Incidental Mutation 'R4562:Prr5'
| ID |
343165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr5
|
| Ensembl Gene |
ENSMUSG00000036106 |
| Gene Name |
proline rich 5 (renal) |
| Synonyms |
Protor-1, C030017C09Rik |
| MMRRC Submission |
041787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R4562 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
84553821-84587874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 84626114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 63
(D63A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132008
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006029]
[ENSMUST00000168811]
[ENSMUST00000172307]
|
| AlphaFold |
Q812A5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006029
AA Change: D63A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000006029
Gene: ENSMUSG00000078954
AA Change: D63A
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
14 |
165 |
1.48e-26 |
SMART |
|
low complexity region
|
174 |
192 |
N/A |
INTRINSIC |
|
RhoGAP
|
207 |
378 |
2.93e-55 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163312
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167499
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168811
AA Change: D63A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130977
Gene: ENSMUSG00000078954
AA Change: D63A
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
14 |
165 |
1.48e-26 |
SMART |
|
low complexity region
|
174 |
192 |
N/A |
INTRINSIC |
|
RhoGAP
|
207 |
378 |
2.93e-55 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172307
AA Change: D63A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132008
Gene: ENSMUSG00000078954
AA Change: D63A
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
14 |
165 |
1.48e-26 |
SMART |
|
low complexity region
|
174 |
192 |
N/A |
INTRINSIC |
|
RhoGAP
|
207 |
378 |
2.93e-55 |
SMART |
|
| Meta Mutation Damage Score |
0.4025 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (53/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
G |
A |
3: 36,120,331 (GRCm39) |
R25K |
probably benign |
Het |
| Acap1 |
C |
T |
11: 69,776,177 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,098,215 (GRCm39) |
L309P |
probably damaging |
Het |
| Asap2 |
A |
G |
12: 21,162,094 (GRCm39) |
D17G |
probably damaging |
Het |
| Atp8b1 |
A |
T |
18: 64,689,962 (GRCm39) |
V590D |
probably damaging |
Het |
| Bace2 |
G |
A |
16: 97,223,180 (GRCm39) |
R368Q |
probably damaging |
Het |
| Cad |
G |
A |
5: 31,215,477 (GRCm39) |
S96N |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,763,240 (GRCm39) |
T1303A |
probably benign |
Het |
| Defa24 |
A |
G |
8: 22,224,523 (GRCm39) |
|
probably benign |
Het |
| Dffb |
A |
G |
4: 154,049,913 (GRCm39) |
C317R |
probably damaging |
Het |
| Erap1 |
T |
C |
13: 74,821,778 (GRCm39) |
V711A |
probably benign |
Het |
| Esco1 |
A |
G |
18: 10,595,074 (GRCm39) |
S71P |
possibly damaging |
Het |
| Evpl |
G |
A |
11: 116,124,225 (GRCm39) |
T198M |
possibly damaging |
Het |
| Gm10797 |
A |
G |
10: 67,408,515 (GRCm39) |
|
noncoding transcript |
Het |
| Gm10822 |
C |
T |
2: 73,729,833 (GRCm39) |
|
noncoding transcript |
Het |
| Huwe1 |
A |
T |
X: 150,646,955 (GRCm39) |
I682F |
probably damaging |
Het |
| Ift22 |
A |
G |
5: 136,941,724 (GRCm39) |
E152G |
probably benign |
Het |
| Ighv3-5 |
T |
A |
12: 114,226,498 (GRCm39) |
T25S |
possibly damaging |
Het |
| Ivl |
CCTGCTGCTGCT |
CCTGCTGCTGCTGCT |
3: 92,479,262 (GRCm39) |
|
probably benign |
Het |
| Kcna5 |
T |
C |
6: 126,511,303 (GRCm39) |
H275R |
probably benign |
Het |
| Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
| Klf14 |
G |
A |
6: 30,935,394 (GRCm39) |
A80V |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,652,715 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
T |
A |
11: 58,273,215 (GRCm39) |
|
probably null |
Het |
| Mef2b |
G |
A |
8: 70,619,918 (GRCm39) |
D345N |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mtmr10 |
C |
T |
7: 63,963,907 (GRCm39) |
T214M |
possibly damaging |
Het |
| Or10g9b |
A |
G |
9: 39,917,577 (GRCm39) |
S223P |
probably damaging |
Het |
| Or13g1 |
A |
G |
7: 85,956,360 (GRCm39) |
|
probably benign |
Het |
| Or4f4b |
A |
T |
2: 111,313,909 (GRCm39) |
M45L |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,459,252 (GRCm39) |
|
probably null |
Het |
| P4htm |
T |
C |
9: 108,459,195 (GRCm39) |
S246G |
probably null |
Het |
| Pax2 |
A |
G |
19: 44,824,402 (GRCm39) |
Y374C |
unknown |
Het |
| Pde6b |
A |
G |
5: 108,551,234 (GRCm39) |
K173E |
probably benign |
Het |
| Pde8a |
T |
A |
7: 80,958,568 (GRCm39) |
Y315* |
probably null |
Het |
| Plekhh2 |
A |
G |
17: 84,873,525 (GRCm39) |
D270G |
probably benign |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
C |
A |
7: 28,774,005 (GRCm39) |
|
probably benign |
Het |
| Slc4a1ap |
G |
A |
5: 31,689,373 (GRCm39) |
V347M |
probably damaging |
Het |
| Tasor |
A |
G |
14: 27,188,265 (GRCm39) |
T904A |
possibly damaging |
Het |
| Tln1 |
C |
A |
4: 43,533,598 (GRCm39) |
A2319S |
probably damaging |
Het |
| Tm6sf1 |
G |
A |
7: 81,509,209 (GRCm39) |
A5T |
probably damaging |
Het |
| Tmem117 |
A |
T |
15: 94,992,677 (GRCm39) |
M446L |
probably benign |
Het |
| Tnfrsf22 |
C |
T |
7: 143,203,313 (GRCm39) |
R19Q |
unknown |
Het |
| Tnfsf11 |
T |
C |
14: 78,516,020 (GRCm39) |
D316G |
probably damaging |
Het |
| Trerf1 |
G |
A |
17: 47,637,997 (GRCm39) |
|
noncoding transcript |
Het |
| Ttc13 |
A |
G |
8: 125,402,016 (GRCm39) |
L657P |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 102,957,720 (GRCm39) |
T45I |
probably damaging |
Het |
| Usp3 |
G |
T |
9: 66,428,047 (GRCm39) |
|
probably benign |
Het |
| Vmn2r-ps158 |
C |
T |
7: 42,672,986 (GRCm39) |
Q130* |
probably null |
Het |
| Wdr31 |
A |
C |
4: 62,372,159 (GRCm39) |
L319W |
probably damaging |
Het |
| Zfp947 |
G |
T |
17: 22,365,124 (GRCm39) |
Y183* |
probably null |
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 |
|
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'- GGACATGAGTCACCATGCAG -3'
(R):5'- GACTCTCTCCATCACTGAAATGAGG -3'
Sequencing Primer
(F):5'- TCACCATGCAGGCCTGGATAAG -3'
(R):5'- TCCATCACTGAAATGAGGCGCTAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation