Incidental Mutation 'R8397:Pirb'
| ID |
647652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pirb
|
| Ensembl Gene |
ENSMUSG00000058818 |
| Gene Name |
paired Ig-like receptor B |
| Synonyms |
Lilrb3, Gp91 |
| MMRRC Submission |
067760-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8397 (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 3719045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 615
(L615F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078451]
|
| AlphaFold |
P97484 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078451
AA Change: L615F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077546
Gene: ENSMUSG00000058818
AA Change: L615F
| 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 |
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg3 |
A |
G |
8: 95,767,141 (GRCm39) |
T499A |
probably benign |
Het |
| Ahsa1 |
G |
T |
12: 87,320,451 (GRCm39) |
E311* |
probably null |
Het |
| Apol9a |
C |
T |
15: 77,288,813 (GRCm39) |
V185I |
probably benign |
Het |
| Arhgap27 |
T |
A |
11: 103,224,073 (GRCm39) |
D580V |
probably damaging |
Het |
| Arpp21 |
A |
C |
9: 111,978,440 (GRCm39) |
S298A |
possibly damaging |
Het |
| B4galnt2 |
T |
A |
11: 95,756,989 (GRCm39) |
T481S |
probably benign |
Het |
| Cct8 |
G |
A |
16: 87,290,651 (GRCm39) |
R59C |
possibly damaging |
Het |
| Cdhr5 |
C |
T |
7: 140,851,801 (GRCm39) |
G501E |
possibly damaging |
Het |
| Chka |
G |
A |
19: 3,902,414 (GRCm39) |
|
probably null |
Het |
| Cit |
C |
A |
5: 116,024,856 (GRCm39) |
N366K |
probably benign |
Het |
| Dennd4a |
A |
T |
9: 64,796,391 (GRCm39) |
M806L |
probably benign |
Het |
| Dhx9 |
T |
A |
1: 153,344,657 (GRCm39) |
H510L |
probably damaging |
Het |
| Esyt3 |
C |
T |
9: 99,209,966 (GRCm39) |
V305I |
probably benign |
Het |
| Fbxo40 |
A |
T |
16: 36,790,985 (GRCm39) |
C42S |
probably damaging |
Het |
| Fbxw26 |
T |
C |
9: 109,561,715 (GRCm39) |
M160V |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,560,562 (GRCm39) |
V1315A |
probably benign |
Het |
| Gbp9 |
T |
A |
5: 105,231,464 (GRCm39) |
N374I |
possibly damaging |
Het |
| Gm11992 |
T |
G |
11: 9,011,305 (GRCm39) |
S249A |
probably damaging |
Het |
| Gm14418 |
T |
A |
2: 177,079,086 (GRCm39) |
Q303L |
probably damaging |
Het |
| Hectd4 |
C |
A |
5: 121,397,957 (GRCm39) |
P295Q |
probably damaging |
Het |
| Kdm2b |
T |
C |
5: 123,018,579 (GRCm39) |
N954D |
probably benign |
Het |
| Klf15 |
C |
T |
6: 90,443,778 (GRCm39) |
H118Y |
probably damaging |
Het |
| Lrit2 |
G |
T |
14: 36,791,034 (GRCm39) |
A238S |
probably damaging |
Het |
| Man2c1 |
A |
C |
9: 57,042,783 (GRCm39) |
M218L |
probably benign |
Het |
| Map3k1 |
T |
A |
13: 111,892,138 (GRCm39) |
H1039L |
probably damaging |
Het |
| Map3k9 |
A |
G |
12: 81,769,136 (GRCm39) |
S971P |
probably benign |
Het |
| Map4k3 |
C |
T |
17: 80,971,446 (GRCm39) |
V74I |
probably damaging |
Het |
| Mars1 |
A |
T |
10: 127,136,368 (GRCm39) |
S486T |
possibly damaging |
Het |
| Mettl13 |
A |
T |
1: 162,371,887 (GRCm39) |
S327R |
possibly damaging |
Het |
| Mkks |
G |
A |
2: 136,722,923 (GRCm39) |
T78M |
possibly damaging |
Het |
| Mst1 |
C |
T |
9: 107,958,698 (GRCm39) |
|
probably benign |
Het |
| Myh1 |
G |
T |
11: 67,112,465 (GRCm39) |
A1811S |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,241,113 (GRCm39) |
H830R |
possibly damaging |
Het |
| Nek4 |
A |
G |
14: 30,692,505 (GRCm39) |
D443G |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,438,518 (GRCm39) |
L137P |
probably damaging |
Het |
| Nipsnap3b |
T |
C |
4: 53,012,049 (GRCm39) |
|
probably null |
Het |
| Nos1ap |
G |
T |
1: 170,155,194 (GRCm39) |
P220T |
unknown |
Het |
| Nrxn3 |
T |
A |
12: 90,298,583 (GRCm39) |
I368N |
probably benign |
Het |
| Nup133 |
T |
A |
8: 124,649,156 (GRCm39) |
Q562L |
probably benign |
Het |
| Nup214 |
T |
A |
2: 31,880,266 (GRCm39) |
L342Q |
probably damaging |
Het |
| Nxn |
A |
G |
11: 76,163,232 (GRCm39) |
S264P |
probably damaging |
Het |
| Or11g24 |
G |
T |
14: 50,662,137 (GRCm39) |
D54Y |
probably damaging |
Het |
| Otud4 |
T |
C |
8: 80,395,927 (GRCm39) |
S567P |
probably benign |
Het |
| Patl2 |
A |
C |
2: 121,955,754 (GRCm39) |
S261A |
probably damaging |
Het |
| Pcdh15 |
C |
T |
10: 74,126,865 (GRCm39) |
P315S |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,736,616 (GRCm39) |
H827Q |
probably damaging |
Het |
| Ppp1r12c |
T |
A |
7: 4,492,768 (GRCm39) |
H236L |
probably damaging |
Het |
| Prkd1 |
C |
T |
12: 50,439,675 (GRCm39) |
G384E |
probably benign |
Het |
| Rmnd1 |
C |
A |
10: 4,377,278 (GRCm39) |
E134* |
probably null |
Het |
| Rusc2 |
T |
A |
4: 43,424,206 (GRCm39) |
H1090Q |
possibly damaging |
Het |
| Sema5b |
A |
C |
16: 35,471,691 (GRCm39) |
Y428S |
possibly damaging |
Het |
| Slc2a8 |
T |
A |
2: 32,866,010 (GRCm39) |
I301L |
probably benign |
Het |
| Slc38a11 |
C |
T |
2: 65,160,635 (GRCm39) |
V320M |
probably damaging |
Het |
| Slc4a5 |
G |
T |
6: 83,266,308 (GRCm39) |
|
probably null |
Het |
| Slc7a6 |
T |
C |
8: 106,920,165 (GRCm39) |
I320T |
probably damaging |
Het |
| Slc8a3 |
A |
G |
12: 81,246,542 (GRCm39) |
I837T |
probably benign |
Het |
| Spag1 |
C |
T |
15: 36,197,895 (GRCm39) |
R286* |
probably null |
Het |
| Tlr3 |
A |
T |
8: 45,851,896 (GRCm39) |
F334I |
possibly damaging |
Het |
| Unc13b |
A |
G |
4: 43,217,290 (GRCm39) |
I530V |
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,886,722 (GRCm39) |
D64G |
possibly damaging |
Het |
| Zfp157 |
T |
A |
5: 138,454,518 (GRCm39) |
Y239N |
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 |
|
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 |
|
|
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'- CTGATAGTCGCTACTCCAAACC -3'
(R):5'- TCATTCTGTCCAAGGAGGGATC -3'
Sequencing Primer
(F):5'- TAGTCGCTACTCCAAACCTAGATTG -3'
(R):5'- GGATCAGCCCAGCAACC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation