Incidental Mutation 'IGL02243:Masp2'
ID 286061
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Masp2
Ensembl Gene ENSMUSG00000028979
Gene Name MBL associated serine protease 2
Synonyms MAp19, MASP-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # IGL02243
Quality Score
Chromosome 4
Chromosomal Location 148687011-148699956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 148687525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 104 (D104V)
Ref Sequence ENSEMBL: ENSMUSP00000101326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052060] [ENSMUST00000105701]
AlphaFold Q91WP0
Predicted Effect probably benign
Transcript: ENSMUST00000052060
AA Change: D104V

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000049729
Gene: ENSMUSG00000028979
AA Change: D104V

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: ENSMUST00000105701
AA Change: D104V

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101326
Gene: ENSMUSG00000028979
AA Change: D104V

CUB 18 137 4.71e-30 SMART
EGF_CA 138 181 4.32e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136647
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154898
Coding Region Coverage
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc2 A G 10: 80,138,175 (GRCm39) Y87C probably damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Brsk2 T C 7: 141,547,036 (GRCm39) F493S probably damaging Het
Cd19 T C 7: 126,009,965 (GRCm39) probably null Het
Cfap91 T C 16: 38,162,142 (GRCm39) probably benign Het
Chd2 T C 7: 73,147,456 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Ddx19a T G 8: 111,703,088 (GRCm39) I450L probably benign Het
Edn2 G A 4: 120,019,229 (GRCm39) probably null Het
Elp2 G A 18: 24,755,663 (GRCm39) R470Q probably benign Het
Fhdc1 T G 3: 84,381,947 (GRCm39) M1L possibly damaging Het
Gba2 A T 4: 43,568,719 (GRCm39) I619N probably benign Het
Glce A G 9: 61,977,422 (GRCm39) F154S probably damaging Het
Gm3476 A T 14: 6,122,811 (GRCm38) C195* probably null Het
Hsp90aa1 A G 12: 110,661,525 (GRCm39) S164P probably damaging Het
Iqcg T C 16: 32,865,962 (GRCm39) D127G probably damaging Het
Jag2 G A 12: 112,879,965 (GRCm39) T381I possibly damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lhx2 T A 2: 38,243,531 (GRCm39) probably benign Het
Lrrc2 A T 9: 110,799,125 (GRCm39) N158I probably damaging Het
M1ap C T 6: 83,003,269 (GRCm39) P389S probably damaging Het
Met G A 6: 17,549,093 (GRCm39) V982I probably damaging Het
Msh2 T A 17: 87,985,796 (GRCm39) probably benign Het
Myh9 A G 15: 77,651,682 (GRCm39) L1509P probably damaging Het
Mylk2 A G 2: 152,762,473 (GRCm39) H554R probably damaging Het
Oxr1 T G 15: 41,399,097 (GRCm39) probably benign Het
Pdp1 A T 4: 11,961,873 (GRCm39) V146D probably benign Het
Pdzrn4 A T 15: 92,668,577 (GRCm39) M910L probably benign Het
Prl2a1 T C 13: 27,991,400 (GRCm39) probably benign Het
Rapgef6 C T 11: 54,567,226 (GRCm39) P1136S probably damaging Het
Rasgef1c A T 11: 49,848,217 (GRCm39) S69C possibly damaging Het
Rnaseh1 C T 12: 28,705,631 (GRCm39) R152W probably damaging Het
Sele T C 1: 163,880,537 (GRCm39) V373A probably benign Het
Tmem67 G A 4: 12,070,584 (GRCm39) S314L possibly damaging Het
Traf4 T C 11: 78,051,343 (GRCm39) E271G probably benign Het
Trim39 T C 17: 36,571,276 (GRCm39) D494G probably damaging Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q probably damaging Het
Other mutations in Masp2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R1517:Masp2 UTSW 4 148,696,563 (GRCm39) missense possibly damaging 0.74
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
Posted On 2015-04-16