Incidental Mutation 'R6811:Pirb'
| ID |
533802 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pirb
|
| Ensembl Gene |
ENSMUSG00000058818 |
| Gene Name |
paired Ig-like receptor B |
| Synonyms |
Lilrb3, Gp91 |
| MMRRC Submission |
045018-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6811 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
3715504-3723381 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3722641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 117
(V117E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078451]
|
| AlphaFold |
P97484 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078451
AA Change: V117E
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000077546
Gene: ENSMUSG00000058818
AA Change: V117E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IG
|
34 |
118 |
1.8e-3 |
SMART |
|
IG
|
129 |
315 |
1.2e-4 |
SMART |
|
IG_like
|
237 |
302 |
6.2e-4 |
SMART |
|
IG_like
|
328 |
415 |
3.4e-2 |
SMART |
|
IG_like
|
435 |
502 |
1e-2 |
SMART |
|
IG
|
529 |
618 |
3.6e-5 |
SMART |
|
low complexity region
|
624 |
637 |
N/A |
INTRINSIC |
|
transmembrane domain
|
641 |
663 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.1%
- 20x: 97.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions of this gene display abnormalities in both B and T lymphocytes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
C |
15: 74,401,210 (GRCm39) |
S69P |
probably damaging |
Het |
| Alkbh7 |
G |
T |
17: 57,304,392 (GRCm39) |
R10L |
probably benign |
Het |
| Ano3 |
T |
C |
2: 110,711,212 (GRCm39) |
E84G |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,655,968 (GRCm39) |
E1326G |
possibly damaging |
Het |
| Atrnl1 |
T |
G |
19: 57,643,393 (GRCm39) |
M427R |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,386,739 (GRCm39) |
E1847G |
probably benign |
Het |
| Csf1r |
T |
C |
18: 61,252,125 (GRCm39) |
Y536H |
probably damaging |
Het |
| Dnm3 |
T |
C |
1: 162,148,652 (GRCm39) |
K240E |
probably damaging |
Het |
| Dsc1 |
T |
G |
18: 20,222,711 (GRCm39) |
E587A |
probably benign |
Het |
| Gm19410 |
C |
A |
8: 36,239,733 (GRCm39) |
A143E |
probably damaging |
Het |
| Gm19965 |
G |
T |
1: 116,731,809 (GRCm39) |
L38F |
probably damaging |
Het |
| Helz |
T |
C |
11: 107,510,144 (GRCm39) |
|
probably null |
Het |
| Herc2 |
C |
T |
7: 55,763,181 (GRCm39) |
R929* |
probably null |
Het |
| Iqcn |
T |
C |
8: 71,169,422 (GRCm39) |
S1171P |
probably benign |
Het |
| Krt31 |
A |
G |
11: 99,939,242 (GRCm39) |
L225P |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,605,512 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
A |
G |
2: 41,339,206 (GRCm39) |
V765A |
probably benign |
Het |
| Lsm5 |
A |
G |
6: 56,679,127 (GRCm39) |
I34T |
possibly damaging |
Het |
| Ly6g6c |
T |
C |
17: 35,288,386 (GRCm39) |
L86P |
probably damaging |
Het |
| Meak7 |
A |
T |
8: 120,495,029 (GRCm39) |
I243N |
possibly damaging |
Het |
| Megf11 |
A |
G |
9: 64,451,923 (GRCm39) |
T116A |
probably damaging |
Het |
| Megf6 |
T |
C |
4: 154,336,618 (GRCm39) |
C190R |
probably damaging |
Het |
| Mroh9 |
A |
G |
1: 162,873,610 (GRCm39) |
V515A |
possibly damaging |
Het |
| Mtbp |
C |
A |
15: 55,469,942 (GRCm39) |
|
probably null |
Het |
| Myo9b |
T |
A |
8: 71,809,222 (GRCm39) |
F1810L |
probably damaging |
Het |
| Nacad |
T |
G |
11: 6,549,400 (GRCm39) |
K180Q |
possibly damaging |
Het |
| Ncf2 |
G |
A |
1: 152,711,791 (GRCm39) |
V502I |
probably benign |
Het |
| Npsr1 |
T |
A |
9: 24,046,105 (GRCm39) |
C75S |
probably benign |
Het |
| Oog3 |
T |
C |
4: 143,886,152 (GRCm39) |
T149A |
probably benign |
Het |
| Pank1 |
T |
A |
19: 34,818,422 (GRCm39) |
Q39L |
probably benign |
Het |
| Pdx1 |
T |
C |
5: 147,211,474 (GRCm39) |
S232P |
possibly damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Ppl |
G |
A |
16: 4,907,008 (GRCm39) |
L1096F |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,706,917 (GRCm39) |
Y2223* |
probably null |
Het |
| Slc16a4 |
A |
G |
3: 107,206,233 (GRCm39) |
Y101C |
probably benign |
Het |
| Slc17a3 |
A |
T |
13: 24,039,924 (GRCm39) |
I321F |
possibly damaging |
Het |
| Sufu |
T |
A |
19: 46,438,317 (GRCm39) |
D168E |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Vmn1r237 |
T |
G |
17: 21,534,648 (GRCm39) |
S124A |
probably benign |
Het |
| Vmn2r60 |
T |
A |
7: 41,844,310 (GRCm39) |
C558S |
probably damaging |
Het |
| Vwa5b1 |
G |
A |
4: 138,319,414 (GRCm39) |
T414I |
probably benign |
Het |
| Zbtb47 |
T |
C |
9: 121,595,595 (GRCm39) |
S573P |
probably damaging |
Het |
| Zfp971 |
T |
G |
2: 177,675,674 (GRCm39) |
C424W |
possibly damaging |
Het |
|
| Other mutations in Pirb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01295:Pirb
|
APN |
7 |
3,720,405 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01744:Pirb
|
APN |
7 |
3,720,175 (GRCm39) |
nonsense |
probably null |
|
|
IGL01755:Pirb
|
APN |
7 |
3,720,169 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02580:Pirb
|
APN |
7 |
3,717,205 (GRCm39) |
splice site |
probably null |
|
|
IGL02941:Pirb
|
APN |
7 |
3,720,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0394:Pirb
|
UTSW |
7 |
3,722,247 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0680:Pirb
|
UTSW |
7 |
3,720,360 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0787:Pirb
|
UTSW |
7 |
3,720,637 (GRCm39) |
missense |
probably benign |
|
|
R0790:Pirb
|
UTSW |
7 |
3,720,637 (GRCm39) |
missense |
probably benign |
|
|
R0832:Pirb
|
UTSW |
7 |
3,720,637 (GRCm39) |
missense |
probably benign |
|
|
R1124:Pirb
|
UTSW |
7 |
3,722,731 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1178:Pirb
|
UTSW |
7 |
3,720,637 (GRCm39) |
missense |
probably benign |
|
|
R1180:Pirb
|
UTSW |
7 |
3,720,637 (GRCm39) |
missense |
probably benign |
|
|
R1181:Pirb
|
UTSW |
7 |
3,720,637 (GRCm39) |
missense |
probably benign |
|
|
R1281:Pirb
|
UTSW |
7 |
3,720,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1343:Pirb
|
UTSW |
7 |
3,720,637 (GRCm39) |
missense |
probably benign |
|
|
R1579:Pirb
|
UTSW |
7 |
3,720,637 (GRCm39) |
missense |
probably benign |
|
|
R1699:Pirb
|
UTSW |
7 |
3,720,637 (GRCm39) |
missense |
probably benign |
|
|
R1768:Pirb
|
UTSW |
7 |
3,720,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1909:Pirb
|
UTSW |
7 |
3,717,587 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1965:Pirb
|
UTSW |
7 |
3,720,637 (GRCm39) |
missense |
probably benign |
|
|
R1966:Pirb
|
UTSW |
7 |
3,720,637 (GRCm39) |
missense |
probably benign |
|
|
R2004:Pirb
|
UTSW |
7 |
3,720,637 (GRCm39) |
missense |
probably benign |
|
|
R2305:Pirb
|
UTSW |
7 |
3,715,990 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2931:Pirb
|
UTSW |
7 |
3,720,205 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3858:Pirb
|
UTSW |
7 |
3,720,662 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R3928:Pirb
|
UTSW |
7 |
3,720,637 (GRCm39) |
missense |
probably benign |
|
|
R3938:Pirb
|
UTSW |
7 |
3,720,637 (GRCm39) |
missense |
probably benign |
|
|
R4119:Pirb
|
UTSW |
7 |
3,720,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4174:Pirb
|
UTSW |
7 |
3,719,031 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4248:Pirb
|
UTSW |
7 |
3,722,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4827:Pirb
|
UTSW |
7 |
3,720,602 (GRCm39) |
missense |
probably benign |
|
|
R4828:Pirb
|
UTSW |
7 |
3,720,602 (GRCm39) |
missense |
probably benign |
|
|
R4829:Pirb
|
UTSW |
7 |
3,720,602 (GRCm39) |
missense |
probably benign |
|
|
R4830:Pirb
|
UTSW |
7 |
3,720,602 (GRCm39) |
missense |
probably benign |
|
|
R4870:Pirb
|
UTSW |
7 |
3,715,661 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4909:Pirb
|
UTSW |
7 |
3,722,361 (GRCm39) |
nonsense |
probably null |
|
|
R5146:Pirb
|
UTSW |
7 |
3,715,620 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5244:Pirb
|
UTSW |
7 |
3,719,062 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5323:Pirb
|
UTSW |
7 |
3,719,598 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5921:Pirb
|
UTSW |
7 |
3,719,693 (GRCm39) |
nonsense |
probably null |
|
|
R6316:Pirb
|
UTSW |
7 |
3,720,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6502:Pirb
|
UTSW |
7 |
3,720,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7216:Pirb
|
UTSW |
7 |
3,719,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7275:Pirb
|
UTSW |
7 |
3,719,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7327:Pirb
|
UTSW |
7 |
3,720,187 (GRCm39) |
nonsense |
probably null |
|
|
R7582:Pirb
|
UTSW |
7 |
3,716,817 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7717:Pirb
|
UTSW |
7 |
3,720,800 (GRCm39) |
missense |
not run |
|
|
R7717:Pirb
|
UTSW |
7 |
3,720,782 (GRCm39) |
missense |
not run |
|
|
R7807:Pirb
|
UTSW |
7 |
3,722,864 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7844:Pirb
|
UTSW |
7 |
3,722,410 (GRCm39) |
nonsense |
probably null |
|
|
R7947:Pirb
|
UTSW |
7 |
3,722,857 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8206:Pirb
|
UTSW |
7 |
3,715,905 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8397:Pirb
|
UTSW |
7 |
3,719,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774:Pirb
|
UTSW |
7 |
3,720,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774-TAIL:Pirb
|
UTSW |
7 |
3,720,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9033:Pirb
|
UTSW |
7 |
3,720,584 (GRCm39) |
missense |
probably benign |
|
|
R9275:Pirb
|
UTSW |
7 |
3,719,859 (GRCm39) |
missense |
probably benign |
|
|
R9452:Pirb
|
UTSW |
7 |
3,720,617 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9595:Pirb
|
UTSW |
7 |
3,722,406 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9605:Pirb
|
UTSW |
7 |
3,720,617 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9607:Pirb
|
UTSW |
7 |
3,720,617 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
X0025:Pirb
|
UTSW |
7 |
3,720,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCTGAAGTTACCACAGGG -3'
(R):5'- TTGGAGCCAATGAGTACCGC -3'
Sequencing Primer
(F):5'- TGAAGTTACCACAGGGCTGGC -3'
(R):5'- TGAGTACCGCCTCTATAAAGATGG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation