) |
M253K |
probably damaging |
Het |
| Slc1a4 |
A |
T |
11: 20,263,973 (GRCm39) |
I248N |
probably damaging |
Het |
| Slc22a4 |
T |
G |
11: 53,882,879 (GRCm39) |
K328N |
probably benign |
Het |
| Slc24a4 |
A |
T |
12: 102,200,951 (GRCm39) |
K278N |
probably benign |
Het |
| Slc6a21 |
T |
A |
7: 44,930,266 (GRCm39) |
W222R |
probably damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,365,567 (GRCm39) |
E466G |
probably benign |
Het |
| Sspo |
A |
G |
6: 48,444,914 (GRCm39) |
T2133A |
possibly damaging |
Het |
| Taco1 |
A |
G |
11: 105,963,364 (GRCm39) |
M172V |
probably benign |
Het |
| Tmem127 |
T |
A |
2: 127,098,040 (GRCm39) |
H36Q |
probably benign |
Het |
| Tmem229b-ps |
C |
T |
10: 53,351,223 (GRCm39) |
|
noncoding transcript |
Het |
| Vac14 |
A |
G |
8: 111,397,722 (GRCm39) |
D479G |
probably benign |
Het |
| Vmn1r176 |
T |
A |
7: 23,534,667 (GRCm39) |
K162I |
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 |
|
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'- GATGACATCTTGTCCGGAGC -3'
(R):5'- GGCTGGCAAGAGTAACAAGTCTC -3'
Sequencing Primer
(F):5'- AGGGCTTTGTGGACACGC -3'
(R):5'- TGGCAAGAGTAACAAGTCTCTCTCTC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation