Incidental Mutation 'R4925:Serpinb2'
| ID |
378921 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4925 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
107439153-107453330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107443219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 6
(M6K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009356]
[ENSMUST00000064916]
|
| AlphaFold |
P12388 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009356
AA Change: M6K
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000009356
Gene: ENSMUSG00000062345
AA Change: M6K
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
415 |
1.07e-188 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064916
AA Change: M6K
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000065277
Gene: ENSMUSG00000062345
AA Change: M6K
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
415 |
1.07e-188 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 87.7%
|
| Validation Efficiency |
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
T |
A |
11: 58,316,540 (GRCm39) |
C173* |
probably null |
Het |
| 3425401B19Rik |
T |
A |
14: 32,385,137 (GRCm39) |
H276L |
possibly damaging |
Het |
| Adam21 |
T |
G |
12: 81,607,163 (GRCm39) |
M200L |
probably benign |
Het |
| Adamts3 |
A |
T |
5: 89,832,182 (GRCm39) |
S974T |
probably benign |
Het |
| Adamtsl3 |
T |
A |
7: 82,251,507 (GRCm39) |
|
probably null |
Het |
| Atp8b2 |
A |
G |
3: 89,853,930 (GRCm39) |
|
probably null |
Het |
| Brd8 |
T |
C |
18: 34,740,388 (GRCm39) |
T552A |
probably benign |
Het |
| Btaf1 |
A |
G |
19: 36,988,733 (GRCm39) |
S1826G |
probably benign |
Het |
| Ccdc163 |
A |
G |
4: 116,568,528 (GRCm39) |
E77G |
possibly damaging |
Het |
| Ces2g |
A |
G |
8: 105,691,526 (GRCm39) |
R194G |
probably benign |
Het |
| Cip2a |
T |
C |
16: 48,836,726 (GRCm39) |
|
probably null |
Het |
| Cln8 |
A |
G |
8: 14,945,004 (GRCm39) |
H106R |
possibly damaging |
Het |
| Col12a1 |
T |
G |
9: 79,582,077 (GRCm39) |
L1391F |
probably damaging |
Het |
| Col16a1 |
G |
A |
4: 129,947,969 (GRCm39) |
D230N |
probably damaging |
Het |
| Crhbp |
C |
A |
13: 95,580,318 (GRCm39) |
G87V |
possibly damaging |
Het |
| Cyp3a16 |
C |
T |
5: 145,389,644 (GRCm39) |
M240I |
probably benign |
Het |
| Cyp4a14 |
A |
T |
4: 115,353,133 (GRCm39) |
W60R |
possibly damaging |
Het |
| Fam47e |
A |
G |
5: 92,733,149 (GRCm39) |
Y304C |
probably damaging |
Het |
| Fgfbp1 |
A |
T |
5: 44,136,634 (GRCm39) |
D219E |
probably damaging |
Het |
| Fgfr2 |
A |
T |
7: 129,787,002 (GRCm39) |
Y485N |
probably damaging |
Het |
| Fhdc1 |
C |
T |
3: 84,360,840 (GRCm39) |
V363M |
probably damaging |
Het |
| Foxb1 |
T |
A |
9: 69,667,437 (GRCm39) |
E31V |
probably damaging |
Het |
| Galnt9 |
T |
C |
5: 110,692,605 (GRCm39) |
V13A |
possibly damaging |
Het |
| Ghrl |
T |
C |
6: 113,693,218 (GRCm39) |
D77G |
probably damaging |
Het |
| Gpr85 |
A |
G |
6: 13,835,977 (GRCm39) |
V309A |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,731,472 (GRCm39) |
Y1622C |
probably damaging |
Het |
| Greb1l |
T |
A |
18: 10,547,447 (GRCm39) |
M1555K |
possibly damaging |
Het |
| Grin2a |
T |
A |
16: 9,487,687 (GRCm39) |
N404Y |
probably damaging |
Het |
| Gtpbp1 |
A |
C |
15: 79,600,169 (GRCm39) |
I399L |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,460,753 (GRCm39) |
S911P |
possibly damaging |
Het |
| Igkc |
A |
T |
6: 70,703,520 (GRCm39) |
K34* |
probably null |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Iqgap1 |
T |
A |
7: 80,415,065 (GRCm39) |
I149F |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,101,309 (GRCm39) |
A1934V |
probably benign |
Het |
| Lrp1 |
C |
A |
10: 127,410,944 (GRCm39) |
E1415* |
probably null |
Het |
| Lypd8l |
T |
A |
11: 58,501,513 (GRCm39) |
T157S |
probably damaging |
Het |
| Macf1 |
A |
C |
4: 123,420,445 (GRCm39) |
C270G |
probably benign |
Het |
| Marveld3 |
A |
G |
8: 110,674,943 (GRCm39) |
V291A |
probably benign |
Het |
| Med23 |
T |
C |
10: 24,786,645 (GRCm39) |
F917S |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Ncan |
A |
T |
8: 70,562,604 (GRCm39) |
D551E |
probably benign |
Het |
| Or1e23 |
A |
T |
11: 73,407,998 (GRCm39) |
I9N |
possibly damaging |
Het |
| Or4x6 |
T |
A |
2: 89,949,121 (GRCm39) |
T274S |
probably damaging |
Het |
| Or52h2 |
T |
C |
7: 103,839,387 (GRCm39) |
Y9C |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pla2g12a |
T |
C |
3: 129,672,467 (GRCm39) |
W34R |
probably damaging |
Het |
| Plekha7 |
A |
G |
7: 115,757,363 (GRCm39) |
F529S |
probably damaging |
Het |
| Potefam1 |
T |
C |
2: 111,048,961 (GRCm39) |
K273E |
probably benign |
Het |
| Ppl |
T |
A |
16: 4,922,846 (GRCm39) |
D215V |
probably damaging |
Het |
| Pramel15 |
A |
T |
4: 144,104,502 (GRCm39) |
M1K |
probably null |
Het |
| Prdm1 |
T |
A |
10: 44,316,165 (GRCm39) |
Y690F |
probably damaging |
Het |
| Prkcd |
T |
A |
14: 30,329,570 (GRCm39) |
D124V |
probably damaging |
Het |
| Ptprc |
C |
A |
1: 138,027,235 (GRCm39) |
D538Y |
probably benign |
Het |
| Rasl10b |
G |
A |
11: 83,303,505 (GRCm39) |
V21M |
probably damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,688,023 (GRCm39) |
Y657F |
probably benign |
Het |
| Rrn3 |
T |
C |
16: 13,617,836 (GRCm39) |
C360R |
probably damaging |
Het |
| Scarb1 |
T |
C |
5: 125,374,363 (GRCm39) |
T257A |
probably damaging |
Het |
| Slco4a1 |
T |
C |
2: 180,113,849 (GRCm39) |
Y429H |
probably benign |
Het |
| St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
| Taar3 |
T |
A |
10: 23,826,441 (GRCm39) |
F329Y |
probably damaging |
Het |
| Tardbp |
A |
T |
4: 148,703,108 (GRCm39) |
N285K |
probably benign |
Het |
| Tcstv7b |
A |
G |
13: 120,702,384 (GRCm39) |
Y60C |
probably damaging |
Het |
| Tnni2 |
A |
T |
7: 141,996,430 (GRCm39) |
E4V |
probably benign |
Het |
| Tnpo2 |
A |
T |
8: 85,776,654 (GRCm39) |
I454F |
probably damaging |
Het |
| Tpr |
T |
G |
1: 150,308,316 (GRCm39) |
H1690Q |
probably benign |
Het |
| Trav18 |
T |
C |
14: 54,068,577 (GRCm39) |
S6P |
probably benign |
Het |
| Trf |
T |
C |
9: 103,096,445 (GRCm39) |
N25S |
probably benign |
Het |
| Vmn1r59 |
T |
C |
7: 5,457,115 (GRCm39) |
N215S |
probably benign |
Het |
| Vmn2r2 |
T |
C |
3: 64,044,892 (GRCm39) |
M1V |
probably null |
Het |
| Wdr64 |
T |
C |
1: 175,552,268 (GRCm39) |
|
probably null |
Het |
| Wdr73 |
T |
C |
7: 80,542,943 (GRCm39) |
S222G |
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 |
|
|
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'- GTGATATGCACAGGATTGGTTACTG -3'
(R):5'- CAGGAGCAAGCCTACCATTC -3'
Sequencing Primer
(F):5'- CACAGGATTGGTTACTGTAAGC -3'
(R):5'- GGAGCAAGCCTACCATTCAATTCTG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation