Mutagenetix > Incidental Mutation

Incidental Mutation 'R4877:Masp2'

374980

Institutional Source

Beutler Lab

Gene Symbol

Masp2

Ensembl Gene

ENSMUSG00000028979

Gene Name

MBL associated serine protease 2

Synonyms

MAp19, MASP-2

MMRRC Submission

042486-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R4877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

148687011-148699956 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 148687328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 70 (Y70F)

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: Y70F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000049729
Gene: ENSMUSG00000028979
AA Change: Y70F

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: ENSMUST00000105701
AA Change: Y70F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000101326
Gene: ENSMUSG00000028979
AA Change: Y70F

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

100% (76/76)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,258,421 (GRCm39)	Y475H	probably damaging	Het
Adamts12	G	T	15: 11,327,787 (GRCm39)	G1388V	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Arhgap26	T	C	18: 39,429,982 (GRCm39)		probably null	Het
Atp7b	T	A	8: 22,518,617 (GRCm39)	I74F	probably damaging	Het
Bod1l	A	G	5: 41,977,337 (GRCm39)	Y1326H	probably benign	Het
Card11	T	C	5: 140,871,632 (GRCm39)	S690G	probably damaging	Het
Cbx3	A	G	6: 51,459,540 (GRCm39)	E169G	possibly damaging	Het
Cd28	A	T	1: 60,808,861 (GRCm39)	M192L	possibly damaging	Het
Chd6	T	C	2: 160,871,219 (GRCm39)		probably benign	Het
Cyp2c69	C	T	19: 39,866,056 (GRCm39)	C179Y	probably damaging	Het
Cyp7b1	A	T	3: 18,151,457 (GRCm39)	V252E	probably damaging	Het
Dcp2	G	T	18: 44,550,659 (GRCm39)	G378C	probably benign	Het
Dip2b	A	T	15: 100,058,410 (GRCm39)	I196L	possibly damaging	Het
Erbin	G	A	13: 103,987,346 (GRCm39)	P405S	probably damaging	Het
Etv1	A	G	12: 38,881,292 (GRCm39)		probably null	Het
F830104G03Rik	T	G	3: 56,797,917 (GRCm39)	K33T	unknown	Het
Fbln2	C	A	6: 91,210,477 (GRCm39)	H140Q	probably damaging	Het
Fxr1	A	G	3: 34,101,847 (GRCm39)	T109A	probably damaging	Het
Gm10110	T	C	14: 90,134,785 (GRCm39)		noncoding transcript	Het
Gm9949	C	T	18: 62,317,140 (GRCm39)		probably benign	Het
Grin2d	A	G	7: 45,504,039 (GRCm39)	L604P	probably damaging	Het
Gstcd	A	T	3: 132,711,314 (GRCm39)		probably benign	Het
Ifna16	A	G	4: 88,594,681 (GRCm39)	V138A	probably benign	Het
Itpr2	T	A	6: 146,226,703 (GRCm39)	N1314I	probably damaging	Het
Kitl	T	C	10: 99,916,728 (GRCm39)	V177A	probably damaging	Het
L3mbtl1	A	T	2: 162,790,488 (GRCm39)	Q185L	probably damaging	Het
Lhx9	T	A	1: 138,766,092 (GRCm39)	N232I	probably benign	Het
Lnx1	T	C	5: 74,788,784 (GRCm39)	R111G	probably benign	Het
Lrrc41	A	G	4: 115,936,602 (GRCm39)	I72M	probably damaging	Het
Lrriq1	T	A	10: 103,069,899 (GRCm39)	D39V	possibly damaging	Het
Lyrm7	A	G	11: 54,731,936 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,857,734 (GRCm39)	Y2508N	probably damaging	Het
Mc4r	T	C	18: 66,992,409 (GRCm39)	I235V	probably benign	Het
Med12l	G	A	3: 59,152,214 (GRCm39)	V1000M	probably damaging	Het
Morc2b	T	C	17: 33,357,712 (GRCm39)	H20R	probably benign	Het
Ms4a1	A	T	19: 11,231,857 (GRCm39)	S173T	probably damaging	Het
Myh13	A	C	11: 67,228,477 (GRCm39)	D339A	probably damaging	Het
Nars1	A	T	18: 64,633,643 (GRCm39)	Y542*	probably null	Het
Nectin2	G	A	7: 19,451,645 (GRCm39)	T463I	possibly damaging	Het
Nrg4	A	G	9: 55,166,679 (GRCm39)	F64L	probably benign	Het
Nrxn1	T	A	17: 91,395,605 (GRCm39)	I184F	probably benign	Het
Nxph2	C	T	2: 23,289,846 (GRCm39)	P66L	probably benign	Het
Or10ag2	C	T	2: 87,248,907 (GRCm39)	Q170*	probably null	Het
Or2v1	C	A	11: 49,025,608 (GRCm39)	F196L	probably damaging	Het
Pard3	A	T	8: 128,115,018 (GRCm39)	T579S	probably damaging	Het
Patj	A	G	4: 98,457,295 (GRCm39)	I48V	possibly damaging	Het
Paxbp1	T	C	16: 90,841,199 (GRCm39)		probably benign	Het
Pou2f3	A	T	9: 43,050,618 (GRCm39)	N235K	possibly damaging	Het
Ppp2r2c	A	G	5: 37,026,214 (GRCm39)	D17G	probably damaging	Het
Rgs8	A	G	1: 153,568,633 (GRCm39)		probably benign	Het
Rnd3	A	G	2: 51,038,762 (GRCm39)	V42A	probably damaging	Het
Rp1l1	A	G	14: 64,263,620 (GRCm39)	R247G	probably benign	Het
Sec31b	A	T	19: 44,524,172 (GRCm39)	V156D	probably damaging	Het
Slc22a2	T	A	17: 12,833,702 (GRCm39)	Y461N	possibly damaging	Het
Spag6l	T	C	16: 16,599,622 (GRCm39)	K280R	possibly damaging	Het
Spata31d1a	A	G	13: 59,850,337 (GRCm39)	L597P	probably damaging	Het
Srr	G	T	11: 74,798,606 (GRCm39)		probably benign	Het
Sry	C	G	Y: 2,662,864 (GRCm39)	Q265H	unknown	Het
Tgif1	A	C	17: 71,156,700 (GRCm39)		probably null	Het
Tle3	A	T	9: 61,280,781 (GRCm39)		probably benign	Het
Tubgcp4	A	G	2: 121,020,343 (GRCm39)	T439A	probably benign	Het
Twist1	C	T	12: 34,008,350 (GRCm39)	T125M	probably damaging	Het
Unc13a	T	A	8: 72,111,260 (GRCm39)	D317V	possibly damaging	Het
Vmn1r227	T	A	17: 20,955,407 (GRCm39)		noncoding transcript	Het
Vps72	G	T	3: 95,025,498 (GRCm39)		probably benign	Het
Zfp184	T	C	13: 22,144,498 (GRCm39)	S735P	possibly damaging	Het
Zfp42	A	T	8: 43,748,725 (GRCm39)	C259S	possibly damaging	Het
Zmiz2	A	G	11: 6,353,251 (GRCm39)	H678R	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
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
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
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'- AGGCTACTCATCTTCCTGGG -3'
(R):5'- AAGGTGTCATTGCCAGGTG -3'

Sequencing Primer
(F):5'- CATCTTCCTGGGTCTGCTGTG -3'
(R):5'- ATTGCCAGGTGCCTGCTC -3'

Posted On

2016-03-17