Incidental Mutation 'R3928:Pirb'
| ID |
308366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pirb
|
| Ensembl Gene |
ENSMUSG00000058818 |
| Gene Name |
paired Ig-like receptor B |
| Synonyms |
Lilrb3, Gp91 |
| MMRRC Submission |
040823-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3928 (G1)
|
| Quality Score |
95 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
3715504-3723381 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3720637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 287
(L287Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078451]
|
| AlphaFold |
P97484 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078451
AA Change: L287Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000077546
Gene: ENSMUSG00000058818
AA Change: L287Q
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (48/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abr |
A |
T |
11: 76,359,561 (GRCm39) |
H181Q |
probably benign |
Het |
| Atrx |
T |
C |
X: 104,923,523 (GRCm39) |
I157V |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,918,170 (GRCm39) |
D1856G |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,945,404 (GRCm39) |
T2811A |
probably damaging |
Het |
| Brsk2 |
T |
C |
7: 141,552,155 (GRCm39) |
F108S |
probably damaging |
Het |
| Clasp2 |
C |
A |
9: 113,735,173 (GRCm39) |
H1004N |
probably benign |
Het |
| Cntd1 |
G |
A |
11: 101,178,345 (GRCm39) |
V315I |
probably benign |
Het |
| Col13a1 |
A |
G |
10: 61,703,304 (GRCm39) |
|
probably benign |
Het |
| Ctps1 |
T |
A |
4: 120,399,093 (GRCm39) |
H553L |
probably benign |
Het |
| Dpysl2 |
A |
G |
14: 67,061,880 (GRCm39) |
I242T |
possibly damaging |
Het |
| Exoc3l |
C |
T |
8: 106,017,549 (GRCm39) |
|
probably benign |
Het |
| Fam229a |
A |
G |
4: 129,385,204 (GRCm39) |
|
probably benign |
Het |
| Fshr |
C |
T |
17: 89,292,962 (GRCm39) |
R572H |
probably damaging |
Het |
| Gm5501 |
A |
G |
18: 9,917,267 (GRCm39) |
|
noncoding transcript |
Het |
| Gmpr |
A |
G |
13: 45,683,223 (GRCm39) |
I165V |
probably benign |
Het |
| Gnat3 |
G |
A |
5: 18,208,892 (GRCm39) |
|
probably benign |
Het |
| H1f8 |
A |
G |
6: 115,925,757 (GRCm39) |
K185E |
probably benign |
Het |
| H2-Q4 |
T |
G |
17: 35,598,666 (GRCm39) |
L16R |
unknown |
Het |
| Hs2st1 |
T |
C |
3: 144,140,389 (GRCm39) |
K311E |
possibly damaging |
Het |
| Kcnj15 |
A |
G |
16: 95,097,368 (GRCm39) |
E330G |
possibly damaging |
Het |
| Kif3a |
A |
G |
11: 53,461,441 (GRCm39) |
K29E |
probably benign |
Het |
| Krtap4-1 |
A |
G |
11: 99,518,983 (GRCm39) |
V9A |
unknown |
Het |
| Lmntd2 |
C |
T |
7: 140,791,117 (GRCm39) |
G432S |
probably damaging |
Het |
| Me3 |
T |
C |
7: 89,482,898 (GRCm39) |
|
probably benign |
Het |
| Myo1d |
G |
T |
11: 80,375,087 (GRCm39) |
R996S |
probably benign |
Het |
| Myo9a |
T |
A |
9: 59,802,566 (GRCm39) |
W2018R |
probably damaging |
Het |
| Nphp3 |
G |
T |
9: 103,888,929 (GRCm39) |
V265F |
probably damaging |
Het |
| Or10ak9 |
T |
C |
4: 118,726,179 (GRCm39) |
L66P |
probably damaging |
Het |
| Or5p67 |
A |
G |
7: 107,922,232 (GRCm39) |
I217T |
probably benign |
Het |
| Or8c16 |
T |
C |
9: 38,130,131 (GRCm39) |
M1T |
probably null |
Het |
| Pgp |
A |
G |
17: 24,690,315 (GRCm39) |
E247G |
probably damaging |
Het |
| Plch1 |
G |
A |
3: 63,675,044 (GRCm39) |
A202V |
probably damaging |
Het |
| Rbm11 |
G |
A |
16: 75,389,932 (GRCm39) |
|
probably null |
Het |
| Scg5 |
T |
C |
2: 113,622,230 (GRCm39) |
K124R |
probably damaging |
Het |
| Serpina3j |
A |
T |
12: 104,285,916 (GRCm39) |
H357L |
probably damaging |
Het |
| St6gal2 |
A |
G |
17: 55,803,324 (GRCm39) |
D353G |
possibly damaging |
Het |
| Tdpoz3 |
T |
C |
3: 93,734,216 (GRCm39) |
I297T |
possibly damaging |
Het |
| Tdrd5 |
G |
A |
1: 156,128,348 (GRCm39) |
T136I |
probably benign |
Het |
| Tfcp2l1 |
T |
A |
1: 118,597,206 (GRCm39) |
I429K |
possibly damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Top1 |
T |
C |
2: 160,529,669 (GRCm39) |
|
probably benign |
Het |
| Trim61 |
A |
G |
8: 65,465,969 (GRCm39) |
F431L |
probably benign |
Het |
| Trmo |
C |
T |
4: 46,382,647 (GRCm39) |
G150S |
probably damaging |
Het |
| Vmn1r183 |
T |
C |
7: 23,754,997 (GRCm39) |
S267P |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,342,013 (GRCm39) |
F1418Y |
possibly damaging |
Het |
| Zfp114 |
T |
C |
7: 23,880,467 (GRCm39) |
V271A |
possibly damaging |
Het |
| Zfp710 |
A |
G |
7: 79,731,134 (GRCm39) |
R104G |
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 |
|
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 |
|
|
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'- ACTGACAGCCTGGGTTCATAG -3'
(R):5'- CCAGGATCTGTGATCACCTC -3'
Sequencing Primer
(F):5'- ACTGACAGCCTGGGTTCATAGTATTC -3'
(R):5'- GGATCTGTGATCACCTCCAAAAGAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation