Incidental Mutation 'R1895:Serpinb2'
| ID |
209705 |
| 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 |
039915-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1895 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
107439153-107453330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107452337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 305
(V305D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009356]
[ENSMUST00000064916]
[ENSMUST00000146597]
[ENSMUST00000182198]
|
| AlphaFold |
P12388 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009356
AA Change: V305D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000009356
Gene: ENSMUSG00000062345
AA Change: V305D
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
415 |
1.07e-188 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064916
AA Change: V305D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065277
Gene: ENSMUSG00000062345
AA Change: V305D
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
415 |
1.07e-188 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143832
AA Change: V181D
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114751
Gene: ENSMUSG00000062345
AA Change: V181D
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
1 |
189 |
2.36e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146597
AA Change: V30D
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172762
|
| 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 |
|
| Meta Mutation Damage Score |
0.6119 |
| Coding Region Coverage |
- 1x: 97.1%
- 3x: 96.2%
- 10x: 93.2%
- 20x: 86.6%
|
| Validation Efficiency |
96% (100/104) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,039,551 (GRCm39) |
S253P |
probably damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,412,314 (GRCm39) |
D431G |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,522,368 (GRCm39) |
C5923Y |
probably damaging |
Het |
| Akr1b10 |
T |
A |
6: 34,365,805 (GRCm39) |
I110N |
probably damaging |
Het |
| Apba2 |
T |
C |
7: 64,394,378 (GRCm39) |
|
probably null |
Het |
| Arhgef12 |
G |
T |
9: 42,917,152 (GRCm39) |
Q396K |
probably damaging |
Het |
| Arpc1b |
A |
G |
5: 145,059,443 (GRCm39) |
T56A |
probably null |
Het |
| Atoh1 |
T |
C |
6: 64,706,443 (GRCm39) |
V46A |
probably benign |
Het |
| AU015836 |
T |
C |
X: 93,012,985 (GRCm39) |
|
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Capn13 |
T |
C |
17: 73,657,520 (GRCm39) |
E240G |
possibly damaging |
Het |
| Cdh8 |
T |
C |
8: 100,006,189 (GRCm39) |
T133A |
possibly damaging |
Het |
| Cep295 |
T |
C |
9: 15,243,399 (GRCm39) |
T1686A |
possibly damaging |
Het |
| Col4a3 |
A |
T |
1: 82,656,829 (GRCm39) |
K749N |
unknown |
Het |
| Col6a3 |
T |
A |
1: 90,731,433 (GRCm39) |
M1000L |
probably benign |
Het |
| Coq8b |
G |
A |
7: 26,939,299 (GRCm39) |
V150I |
possibly damaging |
Het |
| Dmxl1 |
G |
T |
18: 50,088,981 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,835,494 (GRCm39) |
D990G |
probably benign |
Het |
| Dpp7 |
G |
T |
2: 25,243,691 (GRCm39) |
|
probably null |
Het |
| Eif3l |
A |
G |
15: 78,973,677 (GRCm39) |
N364S |
possibly damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,476,902 (GRCm39) |
D718G |
possibly damaging |
Het |
| F930017D23Rik |
G |
A |
10: 43,469,440 (GRCm39) |
|
noncoding transcript |
Het |
| Fam20a |
T |
C |
11: 109,564,380 (GRCm39) |
K458E |
probably benign |
Het |
| Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
| Fut2 |
A |
G |
7: 45,300,748 (GRCm39) |
F8S |
probably damaging |
Het |
| Gad2 |
A |
T |
2: 22,575,440 (GRCm39) |
T515S |
probably benign |
Het |
| Glmn |
T |
C |
5: 107,718,110 (GRCm39) |
D269G |
probably benign |
Het |
| Gpatch4 |
A |
G |
3: 87,959,409 (GRCm39) |
Y106C |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,562,123 (GRCm39) |
W576R |
probably damaging |
Het |
| Hdac7 |
T |
C |
15: 97,694,767 (GRCm39) |
D701G |
probably damaging |
Het |
| Hectd2 |
T |
A |
19: 36,591,860 (GRCm39) |
I687K |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,295,647 (GRCm39) |
S2619P |
probably damaging |
Het |
| Ilf3 |
T |
A |
9: 21,316,063 (GRCm39) |
|
probably benign |
Het |
| Kdm4b |
T |
A |
17: 56,704,340 (GRCm39) |
V272E |
probably damaging |
Het |
| Kera |
A |
G |
10: 97,445,009 (GRCm39) |
K123E |
probably benign |
Het |
| Kif11 |
G |
A |
19: 37,375,847 (GRCm39) |
R220K |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,520,152 (GRCm39) |
V1986E |
probably benign |
Het |
| Lrp11 |
T |
C |
10: 7,499,540 (GRCm39) |
Y244H |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,555,159 (GRCm39) |
D320V |
unknown |
Het |
| Map4k5 |
A |
T |
12: 69,892,529 (GRCm39) |
D133E |
probably damaging |
Het |
| Megf11 |
A |
T |
9: 64,586,558 (GRCm39) |
D461V |
probably damaging |
Het |
| Muc5b |
A |
C |
7: 141,411,382 (GRCm39) |
T1443P |
unknown |
Het |
| Mxi1 |
G |
A |
19: 53,358,775 (GRCm39) |
R236H |
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,386,396 (GRCm39) |
W1211R |
probably damaging |
Het |
| Ncoa3 |
T |
A |
2: 165,901,097 (GRCm39) |
N896K |
possibly damaging |
Het |
| Nmt2 |
T |
A |
2: 3,323,672 (GRCm39) |
I355N |
probably benign |
Het |
| Nxpe5 |
T |
C |
5: 138,249,785 (GRCm39) |
V525A |
probably damaging |
Het |
| Oas1f |
A |
T |
5: 120,993,648 (GRCm39) |
T287S |
probably benign |
Het |
| Or1n1b |
A |
T |
2: 36,780,458 (GRCm39) |
M134K |
possibly damaging |
Het |
| Or5ae1 |
T |
C |
7: 84,565,487 (GRCm39) |
S167P |
probably benign |
Het |
| Or6ae1 |
T |
A |
7: 139,742,726 (GRCm39) |
I46F |
possibly damaging |
Het |
| Or7a38 |
T |
A |
10: 78,752,758 (GRCm39) |
I28N |
probably damaging |
Het |
| Or8b3 |
T |
A |
9: 38,314,182 (GRCm39) |
M1K |
probably null |
Het |
| Pakap |
T |
C |
4: 57,638,068 (GRCm39) |
V35A |
probably benign |
Het |
| Panx1 |
A |
G |
9: 14,918,822 (GRCm39) |
C346R |
probably benign |
Het |
| Plekha7 |
T |
C |
7: 115,744,209 (GRCm39) |
E764G |
probably damaging |
Het |
| Plet1 |
A |
G |
9: 50,415,652 (GRCm39) |
|
probably null |
Het |
| Plod2 |
A |
G |
9: 92,489,188 (GRCm39) |
S707G |
probably damaging |
Het |
| Plscr4 |
G |
A |
9: 92,365,889 (GRCm39) |
V120I |
probably damaging |
Het |
| Pramel31 |
T |
A |
4: 144,088,435 (GRCm39) |
V77E |
probably benign |
Het |
| Prob1 |
T |
A |
18: 35,785,942 (GRCm39) |
T771S |
possibly damaging |
Het |
| Rasa3 |
A |
G |
8: 13,681,768 (GRCm39) |
|
probably benign |
Het |
| Ror2 |
T |
C |
13: 53,285,885 (GRCm39) |
I110V |
probably damaging |
Het |
| Sec24d |
A |
T |
3: 123,147,043 (GRCm39) |
H667L |
probably benign |
Het |
| Sema3d |
A |
G |
5: 12,623,810 (GRCm39) |
Q573R |
probably damaging |
Het |
| Slc11a2 |
G |
A |
15: 100,301,775 (GRCm39) |
R249C |
probably benign |
Het |
| Slc14a1 |
T |
C |
18: 78,152,912 (GRCm39) |
I276V |
possibly damaging |
Het |
| Snx19 |
T |
A |
9: 30,343,620 (GRCm39) |
N593K |
probably damaging |
Het |
| Ssh2 |
C |
G |
11: 77,340,571 (GRCm39) |
D574E |
probably damaging |
Het |
| Stil |
T |
C |
4: 114,881,072 (GRCm39) |
S539P |
probably benign |
Het |
| Syt4 |
T |
C |
18: 31,577,141 (GRCm39) |
K71R |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,385,015 (GRCm39) |
H524L |
probably damaging |
Het |
| Tex30 |
C |
T |
1: 44,130,564 (GRCm39) |
G68D |
probably damaging |
Het |
| Tm4sf19 |
A |
G |
16: 32,226,500 (GRCm39) |
Y138C |
probably damaging |
Het |
| Tmem43 |
A |
T |
6: 91,463,891 (GRCm39) |
I389F |
probably benign |
Het |
| Trpm1 |
A |
T |
7: 63,873,556 (GRCm39) |
N488Y |
probably damaging |
Het |
| Tshz1 |
A |
T |
18: 84,031,558 (GRCm39) |
L950Q |
probably damaging |
Het |
| Vmn1r16 |
T |
C |
6: 57,299,885 (GRCm39) |
I246V |
probably benign |
Het |
| Vmn1r188 |
T |
G |
13: 22,272,815 (GRCm39) |
S256R |
possibly damaging |
Het |
| Zfp12 |
G |
A |
5: 143,231,133 (GRCm39) |
E487K |
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 |
|
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 |
|
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'- TCTTAAATACAGCTTGCTCACTCAG -3'
(R):5'- GGCCAGTTCTTCCTGTCATAAC -3'
Sequencing Primer
(F):5'- CTCACTCAGCAACTGATTTTTAATG -3'
(R):5'- CTCCTCGGTGACATCCACG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation