Incidental Mutation 'R4827:Pirb'
ID |
372500 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pirb
|
Ensembl Gene |
ENSMUSG00000058818 |
Gene Name |
paired Ig-like receptor B |
Synonyms |
Lilrb3, Gp91 |
MMRRC Submission |
042443-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4827 (G1)
|
Quality Score |
85 |
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: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
96% (67/70) |
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 |
Adck1 |
A |
G |
12: 88,413,489 (GRCm39) |
R274G |
probably benign |
Het |
Agbl5 |
T |
G |
5: 31,053,158 (GRCm39) |
S83R |
probably damaging |
Het |
Ankib1 |
A |
G |
5: 3,751,907 (GRCm39) |
I711T |
probably damaging |
Het |
Arnt |
T |
A |
3: 95,397,224 (GRCm39) |
|
probably null |
Het |
Atad2 |
C |
G |
15: 57,971,744 (GRCm39) |
V702L |
probably benign |
Het |
B4galnt4 |
A |
G |
7: 140,648,392 (GRCm39) |
E636G |
probably benign |
Het |
Btbd2 |
A |
G |
10: 80,482,223 (GRCm39) |
I244T |
probably damaging |
Het |
Cenpc1 |
A |
T |
5: 86,182,290 (GRCm39) |
N531K |
possibly damaging |
Het |
Ces3b |
T |
A |
8: 105,813,527 (GRCm39) |
M266K |
probably benign |
Het |
Cfap54 |
A |
T |
10: 92,737,937 (GRCm39) |
|
probably benign |
Het |
Coq8a |
A |
G |
1: 179,994,903 (GRCm39) |
V590A |
possibly damaging |
Het |
Drc7 |
A |
G |
8: 95,798,267 (GRCm39) |
Y504C |
probably damaging |
Het |
Elovl4 |
T |
C |
9: 83,688,091 (GRCm39) |
M1V |
probably null |
Het |
Exd1 |
C |
T |
2: 119,350,807 (GRCm39) |
A485T |
probably benign |
Het |
Fads2 |
A |
G |
19: 10,059,958 (GRCm39) |
F239L |
probably benign |
Het |
Gcc2 |
A |
T |
10: 58,121,953 (GRCm39) |
|
probably null |
Het |
Ggact |
C |
T |
14: 123,128,987 (GRCm39) |
R76H |
probably benign |
Het |
Gm17535 |
T |
A |
9: 3,035,786 (GRCm39) |
L218H |
probably benign |
Het |
Gm3739 |
A |
T |
14: 18,506,218 (GRCm39) |
F13I |
probably damaging |
Het |
Gng2 |
T |
C |
14: 19,925,898 (GRCm39) |
K65E |
possibly damaging |
Het |
Gnmt |
A |
G |
17: 47,038,245 (GRCm39) |
Y94H |
possibly damaging |
Het |
Gzme |
C |
A |
14: 56,356,755 (GRCm39) |
R69M |
probably null |
Het |
Hdc |
G |
A |
2: 126,436,233 (GRCm39) |
P546L |
probably benign |
Het |
Ibtk |
C |
A |
9: 85,610,607 (GRCm39) |
V326F |
probably benign |
Het |
Inpp5b |
G |
T |
4: 124,637,643 (GRCm39) |
|
probably benign |
Het |
Kcnh7 |
A |
T |
2: 62,546,564 (GRCm39) |
C1006S |
probably benign |
Het |
Kcnk18 |
A |
T |
19: 59,208,362 (GRCm39) |
N66I |
probably damaging |
Het |
Lpar6 |
T |
A |
14: 73,476,190 (GRCm39) |
N50K |
probably damaging |
Het |
Lrba |
G |
T |
3: 86,267,457 (GRCm39) |
D1716Y |
possibly damaging |
Het |
Ltf |
T |
A |
9: 110,856,445 (GRCm39) |
|
probably benign |
Het |
Map3k6 |
A |
G |
4: 132,976,160 (GRCm39) |
T794A |
possibly damaging |
Het |
Mcm8 |
A |
G |
2: 132,665,174 (GRCm39) |
T217A |
probably damaging |
Het |
Meaf6 |
A |
G |
4: 124,996,713 (GRCm39) |
E141G |
probably damaging |
Het |
Mmp13 |
A |
G |
9: 7,278,880 (GRCm39) |
T324A |
possibly damaging |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Msl2 |
T |
G |
9: 100,979,350 (GRCm39) |
F575V |
probably benign |
Het |
Ncoa4-ps |
C |
T |
12: 119,225,529 (GRCm39) |
|
noncoding transcript |
Het |
Nlrp2 |
A |
T |
7: 5,331,950 (GRCm39) |
W149R |
possibly damaging |
Het |
Ntng1 |
C |
A |
3: 110,042,727 (GRCm39) |
C33F |
probably damaging |
Het |
Nxn |
A |
G |
11: 76,152,418 (GRCm39) |
Y359H |
probably benign |
Het |
Olfml2a |
A |
C |
2: 38,850,033 (GRCm39) |
D583A |
probably damaging |
Het |
Or12j5 |
A |
C |
7: 140,083,583 (GRCm39) |
L263R |
probably damaging |
Het |
Or1e32 |
A |
T |
11: 73,705,547 (GRCm39) |
Y120* |
probably null |
Het |
Or2t48 |
A |
G |
11: 58,420,422 (GRCm39) |
I130T |
probably damaging |
Het |
Or4b1b |
A |
T |
2: 90,112,547 (GRCm39) |
I124N |
probably damaging |
Het |
Or51ac3 |
A |
T |
7: 103,213,752 (GRCm39) |
S245T |
probably damaging |
Het |
Pcdha4 |
T |
C |
18: 37,086,251 (GRCm39) |
S145P |
probably damaging |
Het |
Pcsk2 |
A |
T |
2: 143,643,099 (GRCm39) |
K459* |
probably null |
Het |
Plch2 |
A |
G |
4: 155,075,570 (GRCm39) |
F653S |
probably damaging |
Het |
Plpp3 |
T |
C |
4: 105,088,167 (GRCm39) |
I296T |
probably benign |
Het |
Polr2b |
A |
G |
5: 77,490,398 (GRCm39) |
E846G |
probably benign |
Het |
Ptpro |
A |
T |
6: 137,419,708 (GRCm39) |
N157Y |
probably damaging |
Het |
Ralgapa1 |
A |
G |
12: 55,723,222 (GRCm39) |
L1815P |
probably damaging |
Het |
Sap18 |
A |
G |
14: 58,036,020 (GRCm39) |
N69D |
probably damaging |
Het |
Sncg |
C |
A |
14: 34,095,284 (GRCm39) |
V74F |
probably damaging |
Het |
Spata31e2 |
T |
C |
1: 26,724,923 (GRCm39) |
K86E |
possibly damaging |
Het |
Spmip4 |
A |
C |
6: 50,572,836 (GRCm39) |
S26A |
possibly damaging |
Het |
Tmem186 |
A |
T |
16: 8,453,681 (GRCm39) |
Y193* |
probably null |
Het |
Trrap |
A |
G |
5: 144,737,758 (GRCm39) |
S1045G |
probably benign |
Het |
Tti2 |
T |
G |
8: 31,640,998 (GRCm39) |
S41A |
probably benign |
Het |
Unc13c |
T |
C |
9: 73,838,568 (GRCm39) |
E761G |
probably damaging |
Het |
Vamp2 |
T |
A |
11: 68,980,637 (GRCm39) |
D68E |
probably benign |
Het |
Vmn1r200 |
A |
T |
13: 22,579,265 (GRCm39) |
M14L |
probably benign |
Het |
Vps35 |
T |
A |
8: 86,000,186 (GRCm39) |
D480V |
possibly damaging |
Het |
Zfp462 |
T |
C |
4: 55,012,213 (GRCm39) |
L1393P |
probably damaging |
Het |
Zfp512 |
G |
A |
5: 31,630,158 (GRCm39) |
M274I |
probably benign |
Het |
Znfx1 |
C |
G |
2: 166,886,151 (GRCm39) |
G803A |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2016-03-01 |