Incidental Mutation 'IGL03191:Pilrb1'
| ID |
412640 |
| 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 # |
IGL03191
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
137850409-137856368 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 137853227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 192
(L192Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110978]
[ENSMUST00000196195]
[ENSMUST00000199387]
|
| AlphaFold |
Q2YFS2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110978
AA Change: L192Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106606
Gene: ENSMUSG00000066684
AA Change: L192Q
| 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 damaging
Transcript: ENSMUST00000199387
AA Change: L192Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143379
Gene: ENSMUSG00000066684
AA Change: L192Q
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
G |
1: 58,398,228 (GRCm39) |
D1323G |
probably null |
Het |
| Asxl2 |
A |
G |
12: 3,550,094 (GRCm39) |
D612G |
probably damaging |
Het |
| Cacna1c |
A |
T |
6: 118,718,864 (GRCm39) |
F395L |
probably damaging |
Het |
| Cct8 |
A |
G |
16: 87,283,198 (GRCm39) |
S380P |
probably damaging |
Het |
| Cltb |
T |
C |
13: 54,746,883 (GRCm39) |
E31G |
probably damaging |
Het |
| Cobl |
T |
C |
11: 12,203,364 (GRCm39) |
M1031V |
probably benign |
Het |
| Colgalt1 |
C |
A |
8: 72,075,731 (GRCm39) |
|
probably null |
Het |
| Dcstamp |
A |
G |
15: 39,617,620 (GRCm39) |
I10V |
probably benign |
Het |
| Diaph3 |
T |
C |
14: 87,310,738 (GRCm39) |
I138V |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,945,804 (GRCm39) |
V1827A |
probably damaging |
Het |
| Dpf1 |
T |
A |
7: 29,015,986 (GRCm39) |
|
probably benign |
Het |
| Dscam |
A |
T |
16: 96,621,969 (GRCm39) |
L494Q |
probably benign |
Het |
| Eif2ak4 |
C |
T |
2: 118,252,693 (GRCm39) |
H422Y |
probably damaging |
Het |
| Galnt10 |
T |
C |
11: 57,662,326 (GRCm39) |
V324A |
probably damaging |
Het |
| Hcfc1 |
T |
C |
X: 72,999,220 (GRCm39) |
I309V |
probably benign |
Het |
| Il24 |
T |
C |
1: 130,812,584 (GRCm39) |
T96A |
probably benign |
Het |
| Itga2 |
T |
C |
13: 114,973,020 (GRCm39) |
|
probably benign |
Het |
| Lrrc32 |
A |
G |
7: 98,147,454 (GRCm39) |
H78R |
possibly damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,909,707 (GRCm39) |
E2001G |
probably damaging |
Het |
| Lztr1 |
T |
A |
16: 17,336,392 (GRCm39) |
M199K |
probably damaging |
Het |
| Mcm8 |
A |
G |
2: 132,663,362 (GRCm39) |
Y160C |
possibly damaging |
Het |
| Msh4 |
G |
A |
3: 153,575,245 (GRCm39) |
T710M |
probably damaging |
Het |
| Pate8 |
T |
C |
9: 36,492,698 (GRCm39) |
D69G |
probably benign |
Het |
| Pim1 |
T |
A |
17: 29,712,693 (GRCm39) |
|
probably benign |
Het |
| Slc12a1 |
A |
T |
2: 125,048,009 (GRCm39) |
Q817L |
possibly damaging |
Het |
| Trip11 |
T |
C |
12: 101,865,184 (GRCm39) |
D163G |
probably damaging |
Het |
| Tsc2 |
A |
T |
17: 24,847,028 (GRCm39) |
V179E |
probably damaging |
Het |
| Zfp641 |
C |
T |
15: 98,186,568 (GRCm39) |
V352M |
probably damaging |
Het |
|
| Other mutations in Pilrb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02717:Pilrb1
|
APN |
5 |
137,856,213 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02989:Pilrb1
|
APN |
5 |
137,855,492 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
2016-08-02 |
Incidental Mutation