Incidental Mutation 'R8520:Serpinb2'
ID |
658572 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serpinb2
|
Ensembl Gene |
ENSMUSG00000062345 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 2 |
Synonyms |
ovalbumin, Planh2, PAI-2 |
MMRRC Submission |
067947-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8520 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
107439153-107453330 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 107450910 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 217
(N217K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065277
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009356]
[ENSMUST00000064916]
[ENSMUST00000146597]
|
AlphaFold |
P12388 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000009356
AA Change: N217K
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000009356 Gene: ENSMUSG00000062345 AA Change: N217K
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
415 |
1.07e-188 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000064916
AA Change: N217K
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000065277 Gene: ENSMUSG00000062345 AA Change: N217K
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
415 |
1.07e-188 |
SMART |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000114751 Gene: ENSMUSG00000062345 AA Change: N93K
Domain | Start | End | E-Value | Type |
SERPIN
|
1 |
189 |
2.36e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146597
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (51/51) |
MGI Phenotype |
PHENOTYPE: Homozygous inactivation of this gene leads to a slight to mild reduction in platelet, lymphocyte, neutrophil, and monocyte cell number. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
A |
T |
13: 59,838,423 (GRCm39) |
F136L |
possibly damaging |
Het |
A430033K04Rik |
T |
A |
5: 138,644,968 (GRCm39) |
N284K |
possibly damaging |
Het |
Abcb1a |
T |
C |
5: 8,735,346 (GRCm39) |
I151T |
possibly damaging |
Het |
Adam28 |
C |
T |
14: 68,879,532 (GRCm39) |
G172D |
probably damaging |
Het |
Adcy6 |
A |
G |
15: 98,502,041 (GRCm39) |
V191A |
probably benign |
Het |
Ankrd52 |
T |
C |
10: 128,225,359 (GRCm39) |
L911P |
probably damaging |
Het |
C5ar1 |
A |
G |
7: 15,982,076 (GRCm39) |
S315P |
probably damaging |
Het |
Cubn |
A |
G |
2: 13,313,331 (GRCm39) |
|
probably null |
Het |
Dlec1 |
T |
C |
9: 118,941,277 (GRCm39) |
S276P |
probably benign |
Het |
Dnah14 |
T |
A |
1: 181,481,203 (GRCm39) |
I1564N |
probably damaging |
Het |
Dsg2 |
G |
A |
18: 20,712,508 (GRCm39) |
G171R |
probably damaging |
Het |
Dusp13b |
C |
A |
14: 21,793,538 (GRCm39) |
G208* |
probably null |
Het |
Ebf3 |
A |
C |
7: 136,802,853 (GRCm39) |
|
probably null |
Het |
Fbn2 |
A |
T |
18: 58,171,270 (GRCm39) |
|
probably null |
Het |
Fbxo27 |
A |
G |
7: 28,392,767 (GRCm39) |
D16G |
probably benign |
Het |
G6pc3 |
A |
G |
11: 102,083,934 (GRCm39) |
S187G |
probably benign |
Het |
Gucy2d |
G |
A |
7: 98,121,513 (GRCm39) |
V995I |
probably null |
Het |
Hmcn2 |
C |
A |
2: 31,244,726 (GRCm39) |
P728T |
probably damaging |
Het |
Il1r2 |
T |
C |
1: 40,144,499 (GRCm39) |
L62P |
probably damaging |
Het |
Ints7 |
T |
C |
1: 191,314,603 (GRCm39) |
S63P |
probably damaging |
Het |
Lyset |
T |
A |
12: 102,710,431 (GRCm39) |
|
probably null |
Het |
Mcf2l |
C |
A |
8: 12,930,089 (GRCm39) |
D36E |
probably benign |
Het |
Mfsd13b |
T |
G |
7: 120,590,586 (GRCm39) |
I109S |
probably benign |
Het |
Mier2 |
G |
A |
10: 79,378,263 (GRCm39) |
H385Y |
possibly damaging |
Het |
Mydgf |
C |
A |
17: 56,490,734 (GRCm39) |
|
probably null |
Het |
Nanog |
A |
T |
6: 122,690,475 (GRCm39) |
L268F |
possibly damaging |
Het |
Or12j5 |
T |
A |
7: 140,084,315 (GRCm39) |
D19V |
probably benign |
Het |
Or14a259 |
A |
T |
7: 86,013,471 (GRCm39) |
C25S |
probably benign |
Het |
Otud4 |
T |
A |
8: 80,385,896 (GRCm39) |
N256K |
probably damaging |
Het |
P2rx1 |
A |
T |
11: 72,899,779 (GRCm39) |
D128V |
probably benign |
Het |
Pappa |
G |
A |
4: 65,254,001 (GRCm39) |
V1552I |
probably benign |
Het |
Pax8 |
A |
T |
2: 24,333,034 (GRCm39) |
F103I |
probably damaging |
Het |
Ptk2b |
T |
A |
14: 66,412,204 (GRCm39) |
S396C |
probably damaging |
Het |
Rnf148 |
A |
G |
6: 23,654,169 (GRCm39) |
Y276H |
probably damaging |
Het |
Sec11c |
A |
T |
18: 65,947,911 (GRCm39) |
I93L |
probably damaging |
Het |
Slc2a13 |
T |
A |
15: 91,457,105 (GRCm39) |
T66S |
probably damaging |
Het |
Slc4a3 |
T |
C |
1: 75,526,506 (GRCm39) |
M9T |
probably benign |
Het |
Sord |
G |
A |
2: 122,087,423 (GRCm39) |
V176I |
possibly damaging |
Het |
Thbs4 |
G |
A |
13: 92,890,792 (GRCm39) |
Q892* |
probably null |
Het |
Thsd7b |
T |
A |
1: 129,849,157 (GRCm39) |
D956E |
probably benign |
Het |
Topbp1 |
T |
A |
9: 103,186,176 (GRCm39) |
|
probably null |
Het |
Tst |
T |
C |
15: 78,289,453 (GRCm39) |
E194G |
probably damaging |
Het |
Ttk |
T |
A |
9: 83,739,380 (GRCm39) |
S484T |
possibly damaging |
Het |
U2surp |
A |
G |
9: 95,384,607 (GRCm39) |
S26P |
possibly damaging |
Het |
Ugt2b37 |
C |
T |
5: 87,388,714 (GRCm39) |
A500T |
probably benign |
Het |
Utrn |
A |
T |
10: 12,545,930 (GRCm39) |
Y1669* |
probably null |
Het |
Vmn2r23 |
A |
T |
6: 123,718,615 (GRCm39) |
Q656L |
probably damaging |
Het |
Wdr7 |
A |
G |
18: 64,120,231 (GRCm39) |
N1424S |
probably benign |
Het |
Xkr9 |
A |
G |
1: 13,771,603 (GRCm39) |
D373G |
probably benign |
Het |
Zfp984 |
T |
A |
4: 147,840,668 (GRCm39) |
Y61F |
probably benign |
Het |
|
Other mutations in Serpinb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00818:Serpinb2
|
APN |
1 |
107,452,466 (GRCm39) |
missense |
probably benign |
0.04 |
IGL00870:Serpinb2
|
APN |
1 |
107,450,800 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01535:Serpinb2
|
APN |
1 |
107,447,503 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01603:Serpinb2
|
APN |
1 |
107,449,910 (GRCm39) |
missense |
probably benign |
0.28 |
IGL01721:Serpinb2
|
APN |
1 |
107,443,333 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02536:Serpinb2
|
APN |
1 |
107,452,679 (GRCm39) |
unclassified |
probably benign |
|
IGL03167:Serpinb2
|
APN |
1 |
107,450,485 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03184:Serpinb2
|
APN |
1 |
107,452,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R1728:Serpinb2
|
UTSW |
1 |
107,451,564 (GRCm39) |
missense |
probably benign |
0.00 |
R1728:Serpinb2
|
UTSW |
1 |
107,451,620 (GRCm39) |
missense |
probably benign |
|
R1728:Serpinb2
|
UTSW |
1 |
107,443,365 (GRCm39) |
missense |
probably damaging |
0.97 |
R1728:Serpinb2
|
UTSW |
1 |
107,452,273 (GRCm39) |
missense |
probably benign |
0.00 |
R1728:Serpinb2
|
UTSW |
1 |
107,451,624 (GRCm39) |
missense |
probably benign |
0.00 |
R1729:Serpinb2
|
UTSW |
1 |
107,451,620 (GRCm39) |
missense |
probably benign |
|
R1729:Serpinb2
|
UTSW |
1 |
107,451,624 (GRCm39) |
missense |
probably benign |
0.00 |
R1729:Serpinb2
|
UTSW |
1 |
107,452,273 (GRCm39) |
missense |
probably benign |
0.00 |
R1729:Serpinb2
|
UTSW |
1 |
107,443,365 (GRCm39) |
missense |
probably damaging |
0.97 |
R1729:Serpinb2
|
UTSW |
1 |
107,451,564 (GRCm39) |
missense |
probably benign |
0.00 |
R1730:Serpinb2
|
UTSW |
1 |
107,451,620 (GRCm39) |
missense |
probably benign |
|
R1730:Serpinb2
|
UTSW |
1 |
107,451,624 (GRCm39) |
missense |
probably benign |
0.00 |
R1730:Serpinb2
|
UTSW |
1 |
107,452,273 (GRCm39) |
missense |
probably benign |
0.00 |
R1730:Serpinb2
|
UTSW |
1 |
107,443,365 (GRCm39) |
missense |
probably damaging |
0.97 |
R1730:Serpinb2
|
UTSW |
1 |
107,451,564 (GRCm39) |
missense |
probably benign |
0.00 |
R1739:Serpinb2
|
UTSW |
1 |
107,451,620 (GRCm39) |
missense |
probably benign |
|
R1739:Serpinb2
|
UTSW |
1 |
107,451,624 (GRCm39) |
missense |
probably benign |
0.00 |
R1739:Serpinb2
|
UTSW |
1 |
107,452,273 (GRCm39) |
missense |
probably benign |
0.00 |
R1739:Serpinb2
|
UTSW |
1 |
107,443,365 (GRCm39) |
missense |
probably damaging |
0.97 |
R1739:Serpinb2
|
UTSW |
1 |
107,451,564 (GRCm39) |
missense |
probably benign |
0.00 |
R1762:Serpinb2
|
UTSW |
1 |
107,451,620 (GRCm39) |
missense |
probably benign |
|
R1762:Serpinb2
|
UTSW |
1 |
107,451,624 (GRCm39) |
missense |
probably benign |
0.00 |
R1762:Serpinb2
|
UTSW |
1 |
107,452,273 (GRCm39) |
missense |
probably benign |
0.00 |
R1762:Serpinb2
|
UTSW |
1 |
107,443,365 (GRCm39) |
missense |
probably damaging |
0.97 |
R1762:Serpinb2
|
UTSW |
1 |
107,451,564 (GRCm39) |
missense |
probably benign |
0.00 |
R1783:Serpinb2
|
UTSW |
1 |
107,451,624 (GRCm39) |
missense |
probably benign |
0.00 |
R1783:Serpinb2
|
UTSW |
1 |
107,452,273 (GRCm39) |
missense |
probably benign |
0.00 |
R1783:Serpinb2
|
UTSW |
1 |
107,443,365 (GRCm39) |
missense |
probably damaging |
0.97 |
R1783:Serpinb2
|
UTSW |
1 |
107,451,564 (GRCm39) |
missense |
probably benign |
0.00 |
R1783:Serpinb2
|
UTSW |
1 |
107,451,620 (GRCm39) |
missense |
probably benign |
|
R1785:Serpinb2
|
UTSW |
1 |
107,451,620 (GRCm39) |
missense |
probably benign |
|
R1785:Serpinb2
|
UTSW |
1 |
107,451,564 (GRCm39) |
missense |
probably benign |
0.00 |
R1785:Serpinb2
|
UTSW |
1 |
107,443,365 (GRCm39) |
missense |
probably damaging |
0.97 |
R1785:Serpinb2
|
UTSW |
1 |
107,452,273 (GRCm39) |
missense |
probably benign |
0.00 |
R1785:Serpinb2
|
UTSW |
1 |
107,451,624 (GRCm39) |
missense |
probably benign |
0.00 |
R1889:Serpinb2
|
UTSW |
1 |
107,452,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R1895:Serpinb2
|
UTSW |
1 |
107,452,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R2056:Serpinb2
|
UTSW |
1 |
107,451,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R2061:Serpinb2
|
UTSW |
1 |
107,450,525 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2186:Serpinb2
|
UTSW |
1 |
107,451,694 (GRCm39) |
splice site |
probably null |
|
R4925:Serpinb2
|
UTSW |
1 |
107,443,219 (GRCm39) |
missense |
probably benign |
0.37 |
R5150:Serpinb2
|
UTSW |
1 |
107,450,939 (GRCm39) |
critical splice donor site |
probably null |
|
R5421:Serpinb2
|
UTSW |
1 |
107,451,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R5899:Serpinb2
|
UTSW |
1 |
107,447,446 (GRCm39) |
missense |
probably damaging |
0.96 |
R6234:Serpinb2
|
UTSW |
1 |
107,452,501 (GRCm39) |
missense |
probably damaging |
1.00 |
R6243:Serpinb2
|
UTSW |
1 |
107,450,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R7088:Serpinb2
|
UTSW |
1 |
107,452,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R7192:Serpinb2
|
UTSW |
1 |
107,452,306 (GRCm39) |
missense |
probably damaging |
0.96 |
R8829:Serpinb2
|
UTSW |
1 |
107,443,257 (GRCm39) |
missense |
probably benign |
0.09 |
R8924:Serpinb2
|
UTSW |
1 |
107,443,284 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8969:Serpinb2
|
UTSW |
1 |
107,452,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R8990:Serpinb2
|
UTSW |
1 |
107,450,428 (GRCm39) |
missense |
probably damaging |
0.96 |
R9151:Serpinb2
|
UTSW |
1 |
107,449,890 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9622:Serpinb2
|
UTSW |
1 |
107,452,298 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCAAGTCAATGTTCCTTCACC -3'
(R):5'- ACTCCGTAGCATGAAAGAGTCAATG -3'
Sequencing Primer
(F):5'- TCCTTCACCTTCTTACTGAGAAAAAC -3'
(R):5'- GTCAATGCCAAACATTCATAAGCTG -3'
|
Posted On |
2021-01-18 |