Incidental Mutation 'R2283:Masp2'
ID 243208
Institutional Source Beutler Lab
Gene Symbol Masp2
Ensembl Gene ENSMUSG00000028979
Gene Name MBL associated serine protease 2
Synonyms MAp19, MASP-2
MMRRC Submission 040282-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R2283 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 148687011-148699956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 148690525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 261 (K261E)
Ref Sequence ENSEMBL: ENSMUSP00000049729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052060] [ENSMUST00000105701]
AlphaFold Q91WP0
Predicted Effect probably benign
Transcript: ENSMUST00000052060
AA Change: K261E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000049729
Gene: ENSMUSG00000028979
AA Change: K261E

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000101326
Gene: ENSMUSG00000028979

DomainStartEndE-ValueType
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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,253,635 (GRCm39) E1235G probably damaging Het
Anapc1 A T 2: 128,484,468 (GRCm39) H1165Q probably benign Het
Bhmt G A 13: 93,756,809 (GRCm39) P273L probably damaging Het
Clec18a A G 8: 111,802,140 (GRCm39) V283A probably benign Het
Dlg5 G A 14: 24,208,731 (GRCm39) P825L probably benign Het
Fas G A 19: 34,284,649 (GRCm39) G52D probably damaging Het
Fras1 T C 5: 96,802,164 (GRCm39) I1209T probably benign Het
Gpt2 T A 8: 86,242,818 (GRCm39) D283E probably benign Het
Hrh1 C T 6: 114,457,400 (GRCm39) T227I probably benign Het
Kif26a T C 12: 112,143,787 (GRCm39) F1347S possibly damaging Het
Krt1c T C 15: 101,722,822 (GRCm39) Y392C probably damaging Het
Nav2 G T 7: 49,141,152 (GRCm39) R899L probably damaging Het
Nuggc T C 14: 65,876,061 (GRCm39) V574A possibly damaging Het
Or2b6 G A 13: 21,823,190 (GRCm39) R168C probably damaging Het
Pcsk4 T C 10: 80,158,584 (GRCm39) E556G probably damaging Het
Ppa1 G A 10: 61,496,788 (GRCm39) W92* probably null Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Sp3 A C 2: 72,801,521 (GRCm39) I164S possibly damaging Het
St8sia3 G T 18: 64,404,801 (GRCm39) E359D probably damaging Het
Usp17lb A G 7: 104,489,859 (GRCm39) I355T possibly damaging Het
Zfp608 T A 18: 55,121,446 (GRCm39) K47I probably damaging Het
Zfp931 A G 2: 177,711,714 (GRCm39) V11A possibly 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
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
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
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'- ATGGCTGTTCTCCAGTGAATC -3'
(R):5'- TGCTGATGCTGCATAAGGGAC -3'

Sequencing Primer
(F):5'- AATCAACCTTTCTTTGCGGGG -3'
(R):5'- CTGATGCTGCATAAGGGACACTTTC -3'
Posted On 2014-10-16