Incidental Mutation 'R7947:Pirb'
| ID |
649402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pirb
|
| Ensembl Gene |
ENSMUSG00000058818 |
| Gene Name |
paired Ig-like receptor B |
| Synonyms |
Lilrb3, Gp91 |
| MMRRC Submission |
045992-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7947 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
3715504-3723381 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3722857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 45
(V45A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078451]
|
| AlphaFold |
P97484 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078451
AA Change: V45A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000077546
Gene: ENSMUSG00000058818
AA Change: V45A
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (60/61) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
A |
G |
16: 88,555,938 (GRCm39) |
T51A |
probably benign |
Het |
| Abcc8 |
A |
G |
7: 45,754,886 (GRCm39) |
|
probably null |
Het |
| Accs |
A |
T |
2: 93,674,602 (GRCm39) |
M123K |
probably damaging |
Het |
| Ace |
G |
A |
11: 105,863,880 (GRCm39) |
G443S |
possibly damaging |
Het |
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| Arhgap25 |
T |
C |
6: 87,440,069 (GRCm39) |
D526G |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,482,775 (GRCm39) |
L160P |
probably damaging |
Het |
| Arnt |
T |
G |
3: 95,381,837 (GRCm39) |
|
probably null |
Het |
| Art3 |
A |
G |
5: 92,540,359 (GRCm39) |
N34S |
possibly damaging |
Het |
| Avl9 |
A |
T |
6: 56,700,526 (GRCm39) |
E53D |
possibly damaging |
Het |
| AW209491 |
A |
T |
13: 14,811,447 (GRCm39) |
E100V |
probably benign |
Het |
| Axin2 |
T |
C |
11: 108,814,529 (GRCm39) |
I139T |
probably damaging |
Het |
| Birc7 |
G |
T |
2: 180,575,103 (GRCm39) |
V280L |
probably damaging |
Het |
| Bmal1 |
T |
C |
7: 112,886,353 (GRCm39) |
Y137H |
probably damaging |
Het |
| C1ra |
A |
G |
6: 124,494,338 (GRCm39) |
N262D |
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,348,001 (GRCm39) |
F696L |
probably benign |
Het |
| Casp14 |
T |
A |
10: 78,550,079 (GRCm39) |
|
probably null |
Het |
| Ciao2a |
A |
G |
9: 66,045,684 (GRCm39) |
I151V |
probably benign |
Het |
| Crlf1 |
T |
C |
8: 70,951,862 (GRCm39) |
Y176H |
probably damaging |
Het |
| Dnajb4 |
A |
T |
3: 151,892,468 (GRCm39) |
S122T |
probably benign |
Het |
| Dthd1 |
G |
A |
5: 62,971,653 (GRCm39) |
D159N |
possibly damaging |
Het |
| Erich6 |
A |
T |
3: 58,528,699 (GRCm39) |
I517N |
possibly damaging |
Het |
| Fam118b |
T |
A |
9: 35,129,239 (GRCm39) |
H343L |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,178,560 (GRCm39) |
D1500V |
probably damaging |
Het |
| Fcgbp |
T |
C |
7: 27,803,595 (GRCm39) |
|
probably null |
Het |
| Fgfrl1 |
A |
G |
5: 108,853,142 (GRCm39) |
D255G |
probably damaging |
Het |
| Gm9611 |
G |
A |
14: 42,118,087 (GRCm39) |
Q82* |
probably null |
Het |
| Ifit3 |
G |
T |
19: 34,565,359 (GRCm39) |
E302* |
probably null |
Het |
| Igkv3-9 |
G |
A |
6: 70,565,737 (GRCm39) |
C112Y |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,148,792 (GRCm39) |
T233A |
probably benign |
Het |
| Khnyn |
A |
T |
14: 56,125,059 (GRCm39) |
S438C |
probably damaging |
Het |
| Kifc1 |
T |
C |
17: 34,102,849 (GRCm39) |
R192G |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,919,951 (GRCm39) |
S98P |
unknown |
Het |
| Krt1c |
A |
T |
15: 101,724,769 (GRCm39) |
D280E |
probably damaging |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,295,200 (GRCm39) |
I5344V |
probably damaging |
Het |
| Mcf2l |
A |
T |
8: 13,053,529 (GRCm39) |
|
probably null |
Het |
| Mms22l |
A |
C |
4: 24,505,373 (GRCm39) |
H211P |
probably damaging |
Het |
| Nipsnap1 |
A |
G |
11: 4,839,145 (GRCm39) |
R163G |
possibly damaging |
Het |
| Nusap1 |
A |
G |
2: 119,477,616 (GRCm39) |
N375S |
possibly damaging |
Het |
| Or51t4 |
A |
G |
7: 102,598,278 (GRCm39) |
Y202C |
probably damaging |
Het |
| Or52e19b |
A |
T |
7: 103,032,735 (GRCm39) |
V158D |
possibly damaging |
Het |
| Or8g17 |
A |
G |
9: 38,930,747 (GRCm39) |
L30P |
probably damaging |
Het |
| Phf14 |
G |
A |
6: 11,933,306 (GRCm39) |
G56D |
unknown |
Het |
| Phykpl |
G |
A |
11: 51,477,408 (GRCm39) |
V67M |
probably damaging |
Het |
| Pigk |
A |
G |
3: 152,453,404 (GRCm39) |
D374G |
probably benign |
Het |
| Prm3 |
CTCTTCTTCTTCTTC |
CTCTTCTTCTTC |
16: 10,608,565 (GRCm39) |
|
probably benign |
Het |
| Rb1cc1 |
T |
C |
1: 6,318,786 (GRCm39) |
V735A |
probably damaging |
Het |
| Rcor2 |
A |
G |
19: 7,251,225 (GRCm39) |
T333A |
possibly damaging |
Het |
| Ret |
A |
G |
6: 118,151,305 (GRCm39) |
V593A |
probably benign |
Het |
| Scgb1b10 |
A |
T |
7: 31,800,570 (GRCm39) |
D53V |
probably damaging |
Het |
| Sec61a2 |
G |
A |
2: 5,881,794 (GRCm39) |
A212V |
probably damaging |
Het |
| Sgpl1 |
A |
T |
10: 60,942,121 (GRCm39) |
F245I |
probably damaging |
Het |
| Sh2d4b |
A |
C |
14: 40,542,723 (GRCm39) |
V351G |
probably damaging |
Het |
| Shld2 |
C |
T |
14: 33,990,436 (GRCm39) |
V157I |
probably benign |
Het |
| Slc22a1 |
T |
A |
17: 12,871,310 (GRCm39) |
M484L |
probably benign |
Het |
| Slit1 |
C |
G |
19: 41,599,247 (GRCm39) |
G1066R |
probably damaging |
Het |
| Slit1 |
A |
T |
19: 41,599,248 (GRCm39) |
D1065E |
probably benign |
Het |
| Spg11 |
G |
A |
2: 121,922,803 (GRCm39) |
A882V |
probably damaging |
Het |
| Stab2 |
A |
C |
10: 86,681,897 (GRCm39) |
F2501L |
probably benign |
Het |
| Stim2 |
A |
T |
5: 54,275,671 (GRCm39) |
K607N |
probably damaging |
Het |
| Syde1 |
C |
T |
10: 78,425,916 (GRCm39) |
V84M |
probably damaging |
Het |
| Tepsin |
A |
T |
11: 119,985,061 (GRCm39) |
N202K |
probably benign |
Het |
| Tmem207 |
T |
A |
16: 26,335,495 (GRCm39) |
I81F |
possibly damaging |
Het |
| Tnc |
C |
A |
4: 63,935,580 (GRCm39) |
G452V |
probably damaging |
Het |
| Tshz1 |
G |
T |
18: 84,033,782 (GRCm39) |
Q209K |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,773,696 (GRCm39) |
N2308K |
unknown |
Het |
| Zfp266 |
A |
G |
9: 20,410,548 (GRCm39) |
I543T |
probably benign |
Het |
| Zfp777 |
G |
T |
6: 48,001,645 (GRCm39) |
P815Q |
probably damaging |
Het |
| Zhx3 |
A |
G |
2: 160,623,015 (GRCm39) |
I384T |
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 |
|
|
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'- TGGGTGCTGTAGGAACATCG -3'
(R):5'- TGCAGCTGACCTGAAATGCTC -3'
Sequencing Primer
(F):5'- CTGTAGGAACATCGATATTGACCTGC -3'
(R):5'- TCATATCCAGGAGCCATGCCTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation