Incidental Mutation 'R6544:Serpine2'
ID |
520978 |
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 |
044670-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6544 (G1)
|
Quality Score |
180.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
79772038-79836382 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 79780847 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 |
probably null
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
100% (48/48) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005K14Rik |
T |
A |
1: 83,036,678 (GRCm39) |
K118* |
probably null |
Het |
Actr2 |
A |
G |
11: 20,050,933 (GRCm39) |
F17L |
probably damaging |
Het |
Adam26b |
T |
C |
8: 43,974,818 (GRCm39) |
I61M |
probably damaging |
Het |
Ahcyl |
A |
C |
16: 45,975,147 (GRCm39) |
S77A |
probably benign |
Het |
Ahnak2 |
A |
G |
12: 112,746,829 (GRCm39) |
|
probably benign |
Het |
Angptl3 |
T |
C |
4: 98,919,675 (GRCm39) |
L145P |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,726,871 (GRCm39) |
T808A |
probably damaging |
Het |
Ark2c |
T |
A |
18: 77,650,931 (GRCm39) |
|
probably benign |
Het |
Cadm3 |
A |
G |
1: 173,194,977 (GRCm39) |
|
probably null |
Het |
Cog7 |
C |
T |
7: 121,534,966 (GRCm39) |
R573Q |
probably damaging |
Het |
Dchs1 |
T |
A |
7: 105,407,385 (GRCm39) |
I2110F |
probably damaging |
Het |
Fbxo47 |
G |
A |
11: 97,747,089 (GRCm39) |
R326C |
probably damaging |
Het |
Frmpd1 |
A |
T |
4: 45,279,024 (GRCm39) |
D583V |
probably damaging |
Het |
Gigyf1 |
T |
A |
5: 137,523,321 (GRCm39) |
L911Q |
probably damaging |
Het |
Gprin1 |
G |
A |
13: 54,888,124 (GRCm39) |
A50V |
possibly damaging |
Het |
Grik4 |
A |
T |
9: 42,459,024 (GRCm39) |
Y571* |
probably null |
Het |
Gucy2e |
A |
G |
11: 69,126,483 (GRCm39) |
V299A |
probably benign |
Het |
Hectd2 |
C |
T |
19: 36,589,728 (GRCm39) |
L618F |
probably damaging |
Het |
Lactbl1 |
A |
T |
4: 136,360,300 (GRCm39) |
I160F |
possibly damaging |
Het |
Lats1 |
T |
A |
10: 7,577,434 (GRCm39) |
V186D |
possibly damaging |
Het |
Lmtk2 |
A |
G |
5: 144,110,624 (GRCm39) |
H448R |
possibly damaging |
Het |
Map10 |
T |
C |
8: 126,398,113 (GRCm39) |
I502T |
probably benign |
Het |
Mok |
A |
G |
12: 110,777,189 (GRCm39) |
F239S |
probably damaging |
Het |
Mprip |
G |
A |
11: 59,648,552 (GRCm39) |
G752D |
probably benign |
Het |
Naip5 |
C |
A |
13: 100,359,652 (GRCm39) |
G528V |
possibly damaging |
Het |
Neu2 |
T |
C |
1: 87,524,464 (GRCm39) |
W150R |
probably damaging |
Het |
Or1ak2 |
T |
A |
2: 36,827,539 (GRCm39) |
M136K |
possibly damaging |
Het |
Or5an1 |
T |
C |
19: 12,260,519 (GRCm39) |
Y36H |
probably damaging |
Het |
Or5as1 |
T |
A |
2: 86,980,207 (GRCm39) |
Y266F |
probably damaging |
Het |
Or5l13 |
T |
A |
2: 87,780,335 (GRCm39) |
M81L |
probably benign |
Het |
Pip5k1c |
T |
A |
10: 81,144,830 (GRCm39) |
Y224N |
probably damaging |
Het |
Plch1 |
T |
C |
3: 63,758,399 (GRCm39) |
E5G |
probably damaging |
Het |
Pspc1 |
T |
C |
14: 57,001,660 (GRCm39) |
*59W |
probably null |
Het |
Ptprq |
T |
C |
10: 107,444,102 (GRCm39) |
T1501A |
probably damaging |
Het |
Rorb |
G |
T |
19: 18,929,614 (GRCm39) |
P304T |
possibly damaging |
Het |
Scn7a |
A |
T |
2: 66,514,444 (GRCm39) |
L1110Q |
probably damaging |
Het |
Slco1c1 |
A |
G |
6: 141,477,170 (GRCm39) |
|
probably null |
Het |
Smarca2 |
T |
A |
19: 26,608,331 (GRCm39) |
V130D |
probably damaging |
Het |
Sox17 |
G |
T |
1: 4,562,655 (GRCm39) |
P117T |
possibly damaging |
Het |
Sparcl1 |
A |
T |
5: 104,240,310 (GRCm39) |
Y371* |
probably null |
Het |
Tdpoz2 |
T |
C |
3: 93,559,267 (GRCm39) |
D235G |
possibly damaging |
Het |
Tns2 |
A |
C |
15: 102,022,269 (GRCm39) |
K1182N |
possibly damaging |
Het |
Tpte |
G |
T |
8: 22,805,121 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,799,503 (GRCm39) |
I459K |
possibly damaging |
Het |
Wdr97 |
T |
C |
15: 76,242,478 (GRCm39) |
Y823H |
probably benign |
Het |
Zc3h15 |
G |
A |
2: 83,491,492 (GRCm39) |
R240H |
probably benign |
Het |
Zfp455 |
C |
A |
13: 67,355,121 (GRCm39) |
L130I |
probably benign |
Het |
Zfp777 |
A |
T |
6: 48,021,419 (GRCm39) |
S68T |
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 |
R6514:Serpine2
|
UTSW |
1 |
79,799,287 (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'- AGCTGCATCCTCTTGGGTAC -3'
(R):5'- TTCAACTCAGCAGAATGAAAGTGAG -3'
Sequencing Primer
(F):5'- CATGGTGTTCATCCAGCTATCAATGG -3'
(R):5'- AAGTGAGCTTAGCGGTGCC -3'
|
Posted On |
2018-06-06 |