Incidental Mutation 'IGL02941:Pirb'
ID |
364499 |
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 # |
IGL02941
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
3715504-3723381 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 3720377 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 332
(V332A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078451]
|
AlphaFold |
P97484 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078451
AA Change: V332A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077546 Gene: ENSMUSG00000058818 AA Change: V332A
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405O20Rik |
G |
A |
7: 50,249,284 (GRCm39) |
R106Q |
probably damaging |
Het |
Amhr2 |
T |
C |
15: 102,355,724 (GRCm39) |
V223A |
probably damaging |
Het |
Aqr |
T |
A |
2: 113,943,835 (GRCm39) |
H1101L |
probably damaging |
Het |
Arnt |
T |
A |
3: 95,367,681 (GRCm39) |
|
probably benign |
Het |
Cacnb2 |
G |
A |
2: 14,963,640 (GRCm39) |
V85I |
probably benign |
Het |
Cast |
A |
T |
13: 74,848,806 (GRCm39) |
D727E |
probably damaging |
Het |
Ccdc134 |
C |
T |
15: 82,025,151 (GRCm39) |
R217W |
probably damaging |
Het |
Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
Col5a3 |
A |
G |
9: 20,715,962 (GRCm39) |
S360P |
unknown |
Het |
Cyp4f16 |
T |
C |
17: 32,756,061 (GRCm39) |
I30T |
possibly damaging |
Het |
Dop1b |
T |
C |
16: 93,552,361 (GRCm39) |
F267L |
probably benign |
Het |
Fbxo3 |
A |
G |
2: 103,880,639 (GRCm39) |
T250A |
probably damaging |
Het |
Gm4953 |
C |
T |
1: 158,995,963 (GRCm39) |
|
noncoding transcript |
Het |
Gm9242 |
T |
C |
16: 97,292,279 (GRCm39) |
|
probably benign |
Het |
Gsr |
G |
A |
8: 34,179,453 (GRCm39) |
V354I |
probably damaging |
Het |
H2bc21 |
A |
G |
3: 96,128,732 (GRCm39) |
Y84C |
possibly damaging |
Het |
Hecw1 |
T |
A |
13: 14,552,311 (GRCm39) |
D96V |
probably damaging |
Het |
Il18r1 |
A |
G |
1: 40,537,711 (GRCm39) |
Y492C |
probably damaging |
Het |
Itgb5 |
T |
G |
16: 33,764,465 (GRCm39) |
|
probably benign |
Het |
Lars2 |
T |
G |
9: 123,288,650 (GRCm39) |
L832R |
probably damaging |
Het |
Ms4a6c |
A |
G |
19: 11,448,466 (GRCm39) |
|
probably benign |
Het |
Nrxn1 |
T |
C |
17: 90,515,811 (GRCm39) |
S1227G |
probably damaging |
Het |
Or1j11 |
T |
C |
2: 36,312,132 (GRCm39) |
C241R |
probably damaging |
Het |
Or2c1 |
T |
C |
16: 3,657,680 (GRCm39) |
V281A |
possibly damaging |
Het |
Or52r1c |
A |
G |
7: 102,735,528 (GRCm39) |
T263A |
probably benign |
Het |
Pcdh17 |
A |
G |
14: 84,685,747 (GRCm39) |
Y738C |
probably damaging |
Het |
Pcsk5 |
C |
A |
19: 17,424,865 (GRCm39) |
C1646F |
probably damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Polrmt |
A |
T |
10: 79,573,092 (GRCm39) |
|
probably benign |
Het |
Saxo1 |
G |
T |
4: 86,363,821 (GRCm39) |
R221S |
probably damaging |
Het |
Specc1l |
A |
G |
10: 75,077,022 (GRCm39) |
I93V |
probably benign |
Het |
St8sia2 |
T |
A |
7: 73,626,397 (GRCm39) |
|
probably benign |
Het |
Tep1 |
A |
T |
14: 51,103,494 (GRCm39) |
N265K |
probably damaging |
Het |
Thbd |
A |
T |
2: 148,248,954 (GRCm39) |
Y305N |
probably damaging |
Het |
Tmem120a |
T |
C |
5: 135,764,605 (GRCm39) |
T325A |
probably damaging |
Het |
Vill |
G |
A |
9: 118,895,955 (GRCm39) |
|
probably benign |
Het |
Wdr35 |
A |
G |
12: 9,077,507 (GRCm39) |
D1060G |
probably damaging |
Het |
Xrn2 |
T |
A |
2: 146,868,444 (GRCm39) |
F166I |
probably damaging |
Het |
Zc3h7a |
T |
G |
16: 10,976,458 (GRCm39) |
|
probably null |
Het |
Zdhhc13 |
G |
A |
7: 48,466,886 (GRCm39) |
|
probably benign |
Het |
Zfp808 |
T |
A |
13: 62,320,944 (GRCm39) |
N724K |
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 |
|
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 |
2015-12-18 |