Incidental Mutation 'PIT4687001:Gp2'
| ID |
556188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gp2
|
| Ensembl Gene |
ENSMUSG00000030954 |
| Gene Name |
glycoprotein 2 zymogen granule membrane |
| Synonyms |
2310037I18Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4687001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
119041760-119058495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 119050801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 310
(R310H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033255]
[ENSMUST00000207887]
|
| AlphaFold |
Q9D733 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033255
AA Change: R310H
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000033255
Gene: ENSMUSG00000030954
AA Change: R310H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Blast:ZP
|
164 |
213 |
1e-11 |
BLAST |
|
ZP
|
225 |
477 |
5.39e-79 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207887
AA Change: R310H
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 93.4%
- 3x: 90.8%
- 10x: 84.7%
- 20x: 71.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein that is secreted from intracellular zymogen granules and associates with the plasma membrane via glycosylphosphatidylinositol (GPI) linkage. The encoded protein binds pathogens such as enterobacteria, thereby playing an important role in the innate immune response. The C-terminus of this protein is related to the C-terminus of the protein encoded by the neighboring gene, uromodulin (UMOD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygous null mice display no obvious abnormalities in pancreas morphology and function, development, growth, weight, behavior, life span, or fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh1 |
T |
G |
3: 137,995,596 (GRCm39) |
V333G |
probably damaging |
Het |
| Aggf1 |
A |
G |
13: 95,501,383 (GRCm39) |
L333P |
probably damaging |
Het |
| Ankmy1 |
A |
G |
1: 92,812,803 (GRCm39) |
V502A |
probably benign |
Het |
| Atm |
A |
G |
9: 53,398,112 (GRCm39) |
|
probably null |
Het |
| Ccdc180 |
A |
G |
4: 45,949,526 (GRCm39) |
T1594A |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,373,453 (GRCm39) |
D1244E |
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 64,670,385 (GRCm39) |
D638G |
probably damaging |
Het |
| Ctsr |
T |
C |
13: 61,308,346 (GRCm39) |
H266R |
possibly damaging |
Het |
| D630045J12Rik |
C |
T |
6: 38,172,036 (GRCm39) |
E711K |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,383,723 (GRCm39) |
S2982P |
probably damaging |
Het |
| Dsg1a |
G |
T |
18: 20,464,755 (GRCm39) |
A417S |
probably benign |
Het |
| Gdpd1 |
T |
C |
11: 86,950,366 (GRCm39) |
D69G |
probably damaging |
Het |
| Ifna2 |
G |
A |
4: 88,601,542 (GRCm39) |
H159Y |
possibly damaging |
Het |
| Kptn |
T |
C |
7: 15,859,751 (GRCm39) |
V325A |
probably damaging |
Het |
| Marchf7 |
A |
G |
2: 60,062,622 (GRCm39) |
E143G |
probably damaging |
Het |
| Mcm4 |
A |
G |
16: 15,454,577 (GRCm39) |
L47P |
probably benign |
Het |
| Mcm8 |
T |
C |
2: 132,659,097 (GRCm39) |
F27S |
possibly damaging |
Het |
| Nod2 |
T |
A |
8: 89,408,274 (GRCm39) |
V967E |
probably damaging |
Het |
| Nrxn2 |
G |
A |
19: 6,531,338 (GRCm39) |
R659Q |
probably benign |
Het |
| Or10al4 |
T |
G |
17: 38,037,082 (GRCm39) |
C56G |
probably benign |
Het |
| Or4x12-ps1 |
A |
G |
2: 89,916,733 (GRCm39) |
V24A |
probably benign |
Het |
| Parp10 |
C |
T |
15: 76,125,122 (GRCm39) |
R545Q |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 101,021,579 (GRCm39) |
E332G |
probably benign |
Het |
| Pramel27 |
C |
T |
4: 143,573,103 (GRCm39) |
|
probably benign |
Het |
| Ptpdc1 |
A |
G |
13: 48,739,766 (GRCm39) |
V555A |
probably benign |
Het |
| Qsox2 |
G |
A |
2: 26,112,300 (GRCm39) |
L81F |
possibly damaging |
Het |
| Sbsn |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
7: 30,452,391 (GRCm39) |
|
probably benign |
Het |
| Spata31 |
A |
G |
13: 65,069,151 (GRCm39) |
D433G |
probably benign |
Het |
| Stpg2 |
T |
C |
3: 138,921,026 (GRCm39) |
I77T |
possibly damaging |
Het |
| Sugp2 |
T |
C |
8: 70,710,162 (GRCm39) |
S928P |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,308,390 (GRCm39) |
S722P |
possibly damaging |
Het |
| Szt2 |
A |
T |
4: 118,255,398 (GRCm39) |
S229T |
possibly damaging |
Het |
| Tm9sf3 |
A |
G |
19: 41,206,630 (GRCm39) |
L505P |
probably damaging |
Het |
| Ttc39d |
G |
A |
17: 80,524,354 (GRCm39) |
A338T |
probably damaging |
Het |
| Ubash3b |
A |
G |
9: 40,934,814 (GRCm39) |
F489L |
probably damaging |
Het |
| Xpo7 |
A |
T |
14: 70,904,589 (GRCm39) |
Y1015N |
probably benign |
Het |
| Zbtb14 |
C |
A |
17: 69,695,302 (GRCm39) |
Y333* |
probably null |
Het |
| Zp2 |
T |
C |
7: 119,741,102 (GRCm39) |
T141A |
probably benign |
Het |
|
| Other mutations in Gp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00338:Gp2
|
APN |
7 |
119,053,613 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00818:Gp2
|
APN |
7 |
119,049,350 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01830:Gp2
|
APN |
7 |
119,050,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02088:Gp2
|
APN |
7 |
119,053,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02284:Gp2
|
APN |
7 |
119,049,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02812:Gp2
|
APN |
7 |
119,051,452 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03049:Gp2
|
APN |
7 |
119,049,517 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03368:Gp2
|
APN |
7 |
119,052,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03369:Gp2
|
APN |
7 |
119,050,783 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0179:Gp2
|
UTSW |
7 |
119,051,540 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0367:Gp2
|
UTSW |
7 |
119,053,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Gp2
|
UTSW |
7 |
119,053,719 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0973:Gp2
|
UTSW |
7 |
119,053,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Gp2
|
UTSW |
7 |
119,053,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0974:Gp2
|
UTSW |
7 |
119,053,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1413:Gp2
|
UTSW |
7 |
119,050,853 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1557:Gp2
|
UTSW |
7 |
119,049,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1638:Gp2
|
UTSW |
7 |
119,050,721 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1709:Gp2
|
UTSW |
7 |
119,050,808 (GRCm39) |
missense |
probably null |
1.00 |
|
R1932:Gp2
|
UTSW |
7 |
119,053,455 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2109:Gp2
|
UTSW |
7 |
119,052,155 (GRCm39) |
missense |
probably benign |
|
|
R2159:Gp2
|
UTSW |
7 |
119,051,507 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2285:Gp2
|
UTSW |
7 |
119,049,308 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4657:Gp2
|
UTSW |
7 |
119,056,391 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4829:Gp2
|
UTSW |
7 |
119,056,407 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4854:Gp2
|
UTSW |
7 |
119,051,422 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4927:Gp2
|
UTSW |
7 |
119,052,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5022:Gp2
|
UTSW |
7 |
119,048,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5033:Gp2
|
UTSW |
7 |
119,053,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5443:Gp2
|
UTSW |
7 |
119,053,821 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5444:Gp2
|
UTSW |
7 |
119,053,821 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5681:Gp2
|
UTSW |
7 |
119,051,517 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5732:Gp2
|
UTSW |
7 |
119,048,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5964:Gp2
|
UTSW |
7 |
119,048,352 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6963:Gp2
|
UTSW |
7 |
119,052,120 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7014:Gp2
|
UTSW |
7 |
119,050,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7087:Gp2
|
UTSW |
7 |
119,049,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7223:Gp2
|
UTSW |
7 |
119,050,721 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7497:Gp2
|
UTSW |
7 |
119,053,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8165:Gp2
|
UTSW |
7 |
119,049,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8343:Gp2
|
UTSW |
7 |
119,042,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8344:Gp2
|
UTSW |
7 |
119,042,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8345:Gp2
|
UTSW |
7 |
119,042,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8431:Gp2
|
UTSW |
7 |
119,042,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8432:Gp2
|
UTSW |
7 |
119,042,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8463:Gp2
|
UTSW |
7 |
119,053,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9169:Gp2
|
UTSW |
7 |
119,041,929 (GRCm39) |
missense |
probably benign |
|
|
R9439:Gp2
|
UTSW |
7 |
119,053,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Gp2
|
UTSW |
7 |
119,042,042 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGTGCCTTGATCATACTG -3'
(R):5'- TGGGAACACTGACCATAGAAC -3'
Sequencing Primer
(F):5'- CAGTGCCTTGATCATACTGAATGTTC -3'
(R):5'- GGGAACACTGACCATAGAACCAGAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation