Incidental Mutation 'R7614:Prr5'
| ID |
588788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr5
|
| Ensembl Gene |
ENSMUSG00000036106 |
| Gene Name |
proline rich 5 (renal) |
| Synonyms |
Protor-1, C030017C09Rik |
| MMRRC Submission |
045682-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R7614 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
84553821-84587874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84641276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 181
(T181A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006029]
[ENSMUST00000168811]
[ENSMUST00000172307]
|
| AlphaFold |
Q812A5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006029
AA Change: T181A
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000006029
Gene: ENSMUSG00000078954
AA Change: T181A
| 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 benign
Transcript: ENSMUST00000168811
AA Change: T181A
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000130977
Gene: ENSMUSG00000078954
AA Change: T181A
| 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 benign
Transcript: ENSMUST00000172307
AA Change: T181A
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000132008
Gene: ENSMUSG00000078954
AA Change: T181A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
A |
G |
1: 156,464,429 (GRCm39) |
T535A |
possibly damaging |
Het |
| Adcy9 |
A |
T |
16: 4,236,088 (GRCm39) |
L441Q |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,668,780 (GRCm39) |
V2592E |
probably damaging |
Het |
| Ahdc1 |
A |
G |
4: 132,790,825 (GRCm39) |
S689G |
probably benign |
Het |
| Ankrd24 |
G |
A |
10: 81,474,523 (GRCm39) |
G229E |
unknown |
Het |
| Ankrd34c |
T |
A |
9: 89,610,914 (GRCm39) |
I476F |
probably damaging |
Het |
| Arhgef19 |
A |
G |
4: 140,984,090 (GRCm39) |
H770R |
possibly damaging |
Het |
| Arhgef4 |
T |
G |
1: 34,771,316 (GRCm39) |
S1208A |
possibly damaging |
Het |
| Arid1a |
A |
T |
4: 133,418,466 (GRCm39) |
M654K |
unknown |
Het |
| Atp11b |
T |
A |
3: 35,864,259 (GRCm39) |
|
probably null |
Het |
| Cadps |
A |
G |
14: 12,454,260 (GRCm38) |
I1086T |
probably damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cfap276 |
T |
A |
3: 108,449,848 (GRCm39) |
D42E |
probably benign |
Het |
| Cntn3 |
T |
C |
6: 102,142,337 (GRCm39) |
H1010R |
probably benign |
Het |
| Cyp2c66 |
T |
A |
19: 39,159,472 (GRCm39) |
Y308N |
probably damaging |
Het |
| Dok6 |
T |
A |
18: 89,492,067 (GRCm39) |
H170L |
probably damaging |
Het |
| Eefsec |
C |
T |
6: 88,258,576 (GRCm39) |
D506N |
possibly damaging |
Het |
| Fam181a |
C |
T |
12: 103,282,805 (GRCm39) |
P237S |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,184,867 (GRCm39) |
I19V |
probably damaging |
Het |
| Gm3285 |
A |
T |
10: 77,697,865 (GRCm39) |
T5S |
unknown |
Het |
| Heg1 |
A |
G |
16: 33,547,733 (GRCm39) |
E864G |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,803,023 (GRCm39) |
L2124* |
probably null |
Het |
| Hexa |
T |
C |
9: 59,469,230 (GRCm39) |
S331P |
probably damaging |
Het |
| Hspb1 |
A |
T |
5: 135,917,223 (GRCm39) |
D104V |
probably damaging |
Het |
| Ikzf1 |
A |
T |
11: 11,719,019 (GRCm39) |
Q329L |
probably damaging |
Het |
| Kcnf1 |
C |
A |
12: 17,224,787 (GRCm39) |
R478L |
probably benign |
Het |
| Kdm3a |
T |
C |
6: 71,568,937 (GRCm39) |
T1161A |
possibly damaging |
Het |
| Krtap31-2 |
T |
C |
11: 99,827,429 (GRCm39) |
I87T |
possibly damaging |
Het |
| Lars2 |
T |
C |
9: 123,224,176 (GRCm39) |
S116P |
|
Het |
| Lrrk2 |
A |
G |
15: 91,657,061 (GRCm39) |
D1785G |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,701,709 (GRCm39) |
H61R |
probably benign |
Het |
| Or10x4 |
T |
G |
1: 174,219,220 (GRCm39) |
F195C |
probably damaging |
Het |
| Or9s13 |
A |
G |
1: 92,548,183 (GRCm39) |
Y185C |
probably damaging |
Het |
| Pcdhb4 |
C |
A |
18: 37,442,602 (GRCm39) |
H637Q |
probably benign |
Het |
| Pcsk9 |
T |
A |
4: 106,304,763 (GRCm39) |
D435V |
probably benign |
Het |
| Prickle2 |
T |
A |
6: 92,402,631 (GRCm39) |
Y119F |
possibly damaging |
Het |
| Psd |
T |
A |
19: 46,301,877 (GRCm39) |
Q903L |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,649,331 (GRCm39) |
S245T |
probably benign |
Het |
| Resp18 |
T |
C |
1: 75,254,882 (GRCm39) |
S24G |
probably damaging |
Het |
| Slc17a4 |
T |
C |
13: 24,090,580 (GRCm39) |
T89A |
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 94,737,792 (GRCm39) |
Y233C |
probably damaging |
Het |
| Slit1 |
T |
A |
19: 41,622,639 (GRCm39) |
I707F |
probably damaging |
Het |
| Sp4 |
T |
C |
12: 118,218,174 (GRCm39) |
E691G |
possibly damaging |
Het |
| Sun2 |
G |
T |
15: 79,623,225 (GRCm39) |
|
probably null |
Het |
| Syne3 |
T |
C |
12: 104,912,901 (GRCm39) |
T723A |
not run |
Het |
| Tcp1 |
T |
A |
17: 13,141,540 (GRCm39) |
F340I |
possibly damaging |
Het |
| Tmem39b |
A |
T |
4: 129,587,694 (GRCm39) |
V39D |
probably damaging |
Het |
| Tmtc3 |
A |
T |
10: 100,286,214 (GRCm39) |
Y536* |
probably null |
Het |
| Tnfrsf11a |
A |
T |
1: 105,755,094 (GRCm39) |
T389S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,598,873 (GRCm39) |
T19347A |
possibly damaging |
Het |
| Vmn1r68 |
A |
G |
7: 10,261,553 (GRCm39) |
S182P |
probably benign |
Het |
| Vmn2r95 |
A |
G |
17: 18,660,352 (GRCm39) |
T255A |
probably benign |
Het |
| Wdr59 |
T |
C |
8: 112,219,394 (GRCm39) |
Y221C |
|
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 |
|
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'- TCACTTCTCTCTGAGGATGCG -3'
(R):5'- GGGGACTTGAACCTTTATCTCTC -3'
Sequencing Primer
(F):5'- CCGGGATGCCTGAAACTTACAG -3'
(R):5'- GAACCTTTATCTCTCCTGTAGGCAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation