Incidental Mutation 'R8774:Pirb'
| ID |
664601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pirb
|
| Ensembl Gene |
ENSMUSG00000058818 |
| Gene Name |
paired Ig-like receptor B |
| Synonyms |
Lilrb3, Gp91 |
| MMRRC Submission |
068628-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8774 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
3715504-3723381 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 3720728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 257
(L257M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078451]
|
| AlphaFold |
P97484 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078451
AA Change: L257M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077546
Gene: ENSMUSG00000058818
AA Change: L257M
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (67/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,090,358 (GRCm39) |
S364P |
possibly damaging |
Het |
| Abcc2 |
T |
A |
19: 43,787,577 (GRCm39) |
Y208N |
probably damaging |
Het |
| Acy1 |
A |
T |
9: 106,313,913 (GRCm39) |
D82E |
probably damaging |
Het |
| Ankub1 |
A |
G |
3: 57,597,802 (GRCm39) |
L56P |
probably damaging |
Het |
| Aoc1 |
T |
A |
6: 48,885,529 (GRCm39) |
F678Y |
probably damaging |
Het |
| Asxl3 |
C |
A |
18: 22,657,101 (GRCm39) |
Q1704K |
probably damaging |
Het |
| Atg9b |
T |
C |
5: 24,595,571 (GRCm39) |
D236G |
probably damaging |
Het |
| Auh |
A |
T |
13: 52,993,631 (GRCm39) |
M261K |
probably benign |
Het |
| C2cd6 |
A |
T |
1: 59,099,825 (GRCm39) |
M372K |
possibly damaging |
Het |
| Ccdc88b |
A |
T |
19: 6,825,090 (GRCm39) |
N1287K |
probably damaging |
Het |
| Cebpz |
A |
G |
17: 79,229,073 (GRCm39) |
S958P |
probably benign |
Het |
| Cgn |
T |
A |
3: 94,680,810 (GRCm39) |
Q576L |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,854,692 (GRCm39) |
M2011K |
probably damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,529,820 (GRCm39) |
E676G |
probably benign |
Het |
| Cspp1 |
A |
T |
1: 10,183,139 (GRCm39) |
E781D |
possibly damaging |
Het |
| Cyb5d2 |
A |
C |
11: 72,679,901 (GRCm39) |
|
probably null |
Het |
| Epn3 |
G |
T |
11: 94,383,220 (GRCm39) |
P335T |
possibly damaging |
Het |
| Far2 |
T |
A |
6: 148,047,629 (GRCm39) |
S103T |
probably benign |
Het |
| Fhip1a |
G |
C |
3: 85,580,097 (GRCm39) |
Q703E |
probably benign |
Het |
| Fhl2 |
A |
G |
1: 43,162,751 (GRCm39) |
S255P |
probably damaging |
Het |
| Fmnl2 |
T |
A |
2: 52,932,321 (GRCm39) |
V100D |
|
Het |
| Gabbr1 |
T |
C |
17: 37,382,749 (GRCm39) |
L814P |
probably damaging |
Het |
| Gzmg |
C |
T |
14: 56,394,193 (GRCm39) |
V234I |
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,415,207 (GRCm39) |
V1334A |
probably benign |
Het |
| Itga8 |
C |
G |
2: 12,187,495 (GRCm39) |
G728A |
probably damaging |
Het |
| Klrg1 |
T |
C |
6: 122,255,193 (GRCm39) |
T80A |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,308,043 (GRCm39) |
N496S |
probably benign |
Het |
| Lsmem1 |
G |
T |
12: 40,227,145 (GRCm39) |
N113K |
probably damaging |
Het |
| Map3k2 |
G |
A |
18: 32,345,117 (GRCm39) |
S314N |
probably damaging |
Het |
| Mtpap |
C |
T |
18: 4,387,032 (GRCm39) |
R361* |
probably null |
Het |
| Muc5b |
T |
A |
7: 141,418,831 (GRCm39) |
S3926T |
probably benign |
Het |
| Nat10 |
C |
A |
2: 103,561,752 (GRCm39) |
R643L |
probably damaging |
Het |
| Ncbp3 |
T |
C |
11: 72,938,808 (GRCm39) |
V28A |
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,257,984 (GRCm39) |
L534P |
possibly damaging |
Het |
| Nmi |
T |
C |
2: 51,848,974 (GRCm39) |
K39E |
probably benign |
Het |
| Nxpe4 |
A |
G |
9: 48,304,692 (GRCm39) |
N260D |
probably benign |
Het |
| Or4k38 |
T |
C |
2: 111,166,318 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or51aa2 |
C |
A |
7: 103,187,965 (GRCm39) |
V159L |
probably benign |
Het |
| Or6c213 |
T |
A |
10: 129,573,926 (GRCm39) |
I287F |
probably damaging |
Het |
| Or8c19-ps1 |
G |
A |
9: 38,220,600 (GRCm39) |
A170T |
unknown |
Het |
| Phf2 |
G |
T |
13: 48,971,878 (GRCm39) |
|
probably benign |
Het |
| Plcg2 |
A |
T |
8: 118,306,585 (GRCm39) |
D313V |
possibly damaging |
Het |
| Ppard |
G |
A |
17: 28,517,864 (GRCm39) |
V311I |
possibly damaging |
Het |
| Ptcd1 |
A |
T |
5: 145,092,175 (GRCm39) |
M308K |
probably damaging |
Het |
| Pygo1 |
A |
G |
9: 72,852,436 (GRCm39) |
N208D |
possibly damaging |
Het |
| Robo1 |
T |
G |
16: 72,832,719 (GRCm39) |
D1497E |
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,730,169 (GRCm39) |
D1022G |
probably damaging |
Het |
| Shc3 |
G |
A |
13: 51,615,475 (GRCm39) |
H161Y |
probably damaging |
Het |
| Slc15a1 |
G |
T |
14: 121,724,423 (GRCm39) |
Q150K |
probably damaging |
Het |
| Slc6a11 |
C |
A |
6: 114,206,995 (GRCm39) |
|
probably benign |
Het |
| Sod1 |
T |
G |
16: 90,023,039 (GRCm39) |
V120G |
probably damaging |
Het |
| Spata31g1 |
T |
C |
4: 42,971,087 (GRCm39) |
L140P |
probably damaging |
Het |
| Sprr2f |
T |
A |
3: 92,273,323 (GRCm39) |
C41S |
unknown |
Het |
| Svil |
A |
T |
18: 5,049,068 (GRCm39) |
Y115F |
probably damaging |
Het |
| Tdp1 |
T |
C |
12: 99,877,917 (GRCm39) |
S400P |
probably damaging |
Het |
| Thbs4 |
A |
T |
13: 92,898,030 (GRCm39) |
D596E |
probably damaging |
Het |
| Tshz1 |
T |
A |
18: 84,033,101 (GRCm39) |
M436L |
possibly damaging |
Het |
| Ube3c |
C |
T |
5: 29,812,029 (GRCm39) |
T423I |
probably benign |
Het |
| Unc93a |
A |
T |
17: 13,341,837 (GRCm39) |
I98N |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,085,213 (GRCm39) |
Y624* |
probably null |
Het |
| Utp20 |
A |
G |
10: 88,588,763 (GRCm39) |
|
probably benign |
Het |
| Vmn1r217 |
T |
A |
13: 23,298,108 (GRCm39) |
M265L |
probably benign |
Het |
| Vmn1r222 |
A |
T |
13: 23,416,418 (GRCm39) |
M265K |
probably benign |
Het |
| Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
| Zfp867 |
A |
G |
11: 59,354,837 (GRCm39) |
F164S |
probably damaging |
Het |
| Zswim1 |
C |
T |
2: 164,668,062 (GRCm39) |
T438I |
probably benign |
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 |
|
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-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'- AGAGCCTGGGGTTGAGAATCTG -3'
(R):5'- CAAAGGCAACATCTTCTGGTGG -3'
Sequencing Primer
(F):5'- GGTTGAGAATCTGACTGTCCCC -3'
(R):5'- GCAACATCTTCTGGTGGGACATTC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation