Incidental Mutation 'R8874:Prr5'
ID |
676491 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prr5
|
Ensembl Gene |
ENSMUSG00000036106 |
Gene Name |
proline rich 5 (renal) |
Synonyms |
Protor-1, C030017C09Rik |
MMRRC Submission |
068744-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R8874 (G1)
|
Quality Score |
174.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
84553821-84587874 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84583916 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 181
(M181T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066396
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065499]
[ENSMUST00000171460]
|
AlphaFold |
Q812A5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065499
AA Change: M181T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000066396 Gene: ENSMUSG00000036106 AA Change: M181T
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 damaging
Transcript: ENSMUST00000171460
AA Change: M172T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000127890 Gene: ENSMUSG00000036106 AA Change: M172T
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: 99.1%
|
Validation Efficiency |
98% (53/54) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
A |
G |
5: 8,875,671 (GRCm39) |
M615V |
possibly damaging |
Het |
Bud31 |
T |
C |
5: 145,079,379 (GRCm39) |
|
probably null |
Het |
Calhm4 |
A |
G |
10: 33,920,264 (GRCm39) |
M1T |
probably null |
Het |
Ccdc42 |
A |
G |
11: 68,485,396 (GRCm39) |
K105E |
probably damaging |
Het |
Cenpq |
A |
G |
17: 41,242,551 (GRCm39) |
S93P |
probably damaging |
Het |
Cfh |
A |
G |
1: 140,014,159 (GRCm39) |
F1222L |
probably damaging |
Het |
Cpxm2 |
A |
T |
7: 131,708,010 (GRCm39) |
|
probably null |
Het |
Cubn |
T |
C |
2: 13,365,157 (GRCm39) |
D1627G |
possibly damaging |
Het |
Diras2 |
T |
C |
13: 52,661,737 (GRCm39) |
E190G |
possibly damaging |
Het |
Dpyd |
G |
C |
3: 118,792,981 (GRCm39) |
A563P |
probably damaging |
Het |
Efcab8 |
T |
A |
2: 153,640,569 (GRCm39) |
N343K |
|
Het |
Gbp2b |
A |
G |
3: 142,314,040 (GRCm39) |
E440G |
probably benign |
Het |
Ghrhr |
T |
C |
6: 55,355,891 (GRCm39) |
F30L |
probably benign |
Het |
Gm3404 |
T |
A |
5: 146,464,953 (GRCm39) |
V231E |
possibly damaging |
Het |
Gramd4 |
A |
G |
15: 85,985,093 (GRCm39) |
H143R |
probably damaging |
Het |
Greb1l |
A |
T |
18: 10,544,896 (GRCm39) |
E1408V |
probably benign |
Het |
Hdgfl1 |
T |
G |
13: 26,954,007 (GRCm39) |
Y22S |
probably damaging |
Het |
Heatr1 |
T |
A |
13: 12,445,793 (GRCm39) |
V1590D |
probably damaging |
Het |
Hecw2 |
A |
T |
1: 53,943,608 (GRCm39) |
|
probably benign |
Het |
Igkv8-30 |
C |
A |
6: 70,094,150 (GRCm39) |
R87L |
probably damaging |
Het |
Il18rap |
T |
A |
1: 40,564,506 (GRCm39) |
C179S |
probably damaging |
Het |
Itprid2 |
A |
G |
2: 79,487,684 (GRCm39) |
K589R |
probably benign |
Het |
Jph4 |
T |
C |
14: 55,351,534 (GRCm39) |
T161A |
possibly damaging |
Het |
Klhdc7a |
A |
T |
4: 139,694,896 (GRCm39) |
M17K |
probably damaging |
Het |
Kpnb1 |
T |
C |
11: 97,056,209 (GRCm39) |
N699S |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,582,643 (GRCm39) |
|
probably null |
Het |
Lca5 |
A |
G |
9: 83,277,503 (GRCm39) |
F614L |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,812,147 (GRCm39) |
V853A |
probably benign |
Het |
Map2 |
A |
T |
1: 66,455,523 (GRCm39) |
T1406S |
probably damaging |
Het |
Med23 |
A |
G |
10: 24,771,617 (GRCm39) |
I552V |
possibly damaging |
Het |
Myo1h |
A |
T |
5: 114,472,163 (GRCm39) |
I414L |
|
Het |
Myom1 |
A |
G |
17: 71,413,199 (GRCm39) |
K1271E |
probably damaging |
Het |
Or14j5 |
A |
T |
17: 38,161,675 (GRCm39) |
K64M |
probably damaging |
Het |
Or2n1b |
T |
A |
17: 38,459,623 (GRCm39) |
V48E |
possibly damaging |
Het |
Or7e177 |
T |
C |
9: 20,212,069 (GRCm39) |
F192S |
possibly damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Prdm2 |
A |
T |
4: 142,859,785 (GRCm39) |
D1168E |
possibly damaging |
Het |
Ptpdc1 |
A |
G |
13: 48,744,168 (GRCm39) |
I151T |
probably damaging |
Het |
Ptpn7 |
T |
C |
1: 135,067,004 (GRCm39) |
V287A |
possibly damaging |
Het |
Ptprz1 |
T |
C |
6: 23,042,747 (GRCm39) |
V2057A |
|
Het |
Rad17 |
G |
T |
13: 100,754,327 (GRCm39) |
A631E |
probably benign |
Het |
Sf3a2 |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
10: 80,640,271 (GRCm39) |
|
probably benign |
Het |
Slc22a2 |
A |
T |
17: 12,828,866 (GRCm39) |
D324V |
probably benign |
Het |
Strc |
C |
T |
2: 121,205,353 (GRCm39) |
|
probably null |
Het |
Taf4b |
T |
G |
18: 14,963,127 (GRCm39) |
D622E |
probably benign |
Het |
Tgfbrap1 |
A |
C |
1: 43,114,973 (GRCm39) |
N42K |
probably benign |
Het |
Uvrag |
A |
G |
7: 98,628,943 (GRCm39) |
F375L |
probably benign |
Het |
Vmn2r76 |
A |
G |
7: 85,877,999 (GRCm39) |
I466T |
probably damaging |
Het |
Vmn2r8 |
T |
C |
5: 108,956,617 (GRCm39) |
K2E |
probably damaging |
Het |
Vps13d |
T |
C |
4: 144,881,772 (GRCm39) |
T1274A |
|
Het |
Vwa3b |
C |
T |
1: 37,074,839 (GRCm39) |
A2V |
possibly damaging |
Het |
Ylpm1 |
T |
C |
12: 85,116,394 (GRCm39) |
V2092A |
probably damaging |
Het |
Zfp638 |
T |
C |
6: 83,946,135 (GRCm39) |
S1055P |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,754,815 (GRCm39) |
T982A |
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 |
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 |
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'- TTAAGAGCAATGTGGCCAGC -3'
(R):5'- TGTACCAAGTGCCTGGATCAG -3'
Sequencing Primer
(F):5'- AATGTGGCCAGCTCGTC -3'
(R):5'- TACCAAGTGCCTGGATCAGTTGTG -3'
|
Posted On |
2021-07-15 |