Incidental Mutation 'IGL01023:Prr5'
| ID |
54011 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prr5
|
| Ensembl Gene |
ENSMUSG00000036106 |
| Gene Name |
proline rich 5 (renal) |
| Synonyms |
Protor-1, C030017C09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
IGL01023
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
84553821-84587874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84583856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 152
(V152A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127890
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065499]
[ENSMUST00000171460]
|
| AlphaFold |
Q812A5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065499
AA Change: V161A
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000066396
Gene: ENSMUSG00000036106
AA Change: V161A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HbrB
|
38 |
144 |
6.9e-17 |
PFAM |
|
low complexity region
|
333 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171460
AA Change: V152A
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127890
Gene: ENSMUSG00000036106
AA Change: V152A
| 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 |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
A |
G |
2: 128,471,649 (GRCm39) |
L1472P |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,906,809 (GRCm39) |
V1151M |
probably damaging |
Het |
| Crmp1 |
A |
T |
5: 37,433,657 (GRCm39) |
D286V |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 62,395,548 (GRCm39) |
I162F |
probably damaging |
Het |
| Fam24b |
A |
T |
7: 130,927,903 (GRCm39) |
C95* |
probably null |
Het |
| Fsd1 |
A |
G |
17: 56,295,245 (GRCm39) |
Y78C |
probably damaging |
Het |
| Galc |
C |
T |
12: 98,197,681 (GRCm39) |
V343I |
probably benign |
Het |
| Glis2 |
C |
T |
16: 4,429,514 (GRCm39) |
R214C |
probably damaging |
Het |
| Gm14406 |
A |
T |
2: 177,261,032 (GRCm39) |
C416S |
probably damaging |
Het |
| Gnat3 |
T |
C |
5: 18,208,826 (GRCm39) |
S177P |
probably damaging |
Het |
| Higd1a |
C |
T |
9: 121,678,749 (GRCm39) |
G80D |
possibly damaging |
Het |
| Hp1bp3 |
T |
C |
4: 137,967,940 (GRCm39) |
V421A |
possibly damaging |
Het |
| Ipo11 |
A |
T |
13: 107,033,767 (GRCm39) |
F238L |
probably benign |
Het |
| Med26 |
A |
T |
8: 73,249,718 (GRCm39) |
F460L |
possibly damaging |
Het |
| Or5as1 |
T |
A |
2: 86,980,169 (GRCm39) |
T279S |
possibly damaging |
Het |
| Osbp2 |
T |
C |
11: 3,813,387 (GRCm39) |
I161V |
probably benign |
Het |
| Prx |
T |
A |
7: 27,218,844 (GRCm39) |
I1115K |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,810,690 (GRCm39) |
I708M |
probably benign |
Het |
| Robo3 |
T |
C |
9: 37,340,847 (GRCm39) |
T120A |
probably damaging |
Het |
| Setd2 |
C |
A |
9: 110,376,581 (GRCm39) |
S132* |
probably null |
Het |
| Slc9a1 |
A |
G |
4: 133,149,454 (GRCm39) |
E760G |
probably benign |
Het |
| Slco1a7 |
A |
G |
6: 141,700,155 (GRCm39) |
S126P |
probably benign |
Het |
| Stx16 |
A |
T |
2: 173,934,202 (GRCm39) |
H135L |
probably damaging |
Het |
| Tas2r131 |
A |
T |
6: 132,934,764 (GRCm39) |
L15Q |
probably damaging |
Het |
| Thoc2l |
T |
A |
5: 104,668,366 (GRCm39) |
W963R |
probably damaging |
Het |
| Tmcc1 |
A |
G |
6: 116,019,988 (GRCm39) |
L128P |
probably damaging |
Het |
| Tmem269 |
C |
A |
4: 119,066,511 (GRCm39) |
M182I |
probably benign |
Het |
| Tnfaip8l2 |
A |
G |
3: 95,047,726 (GRCm39) |
S46P |
probably damaging |
Het |
| Trim30c |
A |
G |
7: 104,032,179 (GRCm39) |
|
probably benign |
Het |
| Unc13a |
C |
T |
8: 72,114,469 (GRCm39) |
E184K |
probably benign |
Het |
| Wfs1 |
A |
T |
5: 37,125,261 (GRCm39) |
C467* |
probably null |
Het |
| Zfp78 |
G |
A |
7: 6,378,587 (GRCm39) |
G77D |
possibly damaging |
Het |
|
| Other mutations in Prr5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2013-06-28 |
Incidental Mutation