Incidental Mutation 'R6502:Pirb'
| ID |
519789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pirb
|
| Ensembl Gene |
ENSMUSG00000058818 |
| Gene Name |
paired Ig-like receptor B |
| Synonyms |
Lilrb3, Gp91 |
| MMRRC Submission |
044634-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6502 (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 T
at 3720392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 327
(V327E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078451]
|
| AlphaFold |
P97484 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078451
AA Change: V327E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000077546
Gene: ENSMUSG00000058818
AA Change: V327E
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
A |
T |
6: 124,333,908 (GRCm39) |
I24K |
probably benign |
Het |
| Adamts9 |
A |
T |
6: 92,849,316 (GRCm39) |
C467S |
probably damaging |
Het |
| Adcy7 |
G |
A |
8: 89,052,107 (GRCm39) |
R925Q |
probably damaging |
Het |
| Akap6 |
G |
A |
12: 53,186,998 (GRCm39) |
G1471S |
probably damaging |
Het |
| Ap2b1 |
T |
C |
11: 83,233,505 (GRCm39) |
V506A |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,051,814 (GRCm39) |
I1113M |
probably damaging |
Het |
| Arsg |
A |
T |
11: 109,408,162 (GRCm39) |
N105Y |
probably damaging |
Het |
| Blm |
T |
A |
7: 80,131,223 (GRCm39) |
Y872F |
probably damaging |
Het |
| Btaf1 |
A |
T |
19: 36,961,017 (GRCm39) |
N797Y |
probably benign |
Het |
| Camsap1 |
T |
C |
2: 25,846,320 (GRCm39) |
E201G |
probably damaging |
Het |
| Ccdc122 |
T |
A |
14: 77,279,509 (GRCm39) |
|
probably null |
Homo |
| Ccdc141 |
A |
G |
2: 77,000,745 (GRCm39) |
V29A |
probably damaging |
Het |
| Cd244a |
T |
A |
1: 171,405,447 (GRCm39) |
D277E |
probably benign |
Het |
| Cfap157 |
T |
C |
2: 32,670,690 (GRCm39) |
Y186C |
probably damaging |
Het |
| Ciita |
C |
T |
16: 10,329,774 (GRCm39) |
A686V |
probably damaging |
Het |
| Clptm1l |
T |
C |
13: 73,765,884 (GRCm39) |
|
probably null |
Het |
| Col16a1 |
C |
T |
4: 129,949,787 (GRCm39) |
P50L |
probably damaging |
Het |
| Crisp3 |
A |
T |
17: 40,546,804 (GRCm39) |
V38D |
probably damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,112,173 (GRCm39) |
E1010G |
probably damaging |
Het |
| Dvl3 |
G |
A |
16: 20,346,133 (GRCm39) |
E488K |
probably damaging |
Het |
| Eed |
C |
A |
7: 89,626,237 (GRCm39) |
E45D |
probably benign |
Het |
| Eln |
A |
G |
5: 134,754,628 (GRCm39) |
|
probably benign |
Het |
| Fah |
T |
A |
7: 84,244,043 (GRCm39) |
I239F |
probably damaging |
Het |
| Fbxw5 |
T |
A |
2: 25,392,448 (GRCm39) |
Y77N |
possibly damaging |
Het |
| Garnl3 |
T |
C |
2: 32,896,833 (GRCm39) |
E602G |
possibly damaging |
Het |
| Gkn3 |
A |
T |
6: 87,365,786 (GRCm39) |
M11K |
probably benign |
Het |
| Glt1d1 |
A |
G |
5: 127,784,045 (GRCm39) |
Y333C |
probably damaging |
Het |
| Gm10762 |
A |
T |
2: 128,809,090 (GRCm39) |
Y86* |
probably null |
Het |
| Gm14496 |
A |
G |
2: 181,642,386 (GRCm39) |
M686V |
probably benign |
Het |
| Gse1 |
T |
A |
8: 121,280,428 (GRCm39) |
|
probably null |
Het |
| Herc4 |
C |
A |
10: 63,153,197 (GRCm39) |
T1035K |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,272,490 (GRCm39) |
N1323K |
probably damaging |
Het |
| Hnrnpd |
T |
A |
5: 100,114,025 (GRCm39) |
E3D |
probably damaging |
Het |
| Htr7 |
T |
A |
19: 35,947,010 (GRCm39) |
I335F |
probably damaging |
Het |
| Ift70b |
T |
A |
2: 75,767,448 (GRCm39) |
N435I |
possibly damaging |
Het |
| Itgae |
A |
T |
11: 73,036,418 (GRCm39) |
I1119F |
probably benign |
Het |
| Lcn11 |
T |
C |
2: 25,669,103 (GRCm39) |
F137S |
probably benign |
Het |
| Lrp3 |
T |
G |
7: 34,903,413 (GRCm39) |
D311A |
possibly damaging |
Het |
| Lrrc1 |
G |
T |
9: 77,349,473 (GRCm39) |
D364E |
probably damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,383,005 (GRCm39) |
E2456V |
unknown |
Het |
| Lrriq1 |
T |
C |
10: 103,063,045 (GRCm39) |
Y87C |
probably damaging |
Het |
| Mcc |
A |
T |
18: 44,601,457 (GRCm39) |
L449* |
probably null |
Het |
| Mcc |
A |
T |
18: 44,601,458 (GRCm39) |
L624M |
probably damaging |
Het |
| Mcm9 |
T |
C |
10: 53,488,935 (GRCm39) |
T496A |
probably damaging |
Het |
| Myef2 |
T |
A |
2: 124,958,602 (GRCm39) |
D109V |
probably damaging |
Het |
| Myom3 |
C |
T |
4: 135,489,824 (GRCm39) |
|
probably benign |
Het |
| Nanos1 |
G |
T |
19: 60,744,977 (GRCm39) |
G92W |
possibly damaging |
Het |
| Ncor1 |
T |
A |
11: 62,272,240 (GRCm39) |
K84* |
probably null |
Het |
| Neb |
T |
A |
2: 52,181,094 (GRCm39) |
D1171V |
probably benign |
Het |
| Notch3 |
A |
G |
17: 32,377,191 (GRCm39) |
W267R |
probably damaging |
Het |
| Or5d39 |
A |
T |
2: 87,980,360 (GRCm39) |
M1K |
probably null |
Het |
| Or8d1 |
A |
C |
9: 38,766,933 (GRCm39) |
T192P |
probably damaging |
Het |
| Per2 |
A |
G |
1: 91,355,485 (GRCm39) |
S758P |
probably benign |
Het |
| Pi4k2a |
A |
G |
19: 42,079,371 (GRCm39) |
Q144R |
probably benign |
Het |
| Pla2g4a |
C |
T |
1: 149,748,367 (GRCm39) |
W272* |
probably null |
Het |
| Plekha4 |
T |
A |
7: 45,180,000 (GRCm39) |
M1K |
probably null |
Het |
| Ppt2 |
A |
G |
17: 34,844,894 (GRCm39) |
C117R |
probably damaging |
Het |
| Prph |
A |
T |
15: 98,954,267 (GRCm39) |
I222F |
probably damaging |
Het |
| Rbm43 |
T |
C |
2: 51,815,588 (GRCm39) |
D211G |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,398,251 (GRCm39) |
D1072G |
probably benign |
Het |
| Rnf123 |
G |
T |
9: 107,945,531 (GRCm39) |
Q380K |
possibly damaging |
Het |
| Rnf145 |
T |
C |
11: 44,415,932 (GRCm39) |
F49S |
probably damaging |
Het |
| Sall4 |
A |
G |
2: 168,597,628 (GRCm39) |
I404T |
probably damaging |
Het |
| Slc25a39 |
G |
A |
11: 102,295,286 (GRCm39) |
P228L |
probably damaging |
Het |
| Tbc1d14 |
T |
C |
5: 36,677,825 (GRCm39) |
T377A |
possibly damaging |
Het |
| Tbc1d17 |
A |
G |
7: 44,491,049 (GRCm39) |
I555T |
probably benign |
Het |
| Tmem131l |
A |
T |
3: 83,829,715 (GRCm39) |
S980T |
probably damaging |
Het |
| Tmem14a |
G |
T |
1: 21,299,662 (GRCm39) |
L97F |
possibly damaging |
Het |
| Tmem98 |
T |
C |
11: 80,703,461 (GRCm39) |
V26A |
probably benign |
Het |
| Tmppe |
G |
T |
9: 114,234,720 (GRCm39) |
G340W |
probably damaging |
Het |
| Tsc1 |
T |
C |
2: 28,555,613 (GRCm39) |
S237P |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,171,982 (GRCm39) |
R2992W |
probably damaging |
Het |
| Ugt2a2 |
A |
G |
5: 87,608,318 (GRCm39) |
V673A |
possibly damaging |
Het |
| Vmn2r19 |
T |
C |
6: 123,293,067 (GRCm39) |
Y370H |
possibly damaging |
Het |
| Vmn2r20 |
A |
G |
6: 123,373,342 (GRCm39) |
F500S |
possibly damaging |
Het |
| Zc3h7b |
A |
G |
15: 81,653,252 (GRCm39) |
Y47C |
probably benign |
Het |
| Zdhhc13 |
A |
G |
7: 48,465,308 (GRCm39) |
E406G |
possibly damaging |
Het |
| Zfp418 |
T |
C |
7: 7,185,599 (GRCm39) |
S521P |
possibly 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 |
|
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'- TGTGGGTCCTATAATAAACAGGGC -3'
(R):5'- CGCTGTTATTGTTACGGCTCAG -3'
Sequencing Primer
(F):5'- TAATAAACAGGGCTCGGTACTGTCC -3'
(R):5'- TCAGCTGGTTGGTCACAGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation