Incidental Mutation 'IGL01319:Serpine2'
| ID |
73970 |
| 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 # |
IGL01319
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
79772038-79836382 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79788411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 182
(V182A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027467]
[ENSMUST00000189793]
[ENSMUST00000190724]
|
| AlphaFold |
Q07235 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027467
AA Change: V182A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027467
Gene: ENSMUSG00000026249
AA Change: V182A
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
36 |
397 |
9.93e-152 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153862
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189793
AA Change: V35A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140065
Gene: ENSMUSG00000026249
AA Change: V35A
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
1 |
231 |
2.3e-39 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190724
AA Change: V182A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140255
Gene: ENSMUSG00000026249
AA Change: V182A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SERPIN
|
36 |
232 |
7.1e-12 |
SMART |
|
| Meta Mutation Damage Score |
0.8045 |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
T |
A |
3: 40,888,077 (GRCm39) |
V307E |
probably benign |
Het |
| Bub1b |
T |
C |
2: 118,445,475 (GRCm39) |
I265T |
possibly damaging |
Het |
| Cemip2 |
C |
T |
19: 21,822,121 (GRCm39) |
P1172L |
possibly damaging |
Het |
| Cntnap3 |
G |
A |
13: 64,935,651 (GRCm39) |
T404I |
probably damaging |
Het |
| Disc1 |
T |
C |
8: 125,814,630 (GRCm39) |
S165P |
probably damaging |
Het |
| Dock1 |
T |
C |
7: 134,391,007 (GRCm39) |
F756L |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,589,617 (GRCm39) |
V480A |
possibly damaging |
Het |
| Drc3 |
A |
G |
11: 60,255,788 (GRCm39) |
D125G |
probably null |
Het |
| Emid1 |
C |
T |
11: 5,093,859 (GRCm39) |
C96Y |
probably damaging |
Het |
| F13b |
A |
G |
1: 139,434,531 (GRCm39) |
N99S |
probably damaging |
Het |
| Fam20a |
A |
G |
11: 109,569,284 (GRCm39) |
|
probably benign |
Het |
| Fancd2 |
C |
A |
6: 113,561,860 (GRCm39) |
T1243K |
probably damaging |
Het |
| Fbxw14 |
T |
C |
9: 109,107,859 (GRCm39) |
K172E |
probably damaging |
Het |
| Gm13941 |
T |
C |
2: 110,925,150 (GRCm39) |
|
probably null |
Het |
| Gtpbp4 |
A |
T |
13: 9,035,296 (GRCm39) |
N354K |
probably benign |
Het |
| Igkv2-116 |
T |
C |
6: 68,129,388 (GRCm39) |
L50P |
probably benign |
Het |
| Klrb1-ps1 |
C |
T |
6: 129,093,548 (GRCm39) |
P23L |
possibly damaging |
Het |
| Kng2 |
T |
A |
16: 22,847,584 (GRCm39) |
I26F |
probably damaging |
Het |
| Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
| Lrpprc |
T |
C |
17: 85,012,840 (GRCm39) |
|
probably benign |
Het |
| Man2a2 |
C |
T |
7: 80,010,880 (GRCm39) |
V704M |
possibly damaging |
Het |
| Mbip |
A |
G |
12: 56,377,027 (GRCm39) |
V303A |
probably benign |
Het |
| Mipep |
A |
T |
14: 61,080,720 (GRCm39) |
M571L |
probably benign |
Het |
| Ncan |
A |
T |
8: 70,550,212 (GRCm39) |
V1188D |
probably damaging |
Het |
| Pcdhb4 |
T |
C |
18: 37,441,566 (GRCm39) |
V292A |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,806,893 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2c |
T |
A |
5: 37,104,465 (GRCm39) |
S282T |
possibly damaging |
Het |
| Rad54l2 |
C |
T |
9: 106,596,245 (GRCm39) |
G231D |
probably benign |
Het |
| Rnf20 |
T |
G |
4: 49,649,326 (GRCm39) |
D443E |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,781,996 (GRCm39) |
M1108V |
probably benign |
Het |
| Sesn2 |
C |
T |
4: 132,227,278 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
C |
A |
7: 44,002,547 (GRCm39) |
A1422E |
possibly damaging |
Het |
| Skic3 |
A |
G |
13: 76,277,498 (GRCm39) |
H491R |
probably benign |
Het |
| Slc13a4 |
C |
T |
6: 35,284,288 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
T |
C |
2: 127,072,047 (GRCm39) |
|
probably benign |
Het |
| Src |
G |
A |
2: 157,311,423 (GRCm39) |
G461R |
probably damaging |
Het |
| Tbxas1 |
A |
G |
6: 38,994,907 (GRCm39) |
I178V |
probably benign |
Het |
| Triml1 |
A |
G |
8: 43,594,434 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
A |
T |
6: 115,553,945 (GRCm39) |
Q441L |
probably damaging |
Het |
| Ttc23l |
A |
G |
15: 10,509,492 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,711,648 (GRCm39) |
|
probably benign |
Het |
| Vsig10l |
C |
T |
7: 43,114,678 (GRCm39) |
S293L |
probably damaging |
Het |
| Zcchc13 |
C |
A |
X: 102,674,606 (GRCm39) |
Q110K |
possibly damaging |
Het |
|
| Other mutations in Serpine2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
IGL02743:Serpine2
|
APN |
1 |
79,779,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-10-07 |
Incidental Mutation