Incidental Mutation 'R2309:Serpini2'
| ID |
244700 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpini2
|
| Ensembl Gene |
ENSMUSG00000034139 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade I, member 2 |
| Synonyms |
1810006A24Rik |
| MMRRC Submission |
040308-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R2309 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
75149677-75177385 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75166997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 87
(S87P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039047]
|
| AlphaFold |
Q9JK88 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039047
AA Change: S87P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000046943
Gene: ENSMUSG00000034139
AA Change: S87P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
SERPIN
|
31 |
392 |
8.75e-130 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a member of a family of proteins that acts as inhibitors of serine proteases. These proteins function in the regulation of a variety of physiological processes, including coagulation, fibrinolysis, development, malignancy, and inflammation. Expression of the encoded protein may be downregulated during pancreatic carcinogenesis. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a transgene insertion/deletion encompassing this gene display pancreatic insufficiency characterized by progressive apoptosis of pancreatic acinar cells, postnatal growth retardation, immunological anomalies, and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
G |
T |
6: 86,073,783 (GRCm39) |
C224F |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,757,818 (GRCm39) |
I837M |
probably damaging |
Het |
| Baat |
T |
C |
4: 49,499,718 (GRCm39) |
Y196C |
probably damaging |
Het |
| Cd19 |
T |
C |
7: 126,013,447 (GRCm39) |
N114S |
probably benign |
Het |
| Cldn24 |
T |
G |
8: 48,275,774 (GRCm39) |
Y199* |
probably null |
Het |
| Il1rl1 |
A |
G |
1: 40,481,817 (GRCm39) |
D175G |
possibly damaging |
Het |
| Kcnh8 |
T |
A |
17: 53,285,067 (GRCm39) |
D1012E |
probably damaging |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Med23 |
T |
G |
10: 24,746,586 (GRCm39) |
D35E |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,455,638 (GRCm39) |
D2512G |
probably damaging |
Het |
| Nfatc4 |
A |
T |
14: 56,064,461 (GRCm39) |
D246V |
probably damaging |
Het |
| Nlrp9c |
C |
A |
7: 26,077,512 (GRCm39) |
V757F |
probably damaging |
Het |
| Or12e8 |
T |
C |
2: 87,188,298 (GRCm39) |
F170S |
probably damaging |
Het |
| Pcnt |
T |
A |
10: 76,278,460 (GRCm39) |
|
probably benign |
Het |
| Qsox2 |
T |
C |
2: 26,118,445 (GRCm39) |
I109V |
possibly damaging |
Het |
| Rnf17 |
A |
G |
14: 56,743,439 (GRCm39) |
K1335R |
possibly damaging |
Het |
| Serpina6 |
A |
G |
12: 103,620,438 (GRCm39) |
Y104H |
probably benign |
Het |
| Setx |
G |
A |
2: 29,048,916 (GRCm39) |
V1981M |
probably damaging |
Het |
| Sgpp2 |
T |
C |
1: 78,393,986 (GRCm39) |
F330L |
probably damaging |
Het |
| Slc6a6 |
G |
C |
6: 91,703,177 (GRCm39) |
W183C |
possibly damaging |
Het |
| Ttll9 |
A |
G |
2: 152,826,065 (GRCm39) |
K81E |
probably damaging |
Het |
| Ulbp1 |
G |
A |
10: 7,397,388 (GRCm39) |
T239I |
probably benign |
Het |
| Vmn1r230 |
A |
G |
17: 21,067,492 (GRCm39) |
H227R |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,096,283 (GRCm39) |
F1029I |
probably benign |
Het |
|
| Other mutations in Serpini2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Serpini2
|
APN |
3 |
75,156,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00736:Serpini2
|
APN |
3 |
75,175,116 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03398:Serpini2
|
APN |
3 |
75,166,852 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0271:Serpini2
|
UTSW |
3 |
75,153,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0545:Serpini2
|
UTSW |
3 |
75,165,445 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2435:Serpini2
|
UTSW |
3 |
75,165,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2886:Serpini2
|
UTSW |
3 |
75,166,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5054:Serpini2
|
UTSW |
3 |
75,166,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5151:Serpini2
|
UTSW |
3 |
75,153,820 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5554:Serpini2
|
UTSW |
3 |
75,175,295 (GRCm39) |
start gained |
probably benign |
|
|
R5614:Serpini2
|
UTSW |
3 |
75,165,014 (GRCm39) |
intron |
probably benign |
|
|
R6413:Serpini2
|
UTSW |
3 |
75,166,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6510:Serpini2
|
UTSW |
3 |
75,159,875 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6688:Serpini2
|
UTSW |
3 |
75,166,870 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7178:Serpini2
|
UTSW |
3 |
75,165,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8491:Serpini2
|
UTSW |
3 |
75,159,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9586:Serpini2
|
UTSW |
3 |
75,166,891 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTCTTTGCATCCAGAAAATCCAC -3'
(R):5'- AAAGTGGGGCTTTCCTTCAG -3'
Sequencing Primer
(F):5'- GAAAATCCACCAGTTTTGTAGCACTC -3'
(R):5'- GGCTTTCCTTCAGTGTTCATGAATTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation