Incidental Mutation 'R6534:Prrc1'
ID |
520313 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prrc1
|
Ensembl Gene |
ENSMUSG00000024594 |
Gene Name |
proline-rich coiled-coil 1 |
Synonyms |
3110038B19Rik, 2310058D16Rik, 9430085A19Rik, 1190002C06Rik |
MMRRC Submission |
044660-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R6534 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
57487813-57526028 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57522346 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 393
(T393A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025490
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025490]
|
AlphaFold |
Q3UPH1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025490
AA Change: T393A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000025490 Gene: ENSMUSG00000024594 AA Change: T393A
Domain | Start | End | E-Value | Type |
low complexity region
|
57 |
71 |
N/A |
INTRINSIC |
low complexity region
|
79 |
96 |
N/A |
INTRINSIC |
low complexity region
|
109 |
134 |
N/A |
INTRINSIC |
Pfam:NTPase_I-T
|
261 |
380 |
4.3e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130696
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acer3 |
A |
T |
7: 97,875,655 (GRCm39) |
L142M |
probably benign |
Het |
Adgrb2 |
T |
C |
4: 129,916,012 (GRCm39) |
F1435L |
probably damaging |
Het |
Anapc13 |
T |
C |
9: 102,511,292 (GRCm39) |
L60P |
probably damaging |
Het |
Apaf1 |
T |
C |
10: 90,891,862 (GRCm39) |
D497G |
probably damaging |
Het |
Arpc1b |
A |
T |
5: 145,059,377 (GRCm39) |
I34F |
probably damaging |
Het |
Atp2a2 |
A |
T |
5: 122,595,261 (GRCm39) |
W1030R |
possibly damaging |
Het |
Cdk5rap2 |
T |
C |
4: 70,273,050 (GRCm39) |
E241G |
probably damaging |
Het |
Cyp4a14 |
T |
A |
4: 115,347,156 (GRCm39) |
|
probably null |
Het |
Ddx10 |
A |
G |
9: 53,134,988 (GRCm39) |
Y399H |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 65,846,074 (GRCm39) |
E2988G |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,481,388 (GRCm39) |
I536M |
probably benign |
Het |
Drc7 |
T |
C |
8: 95,797,910 (GRCm39) |
Y443H |
probably damaging |
Het |
Ecel1 |
A |
G |
1: 87,082,564 (GRCm39) |
S50P |
probably benign |
Het |
Esco1 |
T |
A |
18: 10,594,794 (GRCm39) |
Q164L |
possibly damaging |
Het |
Exosc7 |
A |
G |
9: 122,961,077 (GRCm39) |
D248G |
probably benign |
Het |
Galnt3 |
A |
G |
2: 65,932,875 (GRCm39) |
L201P |
probably damaging |
Het |
Hand2 |
C |
A |
8: 57,775,071 (GRCm39) |
H44N |
probably benign |
Het |
Kcnq1 |
C |
T |
7: 142,748,064 (GRCm39) |
P411S |
probably benign |
Het |
Lonp2 |
A |
G |
8: 87,443,086 (GRCm39) |
D429G |
probably benign |
Het |
Magi3 |
A |
G |
3: 103,992,536 (GRCm39) |
I312T |
possibly damaging |
Het |
Mansc4 |
A |
T |
6: 146,988,371 (GRCm39) |
I31N |
probably damaging |
Het |
Mill2 |
T |
A |
7: 18,590,521 (GRCm39) |
D200E |
possibly damaging |
Het |
Or5d47 |
G |
A |
2: 87,804,385 (GRCm39) |
A208V |
probably benign |
Het |
Pde4d |
A |
G |
13: 109,769,435 (GRCm39) |
K41R |
probably benign |
Het |
Pik3r5 |
G |
A |
11: 68,381,443 (GRCm39) |
D210N |
possibly damaging |
Het |
Plcl1 |
C |
T |
1: 55,735,907 (GRCm39) |
T416I |
probably damaging |
Het |
Plekhd1 |
T |
C |
12: 80,754,031 (GRCm39) |
Y166H |
probably damaging |
Het |
Scaper |
A |
T |
9: 55,791,260 (GRCm39) |
C213S |
probably benign |
Het |
Sfxn4 |
T |
C |
19: 60,827,461 (GRCm39) |
I298V |
probably damaging |
Het |
Slc36a2 |
A |
T |
11: 55,075,693 (GRCm39) |
D31E |
probably benign |
Het |
Stra6l |
G |
A |
4: 45,860,041 (GRCm39) |
|
probably null |
Het |
Tnpo3 |
A |
T |
6: 29,572,702 (GRCm39) |
|
probably null |
Het |
Tonsl |
A |
G |
15: 76,513,877 (GRCm39) |
Y1231H |
probably damaging |
Het |
Ush2a |
C |
A |
1: 188,183,999 (GRCm39) |
Y1434* |
probably null |
Het |
Zfp69 |
T |
C |
4: 120,788,394 (GRCm39) |
Y307C |
probably benign |
Het |
|
Other mutations in Prrc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02527:Prrc1
|
APN |
18 |
57,522,419 (GRCm39) |
missense |
probably benign |
0.37 |
IGL03207:Prrc1
|
APN |
18 |
57,522,389 (GRCm39) |
missense |
probably benign |
0.19 |
R0226:Prrc1
|
UTSW |
18 |
57,496,363 (GRCm39) |
missense |
probably benign |
|
R0375:Prrc1
|
UTSW |
18 |
57,495,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R0470:Prrc1
|
UTSW |
18 |
57,496,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R0540:Prrc1
|
UTSW |
18 |
57,507,622 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0607:Prrc1
|
UTSW |
18 |
57,507,622 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1929:Prrc1
|
UTSW |
18 |
57,514,718 (GRCm39) |
missense |
probably damaging |
0.98 |
R2266:Prrc1
|
UTSW |
18 |
57,514,718 (GRCm39) |
missense |
probably damaging |
0.98 |
R2268:Prrc1
|
UTSW |
18 |
57,514,718 (GRCm39) |
missense |
probably damaging |
0.98 |
R2269:Prrc1
|
UTSW |
18 |
57,514,718 (GRCm39) |
missense |
probably damaging |
0.98 |
R2272:Prrc1
|
UTSW |
18 |
57,514,718 (GRCm39) |
missense |
probably damaging |
0.98 |
R4758:Prrc1
|
UTSW |
18 |
57,517,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R4896:Prrc1
|
UTSW |
18 |
57,507,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R4965:Prrc1
|
UTSW |
18 |
57,507,622 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6395:Prrc1
|
UTSW |
18 |
57,495,619 (GRCm39) |
missense |
probably null |
|
R7514:Prrc1
|
UTSW |
18 |
57,496,325 (GRCm39) |
missense |
probably benign |
0.43 |
R8354:Prrc1
|
UTSW |
18 |
57,504,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R8737:Prrc1
|
UTSW |
18 |
57,496,408 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9042:Prrc1
|
UTSW |
18 |
57,507,764 (GRCm39) |
critical splice donor site |
probably null |
|
R9243:Prrc1
|
UTSW |
18 |
57,496,271 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9246:Prrc1
|
UTSW |
18 |
57,496,208 (GRCm39) |
missense |
probably benign |
0.01 |
R9352:Prrc1
|
UTSW |
18 |
57,522,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TATACAGTTGGTGGCAGCAGAG -3'
(R):5'- TCAGGTTCCTCTGCATGGAG -3'
Sequencing Primer
(F):5'- GAGTTTTAGAGGGTTTGTCATAACC -3'
(R):5'- TTCCTCTGCATGGAGCCCAAG -3'
|
Posted On |
2018-06-06 |