Incidental Mutation 'R5244:Pirb'
| ID |
401048 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pirb
|
| Ensembl Gene |
ENSMUSG00000058818 |
| Gene Name |
paired Ig-like receptor B |
| Synonyms |
Lilrb3, Gp91 |
| MMRRC Submission |
042815-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5244 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
3715504-3723381 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 3719062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 609
(A609V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078451]
|
| AlphaFold |
P97484 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078451
AA Change: A609V
PolyPhen 2
Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000077546
Gene: ENSMUSG00000058818
AA Change: A609V
| 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: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
97% (63/65) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
G |
T |
9: 53,323,098 (GRCm39) |
G45W |
probably damaging |
Het |
| Abca13 |
C |
T |
11: 9,225,081 (GRCm39) |
T520I |
probably benign |
Het |
| Adamtsl3 |
C |
T |
7: 82,247,277 (GRCm39) |
P485L |
probably benign |
Het |
| Bbof1 |
A |
C |
12: 84,476,847 (GRCm39) |
E492A |
possibly damaging |
Het |
| Capn11 |
T |
C |
17: 45,944,818 (GRCm39) |
E483G |
probably damaging |
Het |
| Cbs |
C |
T |
17: 31,836,134 (GRCm39) |
G438D |
probably damaging |
Het |
| Chil6 |
A |
G |
3: 106,297,290 (GRCm39) |
Y284H |
probably damaging |
Het |
| Cops4 |
C |
A |
5: 100,681,241 (GRCm39) |
Q131K |
probably benign |
Het |
| Cul4a |
T |
C |
8: 13,196,566 (GRCm39) |
I740T |
probably damaging |
Het |
| Cyfip1 |
C |
T |
7: 55,574,947 (GRCm39) |
T1066I |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,273,018 (GRCm39) |
L2382P |
probably damaging |
Het |
| Ehd3 |
A |
T |
17: 74,136,995 (GRCm39) |
H388L |
probably benign |
Het |
| Fam13a |
G |
T |
6: 58,930,459 (GRCm39) |
Y484* |
probably null |
Het |
| Gm5117 |
A |
G |
8: 32,228,305 (GRCm39) |
|
noncoding transcript |
Het |
| Gulp1 |
G |
A |
1: 44,827,613 (GRCm39) |
D260N |
probably damaging |
Het |
| Hhipl1 |
T |
A |
12: 108,278,393 (GRCm39) |
N240K |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,259,451 (GRCm39) |
E2474D |
possibly damaging |
Het |
| Ifi207 |
C |
T |
1: 173,557,503 (GRCm39) |
V412I |
probably benign |
Het |
| Ighv9-4 |
T |
C |
12: 114,263,871 (GRCm39) |
I21V |
probably benign |
Het |
| Kcnh1 |
A |
T |
1: 191,907,184 (GRCm39) |
T79S |
probably benign |
Het |
| Kpna6 |
A |
G |
4: 129,549,221 (GRCm39) |
|
probably null |
Het |
| Lnpk |
C |
T |
2: 74,362,232 (GRCm39) |
G262D |
probably damaging |
Het |
| Lsm7 |
T |
C |
10: 80,688,907 (GRCm39) |
E66G |
probably benign |
Het |
| Mbd3l1 |
T |
A |
9: 18,395,933 (GRCm39) |
C19* |
probably null |
Het |
| Mfsd6l |
T |
A |
11: 68,448,001 (GRCm39) |
L284Q |
possibly damaging |
Het |
| Naip5 |
C |
T |
13: 100,382,170 (GRCm39) |
V180I |
probably benign |
Het |
| Or2ag1b |
T |
A |
7: 106,288,396 (GRCm39) |
I181F |
probably benign |
Het |
| Or2j6 |
A |
T |
7: 139,980,051 (GRCm39) |
C303S |
probably benign |
Het |
| Or4k39 |
T |
A |
2: 111,238,899 (GRCm39) |
|
noncoding transcript |
Het |
| Or6d13 |
T |
A |
6: 116,518,187 (GRCm39) |
Y258N |
probably damaging |
Het |
| Or7g22 |
A |
T |
9: 19,049,147 (GRCm39) |
N286I |
probably damaging |
Het |
| Or8g20 |
T |
G |
9: 39,395,808 (GRCm39) |
H247P |
probably damaging |
Het |
| Or8u10 |
C |
G |
2: 85,915,300 (GRCm39) |
A274P |
probably damaging |
Het |
| Pck1 |
T |
A |
2: 172,996,656 (GRCm39) |
I190N |
possibly damaging |
Het |
| Pfkfb3 |
T |
A |
2: 11,489,660 (GRCm39) |
I209F |
probably damaging |
Het |
| Phc1 |
A |
G |
6: 122,298,938 (GRCm39) |
S677P |
probably damaging |
Het |
| Plag1 |
A |
T |
4: 3,903,887 (GRCm39) |
S435T |
probably benign |
Het |
| Plscr2 |
C |
G |
9: 92,173,102 (GRCm39) |
L215V |
probably benign |
Het |
| Pnma8a |
A |
G |
7: 16,695,248 (GRCm39) |
S368G |
probably damaging |
Het |
| Polr2b |
A |
G |
5: 77,490,847 (GRCm39) |
|
probably benign |
Het |
| Pthlh |
T |
C |
6: 147,158,651 (GRCm39) |
Y103C |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,422,556 (GRCm39) |
V1612A |
possibly damaging |
Het |
| Rprd2 |
T |
A |
3: 95,697,494 (GRCm39) |
I85L |
possibly damaging |
Het |
| Slc27a2 |
T |
C |
2: 126,420,775 (GRCm39) |
V422A |
probably benign |
Het |
| Slc29a1 |
T |
C |
17: 45,899,339 (GRCm39) |
|
probably benign |
Het |
| Slc36a4 |
A |
T |
9: 15,645,574 (GRCm39) |
I334F |
probably benign |
Het |
| Slc4a10 |
T |
A |
2: 62,119,069 (GRCm39) |
S761R |
probably damaging |
Het |
| Spa17 |
T |
A |
9: 37,523,285 (GRCm39) |
M1L |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Stk19 |
A |
G |
17: 35,051,046 (GRCm39) |
L72P |
probably damaging |
Het |
| Trhde |
T |
C |
10: 114,636,986 (GRCm39) |
M74V |
probably benign |
Het |
| Trim37 |
C |
T |
11: 87,109,083 (GRCm39) |
H937Y |
probably benign |
Het |
| Ttc7b |
A |
G |
12: 100,314,269 (GRCm39) |
L46P |
probably damaging |
Het |
| Ttll4 |
T |
C |
1: 74,735,607 (GRCm39) |
V1005A |
probably benign |
Het |
| Ugt2b36 |
T |
C |
5: 87,239,765 (GRCm39) |
T207A |
probably damaging |
Het |
| Unc13c |
C |
T |
9: 73,433,233 (GRCm39) |
|
probably null |
Het |
| Vmn1r221 |
T |
C |
13: 23,401,808 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r101 |
T |
C |
17: 19,831,788 (GRCm39) |
S595P |
probably damaging |
Het |
| Wnt10a |
T |
C |
1: 74,842,454 (GRCm39) |
L310P |
probably damaging |
Het |
| Yif1b |
G |
A |
7: 28,943,866 (GRCm39) |
A115T |
probably damaging |
Het |
| Zfp219 |
C |
A |
14: 52,245,999 (GRCm39) |
R331L |
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 |
|
|
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'- GCACTGCTAGCATTAATTCCTCTG -3'
(R):5'- ACAGTGCACTCAGGAGAGAC -3'
Sequencing Primer
(F):5'- TAATTCCTCTGCCAGGGAAACTG -3'
(R):5'- TCAATGGACTCTGTGGATACTTTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation