Incidental Mutation 'R4870:Pirb'
| ID |
376498 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pirb
|
| Ensembl Gene |
ENSMUSG00000058818 |
| Gene Name |
paired Ig-like receptor B |
| Synonyms |
Lilrb3, Gp91 |
| MMRRC Submission |
042480-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4870 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
3715504-3723381 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3715661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 839
(M839L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078451]
|
| AlphaFold |
P97484 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078451
AA Change: M839L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000077546
Gene: ENSMUSG00000058818
AA Change: M839L
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
100% (77/77) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
T |
2: 69,069,540 (GRCm39) |
I1285N |
probably damaging |
Het |
| Abcc8 |
G |
A |
7: 45,756,683 (GRCm39) |
R721* |
probably null |
Het |
| Alox8 |
T |
C |
11: 69,077,394 (GRCm39) |
Y423C |
probably damaging |
Het |
| Ankle2 |
T |
A |
5: 110,399,344 (GRCm39) |
|
probably null |
Het |
| Cdc14a |
A |
G |
3: 116,217,109 (GRCm39) |
I9T |
probably benign |
Het |
| Ceacam18 |
T |
C |
7: 43,291,328 (GRCm39) |
C257R |
probably damaging |
Het |
| Cilp |
T |
C |
9: 65,186,980 (GRCm39) |
V1025A |
probably damaging |
Het |
| Clcn7 |
G |
T |
17: 25,372,539 (GRCm39) |
|
probably benign |
Het |
| Csnk1d |
A |
T |
11: 120,874,014 (GRCm39) |
|
probably benign |
Het |
| Cyp11b2 |
A |
G |
15: 74,724,995 (GRCm39) |
S285P |
probably benign |
Het |
| Dip2b |
T |
A |
15: 100,093,665 (GRCm39) |
|
probably null |
Het |
| Dmrt1 |
T |
A |
19: 25,483,219 (GRCm39) |
M1K |
probably null |
Het |
| Dnajc14 |
T |
C |
10: 128,653,219 (GRCm39) |
V684A |
probably benign |
Het |
| Dnmt3b |
A |
G |
2: 153,512,284 (GRCm39) |
Q335R |
probably benign |
Het |
| Exoc3l2 |
T |
A |
7: 19,229,117 (GRCm39) |
C772S |
unknown |
Het |
| F2rl1 |
A |
T |
13: 95,650,492 (GRCm39) |
F130Y |
probably damaging |
Het |
| Galk2 |
C |
G |
2: 125,771,557 (GRCm39) |
S194* |
probably null |
Het |
| Garre1 |
C |
A |
7: 33,984,312 (GRCm39) |
V104L |
possibly damaging |
Het |
| Gpbp1l1 |
A |
G |
4: 116,430,714 (GRCm39) |
T62A |
probably benign |
Het |
| H2-Q10 |
A |
T |
17: 35,781,357 (GRCm39) |
D53V |
probably damaging |
Het |
| H2-T22 |
T |
C |
17: 36,349,924 (GRCm39) |
K356R |
probably benign |
Het |
| Insrr |
G |
A |
3: 87,718,911 (GRCm39) |
V956M |
probably damaging |
Het |
| Ints7 |
A |
G |
1: 191,328,443 (GRCm39) |
T239A |
probably damaging |
Het |
| Isl1 |
A |
G |
13: 116,444,806 (GRCm39) |
|
probably benign |
Het |
| Kcng2 |
A |
G |
18: 80,366,083 (GRCm39) |
C90R |
probably benign |
Het |
| Kif3c |
C |
T |
12: 3,451,735 (GRCm39) |
P171S |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,911,994 (GRCm39) |
T1704A |
probably benign |
Het |
| Lats1 |
A |
G |
10: 7,581,549 (GRCm39) |
Y778C |
probably damaging |
Het |
| Limd2 |
T |
C |
11: 106,050,215 (GRCm39) |
M1V |
probably null |
Het |
| Mcm10 |
A |
T |
2: 5,008,970 (GRCm39) |
I333N |
probably damaging |
Het |
| Mipep |
T |
A |
14: 61,040,329 (GRCm39) |
L283* |
probably null |
Het |
| Mixl1 |
A |
G |
1: 180,522,237 (GRCm39) |
S215P |
probably benign |
Het |
| Mmp21 |
A |
G |
7: 133,280,406 (GRCm39) |
L188P |
probably damaging |
Het |
| Mob1a |
T |
C |
6: 83,317,221 (GRCm39) |
S213P |
probably benign |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Ndufaf6 |
T |
C |
4: 11,060,917 (GRCm39) |
T220A |
probably benign |
Het |
| Nr4a3 |
A |
T |
4: 48,051,651 (GRCm39) |
Y135F |
possibly damaging |
Het |
| Ntn1 |
CCTTCTTCT |
CCTTCT |
11: 68,103,852 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
T |
11: 59,027,032 (GRCm39) |
L57Q |
probably damaging |
Het |
| Or52e19b |
T |
A |
7: 103,032,840 (GRCm39) |
D123V |
probably damaging |
Het |
| Or5d35 |
T |
C |
2: 87,855,804 (GRCm39) |
L246P |
probably damaging |
Het |
| Plcl2 |
A |
G |
17: 50,914,254 (GRCm39) |
E421G |
possibly damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,876,771 (GRCm39) |
N99S |
probably benign |
Het |
| Ptpro |
A |
G |
6: 137,354,130 (GRCm39) |
K169E |
probably damaging |
Het |
| Rita1 |
T |
A |
5: 120,749,448 (GRCm39) |
K88N |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,303,776 (GRCm39) |
K370* |
probably null |
Het |
| Simc1 |
A |
G |
13: 54,687,576 (GRCm39) |
D115G |
probably null |
Het |
| Stab1 |
T |
A |
14: 30,864,000 (GRCm39) |
N136I |
probably benign |
Het |
| Syt4 |
T |
A |
18: 31,580,409 (GRCm39) |
|
probably benign |
Het |
| Sytl2 |
A |
T |
7: 90,038,106 (GRCm39) |
N522I |
probably damaging |
Het |
| Tax1bp1 |
A |
G |
6: 52,706,478 (GRCm39) |
|
probably benign |
Het |
| Tenm2 |
A |
T |
11: 35,969,396 (GRCm39) |
D847E |
probably damaging |
Het |
| Th |
G |
T |
7: 142,447,834 (GRCm39) |
D321E |
probably benign |
Het |
| Tmem44 |
A |
T |
16: 30,359,591 (GRCm39) |
L46Q |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,087,122 (GRCm39) |
L178P |
probably damaging |
Het |
| Trp63 |
A |
G |
16: 25,684,968 (GRCm39) |
*285W |
probably null |
Het |
| Tsen34 |
T |
C |
7: 3,697,380 (GRCm39) |
|
probably benign |
Het |
| Tssk4 |
C |
T |
14: 55,889,272 (GRCm39) |
T256I |
probably benign |
Het |
| Ttc17 |
A |
T |
2: 94,196,954 (GRCm39) |
N464K |
probably damaging |
Het |
| Ttll2 |
C |
T |
17: 7,618,998 (GRCm39) |
V310I |
probably benign |
Het |
| Ubn1 |
A |
G |
16: 4,895,177 (GRCm39) |
E741G |
probably damaging |
Het |
| Urad |
T |
A |
5: 147,252,264 (GRCm39) |
I63F |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,852,858 (GRCm39) |
T701A |
probably benign |
Het |
| Vmn2r58 |
A |
G |
7: 41,486,639 (GRCm39) |
V752A |
possibly damaging |
Het |
| Vmn2r69 |
C |
A |
7: 85,060,793 (GRCm39) |
V264L |
possibly damaging |
Het |
| Zfp292 |
A |
G |
4: 34,808,917 (GRCm39) |
S1376P |
probably damaging |
Het |
| Zfp955a |
G |
A |
17: 33,460,699 (GRCm39) |
R478* |
probably null |
Het |
| Znfx1 |
A |
C |
2: 166,897,189 (GRCm39) |
F578L |
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 |
|
|
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'- TAGCACTCAATGTAAAACCTTCCCTTC -3'
(R):5'- GGTTTCCCCAAGCAAATCAC -3'
Sequencing Primer
(F):5'- AATGTAAAACCTTCCCTTCCATTTC -3'
(R):5'- AAGCAAATCACATACCTTTCTCTC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation