Incidental Mutation 'R9761:Pfpl'
| ID |
733036 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pfpl
|
| Ensembl Gene |
ENSMUSG00000040065 |
| Gene Name |
pore forming protein-like |
| Synonyms |
Epcs5, Epcs50 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R9761 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
12405290-12409474 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 12406297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glutamine
at position 183
(E183Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168148]
|
| AlphaFold |
Q5RKV8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168148
AA Change: E183Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126346
Gene: ENSMUSG00000040065
AA Change: E183Q
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
G |
A |
6: 142,544,854 (GRCm39) |
T1411I |
possibly damaging |
Het |
| Ablim3 |
C |
A |
18: 61,952,885 (GRCm39) |
R393L |
possibly damaging |
Het |
| Akap3 |
A |
G |
6: 126,842,200 (GRCm39) |
D273G |
probably benign |
Het |
| Ankrd35 |
C |
T |
3: 96,591,733 (GRCm39) |
T673I |
possibly damaging |
Het |
| Atp11b |
A |
T |
3: 35,903,607 (GRCm39) |
K1114* |
probably null |
Het |
| Atp11b |
C |
T |
3: 35,903,621 (GRCm39) |
P947L |
probably benign |
Het |
| Atp11b |
G |
T |
3: 35,903,616 (GRCm39) |
D1117Y |
probably damaging |
Het |
| Cfap74 |
C |
A |
4: 155,550,844 (GRCm39) |
H243Q |
unknown |
Het |
| Dgkh |
A |
T |
14: 78,889,163 (GRCm39) |
S111R |
probably damaging |
Het |
| Dpp6 |
G |
A |
5: 27,869,743 (GRCm39) |
R505K |
probably benign |
Het |
| Elp4 |
C |
T |
2: 105,624,904 (GRCm39) |
G330S |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,821,994 (GRCm39) |
N5909I |
probably benign |
Het |
| Gbp5 |
A |
G |
3: 142,213,518 (GRCm39) |
D478G |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,729,064 (GRCm39) |
M792V |
probably benign |
Het |
| Gpr152 |
T |
C |
19: 4,193,227 (GRCm39) |
L256P |
probably damaging |
Het |
| Greb1 |
C |
T |
12: 16,751,275 (GRCm39) |
M1006I |
probably benign |
Het |
| Gzf1 |
C |
T |
2: 148,530,011 (GRCm39) |
S514L |
probably damaging |
Het |
| Helz |
C |
A |
11: 107,560,874 (GRCm39) |
S1312* |
probably null |
Het |
| Hmcn1 |
T |
C |
1: 150,868,625 (GRCm39) |
I60V |
probably damaging |
Het |
| Ift81 |
A |
C |
5: 122,729,146 (GRCm39) |
D395E |
probably benign |
Het |
| Itfg1 |
T |
C |
8: 86,563,031 (GRCm39) |
N123S |
probably benign |
Het |
| Klk1b1 |
C |
A |
7: 43,618,739 (GRCm39) |
H39N |
possibly damaging |
Het |
| Klk1b24 |
A |
T |
7: 43,839,779 (GRCm39) |
N46I |
possibly damaging |
Het |
| Klrg2 |
C |
A |
6: 38,607,287 (GRCm39) |
W241L |
probably damaging |
Het |
| Lhx9 |
T |
C |
1: 138,774,934 (GRCm39) |
N3S |
probably benign |
Het |
| Lrrc2 |
A |
G |
9: 110,809,942 (GRCm39) |
D326G |
possibly damaging |
Het |
| Mansc1 |
A |
T |
6: 134,587,004 (GRCm39) |
L391Q |
probably damaging |
Het |
| Mcidas |
G |
A |
13: 113,135,453 (GRCm39) |
R292H |
probably benign |
Het |
| Ms4a19 |
T |
C |
19: 11,119,754 (GRCm39) |
T59A |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,251,294 (GRCm39) |
E1391G |
probably damaging |
Het |
| Or12d13 |
T |
A |
17: 37,648,057 (GRCm39) |
Q22L |
possibly damaging |
Het |
| Or14j7 |
T |
C |
17: 38,234,934 (GRCm39) |
F159S |
probably benign |
Het |
| Or4f53 |
C |
A |
2: 111,087,606 (GRCm39) |
L49I |
probably benign |
Het |
| Or4f53 |
T |
G |
2: 111,087,607 (GRCm39) |
L49R |
possibly damaging |
Het |
| Or8g26 |
T |
C |
9: 39,096,146 (GRCm39) |
I221T |
probably damaging |
Het |
| Or8k20 |
C |
T |
2: 86,106,150 (GRCm39) |
R227Q |
probably benign |
Het |
| Poc1b |
C |
T |
10: 98,965,356 (GRCm39) |
S95F |
probably benign |
Het |
| Pprc1 |
A |
G |
19: 46,049,998 (GRCm39) |
I104V |
unknown |
Het |
| Prkar1b |
C |
A |
5: 139,092,410 (GRCm39) |
V136L |
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,566,030 (GRCm39) |
I1351M |
probably damaging |
Het |
| Serpina3c |
G |
T |
12: 104,118,089 (GRCm39) |
A83D |
probably damaging |
Het |
| Slc23a3 |
ATT |
ATTT |
1: 75,109,925 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
G |
10: 5,318,190 (GRCm39) |
|
probably null |
Het |
| Ticrr |
A |
G |
7: 79,345,313 (GRCm39) |
E1726G |
probably damaging |
Het |
| Tmprss12 |
T |
C |
15: 100,190,529 (GRCm39) |
W300R |
probably damaging |
Het |
| Tnrc6c |
T |
A |
11: 117,623,136 (GRCm39) |
H892Q |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,903,987 (GRCm39) |
T1043A |
probably benign |
Het |
| Vps50 |
T |
A |
6: 3,519,218 (GRCm39) |
V100D |
probably damaging |
Het |
| Zim1 |
G |
C |
7: 6,680,771 (GRCm39) |
H297Q |
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 |
|
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 |
|
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'- TGAATCTCGATTATCGTCCCAGAG -3'
(R):5'- TGAAGTTCACAACCTTTGCG -3'
Sequencing Primer
(F):5'- AGTCAACGGCAAGTTCTCTTCTGAG -3'
(R):5'- CTTTGCGAAAGTAAATCCAGCAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation