Incidental Mutation 'R4830:Pirb'
ID |
372736 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pirb
|
Ensembl Gene |
ENSMUSG00000058818 |
Gene Name |
paired Ig-like receptor B |
Synonyms |
Lilrb3, Gp91 |
MMRRC Submission |
042446-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4830 (G1)
|
Quality Score |
131 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
3715504-3723381 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 3720602 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 299
(G299S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078451]
|
AlphaFold |
P97484 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000078451
AA Change: G299S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000077546 Gene: ENSMUSG00000058818 AA Change: G299S
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129493
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136238
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137474
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155131
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.5%
|
Validation Efficiency |
97% (71/73) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd3 |
C |
A |
3: 121,553,933 (GRCm39) |
G643V |
probably damaging |
Het |
Adamtsl1 |
A |
G |
4: 86,274,619 (GRCm39) |
E1225G |
probably damaging |
Het |
Agbl5 |
G |
A |
5: 31,048,059 (GRCm39) |
R111H |
probably damaging |
Het |
Ankle2 |
A |
C |
5: 110,389,879 (GRCm39) |
K446Q |
probably damaging |
Het |
Boc |
A |
C |
16: 44,310,520 (GRCm39) |
M800R |
probably damaging |
Het |
Ccnt1 |
A |
T |
15: 98,441,332 (GRCm39) |
N645K |
probably damaging |
Het |
Cd93 |
G |
A |
2: 148,285,299 (GRCm39) |
Q16* |
probably null |
Het |
Cpsf4l |
G |
T |
11: 113,600,328 (GRCm39) |
|
probably benign |
Het |
Cuzd1 |
T |
A |
7: 130,919,783 (GRCm39) |
D111V |
probably damaging |
Het |
Dab2 |
T |
C |
15: 6,457,008 (GRCm39) |
C232R |
probably benign |
Het |
Dmpk |
A |
T |
7: 18,821,453 (GRCm39) |
Y237F |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,021,745 (GRCm39) |
T3526S |
possibly damaging |
Het |
Dock2 |
T |
C |
11: 34,223,767 (GRCm39) |
|
probably null |
Het |
Dsp |
G |
A |
13: 38,376,840 (GRCm39) |
V1542I |
probably benign |
Het |
Dst |
T |
A |
1: 34,237,586 (GRCm39) |
|
probably null |
Het |
Esd |
T |
C |
14: 74,978,600 (GRCm39) |
L54S |
probably damaging |
Het |
Exd1 |
C |
T |
2: 119,350,807 (GRCm39) |
A485T |
probably benign |
Het |
Gm3604 |
A |
T |
13: 62,516,857 (GRCm39) |
N500K |
probably damaging |
Het |
Grhl2 |
T |
A |
15: 37,335,903 (GRCm39) |
|
probably null |
Het |
Gsto1 |
C |
T |
19: 47,852,830 (GRCm39) |
R222C |
probably benign |
Het |
Inpp4a |
T |
A |
1: 37,410,861 (GRCm39) |
M343K |
probably damaging |
Het |
Itpripl2 |
T |
C |
7: 118,090,280 (GRCm39) |
Q93R |
probably benign |
Het |
Jakmip2 |
G |
A |
18: 43,700,208 (GRCm39) |
T450I |
probably benign |
Het |
Kdm6b |
A |
T |
11: 69,294,620 (GRCm39) |
I1186N |
unknown |
Het |
Kif1a |
T |
C |
1: 92,948,931 (GRCm39) |
|
probably null |
Het |
Klhl20 |
T |
C |
1: 160,925,946 (GRCm39) |
K434R |
probably benign |
Het |
Lemd3 |
T |
C |
10: 120,767,853 (GRCm39) |
D697G |
probably damaging |
Het |
Lipo3 |
A |
G |
19: 33,753,987 (GRCm39) |
S383P |
probably damaging |
Het |
Ltn1 |
C |
A |
16: 87,176,582 (GRCm39) |
K1741N |
probably damaging |
Het |
Lvrn |
A |
T |
18: 47,038,418 (GRCm39) |
T991S |
probably damaging |
Het |
Macroh2a2 |
C |
T |
10: 61,575,132 (GRCm39) |
D355N |
possibly damaging |
Het |
Mast3 |
C |
A |
8: 71,241,559 (GRCm39) |
R151L |
possibly damaging |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
Myoz1 |
T |
C |
14: 20,705,377 (GRCm39) |
K14E |
probably damaging |
Het |
Neb |
G |
T |
2: 52,082,532 (GRCm39) |
Q5450K |
probably damaging |
Het |
Nedd1 |
T |
A |
10: 92,522,120 (GRCm39) |
N639I |
probably damaging |
Het |
Nlrp4e |
A |
T |
7: 23,036,165 (GRCm39) |
N673Y |
probably benign |
Het |
Nop53 |
C |
T |
7: 15,676,129 (GRCm39) |
R190Q |
probably damaging |
Het |
Notch4 |
T |
C |
17: 34,789,092 (GRCm39) |
Y468H |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,958,433 (GRCm39) |
T3507A |
probably damaging |
Het |
Opn5 |
T |
C |
17: 42,922,187 (GRCm39) |
H5R |
probably benign |
Het |
Or4l15 |
T |
C |
14: 50,197,681 (GRCm39) |
N283D |
probably damaging |
Het |
Patl1 |
T |
C |
19: 11,902,515 (GRCm39) |
M349T |
probably benign |
Het |
Phactr3 |
A |
G |
2: 177,925,811 (GRCm39) |
N362S |
probably damaging |
Het |
Rapgef5 |
G |
A |
12: 117,719,809 (GRCm39) |
R579Q |
probably damaging |
Het |
Rgl1 |
T |
C |
1: 152,430,081 (GRCm39) |
D234G |
probably benign |
Het |
Serpinb3a |
C |
T |
1: 106,976,316 (GRCm39) |
E122K |
probably benign |
Het |
Slc22a15 |
T |
C |
3: 101,782,919 (GRCm39) |
|
probably benign |
Het |
Slc25a12 |
A |
T |
2: 71,127,149 (GRCm39) |
V344E |
probably damaging |
Het |
Slc43a2 |
T |
C |
11: 75,434,119 (GRCm39) |
L99P |
probably damaging |
Het |
Smim27 |
G |
T |
4: 40,269,719 (GRCm39) |
|
probably null |
Het |
Smtn |
A |
G |
11: 3,470,736 (GRCm39) |
|
probably benign |
Het |
Szt2 |
A |
T |
4: 118,226,445 (GRCm39) |
Y3001N |
unknown |
Het |
Tgfbr3 |
G |
T |
5: 107,257,585 (GRCm39) |
P825T |
probably damaging |
Het |
Tnpo3 |
T |
C |
6: 29,568,937 (GRCm39) |
T472A |
probably benign |
Het |
Trf |
T |
A |
9: 103,105,114 (GRCm39) |
D66V |
probably damaging |
Het |
Vmn1r124 |
A |
G |
7: 20,993,624 (GRCm39) |
C307R |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,452,370 (GRCm39) |
F656Y |
possibly damaging |
Het |
Zic1 |
G |
T |
9: 91,244,584 (GRCm39) |
S358R |
probably 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 |
|
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 |
R6811:Pirb
|
UTSW |
7 |
3,722,641 (GRCm39) |
missense |
possibly damaging |
0.91 |
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 |
|
Posted On |
2016-03-01 |