Incidental Mutation 'R8268:Prr5'
| ID |
639556 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr5
|
| Ensembl Gene |
ENSMUSG00000036106 |
| Gene Name |
proline rich 5 (renal) |
| Synonyms |
Protor-1, C030017C09Rik |
| MMRRC Submission |
067692-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R8268 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
84553821-84587874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84587192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 323
(L323P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065499]
[ENSMUST00000171460]
|
| AlphaFold |
Q812A5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065499
AA Change: L323P
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000066396
Gene: ENSMUSG00000036106
AA Change: L323P
| 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: L314P
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000127890
Gene: ENSMUSG00000036106
AA Change: L314P
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
97% (37/38) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
A |
T |
8: 71,909,961 (GRCm39) |
C396S |
probably benign |
Het |
| Ccpg1 |
G |
A |
9: 72,913,001 (GRCm39) |
R179H |
probably damaging |
Het |
| Ciapin1 |
A |
G |
8: 95,558,511 (GRCm39) |
V67A |
probably benign |
Het |
| Col7a1 |
A |
G |
9: 108,802,057 (GRCm39) |
R2018G |
unknown |
Het |
| Dnah11 |
A |
T |
12: 117,991,243 (GRCm39) |
Y2374* |
probably null |
Het |
| Dnah7b |
G |
T |
1: 46,395,736 (GRCm39) |
M3879I |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Gm12258 |
A |
C |
11: 58,745,084 (GRCm39) |
|
probably null |
Het |
| Hpse |
A |
G |
5: 100,846,907 (GRCm39) |
L174S |
probably damaging |
Het |
| Hspa8 |
A |
G |
9: 40,714,448 (GRCm39) |
K248R |
probably damaging |
Het |
| Kcnt2 |
A |
C |
1: 140,450,954 (GRCm39) |
R744S |
probably damaging |
Het |
| Klhl32 |
G |
A |
4: 24,800,843 (GRCm39) |
|
probably benign |
Het |
| Mkrn3 |
A |
G |
7: 62,068,270 (GRCm39) |
L507P |
probably damaging |
Het |
| Myom2 |
T |
G |
8: 15,179,157 (GRCm39) |
F1330V |
probably damaging |
Het |
| Nr1d2 |
A |
G |
14: 18,216,659 (GRCm38) |
S170P |
probably damaging |
Het |
| Nt5dc1 |
T |
C |
10: 34,186,407 (GRCm39) |
D388G |
probably damaging |
Het |
| Or12e9 |
C |
A |
2: 87,202,332 (GRCm39) |
A152E |
probably damaging |
Het |
| Or13a17 |
A |
G |
7: 140,271,430 (GRCm39) |
D204G |
probably damaging |
Het |
| Or4a68 |
T |
C |
2: 89,269,780 (GRCm39) |
N281S |
probably damaging |
Het |
| Or7a36 |
T |
A |
10: 78,819,831 (GRCm39) |
V69E |
probably damaging |
Het |
| Pigg |
T |
A |
5: 108,486,509 (GRCm39) |
S721T |
probably damaging |
Het |
| Rapgef2 |
T |
A |
3: 78,993,263 (GRCm39) |
I742L |
probably benign |
Het |
| Rxrb |
A |
G |
17: 34,254,750 (GRCm39) |
S302G |
probably benign |
Het |
| Setd5 |
T |
G |
6: 113,126,651 (GRCm39) |
|
probably null |
Het |
| Sh3bgr |
A |
G |
16: 96,025,674 (GRCm39) |
T187A |
unknown |
Het |
| Sh3pxd2a |
C |
T |
19: 47,256,033 (GRCm39) |
R923H |
probably benign |
Het |
| Slc26a10 |
A |
G |
10: 127,009,491 (GRCm39) |
|
probably null |
Het |
| Slc9a1 |
T |
A |
4: 133,097,934 (GRCm39) |
V27E |
probably benign |
Het |
| Stard3nl |
A |
G |
13: 19,560,629 (GRCm39) |
S49P |
probably damaging |
Het |
| Stxbp2 |
G |
A |
8: 3,682,234 (GRCm39) |
V17I |
|
Het |
| Themis3 |
C |
T |
17: 66,862,786 (GRCm39) |
E391K |
probably benign |
Het |
| Tia1 |
A |
G |
6: 86,404,996 (GRCm39) |
|
probably benign |
Het |
| Tmem167 |
T |
C |
13: 90,252,554 (GRCm39) |
F70S |
probably damaging |
Het |
| Trpm6 |
C |
A |
19: 18,851,225 (GRCm39) |
Q1729K |
possibly damaging |
Het |
| Tsc2 |
A |
C |
17: 24,818,984 (GRCm39) |
L1285W |
probably benign |
Het |
| Uchl4 |
A |
T |
9: 64,142,791 (GRCm39) |
I91F |
probably damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,089,476 (GRCm39) |
A573T |
probably damaging |
Het |
| Zc2hc1c |
C |
T |
12: 85,336,595 (GRCm39) |
S84F |
probably benign |
Het |
| Zfp143 |
A |
G |
7: 109,690,991 (GRCm39) |
D515G |
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 |
|
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'- TCCTAGCCAAGAACCCAGTG -3'
(R):5'- GGTGCCTCAAAGTCAGACAC -3'
Sequencing Primer
(F):5'- ATCCTGTGGCCGAGCATGAAG -3'
(R):5'- GACACACTGGAGCGACTTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation