Incidental Mutation 'IGL02717:Pilrb1'
| ID |
304827 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pilrb1
|
| Ensembl Gene |
ENSMUSG00000066684 |
| Gene Name |
paired immunoglobin-like type 2 receptor beta 1 |
| Synonyms |
Pilrb, Fdact |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
IGL02717
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
137850409-137856368 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
G to A
at 137856213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110978]
[ENSMUST00000196195]
[ENSMUST00000199387]
|
| AlphaFold |
Q2YFS2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110978
|
| SMART Domains |
Protein: ENSMUSP00000106606
Gene: ENSMUSG00000066684
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IG
|
45 |
156 |
3e-68 |
BLAST |
|
Blast:IG_like
|
192 |
221 |
7e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196195
|
| SMART Domains |
Protein: ENSMUSP00000143777
Gene: ENSMUSG00000066684
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196787
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197403
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197914
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198703
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199387
|
| SMART Domains |
Protein: ENSMUSP00000143379
Gene: ENSMUSG00000066684
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IG
|
45 |
156 |
4e-68 |
BLAST |
|
Blast:IG_like
|
192 |
221 |
8e-6 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased susceptiblity to bacterial infection with S. aureus with decreased worm burden and mortality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd4 |
G |
A |
14: 54,499,079 (GRCm39) |
|
probably benign |
Het |
| Adgra1 |
A |
T |
7: 139,456,094 (GRCm39) |
N574I |
probably damaging |
Het |
| Agbl2 |
C |
T |
2: 90,636,212 (GRCm39) |
R583W |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,979,751 (GRCm39) |
D345G |
probably benign |
Het |
| Alpk1 |
T |
A |
3: 127,474,749 (GRCm39) |
H418L |
possibly damaging |
Het |
| B4gat1 |
C |
A |
19: 5,088,997 (GRCm39) |
|
probably benign |
Het |
| Cdh18 |
A |
T |
15: 23,410,801 (GRCm39) |
R429* |
probably null |
Het |
| Chd1l |
T |
C |
3: 97,491,223 (GRCm39) |
N423S |
probably damaging |
Het |
| Eef1a2 |
A |
C |
2: 180,794,694 (GRCm39) |
D168E |
probably benign |
Het |
| Eif4g2 |
A |
G |
7: 110,677,320 (GRCm39) |
I205T |
probably benign |
Het |
| Fam227b |
T |
C |
2: 125,845,763 (GRCm39) |
I409V |
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,781,370 (GRCm39) |
|
probably benign |
Het |
| Hadh |
T |
C |
3: 131,043,559 (GRCm39) |
T52A |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,279,203 (GRCm39) |
L37* |
probably null |
Het |
| Hoxc4 |
A |
G |
15: 102,943,273 (GRCm39) |
E42G |
possibly damaging |
Het |
| Ifna16 |
T |
C |
4: 88,594,777 (GRCm39) |
D106G |
possibly damaging |
Het |
| Iqgap3 |
C |
A |
3: 88,005,666 (GRCm39) |
T498K |
probably benign |
Het |
| Kmt2b |
G |
A |
7: 30,282,869 (GRCm39) |
T1031M |
probably damaging |
Het |
| Or11j4 |
G |
T |
14: 50,631,104 (GRCm39) |
R297L |
probably damaging |
Het |
| Or5g23 |
A |
T |
2: 85,439,116 (GRCm39) |
I46N |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,843,102 (GRCm39) |
V212E |
probably damaging |
Het |
| Ppp4r3b |
A |
G |
11: 29,123,315 (GRCm39) |
T4A |
probably benign |
Het |
| Saxo5 |
C |
T |
8: 3,536,970 (GRCm39) |
R439C |
probably damaging |
Het |
| Scn5a |
T |
A |
9: 119,358,076 (GRCm39) |
T722S |
probably benign |
Het |
| Slc7a4 |
C |
T |
16: 17,392,439 (GRCm39) |
V332I |
possibly damaging |
Het |
| Taar7b |
T |
C |
10: 23,876,258 (GRCm39) |
I141T |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,833,601 (GRCm39) |
Y104C |
probably damaging |
Het |
|
| Other mutations in Pilrb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02989:Pilrb1
|
APN |
5 |
137,855,492 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03191:Pilrb1
|
APN |
5 |
137,853,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0320:Pilrb1
|
UTSW |
5 |
137,853,260 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2048:Pilrb1
|
UTSW |
5 |
137,853,153 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3113:Pilrb1
|
UTSW |
5 |
137,853,195 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3946:Pilrb1
|
UTSW |
5 |
137,855,654 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4768:Pilrb1
|
UTSW |
5 |
137,855,788 (GRCm39) |
unclassified |
probably benign |
|
|
R5252:Pilrb1
|
UTSW |
5 |
137,853,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5334:Pilrb1
|
UTSW |
5 |
137,853,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6658:Pilrb1
|
UTSW |
5 |
137,855,789 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9179:Pilrb1
|
UTSW |
5 |
137,855,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9421:Pilrb1
|
UTSW |
5 |
137,853,296 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation