Incidental Mutation 'R1873:Masp2'
ID 210922
Institutional Source Beutler Lab
Gene Symbol Masp2
Ensembl Gene ENSMUSG00000028979
Gene Name MBL associated serine protease 2
Synonyms MAp19, MASP-2
MMRRC Submission 039895-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R1873 (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 148698952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 678 (I678F)
Ref Sequence ENSEMBL: ENSMUSP00000049729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045180] [ENSMUST00000052060] [ENSMUST00000084125] [ENSMUST00000095719] [ENSMUST00000105699] [ENSMUST00000105700] [ENSMUST00000105702] [ENSMUST00000186729] [ENSMUST00000165113] [ENSMUST00000172073] [ENSMUST00000188134] [ENSMUST00000187939] [ENSMUST00000186711] [ENSMUST00000140897] [ENSMUST00000186947] [ENSMUST00000190552] [ENSMUST00000191450] [ENSMUST00000190696] [ENSMUST00000189048]
AlphaFold Q91WP0
Predicted Effect probably benign
Transcript: ENSMUST00000045180
SMART Domains Protein: ENSMUSP00000038113
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
RRM 105 176 1.38e-17 SMART
RRM 192 258 7.03e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000052060
AA Change: I678F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049729
Gene: ENSMUSG00000028979
AA Change: I678F

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: ENSMUST00000084125
SMART Domains Protein: ENSMUSP00000081142
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
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: ENSMUST00000095719
SMART Domains Protein: ENSMUSP00000093386
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
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: ENSMUST00000105699
SMART Domains Protein: ENSMUSP00000101324
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
RRM 105 176 1.38e-17 SMART
RRM 192 258 7.03e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105700
SMART Domains Protein: ENSMUSP00000101325
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
RRM 105 176 1.38e-17 SMART
RRM 192 258 7.03e-10 SMART
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: ENSMUST00000186729
SMART Domains Protein: ENSMUSP00000139547
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
Pfam:RRM_1 1 37 1.8e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165113
SMART Domains Protein: ENSMUSP00000129342
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
RRM 105 176 1.38e-17 SMART
RRM 192 258 7.03e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172073
SMART Domains Protein: ENSMUSP00000130963
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
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: ENSMUST00000188134
SMART Domains Protein: ENSMUSP00000139476
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
RRM 105 176 1.38e-17 SMART
RRM 192 258 7.03e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187939
SMART Domains Protein: ENSMUSP00000140928
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
RRM 18 84 3e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147391
Predicted Effect probably benign
Transcript: ENSMUST00000186711
Predicted Effect probably benign
Transcript: ENSMUST00000185824
Predicted Effect probably benign
Transcript: ENSMUST00000140897
SMART Domains Protein: ENSMUSP00000135135
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
Blast:RRM_2 1 28 2e-13 BLAST
RRM 44 110 3e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186947
SMART Domains Protein: ENSMUSP00000140529
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
RRM 105 176 5.8e-20 SMART
low complexity region 215 243 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189041
Predicted Effect probably benign
Transcript: ENSMUST00000188488
Predicted Effect probably benign
Transcript: ENSMUST00000190287
Predicted Effect probably benign
Transcript: ENSMUST00000191378
Predicted Effect probably benign
Transcript: ENSMUST00000190552
SMART Domains Protein: ENSMUSP00000141052
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
RRM_2 1 56 6.1e-4 SMART
RRM 72 138 3e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190630
Predicted Effect probably benign
Transcript: ENSMUST00000191450
SMART Domains Protein: ENSMUSP00000140832
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
RRM 105 176 5.8e-20 SMART
RRM 192 258 3e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190696
SMART Domains Protein: ENSMUSP00000139637
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
Blast:RRM_2 55 79 8e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000189048
SMART Domains Protein: ENSMUSP00000140364
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
RRM 105 176 1.38e-17 SMART
RRM 192 258 7.03e-10 SMART
Meta Mutation Damage Score 0.7751 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 92.9%
Validation Efficiency 98% (82/84)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,870,781 (GRCm39) I124L probably benign Het
Abi3bp A G 16: 56,394,862 (GRCm39) Y190C probably damaging Het
Adam34 A C 8: 44,104,843 (GRCm39) N267K probably benign Het
Anxa5 T C 3: 36,503,551 (GRCm39) D301G probably damaging Het
Atf7ip G T 6: 136,536,886 (GRCm39) D40Y probably damaging Het
Cacna2d2 T G 9: 107,391,071 (GRCm39) M400R probably damaging Het
Cd96 C A 16: 45,938,335 (GRCm39) L43F probably damaging Het
Cep120 T C 18: 53,871,560 (GRCm39) E104G probably damaging Het
Cfap221 T C 1: 119,881,389 (GRCm39) I358V probably benign Het
Cfhr4 C T 1: 139,702,398 (GRCm39) E29K probably damaging Het
Chil4 C T 3: 106,113,414 (GRCm39) E168K probably benign Het
Clca3a1 A G 3: 144,452,590 (GRCm39) V631A probably damaging Het
Cluh C T 11: 74,552,902 (GRCm39) A649V possibly damaging Het
Commd9 A G 2: 101,727,502 (GRCm39) T99A probably benign Het
Csgalnact1 T C 8: 68,854,036 (GRCm39) N255S probably benign Het
Cyth3 T A 5: 143,683,516 (GRCm39) H138Q possibly damaging Het
Dnah7a A T 1: 53,495,691 (GRCm39) probably benign Het
Fbxl18 G A 5: 142,871,978 (GRCm39) A419V probably damaging Het
Fyco1 A G 9: 123,652,303 (GRCm39) V1135A probably benign Het
Glcci1 C A 6: 8,537,837 (GRCm39) H152N probably benign Het
Gm10477 T A X: 55,570,127 (GRCm39) F9Y probably damaging Het
Gnrhr A G 5: 86,330,060 (GRCm39) L320P probably damaging Het
Gorasp1 A T 9: 119,759,306 (GRCm39) S138T probably benign Het
Hars1 C A 18: 36,900,294 (GRCm39) Q469H probably damaging Het
Homer2 T C 7: 81,286,111 (GRCm39) K34E probably damaging Het
Hscb T C 5: 110,978,823 (GRCm39) I198V probably benign Het
Kat6b T C 14: 21,567,057 (GRCm39) S39P probably damaging Het
Kcnk12 G T 17: 88,053,499 (GRCm39) Q388K probably damaging Het
Kcnq3 A G 15: 65,874,104 (GRCm39) I548T probably benign Het
Mark2 A G 19: 7,261,880 (GRCm39) Y351H probably damaging Het
Mc4r A T 18: 66,992,531 (GRCm39) I194N probably damaging Het
Ms4a6d A G 19: 11,579,223 (GRCm39) S85P probably damaging Het
Myh4 T A 11: 67,145,569 (GRCm39) Y1351N probably benign Het
Myo16 A G 8: 10,322,789 (GRCm39) D73G probably damaging Het
Mzt1 C T 14: 99,278,097 (GRCm39) probably null Het
Nalcn G A 14: 123,521,013 (GRCm39) H1631Y probably benign Het
Ncf2 A G 1: 152,701,661 (GRCm39) N213S probably benign Het
Nf1 C A 11: 79,437,987 (GRCm39) T99K probably damaging Het
Nsf T C 11: 103,749,843 (GRCm39) S547G probably damaging Het
Ntrk3 T A 7: 78,112,587 (GRCm39) I190F probably benign Het
Obsl1 T C 1: 75,474,877 (GRCm39) Y841C probably damaging Het
Ogdh A T 11: 6,290,438 (GRCm39) probably benign Het
Or2ag12 T A 7: 106,277,691 (GRCm39) M1L probably damaging Het
Or5b12 C T 19: 12,896,852 (GRCm39) V274M probably damaging Het
Otog G A 7: 45,918,767 (GRCm39) V948I probably damaging Het
Plekhm1 T C 11: 103,264,824 (GRCm39) D880G probably benign Het
Pnliprp2 G T 19: 58,751,821 (GRCm39) V189L probably benign Het
Polg A G 7: 79,106,241 (GRCm39) L678S probably benign Het
Ptprm C T 17: 66,995,350 (GRCm39) V1293I probably damaging Het
Pwwp3a T A 10: 80,068,442 (GRCm39) D195E possibly damaging Het
Rhou A T 8: 124,387,990 (GRCm39) R241W probably damaging Het
Rtn4 A T 11: 29,686,437 (GRCm39) N264I probably damaging Het
Sez6l T C 5: 112,621,276 (GRCm39) probably benign Het
Sost T C 11: 101,855,069 (GRCm39) E80G probably damaging Het
Spag16 C T 1: 69,935,744 (GRCm39) probably benign Het
Speer4f2 A T 5: 17,579,447 (GRCm39) N82I probably damaging Het
Spef2 C T 15: 9,584,194 (GRCm39) E1624K probably damaging Het
Taf1b T A 12: 24,606,668 (GRCm39) L496Q possibly damaging Het
Tarbp1 A G 8: 127,173,786 (GRCm39) I976T probably damaging Het
Tex14 T A 11: 87,390,431 (GRCm39) V376D probably damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tm9sf1 T C 14: 55,873,680 (GRCm39) D606G probably damaging Het
Tmc2 A C 2: 130,090,676 (GRCm39) N674T possibly damaging Het
Top3a C A 11: 60,638,810 (GRCm39) E562* probably null Het
Umodl1 A T 17: 31,201,238 (GRCm39) D389V probably damaging Het
Uso1 T C 5: 92,340,718 (GRCm39) probably benign Het
Vmn1r205 A G 13: 22,776,223 (GRCm39) V293A possibly damaging Het
Vmn2r107 A G 17: 20,565,840 (GRCm39) T52A probably benign Het
Vmn2r4 C T 3: 64,298,479 (GRCm39) V461I possibly damaging Het
Vmn2r99 A T 17: 19,582,415 (GRCm39) I7F probably benign Het
Vps11 A G 9: 44,271,233 (GRCm39) F80S probably damaging Het
Wdr43 A G 17: 71,940,647 (GRCm39) S258G probably benign Het
Zbtb24 A G 10: 41,327,123 (GRCm39) D3G probably benign Het
Zc3hav1 C T 6: 38,309,692 (GRCm39) V377I possibly damaging Het
Zfp668 T C 7: 127,465,654 (GRCm39) probably null 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
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'- GTAAGAGTAAGCGCTAACATGCTC -3'
(R):5'- GGTTGGCCAAGCACTGTTAAAC -3'

Sequencing Primer
(F):5'- GTAAGCGCTAACATGCTCTGTGC -3'
(R):5'- CACAAATCAAAGCTGATATTGGC -3'
Posted On 2014-06-30