Incidental Mutation 'R8974:Pfpl'
ID |
683348 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pfpl
|
Ensembl Gene |
ENSMUSG00000040065 |
Gene Name |
pore forming protein-like |
Synonyms |
Epcs5, Epcs50 |
MMRRC Submission |
068808-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R8974 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
12405290-12409474 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 12405839 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 30
(G30D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126346
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168148]
[ENSMUST00000214153]
[ENSMUST00000216506]
|
AlphaFold |
Q5RKV8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168148
AA Change: G30D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126346 Gene: ENSMUSG00000040065 AA Change: G30D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
MACPF
|
144 |
343 |
6.26e-33 |
SMART |
transmembrane domain
|
643 |
665 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214153
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216506
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat3 |
A |
G |
17: 13,143,716 (GRCm39) |
V342A |
probably damaging |
Het |
Acot4 |
T |
C |
12: 84,090,515 (GRCm39) |
F404S |
probably benign |
Het |
Alpk1 |
T |
C |
3: 127,473,580 (GRCm39) |
T808A |
probably benign |
Het |
Apba3 |
T |
C |
10: 81,109,032 (GRCm39) |
V154A |
|
Het |
Arhgap27 |
A |
T |
11: 103,224,756 (GRCm39) |
F476I |
possibly damaging |
Het |
Asah2 |
A |
T |
19: 32,030,305 (GRCm39) |
D122E |
probably benign |
Het |
Asb10 |
T |
C |
5: 24,745,209 (GRCm39) |
I47V |
probably benign |
Het |
Catsperd |
A |
G |
17: 56,959,525 (GRCm39) |
T322A |
possibly damaging |
Het |
Ccdc142 |
T |
C |
6: 83,078,963 (GRCm39) |
V100A |
probably benign |
Het |
Cdc5l |
A |
T |
17: 45,715,621 (GRCm39) |
C664S |
possibly damaging |
Het |
Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
Cep89 |
A |
G |
7: 35,097,493 (GRCm39) |
S40G |
probably damaging |
Het |
Csmd2 |
A |
G |
4: 128,446,380 (GRCm39) |
K3315R |
|
Het |
Cyp2d34 |
T |
C |
15: 82,500,537 (GRCm39) |
E434G |
probably damaging |
Het |
Degs1 |
A |
G |
1: 182,107,278 (GRCm39) |
Y30H |
probably benign |
Het |
Eps8l1 |
A |
G |
7: 4,474,817 (GRCm39) |
D266G |
probably damaging |
Het |
Fam168a |
A |
T |
7: 100,484,611 (GRCm39) |
T234S |
probably benign |
Het |
Fzd3 |
G |
T |
14: 65,472,440 (GRCm39) |
Q443K |
possibly damaging |
Het |
Galnt7 |
A |
G |
8: 58,105,934 (GRCm39) |
S27P |
|
Het |
Gpr162 |
T |
C |
6: 124,837,876 (GRCm39) |
D258G |
probably damaging |
Het |
Hdac2 |
A |
G |
10: 36,862,340 (GRCm39) |
Y68C |
probably damaging |
Het |
Lmbr1l |
A |
G |
15: 98,810,408 (GRCm39) |
C68R |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,518,899 (GRCm39) |
T1902A |
possibly damaging |
Het |
Lrrc4c |
T |
C |
2: 97,459,992 (GRCm39) |
M206T |
probably damaging |
Het |
Lrrc75b |
T |
C |
10: 75,389,848 (GRCm39) |
T168A |
probably benign |
Het |
Magi1 |
A |
G |
6: 93,674,223 (GRCm39) |
F1003L |
probably damaging |
Het |
Map1s |
T |
C |
8: 71,366,994 (GRCm39) |
L633P |
probably damaging |
Het |
Mapk11 |
G |
A |
15: 89,028,014 (GRCm39) |
T341I |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,361,857 (GRCm39) |
V4441D |
probably damaging |
Het |
Nin |
T |
C |
12: 70,124,932 (GRCm39) |
E130G |
|
Het |
Nod2 |
T |
A |
8: 89,390,433 (GRCm39) |
Y247N |
probably damaging |
Het |
Nudcd3 |
A |
T |
11: 6,143,163 (GRCm39) |
V169E |
probably benign |
Het |
Or2w2 |
A |
T |
13: 21,758,203 (GRCm39) |
I141N |
probably damaging |
Het |
Or51v15-ps1 |
T |
C |
7: 103,278,489 (GRCm39) |
Y226C |
unknown |
Het |
Or6c200-ps1 |
A |
C |
10: 128,869,905 (GRCm39) |
C269G |
probably damaging |
Het |
Pcdh9 |
A |
C |
14: 94,125,113 (GRCm39) |
N352K |
probably benign |
Het |
Pi15 |
A |
G |
1: 17,691,675 (GRCm39) |
D159G |
possibly damaging |
Het |
Plxna4 |
G |
T |
6: 32,216,447 (GRCm39) |
R543S |
possibly damaging |
Het |
Ppp1r12c |
C |
T |
7: 4,486,698 (GRCm39) |
E543K |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,617,726 (GRCm39) |
|
probably null |
Het |
Proca1 |
T |
C |
11: 78,096,144 (GRCm39) |
S172P |
probably damaging |
Het |
Ralgapa1 |
C |
A |
12: 55,723,791 (GRCm39) |
M1578I |
probably benign |
Het |
Rnf103 |
C |
A |
6: 71,486,092 (GRCm39) |
A241E |
probably damaging |
Het |
Rorb |
T |
C |
19: 18,955,070 (GRCm39) |
D182G |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,742,624 (GRCm39) |
K485E |
possibly damaging |
Het |
Sec24d |
G |
A |
3: 123,099,498 (GRCm39) |
D324N |
probably damaging |
Het |
Serpina3f |
T |
A |
12: 104,183,642 (GRCm39) |
I168N |
probably damaging |
Het |
Sidt1 |
A |
T |
16: 44,101,980 (GRCm39) |
*62R |
probably null |
Het |
Slc22a27 |
A |
C |
19: 7,903,751 (GRCm39) |
S129A |
probably damaging |
Het |
Spata31e1 |
T |
C |
13: 49,939,556 (GRCm39) |
D718G |
probably benign |
Het |
Stab1 |
A |
G |
14: 30,882,779 (GRCm39) |
V408A |
probably benign |
Het |
Svil |
G |
T |
18: 5,099,650 (GRCm39) |
G1729W |
probably damaging |
Het |
Tbx20 |
A |
G |
9: 24,681,082 (GRCm39) |
S137P |
probably damaging |
Het |
Tcstv2c |
T |
A |
13: 120,616,486 (GRCm39) |
D108E |
probably benign |
Het |
Trem2 |
G |
A |
17: 48,655,599 (GRCm39) |
R52Q |
probably damaging |
Het |
Trim55 |
T |
C |
3: 19,699,603 (GRCm39) |
S112P |
probably damaging |
Het |
Vmn1r172 |
A |
T |
7: 23,359,840 (GRCm39) |
M242L |
probably benign |
Het |
Vmn2r91 |
G |
A |
17: 18,325,636 (GRCm39) |
A85T |
probably benign |
Het |
Zc3h3 |
T |
C |
15: 75,657,452 (GRCm39) |
T580A |
probably benign |
Het |
Zfp451 |
A |
G |
1: 33,816,535 (GRCm39) |
C472R |
probably damaging |
Het |
|
Other mutations in Pfpl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00930:Pfpl
|
APN |
19 |
12,407,009 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01298:Pfpl
|
APN |
19 |
12,406,037 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL01310:Pfpl
|
APN |
19 |
12,405,974 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02273:Pfpl
|
APN |
19 |
12,407,327 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02532:Pfpl
|
APN |
19 |
12,406,209 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02611:Pfpl
|
APN |
19 |
12,407,647 (GRCm39) |
missense |
probably benign |
|
IGL02642:Pfpl
|
APN |
19 |
12,407,107 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02715:Pfpl
|
APN |
19 |
12,407,145 (GRCm39) |
nonsense |
probably null |
|
IGL03087:Pfpl
|
APN |
19 |
12,406,241 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03223:Pfpl
|
APN |
19 |
12,407,438 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03253:Pfpl
|
APN |
19 |
12,407,393 (GRCm39) |
missense |
probably damaging |
0.99 |
pegged
|
UTSW |
19 |
12,406,374 (GRCm39) |
missense |
probably damaging |
1.00 |
D3080:Pfpl
|
UTSW |
19 |
12,406,196 (GRCm39) |
missense |
probably damaging |
0.98 |
R0276:Pfpl
|
UTSW |
19 |
12,406,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R0433:Pfpl
|
UTSW |
19 |
12,406,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R1004:Pfpl
|
UTSW |
19 |
12,407,789 (GRCm39) |
missense |
probably benign |
0.00 |
R1510:Pfpl
|
UTSW |
19 |
12,407,060 (GRCm39) |
missense |
probably benign |
0.31 |
R1759:Pfpl
|
UTSW |
19 |
12,407,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R2009:Pfpl
|
UTSW |
19 |
12,407,319 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2063:Pfpl
|
UTSW |
19 |
12,407,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R2201:Pfpl
|
UTSW |
19 |
12,407,843 (GRCm39) |
missense |
probably benign |
0.01 |
R2656:Pfpl
|
UTSW |
19 |
12,407,600 (GRCm39) |
missense |
probably benign |
|
R2969:Pfpl
|
UTSW |
19 |
12,406,907 (GRCm39) |
missense |
probably benign |
0.00 |
R3003:Pfpl
|
UTSW |
19 |
12,407,690 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3428:Pfpl
|
UTSW |
19 |
12,407,677 (GRCm39) |
missense |
probably benign |
0.37 |
R3904:Pfpl
|
UTSW |
19 |
12,407,801 (GRCm39) |
missense |
probably benign |
0.00 |
R4049:Pfpl
|
UTSW |
19 |
12,407,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R4717:Pfpl
|
UTSW |
19 |
12,406,618 (GRCm39) |
missense |
probably benign |
0.07 |
R5343:Pfpl
|
UTSW |
19 |
12,406,052 (GRCm39) |
missense |
probably damaging |
0.99 |
R5804:Pfpl
|
UTSW |
19 |
12,407,027 (GRCm39) |
missense |
probably benign |
0.00 |
R6032:Pfpl
|
UTSW |
19 |
12,406,747 (GRCm39) |
missense |
probably damaging |
0.99 |
R6032:Pfpl
|
UTSW |
19 |
12,406,747 (GRCm39) |
missense |
probably damaging |
0.99 |
R6047:Pfpl
|
UTSW |
19 |
12,406,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R6106:Pfpl
|
UTSW |
19 |
12,406,825 (GRCm39) |
missense |
probably damaging |
0.99 |
R6657:Pfpl
|
UTSW |
19 |
12,407,290 (GRCm39) |
missense |
probably benign |
0.36 |
R7467:Pfpl
|
UTSW |
19 |
12,405,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R7720:Pfpl
|
UTSW |
19 |
12,406,538 (GRCm39) |
missense |
probably benign |
0.02 |
R8024:Pfpl
|
UTSW |
19 |
12,407,570 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8370:Pfpl
|
UTSW |
19 |
12,407,275 (GRCm39) |
missense |
probably damaging |
0.99 |
R8730:Pfpl
|
UTSW |
19 |
12,405,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R9147:Pfpl
|
UTSW |
19 |
12,405,804 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9148:Pfpl
|
UTSW |
19 |
12,405,804 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9248:Pfpl
|
UTSW |
19 |
12,406,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R9283:Pfpl
|
UTSW |
19 |
12,406,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R9542:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R9560:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R9561:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R9663:Pfpl
|
UTSW |
19 |
12,407,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R9670:Pfpl
|
UTSW |
19 |
12,407,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R9721:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R9722:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R9723:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R9759:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R9761:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R9762:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Pfpl
|
UTSW |
19 |
12,407,305 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCTAGTGGTCTTAGATACTCCAACC -3'
(R):5'- CCAGGTTGCTCTCTTTCTGAGG -3'
Sequencing Primer
(F):5'- GTGGTCTTAGATACTCCAACCAATTC -3'
(R):5'- CAGGTTGCTCTCTTTCTGAGGAATAG -3'
|
Posted On |
2021-10-11 |