Incidental Mutation 'R8730:Pfpl'
| ID |
662730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pfpl
|
| Ensembl Gene |
ENSMUSG00000040065 |
| Gene Name |
pore forming protein-like |
| Synonyms |
Epcs5, Epcs50 |
| MMRRC Submission |
068578-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R8730 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
12405290-12409474 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12405944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 65
(L65S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168148]
|
| AlphaFold |
Q5RKV8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168148
AA Change: L65S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126346
Gene: ENSMUSG00000040065
AA Change: L65S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
C |
5: 8,208,830 (GRCm39) |
S200A |
probably benign |
Het |
| Adgrg3 |
G |
A |
8: 95,766,556 (GRCm39) |
R409H |
probably benign |
Het |
| Aldh1l2 |
C |
T |
10: 83,342,506 (GRCm39) |
V548M |
possibly damaging |
Het |
| Ampd1 |
T |
A |
3: 102,992,676 (GRCm39) |
C143* |
probably null |
Het |
| Angpt4 |
A |
G |
2: 151,771,467 (GRCm39) |
Q261R |
probably damaging |
Het |
| Ccar1 |
T |
C |
10: 62,601,191 (GRCm39) |
K491E |
probably damaging |
Het |
| Cd177 |
A |
T |
7: 24,457,501 (GRCm39) |
M180K |
possibly damaging |
Het |
| Dcst2 |
C |
T |
3: 89,280,553 (GRCm39) |
R620C |
probably damaging |
Het |
| Dcun1d4 |
T |
A |
5: 73,688,832 (GRCm39) |
|
probably benign |
Het |
| Dhrs1 |
T |
A |
14: 55,980,978 (GRCm39) |
T103S |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,384,087 (GRCm39) |
L1043P |
possibly damaging |
Het |
| Eci3 |
A |
T |
13: 35,144,405 (GRCm39) |
N19K |
probably benign |
Het |
| Ets1 |
A |
T |
9: 32,649,614 (GRCm39) |
D317V |
probably damaging |
Het |
| Fem1c |
T |
C |
18: 46,638,668 (GRCm39) |
I445V |
possibly damaging |
Het |
| Gabpb1 |
T |
C |
2: 126,492,484 (GRCm39) |
I176M |
possibly damaging |
Het |
| Gm6563 |
A |
T |
19: 23,653,429 (GRCm39) |
K73I |
probably damaging |
Het |
| Grap2 |
A |
G |
15: 80,532,140 (GRCm39) |
R252G |
possibly damaging |
Het |
| Gsx1 |
T |
C |
5: 147,126,651 (GRCm39) |
L158P |
probably damaging |
Het |
| Hand2 |
T |
A |
8: 57,775,468 (GRCm39) |
V176E |
probably benign |
Het |
| Hey2 |
G |
T |
10: 30,718,622 (GRCm39) |
T8K |
possibly damaging |
Het |
| Igsf3 |
T |
C |
3: 101,334,532 (GRCm39) |
I203T |
probably benign |
Het |
| Itgax |
G |
A |
7: 127,739,066 (GRCm39) |
|
probably null |
Het |
| Kcnn2 |
A |
G |
18: 45,725,139 (GRCm39) |
I212V |
possibly damaging |
Het |
| Kcnu1 |
G |
T |
8: 26,403,708 (GRCm39) |
V740L |
probably damaging |
Het |
| Kcnv1 |
A |
G |
15: 44,972,797 (GRCm39) |
I362T |
probably damaging |
Het |
| Klhdc9 |
C |
T |
1: 171,186,488 (GRCm39) |
G316D |
probably damaging |
Het |
| Mcmbp |
T |
C |
7: 128,317,738 (GRCm39) |
E169G |
probably damaging |
Het |
| Muc20 |
G |
T |
16: 32,599,490 (GRCm39) |
H645N |
probably benign |
Het |
| Nrm |
A |
G |
17: 36,175,423 (GRCm39) |
T52A |
probably benign |
Het |
| Or13a23-ps1 |
T |
C |
7: 140,119,197 (GRCm39) |
S256P |
unknown |
Het |
| Or14c41 |
A |
G |
7: 86,235,259 (GRCm39) |
K259E |
probably benign |
Het |
| Or2y3 |
A |
T |
17: 38,392,925 (GRCm39) |
*315K |
probably null |
Het |
| Or4c105 |
T |
A |
2: 88,648,043 (GRCm39) |
M176K |
possibly damaging |
Het |
| Or4g7 |
T |
A |
2: 111,309,934 (GRCm39) |
D268E |
probably damaging |
Het |
| Or51f23 |
T |
C |
7: 102,453,348 (GRCm39) |
V221A |
probably benign |
Het |
| Pde11a |
A |
T |
2: 75,889,334 (GRCm39) |
N713K |
probably damaging |
Het |
| Prox1 |
A |
G |
1: 189,894,238 (GRCm39) |
V69A |
possibly damaging |
Het |
| Prss39 |
A |
G |
1: 34,539,198 (GRCm39) |
H146R |
probably damaging |
Het |
| Pxt1 |
A |
T |
17: 29,153,702 (GRCm39) |
F44I |
possibly damaging |
Het |
| Rbp3 |
A |
G |
14: 33,677,795 (GRCm39) |
D581G |
probably benign |
Het |
| Rims2 |
A |
G |
15: 39,381,239 (GRCm39) |
T1057A |
probably benign |
Het |
| Robo1 |
G |
A |
16: 72,786,495 (GRCm39) |
G836R |
probably benign |
Het |
| Slc34a3 |
A |
T |
2: 25,122,057 (GRCm39) |
S155T |
possibly damaging |
Het |
| Slc35d1 |
T |
C |
4: 103,030,951 (GRCm39) |
Y308C |
|
Het |
| Slfn9 |
T |
C |
11: 82,878,194 (GRCm39) |
I312V |
possibly damaging |
Het |
| St3gal5 |
T |
A |
6: 72,130,461 (GRCm39) |
L351Q |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,601,590 (GRCm39) |
D157G |
probably benign |
Het |
| Tmprss11g |
C |
T |
5: 86,638,837 (GRCm39) |
|
probably null |
Het |
| Tnpo1 |
A |
T |
13: 98,989,916 (GRCm39) |
I745N |
probably benign |
Het |
| Uggt1 |
C |
A |
1: 36,236,624 (GRCm39) |
|
probably null |
Het |
| Ugt8a |
G |
A |
3: 125,732,105 (GRCm39) |
|
probably benign |
Het |
| Urod |
T |
C |
4: 116,850,729 (GRCm39) |
|
probably benign |
Het |
| Vmn1r211 |
A |
T |
13: 23,035,838 (GRCm39) |
Y276* |
probably null |
Het |
| Vwa3a |
T |
A |
7: 120,381,910 (GRCm39) |
S582T |
probably damaging |
Het |
| Zfp869 |
A |
T |
8: 70,159,177 (GRCm39) |
C465* |
probably null |
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 |
|
R8974:Pfpl
|
UTSW |
19 |
12,405,839 (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'- TGCACCATGAACAGCTTCATTG -3'
(R):5'- CAGAAGAGAACTTGCCGTTGAC -3'
Sequencing Primer
(F):5'- GAACAGCTTCATTGTCACAGTC -3'
(R):5'- CCGTTGACTCTGGGACGATAATC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation