Incidental Mutation 'IGL01295:Pirb'
| ID |
73057 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pirb
|
| Ensembl Gene |
ENSMUSG00000058818 |
| Gene Name |
paired Ig-like receptor B |
| Synonyms |
Lilrb3, Gp91 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01295
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
3715504-3723381 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 3720405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 323
(P323S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078451]
|
| AlphaFold |
P97484 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078451
AA Change: P323S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000077546
Gene: ENSMUSG00000058818
AA Change: P323S
| 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 |
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
G |
T |
14: 32,383,893 (GRCm39) |
L691I |
possibly damaging |
Het |
| Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
| Apol10b |
A |
T |
15: 77,469,796 (GRCm39) |
V127E |
probably damaging |
Het |
| Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
| Atn1 |
T |
C |
6: 124,726,239 (GRCm39) |
E80G |
probably damaging |
Het |
| Carmil2 |
T |
C |
8: 106,422,148 (GRCm39) |
M1139T |
probably benign |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Celf5 |
G |
T |
10: 81,302,914 (GRCm39) |
|
probably benign |
Het |
| Chd6 |
G |
A |
2: 160,830,290 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,551,208 (GRCm39) |
V2136E |
probably damaging |
Het |
| Col4a1 |
G |
T |
8: 11,286,075 (GRCm39) |
|
probably benign |
Het |
| Dph1 |
A |
G |
11: 75,071,775 (GRCm39) |
|
probably benign |
Het |
| Dvl2 |
G |
T |
11: 69,900,410 (GRCm39) |
V735F |
possibly damaging |
Het |
| Eif3b |
A |
G |
5: 140,427,495 (GRCm39) |
I709V |
possibly damaging |
Het |
| Elp5 |
C |
T |
11: 69,859,296 (GRCm39) |
|
probably benign |
Het |
| Exd1 |
A |
T |
2: 119,360,560 (GRCm39) |
|
probably benign |
Het |
| Fbxl4 |
C |
A |
4: 22,427,348 (GRCm39) |
R530S |
probably benign |
Het |
| Fmo4 |
A |
T |
1: 162,626,693 (GRCm39) |
D284E |
probably damaging |
Het |
| Fn3krp |
A |
G |
11: 121,312,380 (GRCm39) |
Y31C |
probably damaging |
Het |
| Galnt14 |
G |
T |
17: 73,811,914 (GRCm39) |
Q436K |
probably benign |
Het |
| Gm5114 |
A |
T |
7: 39,057,241 (GRCm39) |
W793R |
probably damaging |
Het |
| Gm9376 |
T |
G |
14: 118,505,059 (GRCm39) |
S164A |
possibly damaging |
Het |
| Gtf2ird2 |
G |
A |
5: 134,221,603 (GRCm39) |
D69N |
probably damaging |
Het |
| Hfm1 |
A |
C |
5: 107,065,472 (GRCm39) |
M69R |
possibly damaging |
Het |
| Ighv9-1 |
A |
C |
12: 114,057,619 (GRCm39) |
S94A |
probably damaging |
Het |
| Ikzf2 |
C |
T |
1: 69,617,146 (GRCm39) |
R67H |
probably benign |
Het |
| Ipcef1 |
A |
T |
10: 6,850,642 (GRCm39) |
F316L |
probably damaging |
Het |
| Kdsr |
A |
G |
1: 106,683,187 (GRCm39) |
V62A |
possibly damaging |
Het |
| Kif23 |
A |
T |
9: 61,839,411 (GRCm39) |
C279S |
possibly damaging |
Het |
| Klf5 |
C |
T |
14: 99,539,157 (GRCm39) |
T110I |
probably benign |
Het |
| Klhl25 |
T |
A |
7: 75,515,620 (GRCm39) |
H175Q |
probably benign |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Nfatc4 |
T |
C |
14: 56,069,962 (GRCm39) |
V710A |
probably benign |
Het |
| Optn |
G |
A |
2: 5,037,967 (GRCm39) |
T409I |
possibly damaging |
Het |
| Or10j3b |
A |
T |
1: 173,043,440 (GRCm39) |
Y74F |
probably damaging |
Het |
| Or52a5 |
C |
T |
7: 103,427,448 (GRCm39) |
V35I |
probably benign |
Het |
| Pabpc2 |
T |
A |
18: 39,907,082 (GRCm39) |
Y116N |
probably damaging |
Het |
| Pafah1b1 |
G |
T |
11: 74,574,473 (GRCm39) |
R238S |
probably damaging |
Het |
| Pdzd9 |
C |
T |
7: 120,267,618 (GRCm39) |
G66R |
probably damaging |
Het |
| Pih1d1 |
T |
C |
7: 44,809,388 (GRCm39) |
L285P |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,883,685 (GRCm39) |
F396L |
possibly damaging |
Het |
| Pla2g4d |
G |
A |
2: 120,112,207 (GRCm39) |
T108M |
probably damaging |
Het |
| Plin3 |
T |
C |
17: 56,586,814 (GRCm39) |
Y411C |
probably damaging |
Het |
| Ppfibp2 |
T |
C |
7: 107,346,746 (GRCm39) |
|
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,510,061 (GRCm39) |
S995G |
probably damaging |
Het |
| Ptf1a |
T |
C |
2: 19,451,429 (GRCm39) |
I253T |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,198,553 (GRCm39) |
I1684V |
probably benign |
Het |
| Ptprk |
G |
A |
10: 28,351,174 (GRCm39) |
V556I |
probably benign |
Het |
| Rffl |
A |
T |
11: 82,709,283 (GRCm39) |
C47S |
probably damaging |
Het |
| Rnf17 |
C |
T |
14: 56,700,521 (GRCm39) |
Q569* |
probably null |
Het |
| Shprh |
A |
G |
10: 11,059,612 (GRCm39) |
E1121G |
probably damaging |
Het |
| Slc1a5 |
A |
G |
7: 16,529,787 (GRCm39) |
D402G |
probably damaging |
Het |
| Slc24a3 |
G |
A |
2: 145,458,634 (GRCm39) |
|
probably null |
Het |
| Slc2a13 |
T |
A |
15: 91,234,335 (GRCm39) |
|
probably null |
Het |
| Slc30a8 |
A |
T |
15: 52,169,955 (GRCm39) |
N61Y |
possibly damaging |
Het |
| Slitrk6 |
A |
T |
14: 110,988,868 (GRCm39) |
S280T |
possibly damaging |
Het |
| Smad2 |
G |
A |
18: 76,435,501 (GRCm39) |
A365T |
probably benign |
Het |
| Tcp10b |
C |
T |
17: 13,299,047 (GRCm39) |
P367S |
probably damaging |
Het |
| Tdp1 |
A |
G |
12: 99,857,929 (GRCm39) |
N163D |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,948,808 (GRCm39) |
D488G |
possibly damaging |
Het |
| Trappc12 |
C |
T |
12: 28,796,761 (GRCm39) |
S257N |
probably damaging |
Het |
| Treml1 |
T |
C |
17: 48,672,627 (GRCm39) |
|
probably benign |
Het |
| Ugt2b36 |
A |
G |
5: 87,228,744 (GRCm39) |
V234A |
probably damaging |
Het |
| Vmn2r86 |
T |
G |
10: 130,288,895 (GRCm39) |
H202P |
probably damaging |
Het |
| Vmn2r87 |
C |
A |
10: 130,307,878 (GRCm39) |
V787F |
probably damaging |
Het |
| Wbp2nl |
T |
A |
15: 82,190,619 (GRCm39) |
M129K |
probably damaging |
Het |
| Zdhhc15 |
T |
C |
X: 103,588,519 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Pirb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation