Incidental Mutation 'R6243:Serpinb2'
ID |
505347 |
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 |
044365-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6243 (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 C
at 107450869 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 204
(F204L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065277
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009356]
[ENSMUST00000064916]
[ENSMUST00000146597]
|
AlphaFold |
P12388 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000009356
AA Change: F204L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000009356 Gene: ENSMUSG00000062345 AA Change: F204L
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
415 |
1.07e-188 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064916
AA Change: F204L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000065277 Gene: ENSMUSG00000062345 AA Change: F204L
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
415 |
1.07e-188 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000143832
AA Change: F80L
|
SMART Domains |
Protein: ENSMUSP00000114751 Gene: ENSMUSG00000062345 AA Change: F80L
Domain | Start | End | E-Value | Type |
SERPIN
|
1 |
189 |
2.36e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146597
|
Meta Mutation Damage Score |
0.9154 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
Validation Efficiency |
99% (73/74) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts6 |
T |
C |
13: 104,450,809 (GRCm39) |
S331P |
probably damaging |
Het |
Akap9 |
T |
G |
5: 4,115,000 (GRCm39) |
|
probably null |
Het |
Ankef1 |
A |
G |
2: 136,379,077 (GRCm39) |
E9G |
probably damaging |
Het |
Ap1g2 |
T |
C |
14: 55,336,530 (GRCm39) |
E788G |
probably benign |
Het |
Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
Asrgl1 |
A |
T |
19: 9,093,868 (GRCm39) |
I220K |
probably damaging |
Het |
Atg16l2 |
A |
C |
7: 100,941,536 (GRCm39) |
*404E |
probably null |
Het |
Atp4a |
T |
C |
7: 30,415,382 (GRCm39) |
F334S |
possibly damaging |
Het |
Atp6v0d1 |
T |
C |
8: 106,292,495 (GRCm39) |
E17G |
probably benign |
Het |
Bcat2 |
T |
C |
7: 45,237,691 (GRCm39) |
V279A |
probably benign |
Het |
Birc6 |
T |
G |
17: 74,916,382 (GRCm39) |
M459R |
probably damaging |
Het |
Bsn |
T |
C |
9: 107,984,760 (GRCm39) |
Y3098C |
unknown |
Het |
Btaf1 |
T |
A |
19: 36,958,520 (GRCm39) |
M679K |
probably benign |
Het |
Cirop |
T |
A |
14: 54,933,216 (GRCm39) |
R322S |
probably damaging |
Het |
Col6a4 |
T |
C |
9: 105,890,589 (GRCm39) |
T1902A |
possibly damaging |
Het |
Crhr1 |
G |
A |
11: 104,064,740 (GRCm39) |
C364Y |
probably damaging |
Het |
Crmp1 |
T |
C |
5: 37,446,288 (GRCm39) |
L648P |
probably damaging |
Het |
Cyfip1 |
T |
C |
7: 55,550,277 (GRCm39) |
Y671H |
probably damaging |
Het |
Cyp2b13 |
C |
T |
7: 25,761,044 (GRCm39) |
P34S |
probably damaging |
Het |
Dnajb6 |
T |
A |
5: 29,986,131 (GRCm39) |
V233E |
probably benign |
Het |
Dnhd1 |
A |
T |
7: 105,301,216 (GRCm39) |
H191L |
probably damaging |
Het |
Dsg3 |
T |
A |
18: 20,672,781 (GRCm39) |
D817E |
probably damaging |
Het |
Dytn |
T |
C |
1: 63,686,680 (GRCm39) |
Q330R |
possibly damaging |
Het |
Fads1 |
G |
T |
19: 10,163,091 (GRCm39) |
E123* |
probably null |
Het |
Fchsd2 |
T |
C |
7: 100,921,016 (GRCm39) |
|
probably benign |
Het |
Fmo9 |
T |
C |
1: 166,494,938 (GRCm39) |
E270G |
probably benign |
Het |
Folr1 |
T |
A |
7: 101,513,172 (GRCm39) |
H41L |
probably damaging |
Het |
Gm7298 |
A |
G |
6: 121,756,096 (GRCm39) |
N985S |
possibly damaging |
Het |
Gp1ba |
T |
C |
11: 70,530,963 (GRCm39) |
|
probably benign |
Het |
Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
Igf2bp3 |
A |
T |
6: 49,084,362 (GRCm39) |
N285K |
possibly damaging |
Het |
Lca5l |
G |
A |
16: 95,980,112 (GRCm39) |
T6I |
possibly damaging |
Het |
Mapk8ip1 |
C |
A |
2: 92,219,589 (GRCm39) |
G81C |
probably damaging |
Het |
Mpeg1 |
A |
G |
19: 12,439,604 (GRCm39) |
H354R |
probably benign |
Het |
Msh6 |
T |
A |
17: 88,290,999 (GRCm39) |
V195E |
possibly damaging |
Het |
Mtfmt |
C |
T |
9: 65,351,182 (GRCm39) |
T243I |
probably benign |
Het |
Myo1h |
T |
A |
5: 114,500,208 (GRCm39) |
I195K |
probably damaging |
Het |
Nr1h5 |
T |
C |
3: 102,856,380 (GRCm39) |
K300E |
probably benign |
Het |
Nuak2 |
T |
C |
1: 132,260,105 (GRCm39) |
S628P |
probably benign |
Het |
Nup214 |
G |
T |
2: 31,892,944 (GRCm39) |
A721S |
possibly damaging |
Het |
Or12e13 |
A |
G |
2: 87,663,385 (GRCm39) |
M1V |
probably null |
Het |
Or5d47 |
A |
G |
2: 87,804,931 (GRCm39) |
V26A |
probably benign |
Het |
Pclo |
T |
C |
5: 14,726,457 (GRCm39) |
|
probably benign |
Het |
Phf20 |
A |
G |
2: 156,065,320 (GRCm39) |
S12G |
probably benign |
Het |
Pik3r5 |
T |
C |
11: 68,382,826 (GRCm39) |
Y289H |
probably damaging |
Het |
Pld1 |
T |
C |
3: 28,149,954 (GRCm39) |
I717T |
probably damaging |
Het |
Plxdc1 |
A |
G |
11: 97,846,299 (GRCm39) |
Y182H |
probably damaging |
Het |
Ppid |
A |
G |
3: 79,510,373 (GRCm39) |
I354V |
probably benign |
Het |
Prss2 |
T |
C |
6: 41,501,387 (GRCm39) |
V152A |
probably benign |
Het |
Rab28 |
C |
T |
5: 41,793,223 (GRCm39) |
A141T |
probably benign |
Het |
Rabgap1l |
C |
T |
1: 160,472,877 (GRCm39) |
|
probably null |
Het |
Rabl6 |
T |
G |
2: 25,475,415 (GRCm39) |
S553R |
probably damaging |
Het |
Rars1 |
A |
G |
11: 35,717,374 (GRCm39) |
F170S |
possibly damaging |
Het |
Ror2 |
T |
A |
13: 53,267,116 (GRCm39) |
M440L |
probably benign |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
Rsph4a |
A |
T |
10: 33,785,139 (GRCm39) |
Q350L |
probably damaging |
Het |
Sertad4 |
T |
C |
1: 192,533,257 (GRCm39) |
|
probably null |
Het |
Shisa3 |
C |
T |
5: 67,768,486 (GRCm39) |
P129S |
probably benign |
Het |
Slc13a2 |
G |
A |
11: 78,295,534 (GRCm39) |
L111F |
probably damaging |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Stab2 |
T |
A |
10: 86,743,025 (GRCm39) |
R1195W |
probably damaging |
Het |
Syna |
C |
A |
5: 134,588,968 (GRCm39) |
|
probably benign |
Het |
Thada |
A |
T |
17: 84,744,030 (GRCm39) |
D759E |
probably benign |
Het |
Thoc5 |
A |
G |
11: 4,869,753 (GRCm39) |
Y385C |
possibly damaging |
Het |
Thsd7a |
C |
T |
6: 12,327,601 (GRCm39) |
D1424N |
probably damaging |
Het |
Thsd7b |
A |
T |
1: 130,090,599 (GRCm39) |
Q1204L |
probably benign |
Het |
Tnfrsf8 |
T |
C |
4: 145,029,671 (GRCm39) |
N43S |
possibly damaging |
Het |
Trim66 |
T |
C |
7: 109,059,481 (GRCm39) |
K921R |
probably benign |
Het |
Uaca |
G |
A |
9: 60,777,326 (GRCm39) |
R571Q |
probably damaging |
Het |
Ugt2a2 |
T |
G |
5: 87,610,818 (GRCm39) |
K339N |
probably benign |
Het |
Vmn2r8 |
T |
C |
5: 108,947,211 (GRCm39) |
T514A |
probably benign |
Het |
Wrn |
A |
T |
8: 33,774,682 (GRCm39) |
M652K |
possibly damaging |
Het |
Yme1l1 |
A |
T |
2: 23,083,184 (GRCm39) |
Y550F |
probably benign |
Het |
Zfp995 |
G |
A |
17: 22,099,269 (GRCm39) |
P322S |
probably damaging |
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 |
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 |
R8520:Serpinb2
|
UTSW |
1 |
107,450,910 (GRCm39) |
missense |
probably benign |
0.01 |
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'- GAGTCAATGCCAAACATTCATAAGCTG -3'
Sequencing Primer
(F):5'- TCCTTCACCTTCTTACTGAGAAAAAC -3'
(R):5'- GCCAAACATTCATAAGCTGTAACTAG -3'
|
Posted On |
2018-02-28 |