Incidental Mutation 'R8328:Prr5'
| ID |
644218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr5
|
| Ensembl Gene |
ENSMUSG00000036106 |
| Gene Name |
proline rich 5 (renal) |
| Synonyms |
Protor-1, C030017C09Rik |
| MMRRC Submission |
067727-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R8328 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
84553821-84587874 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
G to C
at 84587387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Serine
at position 388
(*388S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065499]
[ENSMUST00000171460]
|
| AlphaFold |
Q812A5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000065499
AA Change: *388S
|
| SMART Domains |
Protein: ENSMUSP00000066396
Gene: ENSMUSG00000036106
AA Change: *388S
| 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 null
Transcript: ENSMUST00000171460
AA Change: *379S
|
| SMART Domains |
Protein: ENSMUSP00000127890
Gene: ENSMUSG00000036106
AA Change: *379S
| 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: 99.6%
- 20x: 98.8%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
A |
T |
6: 92,866,993 (GRCm39) |
M682K |
probably benign |
Het |
| Ankdd1b |
T |
A |
13: 96,591,374 (GRCm39) |
I42F |
possibly damaging |
Het |
| Ankrd6 |
C |
T |
4: 32,810,215 (GRCm39) |
E489K |
probably benign |
Het |
| Arhgef28 |
A |
T |
13: 98,187,517 (GRCm39) |
H259Q |
possibly damaging |
Het |
| Atosb |
T |
C |
4: 43,034,751 (GRCm39) |
T323A |
probably benign |
Het |
| C3 |
T |
C |
17: 57,527,973 (GRCm39) |
S749G |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,806,445 (GRCm39) |
S2338P |
probably benign |
Het |
| Ces2a |
A |
T |
8: 105,463,998 (GRCm39) |
N210I |
probably damaging |
Het |
| Cuzd1 |
A |
T |
7: 130,913,345 (GRCm39) |
V424D |
probably damaging |
Het |
| Cyp2j11 |
T |
A |
4: 96,236,605 (GRCm39) |
H67L |
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,922,115 (GRCm39) |
S800P |
probably damaging |
Het |
| Dmrta2 |
G |
T |
4: 109,837,206 (GRCm39) |
L49F |
unknown |
Het |
| Dpy19l1 |
T |
A |
9: 24,386,686 (GRCm39) |
K9* |
probably null |
Het |
| Dsc2 |
T |
C |
18: 20,165,576 (GRCm39) |
H843R |
possibly damaging |
Het |
| Dsg1b |
T |
A |
18: 20,510,007 (GRCm39) |
F6I |
probably benign |
Het |
| Hck |
C |
T |
2: 152,970,987 (GRCm39) |
A83V |
probably damaging |
Het |
| Hdc |
T |
C |
2: 126,443,803 (GRCm39) |
E292G |
probably damaging |
Het |
| Ighv1-23 |
A |
G |
12: 114,728,116 (GRCm39) |
L102P |
probably damaging |
Het |
| Kdm3b |
G |
A |
18: 34,926,123 (GRCm39) |
V88M |
probably damaging |
Het |
| Kremen2 |
A |
G |
17: 23,961,745 (GRCm39) |
V254A |
probably benign |
Het |
| Lrrc8e |
T |
A |
8: 4,285,641 (GRCm39) |
I622N |
probably damaging |
Het |
| Megf8 |
A |
G |
7: 25,046,917 (GRCm39) |
N1600S |
probably benign |
Het |
| Mical3 |
A |
G |
6: 120,912,138 (GRCm39) |
I1907T |
probably damaging |
Het |
| Nr4a3 |
T |
A |
4: 48,051,323 (GRCm39) |
Y26N |
probably damaging |
Het |
| Nrl |
T |
C |
14: 55,758,163 (GRCm39) |
E188G |
probably damaging |
Het |
| Or4d1 |
A |
G |
11: 87,804,985 (GRCm39) |
M249T |
possibly damaging |
Het |
| Or9e1 |
T |
A |
11: 58,732,460 (GRCm39) |
D173E |
probably benign |
Het |
| Polr1a |
G |
A |
6: 71,897,718 (GRCm39) |
E238K |
probably benign |
Het |
| Pramel26 |
A |
G |
4: 143,537,380 (GRCm39) |
L317P |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,783,473 (GRCm39) |
T1156A |
probably benign |
Het |
| Slc9c1 |
T |
A |
16: 45,398,227 (GRCm39) |
I664K |
probably damaging |
Het |
| Stn1 |
C |
A |
19: 47,505,498 (GRCm39) |
R152L |
probably damaging |
Het |
| Syde2 |
T |
C |
3: 145,721,496 (GRCm39) |
V1121A |
probably benign |
Het |
| Vmn1r158 |
T |
C |
7: 22,489,487 (GRCm39) |
T241A |
probably damaging |
Het |
| Vmn1r209 |
C |
A |
13: 22,990,643 (GRCm39) |
V16L |
probably benign |
Het |
| Wdr19 |
A |
G |
5: 65,382,638 (GRCm39) |
E454G |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,392,726 (GRCm39) |
E4590K |
unknown |
Het |
| Zfp579 |
T |
G |
7: 4,997,866 (GRCm39) |
H15P |
unknown |
Het |
| Zfp628 |
A |
G |
7: 4,922,813 (GRCm39) |
N345S |
probably benign |
Het |
| Zfp944 |
T |
A |
17: 22,558,705 (GRCm39) |
K181* |
probably null |
Het |
| Zscan5b |
C |
T |
7: 6,236,946 (GRCm39) |
P232S |
possibly 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 |
|
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 |
|
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'- CGAGATGACATCTTGTCCGGAG -3'
(R):5'- AAGTGACTTGAGGCAGTGAC -3'
Sequencing Primer
(F):5'- AGGGCTTTGTGGACACGC -3'
(R):5'- CTTGAGGCAGTGACGGGGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation