Incidental Mutation 'R1517:Masp2'
| ID |
167090 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Masp2
|
| Ensembl Gene |
ENSMUSG00000028979 |
| Gene Name |
MBL associated serine protease 2 |
| Synonyms |
MAp19, MASP-2 |
| MMRRC Submission |
039563-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
R1517 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
148687011-148699956 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 148696563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 387
(T387S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049729
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045180]
[ENSMUST00000052060]
[ENSMUST00000084125]
[ENSMUST00000105699]
[ENSMUST00000105702]
[ENSMUST00000140897]
[ENSMUST00000165113]
[ENSMUST00000190552]
[ENSMUST00000186729]
[ENSMUST00000188134]
[ENSMUST00000187939]
[ENSMUST00000172073]
[ENSMUST00000186711]
[ENSMUST00000191450]
|
| AlphaFold |
Q91WP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045180
|
| SMART Domains |
Protein: ENSMUSP00000038113
Gene: ENSMUSG00000041459
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
105 |
176 |
1.38e-17 |
SMART |
|
RRM
|
192 |
258 |
7.03e-10 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052060
AA Change: T387S
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000049729
Gene: ENSMUSG00000028979
AA Change: T387S
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
18 |
137 |
4.71e-30 |
SMART |
|
EGF_CA
|
138 |
181 |
4.32e-10 |
SMART |
|
CUB
|
184 |
296 |
4.29e-33 |
SMART |
|
CCP
|
300 |
361 |
1.79e-12 |
SMART |
|
CCP
|
366 |
429 |
5.4e-7 |
SMART |
|
Tryp_SPc
|
443 |
678 |
1.3e-82 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084125
|
| SMART Domains |
Protein: ENSMUSP00000081142
Gene: ENSMUSG00000041459
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
105 |
176 |
1.38e-17 |
SMART |
|
RRM
|
192 |
258 |
7.03e-10 |
SMART |
|
low complexity region
|
273 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
404 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105699
|
| SMART Domains |
Protein: ENSMUSP00000101324
Gene: ENSMUSG00000041459
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
105 |
176 |
1.38e-17 |
SMART |
|
RRM
|
192 |
258 |
7.03e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105702
|
| SMART Domains |
Protein: ENSMUSP00000101327
Gene: ENSMUSG00000041459
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
105 |
176 |
1.38e-17 |
SMART |
|
RRM
|
192 |
258 |
7.03e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140897
|
| SMART Domains |
Protein: ENSMUSP00000135135
Gene: ENSMUSG00000041459
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RRM_2
|
1 |
28 |
2e-13 |
BLAST |
|
RRM
|
44 |
110 |
3e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147391
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189041
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154898
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188380
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186317
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187937
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188488
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165113
|
| SMART Domains |
Protein: ENSMUSP00000129342
Gene: ENSMUSG00000041459
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
105 |
176 |
1.38e-17 |
SMART |
|
RRM
|
192 |
258 |
7.03e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190552
|
| SMART Domains |
Protein: ENSMUSP00000141052
Gene: ENSMUSG00000041459
| Domain | Start | End | E-Value | Type |
|---|
|
RRM_2
|
1 |
56 |
6.1e-4 |
SMART |
|
RRM
|
72 |
138 |
3e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186729
|
| SMART Domains |
Protein: ENSMUSP00000139547
Gene: ENSMUSG00000041459
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RRM_1
|
1 |
37 |
1.8e-4 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188134
|
| SMART Domains |
Protein: ENSMUSP00000139476
Gene: ENSMUSG00000041459
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
105 |
176 |
1.38e-17 |
SMART |
|
RRM
|
192 |
258 |
7.03e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190287
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187939
|
| SMART Domains |
Protein: ENSMUSP00000140928
Gene: ENSMUSG00000041459
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
18 |
84 |
3e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172073
|
| SMART Domains |
Protein: ENSMUSP00000130963
Gene: ENSMUSG00000041459
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
105 |
176 |
1.38e-17 |
SMART |
|
RRM
|
192 |
258 |
7.03e-10 |
SMART |
|
low complexity region
|
274 |
285 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186711
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191450
|
| SMART Domains |
Protein: ENSMUSP00000140832
Gene: ENSMUSG00000041459
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
105 |
176 |
5.8e-20 |
SMART |
|
RRM
|
192 |
258 |
3e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191378
|
| Meta Mutation Damage Score |
0.0639 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.9%
|
| Validation Efficiency |
100% (67/67) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature protease. This protease cleaves complement components C2 and C4 in order to generate C3 convertase in the lectin pathway of the complement system. The encoded protease also plays a role in the coagulation cascade through cleavage of prothrombin to form thrombin. Myocardial infarction and acute stroke patients exhibit reduced serum concentrations of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous disruption of the exon encoding the small mannose-binding lectin (MBL)-associated protein results in a defective lectin-mediated complement pathway with a 20% reduction in the ability of serum components to cleave C3 and C4 in the presence of mannose. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,862,640 (GRCm39) |
K375R |
possibly damaging |
Het |
| Adrb2 |
T |
C |
18: 62,311,871 (GRCm39) |
N318S |
probably damaging |
Het |
| Akap5 |
A |
C |
12: 76,376,036 (GRCm39) |
E489D |
possibly damaging |
Het |
| Aldh7a1 |
T |
A |
18: 56,665,133 (GRCm39) |
I385F |
probably damaging |
Het |
| Astn1 |
T |
A |
1: 158,407,146 (GRCm39) |
|
probably benign |
Het |
| Atp7b |
T |
A |
8: 22,487,374 (GRCm39) |
T1314S |
probably damaging |
Het |
| Bhmt2 |
C |
A |
13: 93,798,847 (GRCm39) |
G325C |
probably damaging |
Het |
| Brpf1 |
T |
A |
6: 113,296,050 (GRCm39) |
V781E |
probably benign |
Het |
| Cacna1c |
T |
A |
6: 118,575,720 (GRCm39) |
Y1860F |
probably benign |
Het |
| Ccdc7a |
T |
C |
8: 129,788,162 (GRCm39) |
T56A |
probably damaging |
Het |
| Cep78 |
A |
G |
19: 15,937,027 (GRCm39) |
S560P |
probably damaging |
Het |
| Cnot1 |
G |
A |
8: 96,469,841 (GRCm39) |
T1343I |
probably benign |
Het |
| Coq10b |
T |
C |
1: 55,103,416 (GRCm39) |
S65P |
probably damaging |
Het |
| Creld1 |
T |
A |
6: 113,466,745 (GRCm39) |
C243S |
probably damaging |
Het |
| Cst12 |
A |
T |
2: 148,635,172 (GRCm39) |
I121F |
possibly damaging |
Het |
| Cyp26a1 |
A |
C |
19: 37,687,308 (GRCm39) |
E165A |
probably benign |
Het |
| Cyp2d12 |
T |
G |
15: 82,442,337 (GRCm39) |
M273R |
probably damaging |
Het |
| Dnajb7 |
T |
A |
15: 81,291,657 (GRCm39) |
S227C |
probably damaging |
Het |
| Evc |
T |
A |
5: 37,476,379 (GRCm39) |
Q390L |
probably damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,970 (GRCm39) |
L351* |
probably null |
Het |
| Fga |
T |
C |
3: 82,939,145 (GRCm39) |
S507P |
probably benign |
Het |
| Gba1 |
A |
T |
3: 89,113,455 (GRCm39) |
Y239F |
probably damaging |
Het |
| Golga2 |
C |
A |
2: 32,195,996 (GRCm39) |
Y843* |
probably null |
Het |
| Gria4 |
C |
A |
9: 4,793,865 (GRCm39) |
L64F |
probably damaging |
Het |
| Hectd3 |
A |
G |
4: 116,860,191 (GRCm39) |
Y803C |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,545,172 (GRCm39) |
K2812E |
probably damaging |
Het |
| Il17b |
T |
G |
18: 61,823,316 (GRCm39) |
V50G |
probably damaging |
Het |
| Itga2b |
A |
T |
11: 102,357,151 (GRCm39) |
L243* |
probably null |
Het |
| Kank4 |
C |
A |
4: 98,667,266 (GRCm39) |
V394L |
possibly damaging |
Het |
| Kat14 |
T |
A |
2: 144,215,711 (GRCm39) |
D65E |
probably benign |
Het |
| Kcnh3 |
T |
C |
15: 99,136,090 (GRCm39) |
Y696H |
probably damaging |
Het |
| Kctd19 |
C |
A |
8: 106,122,008 (GRCm39) |
D180Y |
probably damaging |
Het |
| Klra8 |
A |
C |
6: 130,092,603 (GRCm39) |
S233A |
probably benign |
Het |
| Midn |
C |
A |
10: 79,989,957 (GRCm39) |
T275N |
probably damaging |
Het |
| Mis18bp1 |
A |
G |
12: 65,180,587 (GRCm39) |
F965L |
probably benign |
Het |
| Myo3a |
G |
T |
2: 22,287,445 (GRCm39) |
V186L |
probably damaging |
Het |
| Ncoa2 |
T |
A |
1: 13,235,281 (GRCm39) |
N884I |
probably benign |
Het |
| Or10d4 |
T |
C |
9: 39,581,016 (GRCm39) |
I221T |
probably damaging |
Het |
| Or13c25 |
A |
T |
4: 52,911,502 (GRCm39) |
C97* |
probably null |
Het |
| Or8k35 |
T |
A |
2: 86,424,948 (GRCm39) |
T75S |
probably damaging |
Het |
| Osr2 |
T |
C |
15: 35,300,813 (GRCm39) |
V123A |
probably benign |
Het |
| P4ha2 |
A |
G |
11: 54,008,471 (GRCm39) |
H226R |
probably benign |
Het |
| Pcdhb16 |
T |
A |
18: 37,611,151 (GRCm39) |
V37E |
probably benign |
Het |
| Pcdhb18 |
T |
A |
18: 37,622,673 (GRCm39) |
M1K |
probably null |
Het |
| Pcsk1 |
T |
A |
13: 75,246,166 (GRCm39) |
Y181* |
probably null |
Het |
| Pros1 |
G |
T |
16: 62,705,875 (GRCm39) |
C63F |
probably damaging |
Het |
| Ranbp3l |
T |
A |
15: 9,065,081 (GRCm39) |
C353* |
probably null |
Het |
| Rev3l |
T |
C |
10: 39,714,439 (GRCm39) |
Y2388H |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rpl12-ps1 |
G |
T |
1: 36,997,458 (GRCm39) |
|
noncoding transcript |
Het |
| Rttn |
T |
C |
18: 89,131,474 (GRCm39) |
V1951A |
probably benign |
Het |
| Scn9a |
G |
A |
2: 66,335,371 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
T |
C |
5: 142,113,591 (GRCm39) |
F1546S |
probably damaging |
Het |
| Sh3glb2 |
C |
T |
2: 30,244,987 (GRCm39) |
R71Q |
probably damaging |
Het |
| Slc30a6 |
T |
C |
17: 74,715,842 (GRCm39) |
F101L |
probably benign |
Het |
| Snrpd1 |
T |
C |
18: 10,626,913 (GRCm39) |
I60T |
probably damaging |
Het |
| Sox10 |
T |
A |
15: 79,043,378 (GRCm39) |
E218D |
probably benign |
Het |
| Tekt3 |
C |
A |
11: 62,961,316 (GRCm39) |
H162N |
probably damaging |
Het |
| Tnfsf13 |
T |
C |
11: 69,575,564 (GRCm39) |
S246G |
possibly damaging |
Het |
| Trim10 |
T |
A |
17: 37,183,346 (GRCm39) |
I214N |
probably damaging |
Het |
| Trp63 |
C |
A |
16: 25,708,003 (GRCm39) |
D566E |
probably damaging |
Het |
| Uck2 |
T |
C |
1: 167,062,293 (GRCm39) |
D156G |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,225 (GRCm39) |
S314R |
possibly damaging |
Het |
| Zfp467 |
C |
T |
6: 48,415,170 (GRCm39) |
R494H |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,601,470 (GRCm39) |
D138V |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,298,925 (GRCm39) |
E445G |
probably damaging |
Het |
|
| Other mutations in Masp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00592:Masp2
|
APN |
4 |
148,687,186 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01284:Masp2
|
APN |
4 |
148,698,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02040:Masp2
|
APN |
4 |
148,688,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02243:Masp2
|
APN |
4 |
148,687,525 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02490:Masp2
|
APN |
4 |
148,692,400 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02517:Masp2
|
APN |
4 |
148,698,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02997:Masp2
|
APN |
4 |
148,687,632 (GRCm39) |
splice site |
probably benign |
|
|
R0408:Masp2
|
UTSW |
4 |
148,690,496 (GRCm39) |
missense |
probably benign |
|
|
R1630:Masp2
|
UTSW |
4 |
148,698,490 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1634:Masp2
|
UTSW |
4 |
148,698,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1873:Masp2
|
UTSW |
4 |
148,698,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2208:Masp2
|
UTSW |
4 |
148,698,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2283:Masp2
|
UTSW |
4 |
148,690,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2876:Masp2
|
UTSW |
4 |
148,692,458 (GRCm39) |
missense |
probably benign |
|
|
R3921:Masp2
|
UTSW |
4 |
148,690,188 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4586:Masp2
|
UTSW |
4 |
148,698,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4753:Masp2
|
UTSW |
4 |
148,696,608 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4877:Masp2
|
UTSW |
4 |
148,687,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5169:Masp2
|
UTSW |
4 |
148,690,571 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5512:Masp2
|
UTSW |
4 |
148,698,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6161:Masp2
|
UTSW |
4 |
148,698,469 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6291:Masp2
|
UTSW |
4 |
148,687,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7039:Masp2
|
UTSW |
4 |
148,687,043 (GRCm39) |
start codon destroyed |
probably benign |
0.03 |
|
R7164:Masp2
|
UTSW |
4 |
148,694,572 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7183:Masp2
|
UTSW |
4 |
148,696,614 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7417:Masp2
|
UTSW |
4 |
148,690,178 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7718:Masp2
|
UTSW |
4 |
148,687,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7748:Masp2
|
UTSW |
4 |
148,690,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7852:Masp2
|
UTSW |
4 |
148,687,189 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7986:Masp2
|
UTSW |
4 |
148,687,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8078:Masp2
|
UTSW |
4 |
148,698,235 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8203:Masp2
|
UTSW |
4 |
148,696,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8257:Masp2
|
UTSW |
4 |
148,687,497 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8465:Masp2
|
UTSW |
4 |
148,696,516 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9324:Masp2
|
UTSW |
4 |
148,692,485 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9350:Masp2
|
UTSW |
4 |
148,692,396 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9706:Masp2
|
UTSW |
4 |
148,696,597 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0025:Masp2
|
UTSW |
4 |
148,687,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTTCCTCAGAGGCCACTATCTCC -3'
(R):5'- AATGGCGTCCATTACCAGGCTC -3'
Sequencing Primer
(F):5'- GAGGCCACTATCTCCACTGC -3'
(R):5'- GTTTGCTTGCAAAGTGGAAACC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation