Incidental Mutation 'R8969:Serpinb2'
| ID |
682903 |
| 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 |
068803-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8969 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
107439153-107453330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107452390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 323
(I323F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009356]
[ENSMUST00000064916]
[ENSMUST00000146597]
[ENSMUST00000182198]
|
| AlphaFold |
P12388 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009356
AA Change: I323F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000009356
Gene: ENSMUSG00000062345
AA Change: I323F
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
415 |
1.07e-188 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064916
AA Change: I323F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065277
Gene: ENSMUSG00000062345
AA Change: I323F
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
415 |
1.07e-188 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143832
|
| SMART Domains |
Protein: ENSMUSP00000114751
Gene: ENSMUSG00000062345
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
1 |
189 |
2.36e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146597
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182198
|
| SMART Domains |
Protein: ENSMUSP00000138771
Gene: ENSMUSG00000092572
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
1 |
320 |
6.18e-139 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (77/77) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,227,944 (GRCm39) |
N662K |
probably benign |
Het |
| Acp7 |
G |
A |
7: 28,307,382 (GRCm39) |
R492W |
probably damaging |
Het |
| Adam33 |
C |
T |
2: 130,894,994 (GRCm39) |
G688D |
probably damaging |
Het |
| Ak3 |
T |
G |
19: 29,025,094 (GRCm39) |
M46L |
probably benign |
Het |
| Aldh1l1 |
A |
G |
6: 90,547,790 (GRCm39) |
T417A |
probably benign |
Het |
| Ambp |
C |
T |
4: 63,072,328 (GRCm39) |
|
probably benign |
Het |
| Arhgef11 |
T |
C |
3: 87,632,949 (GRCm39) |
S687P |
probably damaging |
Het |
| Ash1l |
T |
C |
3: 88,873,598 (GRCm39) |
M127T |
possibly damaging |
Het |
| Atg9b |
C |
T |
5: 24,592,832 (GRCm39) |
A524T |
probably benign |
Het |
| Btbd10 |
A |
T |
7: 112,925,162 (GRCm39) |
S277T |
probably damaging |
Het |
| Ccdc167 |
T |
C |
17: 29,924,553 (GRCm39) |
D16G |
probably damaging |
Het |
| Cdh12 |
A |
G |
15: 21,492,739 (GRCm39) |
T253A |
probably damaging |
Het |
| Cfap206 |
A |
T |
4: 34,692,522 (GRCm39) |
D501E |
probably benign |
Het |
| Chrnb2 |
A |
G |
3: 89,664,532 (GRCm39) |
F461L |
probably damaging |
Het |
| Clic1 |
T |
C |
17: 35,274,386 (GRCm39) |
|
probably null |
Het |
| Cmah |
A |
G |
13: 24,606,636 (GRCm39) |
Y89C |
probably damaging |
Het |
| Crkl |
A |
G |
16: 17,286,918 (GRCm39) |
E158G |
probably damaging |
Het |
| Cyp3a59 |
A |
T |
5: 146,049,630 (GRCm39) |
E486V |
probably benign |
Het |
| D16Ertd472e |
T |
G |
16: 78,344,682 (GRCm39) |
Y142S |
probably damaging |
Het |
| Decr2 |
T |
A |
17: 26,306,355 (GRCm39) |
M94L |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,325,640 (GRCm39) |
S668C |
unknown |
Het |
| Dync2h1 |
T |
C |
9: 7,130,723 (GRCm39) |
R1708G |
probably damaging |
Het |
| Eno3 |
T |
A |
11: 70,551,691 (GRCm39) |
I217N |
possibly damaging |
Het |
| Fcho2 |
A |
T |
13: 98,891,604 (GRCm39) |
L386* |
probably null |
Het |
| Gm5114 |
C |
A |
7: 39,058,732 (GRCm39) |
V296F |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,909,475 (GRCm39) |
|
probably null |
Het |
| Helz2 |
A |
G |
2: 180,879,581 (GRCm39) |
V679A |
probably benign |
Het |
| Ifnar2 |
T |
C |
16: 91,201,060 (GRCm39) |
F434L |
probably benign |
Het |
| Isl1 |
A |
G |
13: 116,439,857 (GRCm39) |
S164P |
possibly damaging |
Het |
| Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
| Kat2b |
T |
A |
17: 53,967,116 (GRCm39) |
Y621* |
probably null |
Het |
| Kif2b |
T |
C |
11: 91,468,019 (GRCm39) |
H88R |
probably benign |
Het |
| Kit |
G |
A |
5: 75,799,722 (GRCm39) |
V485I |
|
Het |
| Klhl36 |
T |
C |
8: 120,596,887 (GRCm39) |
L196P |
probably damaging |
Het |
| Klk1b27 |
T |
A |
7: 43,703,932 (GRCm39) |
I25K |
probably damaging |
Het |
| Kmt2c |
T |
A |
5: 25,519,387 (GRCm39) |
Q2241L |
possibly damaging |
Het |
| Krt10 |
T |
A |
11: 99,278,434 (GRCm39) |
N242Y |
probably damaging |
Het |
| Krt36 |
T |
A |
11: 99,993,129 (GRCm39) |
I449F |
probably damaging |
Het |
| Med27 |
G |
T |
2: 29,236,875 (GRCm39) |
V7F |
possibly damaging |
Het |
| Mettl25b |
G |
A |
3: 87,837,282 (GRCm39) |
|
probably benign |
Het |
| Mxd1 |
C |
T |
6: 86,628,466 (GRCm39) |
V145M |
probably benign |
Het |
| Mylip |
T |
A |
13: 45,544,820 (GRCm39) |
F81L |
probably damaging |
Het |
| Nceh1 |
T |
A |
3: 27,276,885 (GRCm39) |
F69L |
probably null |
Het |
| Ndufs3 |
A |
T |
2: 90,732,773 (GRCm39) |
N104K |
probably damaging |
Het |
| Nfxl1 |
A |
C |
5: 72,716,473 (GRCm39) |
V46G |
unknown |
Het |
| Or51a39 |
T |
C |
7: 102,363,558 (GRCm39) |
T21A |
probably benign |
Het |
| Or51f1e |
T |
G |
7: 102,747,251 (GRCm39) |
I101S |
probably damaging |
Het |
| Or5as1 |
T |
A |
2: 86,980,928 (GRCm39) |
M26L |
probably benign |
Het |
| Or5m10b |
A |
G |
2: 85,699,832 (GRCm39) |
N299D |
probably benign |
Het |
| Palld |
T |
A |
8: 62,137,883 (GRCm39) |
H624L |
probably damaging |
Het |
| Pcbp2 |
T |
G |
15: 102,399,214 (GRCm39) |
L343R |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,572,208 (GRCm39) |
I531N |
unknown |
Het |
| Phip |
T |
C |
9: 82,809,017 (GRCm39) |
|
probably benign |
Het |
| Phldb2 |
A |
T |
16: 45,592,496 (GRCm39) |
|
probably null |
Het |
| Ppp2r5e |
G |
T |
12: 75,500,492 (GRCm39) |
T467N |
possibly damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,880,431 (GRCm39) |
I97M |
probably benign |
Het |
| Ptpn21 |
T |
A |
12: 98,655,284 (GRCm39) |
Q561L |
probably benign |
Het |
| Rnf38 |
A |
T |
4: 44,149,079 (GRCm39) |
H121Q |
possibly damaging |
Het |
| Sec1 |
A |
G |
7: 45,328,897 (GRCm39) |
F50S |
possibly damaging |
Het |
| Sec62 |
A |
G |
3: 30,873,024 (GRCm39) |
E369G |
unknown |
Het |
| Sh3rf1 |
A |
C |
8: 61,837,860 (GRCm39) |
T802P |
probably benign |
Het |
| Srd5a3 |
A |
G |
5: 76,301,493 (GRCm39) |
R241G |
probably benign |
Het |
| Suox |
T |
C |
10: 128,507,542 (GRCm39) |
N162S |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 35,942,688 (GRCm39) |
C1327Y |
probably damaging |
Het |
| Terf2ip |
A |
G |
8: 112,738,370 (GRCm39) |
D86G |
probably damaging |
Het |
| Tmc1 |
G |
A |
19: 20,793,593 (GRCm39) |
R523C |
probably damaging |
Het |
| Tmprss11e |
T |
A |
5: 86,861,758 (GRCm39) |
I263L |
possibly damaging |
Het |
| Tmtc4 |
T |
C |
14: 123,179,224 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf22 |
T |
A |
7: 143,192,173 (GRCm39) |
N171I |
unknown |
Het |
| Trpm3 |
A |
G |
19: 22,903,308 (GRCm39) |
S1035G |
probably damaging |
Het |
| U2af1 |
C |
T |
17: 31,867,854 (GRCm39) |
V72M |
possibly damaging |
Het |
| Uimc1 |
A |
G |
13: 55,233,447 (GRCm39) |
C70R |
possibly damaging |
Het |
| Vmn2r83 |
A |
G |
10: 79,313,853 (GRCm39) |
T154A |
probably benign |
Het |
| Xrn2 |
T |
C |
2: 146,871,304 (GRCm39) |
I302T |
probably damaging |
Het |
| Zbtb6 |
A |
G |
2: 37,318,677 (GRCm39) |
L417P |
probably damaging |
Het |
| Zdhhc14 |
C |
T |
17: 5,775,555 (GRCm39) |
S269L |
probably benign |
Het |
| Zfp735 |
T |
A |
11: 73,602,699 (GRCm39) |
F548I |
possibly damaging |
Het |
| Zfp809 |
T |
C |
9: 22,137,130 (GRCm39) |
|
probably null |
Het |
| Zranb3 |
A |
T |
1: 127,888,588 (GRCm39) |
D832E |
possibly 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 |
|
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 |
|
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 |
|
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'- CTTAAATACAGCTTGCTCACTCAG -3'
(R):5'- GGCCAGTTCTTCCTGTCATAAC -3'
Sequencing Primer
(F):5'- CTCACTCAGCAACTGATTTTTAATG -3'
(R):5'- GTCATAACTGCCCCAGTCC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation