Incidental Mutation 'R5921:Pirb'
| ID |
461578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pirb
|
| Ensembl Gene |
ENSMUSG00000058818 |
| Gene Name |
paired Ig-like receptor B |
| Synonyms |
Lilrb3, Gp91 |
| MMRRC Submission |
044118-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5921 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
3715504-3723381 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to C
at 3719693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 484
(Y484*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078451]
|
| AlphaFold |
P97484 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000078451
AA Change: Y484*
|
| SMART Domains |
Protein: ENSMUSP00000077546
Gene: ENSMUSG00000058818
AA Change: Y484*
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
| Validation Efficiency |
95% (70/74) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
G |
A |
5: 35,969,555 (GRCm39) |
V223M |
probably damaging |
Het |
| Adamts7 |
T |
C |
9: 90,070,747 (GRCm39) |
S623P |
probably benign |
Het |
| Aqp7 |
G |
T |
4: 41,036,093 (GRCm39) |
N48K |
probably benign |
Het |
| Asic4 |
A |
G |
1: 75,428,017 (GRCm39) |
N181S |
probably benign |
Het |
| Blvra |
A |
T |
2: 126,929,283 (GRCm39) |
|
probably benign |
Het |
| Bmf |
C |
A |
2: 118,363,034 (GRCm39) |
|
probably benign |
Het |
| Bnc2 |
A |
T |
4: 84,211,292 (GRCm39) |
I454N |
possibly damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,889,948 (GRCm39) |
L700H |
possibly damaging |
Het |
| Ccdc14 |
T |
C |
16: 34,526,761 (GRCm39) |
V222A |
probably damaging |
Het |
| Cfap97d2 |
G |
T |
8: 13,784,840 (GRCm39) |
A34S |
probably damaging |
Het |
| Clstn3 |
A |
T |
6: 124,408,539 (GRCm39) |
|
probably benign |
Het |
| Col15a1 |
A |
T |
4: 47,300,602 (GRCm39) |
I1066F |
probably damaging |
Het |
| Dcdc2c |
T |
C |
12: 28,574,774 (GRCm39) |
E116G |
possibly damaging |
Het |
| Dop1a |
G |
A |
9: 86,383,975 (GRCm39) |
S310N |
probably damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,584,802 (GRCm39) |
V735E |
probably damaging |
Het |
| Eva1a |
T |
C |
6: 82,069,140 (GRCm39) |
Y156H |
probably damaging |
Het |
| Fbxw26 |
A |
G |
9: 109,575,086 (GRCm39) |
I13T |
probably damaging |
Het |
| Fermt2 |
A |
T |
14: 45,702,203 (GRCm39) |
L527Q |
probably damaging |
Het |
| Fxyd4 |
G |
A |
6: 117,913,099 (GRCm39) |
|
probably benign |
Het |
| Gal |
A |
G |
19: 3,460,100 (GRCm39) |
S124P |
probably damaging |
Het |
| Glmp |
T |
C |
3: 88,233,283 (GRCm39) |
S56P |
probably benign |
Het |
| Gm5600 |
T |
C |
7: 113,307,413 (GRCm39) |
|
noncoding transcript |
Het |
| Golga2 |
A |
G |
2: 32,187,767 (GRCm39) |
N194S |
probably benign |
Het |
| Gon4l |
T |
C |
3: 88,817,254 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird2 |
T |
A |
5: 134,246,426 (GRCm39) |
Y895N |
probably damaging |
Het |
| Hsd3b1 |
C |
A |
3: 98,765,215 (GRCm39) |
M22I |
probably benign |
Het |
| Ipo13 |
A |
C |
4: 117,769,286 (GRCm39) |
L169V |
probably benign |
Het |
| Kif13a |
G |
T |
13: 46,978,776 (GRCm39) |
T208K |
probably damaging |
Het |
| Klhl5 |
G |
T |
5: 65,320,299 (GRCm39) |
A618S |
probably damaging |
Het |
| Lrig2 |
A |
T |
3: 104,370,070 (GRCm39) |
L496* |
probably null |
Het |
| Macf1 |
A |
G |
4: 123,420,504 (GRCm39) |
I250T |
probably benign |
Het |
| Man1a |
A |
G |
10: 53,783,606 (GRCm39) |
I632T |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 48,954,324 (GRCm39) |
|
probably benign |
Het |
| Nek8 |
A |
G |
11: 78,063,885 (GRCm39) |
M40T |
probably damaging |
Het |
| Oas3 |
T |
C |
5: 120,908,046 (GRCm39) |
D298G |
probably damaging |
Het |
| Ociad1 |
A |
G |
5: 73,467,725 (GRCm39) |
D167G |
probably benign |
Het |
| Or14j4 |
A |
T |
17: 37,921,110 (GRCm39) |
C177* |
probably null |
Het |
| Or8s5 |
T |
C |
15: 98,238,310 (GRCm39) |
T187A |
probably benign |
Het |
| Or9s13 |
T |
A |
1: 92,548,344 (GRCm39) |
S239T |
probably benign |
Het |
| Pafah2 |
G |
T |
4: 134,145,380 (GRCm39) |
V255L |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,149,369 (GRCm39) |
Y407C |
probably damaging |
Het |
| Prl8a6 |
A |
G |
13: 27,621,171 (GRCm39) |
S20P |
probably damaging |
Het |
| R3hdm4 |
A |
T |
10: 79,749,453 (GRCm39) |
V52E |
probably damaging |
Het |
| Rab3ip |
A |
G |
10: 116,775,152 (GRCm39) |
Y69H |
probably damaging |
Het |
| Rxrg |
T |
C |
1: 167,466,808 (GRCm39) |
M330T |
possibly damaging |
Het |
| Sema4g |
G |
T |
19: 44,987,143 (GRCm39) |
G460V |
probably benign |
Het |
| Sidt1 |
T |
C |
16: 44,094,098 (GRCm39) |
|
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,065,595 (GRCm39) |
D943E |
probably benign |
Het |
| Slc12a4 |
T |
C |
8: 106,671,876 (GRCm39) |
|
probably null |
Het |
| Slc4a3 |
T |
G |
1: 75,534,088 (GRCm39) |
|
probably null |
Het |
| Slc4a8 |
C |
T |
15: 100,712,328 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
A |
7: 127,158,005 (GRCm39) |
|
probably benign |
Het |
| Stk39 |
A |
G |
2: 68,196,449 (GRCm39) |
S327P |
probably damaging |
Het |
| Tbc1d5 |
G |
A |
17: 51,270,721 (GRCm39) |
T170M |
probably damaging |
Het |
| Trim13 |
T |
A |
14: 61,842,538 (GRCm39) |
F185Y |
probably benign |
Het |
| Ttc17 |
A |
G |
2: 94,209,193 (GRCm39) |
V87A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,551,207 (GRCm39) |
M31395K |
possibly damaging |
Het |
| Usp34 |
T |
A |
11: 23,414,686 (GRCm39) |
D2876E |
probably damaging |
Het |
| Uvssa |
T |
C |
5: 33,547,096 (GRCm39) |
S221P |
probably benign |
Het |
| Vmn2r93 |
T |
A |
17: 18,546,030 (GRCm39) |
L634Q |
probably damaging |
Het |
| Vmp1 |
C |
T |
11: 86,477,336 (GRCm39) |
A355T |
probably benign |
Het |
| Xpo5 |
A |
T |
17: 46,532,347 (GRCm39) |
M461L |
probably benign |
Het |
| Zfp759 |
T |
A |
13: 67,288,558 (GRCm39) |
F703Y |
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 |
|
|
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 |
|
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 |
PCR Primer
(F):5'- TTAGGATTCCTGTATCCATCCTAGC -3'
(R):5'- AAGAAGCCCTCTCTGCTGAC -3'
Sequencing Primer
(F):5'- TGTATCCATCCTAGCCATAAGC -3'
(R):5'- TCTGCTGACTCACCAAGGC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation