Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01284:Masp2'

72649

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 #

IGL01284

Quality Score

Status

Chromosome

Chromosomal Location

148687011-148699956 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 148698464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 515 (E515G)

Ref Sequence

ENSEMBL: ENSMUSP00000049729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045180] [ENSMUST00000052060] [ENSMUST00000084125] [ENSMUST00000095719] [ENSMUST00000105699] [ENSMUST00000105700] [ENSMUST00000105702] [ENSMUST00000172073] [ENSMUST00000186729] [ENSMUST00000188134] [ENSMUST00000165113] [ENSMUST00000186711] [ENSMUST00000140897] [ENSMUST00000186947] [ENSMUST00000187939] [ENSMUST00000190696] [ENSMUST00000191450] [ENSMUST00000190552] [ENSMUST00000189048]

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

probably damaging
Transcript: ENSMUST00000052060
AA Change: E515G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049729
Gene: ENSMUSG00000028979
AA Change: E515G

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: ENSMUST00000095719

SMART Domains

Protein: ENSMUSP00000093386
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: 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: ENSMUST00000105700

SMART Domains

Protein: ENSMUSP00000101325
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

noncoding transcript
Transcript: ENSMUST00000186317

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187937

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154898

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: 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: 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: ENSMUST00000147391

Predicted Effect

probably benign
Transcript: ENSMUST00000186711

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: ENSMUST00000185824

Predicted Effect

probably benign
Transcript: ENSMUST00000186947

SMART Domains

Protein: ENSMUSP00000140529
Gene: ENSMUSG00000041459

Domain	Start	End	E-Value	Type
RRM	105	176	5.8e-20	SMART
low complexity region	215	243	N/A	INTRINSIC

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

noncoding transcript
Transcript: ENSMUST00000189041

Predicted Effect

probably benign
Transcript: ENSMUST00000188488

Predicted Effect

probably benign
Transcript: ENSMUST00000191378

Predicted Effect

probably benign
Transcript: ENSMUST00000190696

SMART Domains

Protein: ENSMUSP00000139637
Gene: ENSMUSG00000041459

Domain	Start	End	E-Value	Type
Blast:RRM_2	55	79	8e-11	BLAST

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: 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: ENSMUST00000190630

Predicted Effect

probably benign
Transcript: ENSMUST00000189048

SMART Domains

Protein: ENSMUSP00000140364
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

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	A	T	6: 86,827,035 (GRCm39)	M1L	possibly damaging	Het
Agr2	A	G	12: 36,045,580 (GRCm39)	D22G	possibly damaging	Het
C9orf72	A	T	4: 35,218,808 (GRCm39)	I17N	probably damaging	Het
Cck	G	T	9: 121,319,236 (GRCm39)	N82K	probably benign	Het
Cdh23	A	T	10: 60,301,876 (GRCm39)	I402N	possibly damaging	Het
Cfap157	T	C	2: 32,671,491 (GRCm39)	D105G	possibly damaging	Het
Dhx9	C	A	1: 153,340,644 (GRCm39)	L665F	probably damaging	Het
Dlg5	T	C	14: 24,196,265 (GRCm39)	E1621G	probably damaging	Het
Dst	A	G	1: 34,203,009 (GRCm39)	Y713C	probably damaging	Het
Fbp2	T	C	13: 62,988,099 (GRCm39)	S271G	probably benign	Het
Gp5	G	T	16: 30,128,028 (GRCm39)	S215R	probably benign	Het
Kpnb1	A	G	11: 97,056,928 (GRCm39)	M647T	probably damaging	Het
Mfge8	A	G	7: 78,786,530 (GRCm39)	S290P	probably damaging	Het
Negr1	C	T	3: 156,851,854 (GRCm39)	P219S	probably damaging	Het
Nkx2-6	T	C	14: 69,409,326 (GRCm39)	S26P	probably benign	Het
Or10a49	C	T	7: 108,467,482 (GRCm39)	R293K	possibly damaging	Het
Pdzd9	A	C	7: 120,259,494 (GRCm39)	Y165D	possibly damaging	Het
Pik3ca	C	T	3: 32,516,733 (GRCm39)	A987V	probably damaging	Het
Pomp	T	A	5: 147,797,491 (GRCm39)		probably benign	Het
Rbm33	A	G	5: 28,615,707 (GRCm39)	T17A	probably damaging	Het
Skic2	T	C	17: 35,058,664 (GRCm39)		probably benign	Het
Slc4a4	G	A	5: 89,277,532 (GRCm39)	A334T	probably benign	Het
Tecta	A	G	9: 42,256,916 (GRCm39)	F1587L	probably damaging	Het
Tex29	C	A	8: 11,894,231 (GRCm39)	Y46*	probably null	Het
Tgm5	A	G	2: 120,883,028 (GRCm39)	S410P	possibly damaging	Het
Tmtc2	A	G	10: 105,107,372 (GRCm39)	Y714H	possibly damaging	Het
Tubgcp6	C	T	15: 88,994,258 (GRCm39)	R468Q	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
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
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

2013-10-07