Incidental Mutation 'R2307:Prf1'
| ID |
244642 |
| 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 |
040306-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2307 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
61133612-61140459 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61138942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 300
(V300A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035419]
[ENSMUST00000219375]
|
| AlphaFold |
P10820 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035419
AA Change: V300A
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000041483
Gene: ENSMUSG00000037202
AA Change: V300A
| 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 |
possibly damaging
Transcript: ENSMUST00000219375
AA Change: V300A
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.9%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
T |
C |
12: 84,122,375 (GRCm39) |
F320L |
possibly damaging |
Het |
| Alox12e |
T |
C |
11: 70,212,087 (GRCm39) |
K170R |
probably damaging |
Het |
| Ano2 |
T |
C |
6: 125,969,849 (GRCm39) |
S722P |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,946,970 (GRCm39) |
Y215C |
probably benign |
Het |
| Ces2g |
A |
G |
8: 105,695,044 (GRCm39) |
N555S |
probably benign |
Het |
| Cfap58 |
C |
T |
19: 47,950,925 (GRCm39) |
Q429* |
probably null |
Het |
| Clcnkb |
A |
G |
4: 141,139,640 (GRCm39) |
S121P |
probably damaging |
Het |
| Cltb |
T |
A |
13: 54,746,564 (GRCm39) |
E67D |
probably damaging |
Het |
| Ddhd1 |
A |
T |
14: 45,846,447 (GRCm39) |
L581Q |
probably damaging |
Het |
| Dnajc3 |
T |
C |
14: 119,190,633 (GRCm39) |
|
probably null |
Het |
| Fgf14 |
T |
A |
14: 124,221,234 (GRCm39) |
N190I |
probably damaging |
Het |
| Galnt17 |
T |
G |
5: 130,929,460 (GRCm39) |
Y449S |
probably damaging |
Het |
| Grin3a |
C |
T |
4: 49,793,033 (GRCm39) |
|
probably null |
Het |
| Gxylt2 |
A |
G |
6: 100,764,173 (GRCm39) |
N286S |
probably damaging |
Het |
| H2-K2 |
A |
G |
17: 34,216,113 (GRCm39) |
V120A |
probably benign |
Het |
| Inpp5f |
T |
C |
7: 128,296,034 (GRCm39) |
V168A |
probably damaging |
Het |
| Kif1a |
G |
T |
1: 93,006,491 (GRCm39) |
H59N |
probably damaging |
Het |
| Krt24 |
T |
C |
11: 99,175,456 (GRCm39) |
Q193R |
possibly damaging |
Het |
| Krtap5-4 |
C |
A |
7: 141,857,351 (GRCm39) |
S7* |
probably null |
Het |
| Ltn1 |
A |
G |
16: 87,229,312 (GRCm39) |
|
probably null |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mep1b |
A |
T |
18: 21,221,632 (GRCm39) |
D194V |
probably damaging |
Het |
| Mettl25b |
A |
T |
3: 87,834,162 (GRCm39) |
M171K |
possibly damaging |
Het |
| Orc3 |
C |
T |
4: 34,586,503 (GRCm39) |
V382M |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,728,665 (GRCm39) |
|
probably benign |
Het |
| Pcolce |
T |
C |
5: 137,607,356 (GRCm39) |
H45R |
probably damaging |
Het |
| Prorp |
T |
C |
12: 55,351,101 (GRCm39) |
F137L |
probably damaging |
Het |
| Prss53 |
T |
C |
7: 127,490,037 (GRCm39) |
I18V |
probably benign |
Het |
| Rnase2b |
A |
G |
14: 51,400,188 (GRCm39) |
T90A |
probably benign |
Het |
| Rpap1 |
G |
A |
2: 119,614,247 (GRCm39) |
P50L |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sec16b |
G |
A |
1: 157,363,062 (GRCm39) |
V298I |
probably damaging |
Het |
| Smarcd3 |
C |
T |
5: 24,800,746 (GRCm39) |
R156Q |
probably damaging |
Het |
| St6galnac2 |
C |
T |
11: 116,572,731 (GRCm39) |
A242T |
probably damaging |
Het |
| Syce1l |
T |
C |
8: 114,369,937 (GRCm39) |
|
probably null |
Het |
| Tcam1 |
T |
C |
11: 106,174,940 (GRCm39) |
C132R |
probably damaging |
Het |
| Trpa1 |
T |
C |
1: 14,982,605 (GRCm39) |
I84V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,717,342 (GRCm39) |
R455* |
probably null |
Het |
| Ubl5 |
T |
A |
9: 20,557,876 (GRCm39) |
|
probably benign |
Het |
| Ubr2 |
T |
A |
17: 47,277,141 (GRCm39) |
K779* |
probably null |
Het |
| Ugt1a10 |
A |
G |
1: 87,983,669 (GRCm39) |
I156V |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,239,854 (GRCm39) |
T3513A |
probably damaging |
Het |
| Vmn1r20 |
C |
T |
6: 57,409,121 (GRCm39) |
T149I |
probably benign |
Het |
| Zfp804a |
T |
A |
2: 82,087,201 (GRCm39) |
D343E |
probably benign |
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 |
|
R1508:Prf1
|
UTSW |
10 |
61,139,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TTTATCACGGCTGTGGACCTC -3'
(R):5'- TGATAGCCTGTCTCAGAGCCTC -3'
Sequencing Primer
(F):5'- GTACCTGTCAGCTGACCCTGAATG -3'
(R):5'- GCTGTCCAGGTTGAGAA -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation