Incidental Mutation 'R9452:Pirb'
| ID |
714329 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pirb
|
| Ensembl Gene |
ENSMUSG00000058818 |
| Gene Name |
paired Ig-like receptor B |
| Synonyms |
Lilrb3, Gp91 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9452 (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 A
at 3720617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 294
(R294C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078451]
|
| AlphaFold |
P97484 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078451
AA Change: R294C
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000077546
Gene: ENSMUSG00000058818
AA Change: R294C
| 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: 99.6%
- 20x: 98.7%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
A |
G |
5: 24,612,382 (GRCm39) |
Y564C |
probably null |
Het |
| Ablim2 |
A |
T |
5: 36,015,198 (GRCm39) |
D470V |
probably benign |
Het |
| Actr10 |
T |
C |
12: 71,006,818 (GRCm39) |
|
probably null |
Het |
| Adam4 |
T |
A |
12: 81,467,071 (GRCm39) |
I517L |
probably benign |
Het |
| Ank1 |
C |
A |
8: 23,622,429 (GRCm39) |
D1659E |
probably benign |
Het |
| Arnt2 |
A |
G |
7: 83,933,334 (GRCm39) |
V308A |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,706,726 (GRCm39) |
V184A |
probably damaging |
Het |
| Bag1 |
A |
T |
4: 40,947,733 (GRCm39) |
I157N |
probably benign |
Het |
| Bicc1 |
A |
T |
10: 70,792,981 (GRCm39) |
D224E |
probably damaging |
Het |
| C2 |
T |
G |
17: 35,095,319 (GRCm39) |
I209L |
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,289,720 (GRCm39) |
|
probably null |
Het |
| Capn1 |
T |
C |
19: 6,057,287 (GRCm39) |
Y387C |
probably damaging |
Het |
| Cebpa |
A |
G |
7: 34,819,033 (GRCm39) |
I64V |
possibly damaging |
Het |
| Celf4 |
T |
G |
18: 25,624,219 (GRCm39) |
M436L |
probably benign |
Het |
| Cfb |
C |
A |
17: 35,078,084 (GRCm39) |
V436L |
probably benign |
Het |
| Ciart |
C |
T |
3: 95,788,527 (GRCm39) |
C104Y |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,232,394 (GRCm39) |
L898P |
probably benign |
Het |
| Cyp2c68 |
A |
T |
19: 39,687,833 (GRCm39) |
M388K |
possibly damaging |
Het |
| Cypt12 |
T |
C |
3: 18,002,843 (GRCm39) |
V72A |
probably benign |
Het |
| Dlec1 |
A |
G |
9: 118,941,541 (GRCm39) |
D309G |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,018,448 (GRCm39) |
V1394A |
probably benign |
Het |
| Dpp3 |
A |
C |
19: 4,973,750 (GRCm39) |
S108A |
probably benign |
Het |
| Eif5b |
C |
T |
1: 38,084,861 (GRCm39) |
P903S |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,733,690 (GRCm39) |
D580G |
probably damaging |
Het |
| Fam98c |
A |
G |
7: 28,852,901 (GRCm39) |
V44A |
probably benign |
Het |
| Fer |
A |
G |
17: 64,231,067 (GRCm39) |
K273E |
probably benign |
Het |
| Gzme |
T |
A |
14: 56,355,854 (GRCm39) |
I153F |
probably benign |
Het |
| Ice1 |
A |
T |
13: 70,744,462 (GRCm39) |
N2040K |
probably damaging |
Het |
| Ifi214 |
G |
T |
1: 173,356,894 (GRCm39) |
Q70K |
possibly damaging |
Het |
| Itpripl1 |
C |
A |
2: 126,983,334 (GRCm39) |
E263* |
probably null |
Het |
| Kat8 |
A |
G |
7: 127,524,421 (GRCm39) |
K433R |
probably benign |
Het |
| Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
| Lefty1 |
A |
T |
1: 180,762,849 (GRCm39) |
T59S |
probably benign |
Het |
| Lig3 |
C |
T |
11: 82,681,448 (GRCm39) |
T481M |
probably damaging |
Het |
| Lrfn1 |
A |
T |
7: 28,159,157 (GRCm39) |
I359F |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,850,726 (GRCm39) |
C90* |
probably null |
Het |
| Micall2 |
T |
G |
5: 139,703,311 (GRCm39) |
|
probably null |
Het |
| Mtmr3 |
G |
T |
11: 4,441,037 (GRCm39) |
L539I |
probably damaging |
Het |
| Obscn |
C |
A |
11: 58,924,962 (GRCm39) |
|
probably null |
Het |
| Olfml3 |
T |
C |
3: 103,643,575 (GRCm39) |
T269A |
probably benign |
Het |
| Oprl1 |
C |
T |
2: 181,360,454 (GRCm39) |
A170V |
possibly damaging |
Het |
| Or4c112 |
C |
T |
2: 88,854,234 (GRCm39) |
G38R |
|
Het |
| Pdgfrb |
G |
A |
18: 61,198,798 (GRCm39) |
V319M |
possibly damaging |
Het |
| Piwil1 |
T |
C |
5: 128,824,957 (GRCm39) |
S552P |
probably benign |
Het |
| Pkd2 |
T |
C |
5: 104,614,841 (GRCm39) |
F228L |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,682,953 (GRCm39) |
D83V |
possibly damaging |
Het |
| Plcl1 |
A |
G |
1: 55,734,992 (GRCm39) |
D111G |
probably damaging |
Het |
| Plpp2 |
A |
G |
10: 79,363,702 (GRCm39) |
S162P |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,256,151 (GRCm39) |
I1174K |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,485,465 (GRCm39) |
Y431N |
possibly damaging |
Het |
| Pter |
A |
G |
2: 12,985,111 (GRCm39) |
D147G |
probably benign |
Het |
| Rbsn |
T |
C |
6: 92,178,745 (GRCm39) |
D134G |
possibly damaging |
Het |
| Rnf220 |
T |
C |
4: 117,153,339 (GRCm39) |
D299G |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,133 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
G |
A |
2: 65,595,163 (GRCm39) |
S2004N |
probably benign |
Het |
| Slc7a4 |
T |
A |
16: 17,391,271 (GRCm39) |
N593I |
probably damaging |
Het |
| Spata31e3 |
T |
C |
13: 50,400,808 (GRCm39) |
H506R |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,399,152 (GRCm39) |
S2200P |
probably benign |
Het |
| Thoc2l |
T |
A |
5: 104,669,610 (GRCm39) |
N1377K |
probably benign |
Het |
| Tle1 |
A |
T |
4: 72,040,596 (GRCm39) |
H654Q |
probably benign |
Het |
| Ttll6 |
G |
A |
11: 96,026,588 (GRCm39) |
R124H |
probably damaging |
Het |
| Vmn2r111 |
A |
G |
17: 22,778,132 (GRCm39) |
C516R |
probably damaging |
Het |
| Vmn2r89 |
T |
C |
14: 51,693,288 (GRCm39) |
S213P |
probably damaging |
Het |
| Vmn2r-ps158 |
A |
T |
7: 42,697,257 (GRCm39) |
L771F |
possibly damaging |
Het |
| Washc4 |
A |
G |
10: 83,396,387 (GRCm39) |
N399S |
probably benign |
Het |
| Wdr37 |
G |
A |
13: 8,897,663 (GRCm39) |
H198Y |
|
Het |
| Zfp407 |
A |
G |
18: 84,580,579 (GRCm39) |
L178P |
probably benign |
Het |
| Zfp882 |
C |
T |
8: 72,668,831 (GRCm39) |
H553Y |
probably damaging |
Het |
| Zfp956 |
T |
C |
6: 47,940,370 (GRCm39) |
V243A |
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: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 |
|
|
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'- CTGACAGCCTGGGTTCATAG -3'
(R):5'- TGTGATCACCTCCAAAAGAGC -3'
Sequencing Primer
(F):5'- ACAGCCTGGGTTCATAGTATTC -3'
(R):5'- TCCAAAAGAGCAATGACCATCTGG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation