Incidental Mutation 'R5323:Pirb'
| ID |
404960 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pirb
|
| Ensembl Gene |
ENSMUSG00000058818 |
| Gene Name |
paired Ig-like receptor B |
| Synonyms |
Lilrb3, Gp91 |
| MMRRC Submission |
042906-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5323 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
3715504-3723381 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 3719598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 516
(I516S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078451]
|
| AlphaFold |
P97484 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078451
AA Change: I516S
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000077546
Gene: ENSMUSG00000058818
AA Change: I516S
| 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: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.7%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
T |
A |
7: 82,206,269 (GRCm39) |
C784S |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,745,989 (GRCm39) |
|
probably benign |
Het |
| Apon |
A |
G |
10: 128,090,907 (GRCm39) |
E195G |
probably damaging |
Het |
| Atxn10 |
A |
G |
15: 85,275,944 (GRCm39) |
I334V |
probably benign |
Het |
| Camsap1 |
G |
T |
2: 25,855,823 (GRCm39) |
A145E |
probably damaging |
Het |
| Capns1 |
G |
T |
7: 29,887,147 (GRCm39) |
F243L |
possibly damaging |
Het |
| Catsper2 |
A |
T |
2: 121,237,216 (GRCm39) |
I228N |
probably damaging |
Het |
| Ceacam14 |
A |
T |
7: 17,549,402 (GRCm39) |
*264C |
probably null |
Het |
| Cel |
A |
C |
2: 28,450,530 (GRCm39) |
V165G |
probably damaging |
Het |
| Cldnd1 |
T |
A |
16: 58,550,016 (GRCm39) |
D66E |
possibly damaging |
Het |
| Cntnap5b |
T |
A |
1: 100,311,275 (GRCm39) |
C589* |
probably null |
Het |
| Dnah3 |
T |
A |
7: 119,620,234 (GRCm39) |
H1554L |
probably damaging |
Het |
| Fbxw25 |
T |
A |
9: 109,492,573 (GRCm39) |
M55L |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,636,591 (GRCm39) |
H2187R |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,818,489 (GRCm39) |
T4741A |
possibly damaging |
Het |
| Gabpa |
T |
A |
16: 84,653,934 (GRCm39) |
I272N |
possibly damaging |
Het |
| Ganab |
T |
C |
19: 8,886,049 (GRCm39) |
S212P |
probably benign |
Het |
| Ggt1 |
A |
G |
10: 75,421,495 (GRCm39) |
|
probably null |
Het |
| Hpgds |
T |
C |
6: 65,109,169 (GRCm39) |
T81A |
probably benign |
Het |
| Insr |
G |
A |
8: 3,252,902 (GRCm39) |
T419I |
probably benign |
Het |
| Itgb7 |
A |
G |
15: 102,140,059 (GRCm39) |
|
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,799,289 (GRCm39) |
I951V |
possibly damaging |
Het |
| Lrrc4c |
T |
A |
2: 97,460,498 (GRCm39) |
C375S |
probably damaging |
Het |
| Muc17 |
G |
T |
5: 137,175,537 (GRCm39) |
C44* |
probably null |
Het |
| Mycbpap |
A |
T |
11: 94,394,330 (GRCm39) |
D313E |
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,813,931 (GRCm39) |
|
probably null |
Het |
| Ntsr2 |
C |
T |
12: 16,709,934 (GRCm39) |
S405F |
probably benign |
Het |
| Nup153 |
G |
A |
13: 46,870,682 (GRCm39) |
P21S |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,887,703 (GRCm39) |
E7705D |
probably benign |
Het |
| Ogn |
A |
G |
13: 49,762,817 (GRCm39) |
D53G |
probably benign |
Het |
| Or10d5j |
A |
T |
9: 39,868,125 (GRCm39) |
Y35* |
probably null |
Het |
| Or14j10 |
A |
T |
17: 37,935,046 (GRCm39) |
I160K |
probably benign |
Het |
| Or5k8 |
G |
A |
16: 58,645,066 (GRCm39) |
T2I |
probably benign |
Het |
| Or5p5 |
T |
C |
7: 107,413,883 (GRCm39) |
F33L |
possibly damaging |
Het |
| Or9i1b |
A |
T |
19: 13,896,980 (GRCm39) |
I199F |
possibly damaging |
Het |
| Pde6a |
G |
A |
18: 61,365,983 (GRCm39) |
R236H |
possibly damaging |
Het |
| Pigk |
T |
A |
3: 152,443,837 (GRCm39) |
M85K |
probably damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Pum2 |
T |
A |
12: 8,794,706 (GRCm39) |
I737N |
probably damaging |
Het |
| Recql5 |
A |
T |
11: 115,818,215 (GRCm39) |
C159S |
probably damaging |
Het |
| Rxrg |
A |
G |
1: 167,452,573 (GRCm39) |
N125S |
probably benign |
Het |
| Sgip1 |
C |
A |
4: 102,823,477 (GRCm39) |
N699K |
probably damaging |
Het |
| Shprh |
G |
A |
10: 11,046,041 (GRCm39) |
|
probably null |
Het |
| Smcp |
C |
T |
3: 92,491,454 (GRCm39) |
G131D |
unknown |
Het |
| St8sia6 |
A |
G |
2: 13,798,188 (GRCm39) |
L23P |
possibly damaging |
Het |
| Stk32c |
T |
A |
7: 138,699,276 (GRCm39) |
T335S |
probably benign |
Het |
| Stox1 |
G |
A |
10: 62,499,812 (GRCm39) |
A916V |
possibly damaging |
Het |
| Syk |
A |
T |
13: 52,785,753 (GRCm39) |
T297S |
probably benign |
Het |
| Tert |
G |
T |
13: 73,796,490 (GRCm39) |
A1074S |
probably benign |
Het |
| Tex9 |
A |
T |
9: 72,385,187 (GRCm39) |
D135E |
probably damaging |
Het |
| Tmem132a |
G |
A |
19: 10,841,371 (GRCm39) |
H318Y |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,738,249 (GRCm39) |
S4097P |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,553,874 (GRCm39) |
|
probably null |
Het |
| Usp36 |
A |
T |
11: 118,156,020 (GRCm39) |
S586T |
probably benign |
Het |
| Vsig8 |
A |
G |
1: 172,388,244 (GRCm39) |
S71G |
probably benign |
Het |
| Zfp318 |
G |
A |
17: 46,697,662 (GRCm39) |
D173N |
probably damaging |
Het |
| Zfp638 |
T |
A |
6: 83,939,076 (GRCm39) |
S936T |
probably damaging |
Het |
| Zic2 |
A |
G |
14: 122,713,728 (GRCm39) |
Y214C |
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 |
|
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'- AGGCTAGCTTCCTTGTTCTGAG -3'
(R):5'- AGCTGACATCATGCAGCAC -3'
Sequencing Primer
(F):5'- GTTCTGAGCTCCAATCACACATG -3'
(R):5'- GCTGACATCATGCAGCACTCTAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation