Incidental Mutation 'R2438:Pilrb2'
| ID |
249698 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pilrb2
|
| Ensembl Gene |
ENSMUSG00000066682 |
| Gene Name |
paired immunoglobin-like type 2 receptor beta 2 |
| Synonyms |
EG545812 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R2438 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
137864089-137870077 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 137869175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 142
(I142L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164886]
[ENSMUST00000196162]
[ENSMUST00000199773]
|
| AlphaFold |
Q2YFS1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164886
AA Change: I142L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000131233
Gene: ENSMUSG00000066682
AA Change: I142L
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
45 |
156 |
2.38e0 |
SMART |
|
Blast:IG_like
|
192 |
221 |
3e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196162
AA Change: I142L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000143064
Gene: ENSMUSG00000066682
AA Change: I142L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
IG
|
45 |
156 |
9.7e-3 |
SMART |
|
Blast:IG_like
|
192 |
221 |
3e-6 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197411
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197672
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198024
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000199247
AA Change: I58L
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199773
|
| SMART Domains |
Protein: ENSMUSP00000142492
Gene: ENSMUSG00000066682
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200060
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
G |
16: 30,936,133 (GRCm39) |
V318A |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cd8b1 |
A |
G |
6: 71,306,740 (GRCm39) |
K156E |
probably damaging |
Het |
| Ckap5 |
T |
C |
2: 91,425,753 (GRCm39) |
M1262T |
possibly damaging |
Het |
| Crebbp |
A |
G |
16: 3,972,722 (GRCm39) |
M324T |
possibly damaging |
Het |
| Cwf19l1 |
G |
A |
19: 44,099,002 (GRCm39) |
R523C |
probably benign |
Het |
| Defb21 |
A |
T |
2: 152,416,695 (GRCm39) |
Y57F |
possibly damaging |
Het |
| Ebf2 |
T |
A |
14: 67,625,391 (GRCm39) |
V233D |
probably damaging |
Het |
| Gfpt1 |
A |
T |
6: 87,034,727 (GRCm39) |
E175V |
probably null |
Het |
| Gga1 |
T |
C |
15: 78,769,498 (GRCm39) |
F157S |
probably damaging |
Het |
| Impdh2 |
A |
T |
9: 108,437,815 (GRCm39) |
D28V |
probably benign |
Het |
| Itgav |
A |
G |
2: 83,606,886 (GRCm39) |
D409G |
probably damaging |
Het |
| Krt5 |
T |
C |
15: 101,620,093 (GRCm39) |
N208S |
probably benign |
Het |
| Matcap2 |
T |
C |
9: 22,342,979 (GRCm39) |
V291A |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,373,878 (GRCm39) |
I1242F |
probably damaging |
Het |
| Myo1g |
A |
T |
11: 6,461,542 (GRCm39) |
N636K |
probably damaging |
Het |
| Nrros |
T |
C |
16: 31,962,929 (GRCm39) |
|
probably null |
Het |
| Nrros |
C |
T |
16: 31,963,117 (GRCm39) |
G264D |
probably benign |
Het |
| Nsun4 |
A |
G |
4: 115,905,794 (GRCm39) |
V54A |
probably benign |
Het |
| Or4k49 |
A |
T |
2: 111,495,096 (GRCm39) |
D175V |
probably damaging |
Het |
| Or5b105 |
A |
T |
19: 13,079,785 (GRCm39) |
D294E |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,816,734 (GRCm39) |
S596P |
probably damaging |
Het |
| Sema5a |
G |
T |
15: 32,550,399 (GRCm39) |
S146I |
possibly damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc43a2 |
A |
T |
11: 75,453,957 (GRCm39) |
E290V |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Zfp456 |
A |
T |
13: 67,515,073 (GRCm39) |
I211N |
probably damaging |
Het |
|
| Other mutations in Pilrb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02271:Pilrb2
|
APN |
5 |
137,865,125 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0220:Pilrb2
|
UTSW |
5 |
137,869,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1126:Pilrb2
|
UTSW |
5 |
137,869,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:Pilrb2
|
UTSW |
5 |
137,866,859 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1623:Pilrb2
|
UTSW |
5 |
137,869,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5343:Pilrb2
|
UTSW |
5 |
137,869,228 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6792:Pilrb2
|
UTSW |
5 |
137,866,852 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6974:Pilrb2
|
UTSW |
5 |
137,870,049 (GRCm39) |
start gained |
probably benign |
|
|
R7209:Pilrb2
|
UTSW |
5 |
137,869,126 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8124:Pilrb2
|
UTSW |
5 |
137,869,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9425:Pilrb2
|
UTSW |
5 |
137,866,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9446:Pilrb2
|
UTSW |
5 |
137,869,429 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9508:Pilrb2
|
UTSW |
5 |
137,869,261 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGGTATGGGCAGTTCCAAG -3'
(R):5'- CTGGAAGTTAGCCAAGGATCC -3'
Sequencing Primer
(F):5'- TTCCAAGGGAAATGAATATGAAAGG -3'
(R):5'- TCCACAGATGAGCATAGCCTGG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation