Incidental Mutation 'IGL02743:Serpine2'
| ID |
305983 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpine2
|
| Ensembl Gene |
ENSMUSG00000026249 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade E, member 2 |
| Synonyms |
protease nexin 1, Spi4, PN-1, PI7, B230326M24Rik, nexin |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02743
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
79772038-79836382 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79779272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 149
(F149I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027467]
[ENSMUST00000189793]
[ENSMUST00000190724]
|
| AlphaFold |
Q07235 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027467
AA Change: F296I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027467
Gene: ENSMUSG00000026249
AA Change: F296I
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
36 |
397 |
9.93e-152 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189793
AA Change: F149I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140065
Gene: ENSMUSG00000026249
AA Change: F149I
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
1 |
231 |
2.3e-39 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190724
|
| SMART Domains |
Protein: ENSMUSP00000140255
Gene: ENSMUSG00000026249
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SERPIN
|
36 |
232 |
7.1e-12 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. Thrombin, urokinase, plasmin and trypsin are among the proteases that this family member can inhibit. This gene is a susceptibility gene for chronic obstructive pulmonary disease and for emphysema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a targeted mutation of this gene are viable and healthy but develop epileptic activity as well as reduced theta burst-induced LTP and NMDA receptor-mediated synaptic transmission in the CA1 field of the hippocampus; notably, homozygous mutant males are infertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambn |
A |
C |
5: 88,612,343 (GRCm39) |
D188A |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,270,054 (GRCm39) |
E365G |
probably benign |
Het |
| Arhgef10 |
C |
T |
8: 14,980,198 (GRCm39) |
A146V |
probably benign |
Het |
| AW554918 |
C |
T |
18: 25,423,001 (GRCm39) |
Q151* |
probably null |
Het |
| Chd6 |
T |
C |
2: 160,802,183 (GRCm39) |
D2217G |
probably damaging |
Het |
| Cntn5 |
T |
A |
9: 9,984,115 (GRCm39) |
E166V |
probably damaging |
Het |
| Cyp4f15 |
T |
C |
17: 32,918,926 (GRCm39) |
S319P |
possibly damaging |
Het |
| Dna2 |
G |
A |
10: 62,792,821 (GRCm39) |
V279I |
possibly damaging |
Het |
| Edrf1 |
A |
G |
7: 133,258,220 (GRCm39) |
|
probably benign |
Het |
| Fmo3 |
A |
T |
1: 162,786,052 (GRCm39) |
F313I |
probably damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,197,221 (GRCm39) |
D245G |
possibly damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,818,661 (GRCm39) |
|
probably null |
Het |
| Mfn1 |
A |
T |
3: 32,628,439 (GRCm39) |
H690L |
probably benign |
Het |
| Msh2 |
T |
C |
17: 88,014,643 (GRCm39) |
F474L |
probably damaging |
Het |
| Nlrp4a |
T |
G |
7: 26,159,240 (GRCm39) |
|
probably benign |
Het |
| Or2t44 |
T |
A |
11: 58,677,606 (GRCm39) |
L182* |
probably null |
Het |
| Or4d10b |
A |
G |
19: 12,036,811 (GRCm39) |
F102L |
probably damaging |
Het |
| Or4k45 |
T |
A |
2: 111,394,888 (GRCm39) |
R300S |
possibly damaging |
Het |
| Or51f5 |
T |
A |
7: 102,424,505 (GRCm39) |
I258N |
probably damaging |
Het |
| Or52n2c |
T |
C |
7: 104,574,075 (GRCm39) |
T299A |
probably damaging |
Het |
| Or8g35 |
G |
A |
9: 39,381,542 (GRCm39) |
T160I |
probably benign |
Het |
| Plcxd3 |
G |
A |
15: 4,604,285 (GRCm39) |
V298I |
possibly damaging |
Het |
| Prrc2b |
C |
T |
2: 32,084,441 (GRCm39) |
S302F |
probably damaging |
Het |
| Slc24a5 |
T |
C |
2: 124,930,154 (GRCm39) |
L485P |
probably damaging |
Het |
| Spg11 |
T |
A |
2: 121,889,988 (GRCm39) |
H2118L |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stxbp1 |
T |
C |
2: 32,709,913 (GRCm39) |
D60G |
probably damaging |
Het |
| Themis2 |
T |
A |
4: 132,510,795 (GRCm39) |
E582D |
probably benign |
Het |
| Tmem131 |
T |
G |
1: 36,832,232 (GRCm39) |
I1802L |
probably benign |
Het |
| Tnrc6a |
A |
G |
7: 122,770,696 (GRCm39) |
K829E |
probably damaging |
Het |
| Usp8 |
T |
C |
2: 126,575,943 (GRCm39) |
M213T |
probably damaging |
Het |
| Wnk2 |
A |
G |
13: 49,248,920 (GRCm39) |
V377A |
probably damaging |
Het |
| Wwox |
T |
G |
8: 116,078,443 (GRCm39) |
Y375D |
probably damaging |
Het |
|
| Other mutations in Serpine2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01319:Serpine2
|
APN |
1 |
79,788,411 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01386:Serpine2
|
APN |
1 |
79,779,268 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02069:Serpine2
|
APN |
1 |
79,799,129 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02516:Serpine2
|
APN |
1 |
79,772,714 (GRCm39) |
unclassified |
probably benign |
|
|
R0372:Serpine2
|
UTSW |
1 |
79,799,147 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1519:Serpine2
|
UTSW |
1 |
79,772,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1768:Serpine2
|
UTSW |
1 |
79,794,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1993:Serpine2
|
UTSW |
1 |
79,799,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1995:Serpine2
|
UTSW |
1 |
79,799,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2034:Serpine2
|
UTSW |
1 |
79,774,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2094:Serpine2
|
UTSW |
1 |
79,788,411 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2311:Serpine2
|
UTSW |
1 |
79,788,265 (GRCm39) |
splice site |
probably benign |
|
|
R2312:Serpine2
|
UTSW |
1 |
79,780,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2519:Serpine2
|
UTSW |
1 |
79,777,256 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4844:Serpine2
|
UTSW |
1 |
79,777,241 (GRCm39) |
nonsense |
probably null |
|
|
R5141:Serpine2
|
UTSW |
1 |
79,780,580 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5386:Serpine2
|
UTSW |
1 |
79,799,004 (GRCm39) |
nonsense |
probably null |
|
|
R5422:Serpine2
|
UTSW |
1 |
79,799,206 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5422:Serpine2
|
UTSW |
1 |
79,794,592 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5786:Serpine2
|
UTSW |
1 |
79,794,637 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5794:Serpine2
|
UTSW |
1 |
79,799,156 (GRCm39) |
missense |
probably benign |
|
|
R6109:Serpine2
|
UTSW |
1 |
79,788,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6514:Serpine2
|
UTSW |
1 |
79,799,287 (GRCm39) |
splice site |
probably null |
|
|
R6544:Serpine2
|
UTSW |
1 |
79,780,847 (GRCm39) |
splice site |
probably null |
|
|
R7001:Serpine2
|
UTSW |
1 |
79,772,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7395:Serpine2
|
UTSW |
1 |
79,779,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7660:Serpine2
|
UTSW |
1 |
79,780,622 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7844:Serpine2
|
UTSW |
1 |
79,794,516 (GRCm39) |
missense |
probably benign |
|
|
R8873:Serpine2
|
UTSW |
1 |
79,799,267 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation