Incidental Mutation 'R2230:Prr5'
ID |
240014 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prr5
|
Ensembl Gene |
ENSMUSG00000036106 |
Gene Name |
proline rich 5 (renal) |
Synonyms |
Protor-1, C030017C09Rik |
MMRRC Submission |
040231-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R2230 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
84553821-84587874 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84586981 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 244
(S244P)
|
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: S253P
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000066396 Gene: ENSMUSG00000036106 AA Change: S253P
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: S244P
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000127890 Gene: ENSMUSG00000036106 AA Change: S244P
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 |
0.1630 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (62/62) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam12 |
A |
T |
7: 133,521,347 (GRCm39) |
N280K |
probably damaging |
Het |
Adgrf4 |
C |
T |
17: 42,977,789 (GRCm39) |
R518Q |
possibly damaging |
Het |
Ankra2 |
T |
C |
13: 98,407,646 (GRCm39) |
F199L |
probably damaging |
Het |
Ankrd63 |
A |
G |
2: 118,533,846 (GRCm39) |
|
probably benign |
Het |
Apoa2 |
A |
G |
1: 171,053,340 (GRCm39) |
K53R |
probably benign |
Het |
Atr |
A |
G |
9: 95,802,818 (GRCm39) |
R1827G |
probably damaging |
Het |
Ccdc61 |
T |
C |
7: 18,625,032 (GRCm39) |
E502G |
probably damaging |
Het |
Ccn2 |
T |
A |
10: 24,472,371 (GRCm39) |
M138K |
possibly damaging |
Het |
Cdon |
T |
C |
9: 35,403,222 (GRCm39) |
|
probably null |
Het |
Cyp2c68 |
T |
A |
19: 39,687,804 (GRCm39) |
S398C |
probably benign |
Het |
Cyp2e1 |
T |
C |
7: 140,344,827 (GRCm39) |
S98P |
probably damaging |
Het |
Dock2 |
T |
A |
11: 34,244,323 (GRCm39) |
I1036F |
probably damaging |
Het |
Entpd7 |
T |
C |
19: 43,710,255 (GRCm39) |
V304A |
probably benign |
Het |
Entrep2 |
G |
A |
7: 64,408,970 (GRCm39) |
H475Y |
probably damaging |
Het |
Ergic3 |
A |
G |
2: 155,859,736 (GRCm39) |
T346A |
probably damaging |
Het |
F2 |
T |
C |
2: 91,456,102 (GRCm39) |
D553G |
probably benign |
Het |
Fam227a |
T |
A |
15: 79,499,582 (GRCm39) |
Y591F |
possibly damaging |
Het |
Gal3st1 |
T |
C |
11: 3,948,282 (GRCm39) |
I163T |
probably benign |
Het |
Gm10650 |
A |
G |
3: 127,833,412 (GRCm39) |
|
noncoding transcript |
Het |
Gm21850 |
G |
T |
2: 153,900,248 (GRCm39) |
V202L |
probably benign |
Het |
Hdc |
T |
A |
2: 126,435,938 (GRCm39) |
E644D |
possibly damaging |
Het |
Hypk |
G |
A |
2: 121,287,773 (GRCm39) |
|
probably null |
Het |
Kif21a |
G |
A |
15: 90,869,565 (GRCm39) |
Q429* |
probably null |
Het |
Mgll |
G |
A |
6: 88,802,714 (GRCm39) |
V318M |
possibly damaging |
Het |
Mrgprb3 |
T |
C |
7: 48,292,770 (GRCm39) |
I260M |
probably benign |
Het |
Musk |
A |
T |
4: 58,333,672 (GRCm39) |
I256F |
possibly damaging |
Het |
Myl3 |
T |
C |
9: 110,596,979 (GRCm39) |
L113P |
probably damaging |
Het |
Myo5c |
A |
G |
9: 75,180,888 (GRCm39) |
D759G |
probably benign |
Het |
Nkx2-1 |
G |
A |
12: 56,580,071 (GRCm39) |
Q290* |
probably null |
Het |
Oaz3 |
T |
C |
3: 94,341,846 (GRCm39) |
T130A |
probably benign |
Het |
Or10j7 |
A |
G |
1: 173,011,182 (GRCm39) |
I273T |
probably benign |
Het |
Or4c3d |
A |
T |
2: 89,882,569 (GRCm39) |
F33Y |
probably benign |
Het |
Or7g16 |
A |
G |
9: 18,727,021 (GRCm39) |
S190P |
probably damaging |
Het |
Or8c13 |
T |
C |
9: 38,091,442 (GRCm39) |
T226A |
probably benign |
Het |
Pabpc2 |
G |
A |
18: 39,908,123 (GRCm39) |
V463I |
probably benign |
Het |
Piezo2 |
A |
T |
18: 63,278,143 (GRCm39) |
C254S |
probably damaging |
Het |
Plxnd1 |
C |
A |
6: 115,941,105 (GRCm39) |
R1302L |
probably damaging |
Het |
Pnpla7 |
T |
C |
2: 24,941,610 (GRCm39) |
|
probably benign |
Het |
Ppl |
G |
A |
16: 4,906,845 (GRCm39) |
T1150I |
possibly damaging |
Het |
Prkag2 |
G |
T |
5: 25,113,362 (GRCm39) |
A113E |
probably benign |
Het |
Proz |
A |
G |
8: 13,113,356 (GRCm39) |
Y59C |
probably damaging |
Het |
Sec14l5 |
A |
G |
16: 4,994,345 (GRCm39) |
T380A |
probably damaging |
Het |
Snw1 |
A |
G |
12: 87,499,428 (GRCm39) |
V391A |
probably benign |
Het |
Sp2 |
C |
T |
11: 96,846,762 (GRCm39) |
C527Y |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,425,606 (GRCm39) |
I76V |
probably damaging |
Het |
Sspo |
C |
A |
6: 48,477,437 (GRCm39) |
Q5123K |
probably benign |
Het |
Tbc1d21 |
A |
C |
9: 58,270,363 (GRCm39) |
N137K |
probably damaging |
Het |
Tek |
G |
A |
4: 94,699,573 (GRCm39) |
C317Y |
probably damaging |
Het |
Tet3 |
T |
C |
6: 83,346,453 (GRCm39) |
D1328G |
probably damaging |
Het |
Topbp1 |
T |
A |
9: 103,223,047 (GRCm39) |
I1377N |
probably damaging |
Het |
Trmt9b |
T |
A |
8: 36,979,707 (GRCm39) |
C437S |
probably damaging |
Het |
Ttf2 |
A |
G |
3: 100,865,260 (GRCm39) |
V544A |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,774,497 (GRCm39) |
F2136L |
probably damaging |
Het |
Ugt2b38 |
A |
G |
5: 87,569,527 (GRCm39) |
F267L |
probably benign |
Het |
Usb1 |
T |
G |
8: 96,070,674 (GRCm39) |
L200R |
probably damaging |
Het |
Vwa5a |
G |
A |
9: 38,645,174 (GRCm39) |
G420R |
probably null |
Het |
Vwa8 |
T |
C |
14: 79,329,843 (GRCm39) |
|
probably null |
Het |
Zfp708 |
A |
T |
13: 67,219,036 (GRCm39) |
Y229* |
probably null |
Het |
Zzef1 |
T |
A |
11: 72,775,242 (GRCm39) |
M1745K |
probably damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCTTTTATTGGGTGTCCC -3'
(R):5'- TGGTCCACAAGAGTCTCTGG -3'
Sequencing Primer
(F):5'- CCCTTTTGTGGATTAGATGCTTGACC -3'
(R):5'- ACAAGAGTCTCTGGGCTGG -3'
|
Posted On |
2014-10-15 |