Incidental Mutation 'R1508:Prf1'
| ID |
168072 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prf1
|
| Ensembl Gene |
ENSMUSG00000037202 |
| Gene Name |
perforin 1 (pore forming protein) |
| Synonyms |
Pfp, Pfn, perforin, Prf-1 |
| MMRRC Submission |
040869-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1508 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
61133612-61140459 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61139329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 429
(D429G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035419]
[ENSMUST00000219375]
|
| AlphaFold |
P10820 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035419
AA Change: D429G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041483
Gene: ENSMUSG00000037202
AA Change: D429G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
MACPF
|
165 |
368 |
1.84e-80 |
SMART |
|
C2
|
415 |
516 |
1.59e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219375
AA Change: D429G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has structural and functional similarities to complement component 9 (C9). Like C9, this protein creates transmembrane tubules and is capable of lysing non-specifically a variety of target cells. This protein is one of the main cytolytic proteins of cytolytic granules, and it is known to be a key effector molecule for T-cell- and natural killer-cell-mediated cytolysis. Defects in this gene cause familial hemophagocytic lymphohistiocytosis type 2 (HPLH2), a rare and lethal autosomal recessive disorder of early childhood. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit increased susceptibility to viral infection and defective cytotoxic T cell cytolysis and NK cell cytolysis. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(7) : Targeted(7)
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl4 |
T |
C |
4: 111,513,595 (GRCm39) |
I447T |
probably benign |
Het |
| Albfm1 |
A |
G |
5: 90,729,780 (GRCm39) |
E401G |
probably benign |
Het |
| Alpk2 |
C |
A |
18: 65,482,376 (GRCm39) |
G544V |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,061,481 (GRCm39) |
I3321T |
possibly damaging |
Het |
| Ccdc47 |
C |
T |
11: 106,093,242 (GRCm39) |
D70N |
probably damaging |
Het |
| Ceacam13 |
T |
A |
7: 17,744,996 (GRCm39) |
V22D |
possibly damaging |
Het |
| Cep76 |
A |
G |
18: 67,756,358 (GRCm39) |
M491T |
probably damaging |
Het |
| Clec4a3 |
A |
T |
6: 122,944,467 (GRCm39) |
N171I |
probably benign |
Het |
| Col20a1 |
A |
G |
2: 180,634,370 (GRCm39) |
I112V |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,433,557 (GRCm39) |
L1462H |
unknown |
Het |
| Cubn |
A |
G |
2: 13,431,916 (GRCm39) |
F1226L |
probably benign |
Het |
| Cyp4a31 |
T |
A |
4: 115,422,250 (GRCm39) |
I77K |
possibly damaging |
Het |
| Dcaf1 |
A |
T |
9: 106,731,376 (GRCm39) |
T618S |
probably damaging |
Het |
| Echdc3 |
A |
T |
2: 6,211,231 (GRCm39) |
S129T |
probably benign |
Het |
| Efcab3 |
T |
C |
11: 104,601,503 (GRCm39) |
V272A |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,479,899 (GRCm39) |
F2982L |
probably benign |
Het |
| Gm9476 |
A |
T |
10: 100,142,700 (GRCm39) |
|
noncoding transcript |
Het |
| Golga1 |
A |
G |
2: 38,913,261 (GRCm39) |
M542T |
probably benign |
Het |
| H2-D1 |
T |
A |
17: 35,482,844 (GRCm39) |
C125S |
probably damaging |
Het |
| Jazf1 |
G |
A |
6: 52,789,166 (GRCm39) |
H103Y |
probably damaging |
Het |
| Klhl12 |
T |
C |
1: 134,416,712 (GRCm39) |
V478A |
possibly damaging |
Het |
| Lpcat2b |
A |
T |
5: 107,581,330 (GRCm39) |
T220S |
probably damaging |
Het |
| Myocd |
C |
T |
11: 65,075,342 (GRCm39) |
C594Y |
probably damaging |
Het |
| Nf1 |
A |
G |
11: 79,331,735 (GRCm39) |
E700G |
probably damaging |
Het |
| Or52z15 |
T |
C |
7: 103,332,678 (GRCm39) |
V251A |
possibly damaging |
Het |
| Or6k2 |
T |
A |
1: 173,986,930 (GRCm39) |
M197K |
possibly damaging |
Het |
| Papln |
A |
G |
12: 83,829,690 (GRCm39) |
Q937R |
probably damaging |
Het |
| Pex14 |
T |
C |
4: 149,052,029 (GRCm39) |
R147G |
probably damaging |
Het |
| Plppr3 |
A |
T |
10: 79,703,374 (GRCm39) |
Y37N |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,955,654 (GRCm39) |
T522A |
probably benign |
Het |
| Ppp3cb |
T |
C |
14: 20,574,492 (GRCm39) |
N201S |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 117,148,342 (GRCm39) |
S701P |
probably damaging |
Het |
| Rp1l1 |
C |
T |
14: 64,268,341 (GRCm39) |
T1309I |
possibly damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,487,667 (GRCm39) |
M1647K |
probably damaging |
Het |
| Skint11 |
T |
C |
4: 114,088,963 (GRCm39) |
|
probably null |
Het |
| Slc8a2 |
T |
C |
7: 15,874,522 (GRCm39) |
Y257H |
probably benign |
Het |
| Slfn1 |
T |
A |
11: 83,012,181 (GRCm39) |
I99N |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,349,591 (GRCm39) |
T282A |
probably damaging |
Het |
| Slit3 |
A |
T |
11: 35,461,448 (GRCm39) |
D228V |
probably damaging |
Het |
| Specc1l |
A |
G |
10: 75,143,072 (GRCm39) |
N1031S |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,107,029 (GRCm39) |
|
probably null |
Het |
| Tdrd1 |
G |
A |
19: 56,839,790 (GRCm39) |
E617K |
probably damaging |
Het |
| Tex15 |
C |
G |
8: 34,066,880 (GRCm39) |
F2103L |
probably damaging |
Het |
| Trim21 |
T |
A |
7: 102,208,783 (GRCm39) |
Q312L |
possibly damaging |
Het |
| Trim56 |
C |
T |
5: 137,142,791 (GRCm39) |
A242T |
probably benign |
Het |
| Usp4 |
T |
C |
9: 108,249,873 (GRCm39) |
V467A |
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,589,886 (GRCm39) |
I677L |
probably benign |
Het |
| Vstm4 |
T |
C |
14: 32,585,511 (GRCm39) |
V26A |
probably damaging |
Het |
| Zbtb14 |
C |
G |
17: 69,694,759 (GRCm39) |
I152M |
probably benign |
Het |
| Zfat |
T |
A |
15: 68,050,600 (GRCm39) |
K807I |
probably damaging |
Het |
|
| Other mutations in Prf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02970:Prf1
|
APN |
10 |
61,135,957 (GRCm39) |
missense |
probably benign |
|
|
prime
|
UTSW |
10 |
61,139,501 (GRCm39) |
nonsense |
probably null |
|
|
PIT4802001:Prf1
|
UTSW |
10 |
61,135,972 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0526:Prf1
|
UTSW |
10 |
61,136,033 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0594:Prf1
|
UTSW |
10 |
61,139,501 (GRCm39) |
nonsense |
probably null |
|
|
R1237:Prf1
|
UTSW |
10 |
61,139,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1553:Prf1
|
UTSW |
10 |
61,138,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1665:Prf1
|
UTSW |
10 |
61,138,666 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1716:Prf1
|
UTSW |
10 |
61,136,231 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1817:Prf1
|
UTSW |
10 |
61,138,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1818:Prf1
|
UTSW |
10 |
61,138,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2014:Prf1
|
UTSW |
10 |
61,139,674 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2307:Prf1
|
UTSW |
10 |
61,138,942 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2901:Prf1
|
UTSW |
10 |
61,136,098 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2902:Prf1
|
UTSW |
10 |
61,136,098 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4724:Prf1
|
UTSW |
10 |
61,139,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4781:Prf1
|
UTSW |
10 |
61,136,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5327:Prf1
|
UTSW |
10 |
61,136,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5850:Prf1
|
UTSW |
10 |
61,135,972 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5999:Prf1
|
UTSW |
10 |
61,138,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7356:Prf1
|
UTSW |
10 |
61,139,059 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7508:Prf1
|
UTSW |
10 |
61,135,934 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7714:Prf1
|
UTSW |
10 |
61,135,934 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7716:Prf1
|
UTSW |
10 |
61,135,934 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8162:Prf1
|
UTSW |
10 |
61,138,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8749:Prf1
|
UTSW |
10 |
61,138,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9170:Prf1
|
UTSW |
10 |
61,136,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Prf1
|
UTSW |
10 |
61,139,619 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCCCTGCACACATTACTGGAAG -3'
(R):5'- AAGGTCATCATCCCAGCCGTAGTC -3'
Sequencing Primer
(F):5'- AGGCTCTGAGACAGGCTATC -3'
(R):5'- TAGTCGGCATCCCAGACC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation