Mutagenetix > Incidental Mutation

Incidental Mutation 'R5512:Masp2'

440079

Institutional Source

Beutler Lab

Gene Symbol

Masp2

Ensembl Gene

ENSMUSG00000028979

Gene Name

mannan-binding lectin serine peptidase 2

Synonyms

MASP-2, MAp19

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R5512 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

148602554-148615499 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 148614069 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 536 (I536F)

Ref Sequence

ENSEMBL: ENSMUSP00000049729 (fasta)

Gene Model

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

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: I536F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049729
Gene: ENSMUSG00000028979
AA Change: I536F

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

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: ENSMUST00000154898

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

noncoding transcript
Transcript: ENSMUST00000186317

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187937

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189041

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188380

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: ENSMUST00000188488

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: ENSMUST00000190630

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: ENSMUST00000187939

SMART Domains

Protein: ENSMUSP00000140928
Gene: ENSMUSG00000041459

Domain	Start	End	E-Value	Type
RRM	18	84	3e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186711

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: ENSMUST00000191378

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: ENSMUST00000190287

Predicted Effect

probably benign
Transcript: ENSMUST00000185824

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 131,350,660	V364A	possibly damaging	Het
Abca8b	C	A	11: 109,977,813	G175V	probably damaging	Het
Adgre5	T	C	8: 83,729,086	N198D	probably benign	Het
Adgrf4	G	T	17: 42,667,285	T389K	probably benign	Het
Apc	T	A	18: 34,310,909		probably benign	Het
Appl2	T	A	10: 83,605,818	I524F	probably damaging	Het
Arhgef37	G	A	18: 61,499,774	Q531*	probably null	Het
Atp7b	T	C	8: 22,012,739	T694A	probably benign	Het
Cacna1g	T	A	11: 94,444,142	I780F	probably damaging	Het
Calcoco2	T	C	11: 96,103,336	K95E	probably damaging	Het
Cars	T	C	7: 143,570,133	D388G	possibly damaging	Het
Ccdc150	A	C	1: 54,354,647	E690A	probably damaging	Het
Cdc73	G	T	1: 143,702,616	D3E	probably damaging	Het
Cdh23	C	A	10: 60,534,386		probably null	Het
Cep170b	T	C	12: 112,733,485	S143P	possibly damaging	Het
Cherp	T	C	8: 72,463,266	I607V	possibly damaging	Het
CN725425	T	A	15: 91,240,756	H166Q	probably benign	Het
Dcaf6	A	G	1: 165,399,835	V241A	possibly damaging	Het
Dot1l	C	T	10: 80,788,991	P881S	possibly damaging	Het
Dsg1c	A	T	18: 20,272,511	N327I	probably damaging	Het
Fam208b	A	T	13: 3,595,517	Y111N	probably damaging	Het
Fbxw7	G	A	3: 84,954,909	R182H	probably damaging	Het
Fkbp1b	A	T	12: 4,838,183	V24E	probably benign	Het
Fut11	T	C	14: 20,696,001	S304P	probably damaging	Het
Ggt1	C	T	10: 75,584,884	T361I	probably damaging	Het
Gimap7	G	T	6: 48,723,596	A39S	probably benign	Het
Gm12689	T	C	4: 99,296,165	I85T	unknown	Het
Gm17541	G	T	12: 4,689,452		probably benign	Het
Gmip	T	A	8: 69,817,890	V750E	probably benign	Het
Gna14	A	G	19: 16,608,128	E290G	probably benign	Het
Gpnmb	T	C	6: 49,045,464	V176A	possibly damaging	Het
Hhla1	T	C	15: 65,924,016	K447R	probably benign	Het
Hsd3b1	A	G	3: 98,853,205	Y157H	probably benign	Het
Iqgap2	G	A	13: 95,675,376	Q706*	probably null	Het
Krt222	A	C	11: 99,234,955	S283R	probably damaging	Het
Ldb2	G	A	5: 44,480,244	R241W	probably damaging	Het
Lrrc8d	C	G	5: 105,812,784	F353L	probably damaging	Het
Lrrc8d	G	A	5: 105,812,785	E354K	probably benign	Het
Mptx1	A	G	1: 174,332,749	D207G	probably benign	Het
Mtpn	C	T	6: 35,512,290	D100N	probably benign	Het
Napsa	A	G	7: 44,572,616	M1V	probably null	Het
Ncam1	A	T	9: 49,509,699		probably null	Het
Nckap5	G	A	1: 126,027,744	P425L	possibly damaging	Het
Nol8	A	G	13: 49,676,787	S1116G	probably benign	Het
Nrde2	G	T	12: 100,142,250	Q361K	probably benign	Het
Nudt13	G	A	14: 20,307,732	G133D	probably damaging	Het
Ofcc1	G	T	13: 40,206,810	Q248K	probably benign	Het
Olfm4	A	G	14: 80,021,347	D345G	probably benign	Het
Olfr1287	G	A	2: 111,449,754	V205I	probably benign	Het
Olfr720	C	A	14: 14,175,633	G150C	probably damaging	Het
Osbpl3	T	G	6: 50,309,360	K659N	probably damaging	Het
Pdk2	G	A	11: 95,039,466	T48M	probably damaging	Het
Phf11a	A	T	14: 59,287,550	D68E	probably benign	Het
Prrxl1	A	G	14: 32,600,044	H5R	probably damaging	Het
Purb	A	G	11: 6,475,702	V62A	probably damaging	Het
Rabep2	A	G	7: 126,438,799	T248A	possibly damaging	Het
Rps19bp1	CCTTCTTCTTCTTCTTCTTCTT	CCTTCTTCTTCTTCTTCTT	15: 80,261,049		probably benign	Het
Rtl1	C	T	12: 109,591,371	E1345K	unknown	Het
Sema3e	G	A	5: 14,230,180	A358T	probably damaging	Het
Slc29a2	A	G	19: 5,026,398	I105V	probably benign	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Slc6a5	G	A	7: 49,941,825	V513I	probably damaging	Het
Slco4a1	T	A	2: 180,474,114	F681Y	possibly damaging	Het
Sp1	A	G	15: 102,431,010	N775S	possibly damaging	Het
Sspo	T	A	6: 48,455,671	V827D	probably damaging	Het
Taar7f	C	T	10: 24,050,423	T305M	possibly damaging	Het
Tars2	A	T	3: 95,750,416	C238S	probably damaging	Het
Tnks1bp1	C	A	2: 85,062,834	P373Q	probably benign	Het
Tnpo3	A	G	6: 29,575,046	L373P	probably damaging	Het
Unc45b	A	C	11: 82,915,072	D135A	possibly damaging	Het
Vmn1r235	A	T	17: 21,261,415	M1L	probably benign	Het
Vmn2r66	T	C	7: 85,007,941	I85M	probably damaging	Het
Vmn2r80	T	G	10: 79,168,232	L93W	probably benign	Het
Vwf	G	T	6: 125,673,887		probably benign	Het
Ythdf3	A	G	3: 16,183,922	R9G	probably damaging	Het
Zfp229	A	G	17: 21,745,036		probably null	Het
Zfp958	A	C	8: 4,625,838		probably null	Het

Other mutations in Masp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Masp2	APN	4	148602729	missense	probably benign	0.05
IGL01284:Masp2	APN	4	148614007	missense	probably damaging	1.00
IGL02040:Masp2	APN	4	148603813	missense	probably damaging	1.00
IGL02243:Masp2	APN	4	148603068	missense	probably benign	0.32
IGL02490:Masp2	APN	4	148607943	missense	possibly damaging	0.91
IGL02517:Masp2	APN	4	148614020	missense	probably damaging	1.00
IGL02997:Masp2	APN	4	148603175	splice site	probably benign
R0408:Masp2	UTSW	4	148606039	missense	probably benign
R1517:Masp2	UTSW	4	148612106	missense	possibly damaging	0.74
R1630:Masp2	UTSW	4	148614033	missense	probably benign	0.07
R1634:Masp2	UTSW	4	148614355	missense	probably damaging	1.00
R1873:Masp2	UTSW	4	148614495	missense	probably damaging	1.00
R2208:Masp2	UTSW	4	148614415	missense	probably damaging	1.00
R2283:Masp2	UTSW	4	148606068	missense	probably benign	0.00
R2876:Masp2	UTSW	4	148608001	missense	probably benign
R3921:Masp2	UTSW	4	148605731	missense	possibly damaging	0.95
R4586:Masp2	UTSW	4	148613901	missense	probably damaging	1.00
R4753:Masp2	UTSW	4	148612151	missense	probably benign	0.00
R4877:Masp2	UTSW	4	148602871	missense	probably benign	0.00
R5169:Masp2	UTSW	4	148606114	missense	probably damaging	0.96
R6161:Masp2	UTSW	4	148614012	missense	possibly damaging	0.88
R6291:Masp2	UTSW	4	148602753	missense	probably damaging	0.99
R7039:Masp2	UTSW	4	148602586	start codon destroyed	probably benign	0.03
R7164:Masp2	UTSW	4	148610115	critical splice acceptor site	probably null
R7183:Masp2	UTSW	4	148612157	missense	probably benign	0.02
R7417:Masp2	UTSW	4	148605721	missense	probably benign	0.02
R7718:Masp2	UTSW	4	148602747	missense	probably damaging	1.00
R7748:Masp2	UTSW	4	148605706	missense	probably benign	0.00
R7852:Masp2	UTSW	4	148602732	missense	probably benign	0.00
R7986:Masp2	UTSW	4	148602826	missense	probably damaging	1.00
R8078:Masp2	UTSW	4	148613778	missense	probably benign	0.01
R8203:Masp2	UTSW	4	148612142	missense	probably benign	0.00
R8257:Masp2	UTSW	4	148603040	missense	possibly damaging	0.82
R8465:Masp2	UTSW	4	148612059	missense	possibly damaging	0.79
R9324:Masp2	UTSW	4	148608028	missense	possibly damaging	0.65
R9350:Masp2	UTSW	4	148607939	critical splice acceptor site	probably null
R9706:Masp2	UTSW	4	148612140	missense	probably benign	0.03
X0025:Masp2	UTSW	4	148602723	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGGTCAAACTACAGCAGCAG -3'
(R):5'- TGGTCAGCAATTGGTATGTCC -3'

Sequencing Primer
(F):5'- TGACAATTGGGTCCTAACAGCCG -3'
(R):5'- GTCCACAAACATTAGGTTTCTAGC -3'

Posted On

2016-11-08