Incidental Mutation 'R6514:Serpine2'
| ID |
520489 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
044641-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6514 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
79772038-79836382 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 79799287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027467]
[ENSMUST00000189793]
[ENSMUST00000190724]
|
| AlphaFold |
Q07235 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027467
|
| SMART Domains |
Protein: ENSMUSP00000027467
Gene: ENSMUSG00000026249
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
36 |
397 |
9.93e-152 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153862
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189793
|
| SMART Domains |
Protein: ENSMUSP00000140065
Gene: ENSMUSG00000026249
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
1 |
231 |
2.3e-39 |
SMART |
|
| Predicted Effect |
probably null
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191529
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
95% (35/37) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
G |
A |
11: 50,833,569 (GRCm39) |
A11V |
unknown |
Het |
| Add1 |
T |
A |
5: 34,763,317 (GRCm39) |
H168Q |
probably damaging |
Het |
| Apol7b |
C |
T |
15: 77,308,126 (GRCm39) |
R123Q |
probably benign |
Het |
| Arrdc3 |
A |
G |
13: 81,037,309 (GRCm39) |
E155G |
probably damaging |
Het |
| Capn7 |
T |
G |
14: 31,066,511 (GRCm39) |
D108E |
probably benign |
Het |
| Cdc6 |
A |
G |
11: 98,810,118 (GRCm39) |
T476A |
probably benign |
Het |
| Cntnap5c |
A |
G |
17: 58,637,165 (GRCm39) |
E1014G |
probably damaging |
Het |
| Crybg1 |
A |
T |
10: 43,873,211 (GRCm39) |
L1299H |
probably damaging |
Het |
| Duoxa1 |
A |
G |
2: 122,135,194 (GRCm39) |
S184P |
probably benign |
Het |
| Ech1 |
A |
G |
7: 28,525,440 (GRCm39) |
H65R |
possibly damaging |
Het |
| Egr3 |
T |
C |
14: 70,316,366 (GRCm39) |
L59P |
probably damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,190,996 (GRCm39) |
D724E |
probably null |
Het |
| Erbb2 |
A |
G |
11: 98,310,972 (GRCm39) |
D44G |
probably benign |
Het |
| Fer1l5 |
A |
G |
1: 36,442,697 (GRCm39) |
I739V |
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,380,879 (GRCm39) |
F665L |
probably benign |
Het |
| Gm10801 |
T |
A |
2: 98,494,214 (GRCm39) |
W119R |
probably benign |
Het |
| H2-M11 |
A |
T |
17: 36,859,839 (GRCm39) |
E277D |
probably damaging |
Het |
| Ighv1-66 |
T |
C |
12: 115,556,740 (GRCm39) |
Y114C |
possibly damaging |
Het |
| Irf1 |
C |
G |
11: 53,662,148 (GRCm39) |
L12V |
probably damaging |
Het |
| Itpr3 |
C |
T |
17: 27,310,344 (GRCm39) |
A403V |
probably benign |
Het |
| Ly6g |
C |
T |
15: 75,028,581 (GRCm39) |
P14S |
probably benign |
Het |
| Mfsd13a |
T |
C |
19: 46,363,064 (GRCm39) |
|
probably null |
Het |
| Mme |
T |
A |
3: 63,272,265 (GRCm39) |
C621* |
probably null |
Het |
| Mmp16 |
T |
C |
4: 18,116,123 (GRCm39) |
C576R |
probably damaging |
Het |
| Ngp |
A |
T |
9: 110,249,017 (GRCm39) |
I30F |
probably damaging |
Het |
| Or2q1 |
T |
A |
6: 42,794,930 (GRCm39) |
I175N |
probably damaging |
Het |
| Pdcd6ip |
G |
A |
9: 113,518,762 (GRCm39) |
T166I |
probably benign |
Het |
| Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
T |
A |
2: 135,796,916 (GRCm39) |
H440Q |
probably benign |
Het |
| Ppl |
A |
G |
16: 4,905,181 (GRCm39) |
S1705P |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,746,266 (GRCm39) |
F3831S |
probably damaging |
Het |
| Skor2 |
T |
A |
18: 76,950,389 (GRCm39) |
W906R |
probably damaging |
Het |
| Tle6 |
G |
A |
10: 81,427,810 (GRCm39) |
H482Y |
probably damaging |
Het |
| Ufl1 |
T |
A |
4: 25,262,238 (GRCm39) |
D336V |
probably damaging |
Het |
| Vav1 |
T |
C |
17: 57,634,660 (GRCm39) |
F832L |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCGTGACTTGATGATCTG -3'
(R):5'- AGAAGACCCTTGGAAGTAATGC -3'
Sequencing Primer
(F):5'- GATCTGATTGAAGACCTGGATCCC -3'
(R):5'- GCCTGATGTCTAGTTCATACTAAGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation