Mutagenetix > Incidental Mutation

Incidental Mutation 'R6291:Masp2'

508410

Institutional Source

Beutler Lab

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 #

R6291 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148687011-148699956 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 148687210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 31 (V31M)

Ref Sequence

ENSEMBL: ENSMUSP00000101326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052060] [ENSMUST00000105701]

AlphaFold

Q91WP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000052060
AA Change: V31M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049729
Gene: ENSMUSG00000028979
AA Change: V31M

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 damaging
Transcript: ENSMUST00000105701
AA Change: V31M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101326
Gene: ENSMUSG00000028979
AA Change: V31M

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (86/88)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 87,293,173 (GRCm39)	G5D	possibly damaging	Het
Adamts9	T	C	6: 92,867,101 (GRCm39)	K95R	probably damaging	Het
Adap1	G	T	5: 139,259,246 (GRCm39)	L314M	probably benign	Het
Alkbh1	T	A	12: 87,475,864 (GRCm39)	E306V	possibly damaging	Het
Alpk2	T	A	18: 65,438,972 (GRCm39)	D1274V	possibly damaging	Het
Ankrd31	A	C	13: 97,014,746 (GRCm39)	K1188N	possibly damaging	Het
Aox1	T	A	1: 58,369,965 (GRCm39)	M759K	probably damaging	Het
Atp13a3	T	A	16: 30,155,061 (GRCm39)	D961V	probably damaging	Het
Bcl11a	G	A	11: 24,108,321 (GRCm39)	G100R	probably damaging	Het
Bpifc	G	A	10: 85,812,122 (GRCm39)	A362V	probably damaging	Het
Btaf1	C	T	19: 36,950,408 (GRCm39)	T546I	probably benign	Het
Casd1	C	A	6: 4,619,834 (GRCm39)	P193Q	probably damaging	Het
Cdhr1	T	C	14: 36,811,422 (GRCm39)	T230A	probably benign	Het
Celsr3	T	G	9: 108,706,041 (GRCm39)	D841E	probably damaging	Het
Cenpj	T	C	14: 56,789,433 (GRCm39)	D872G	probably benign	Het
Cep95	G	T	11: 106,706,422 (GRCm39)	A559S	probably damaging	Het
Chpt1	A	T	10: 88,311,306 (GRCm39)	C62*	probably null	Het
Cspg4b	T	A	13: 113,456,981 (GRCm39)	I1009N	possibly damaging	Het
Cspp1	A	G	1: 10,134,559 (GRCm39)	K103R	probably damaging	Het
Ctla4	T	C	1: 60,951,837 (GRCm39)	V122A	probably benign	Het
Cyp3a11	A	G	5: 145,799,237 (GRCm39)	F317L	possibly damaging	Het
Daam1	T	C	12: 71,993,025 (GRCm39)	L338P	unknown	Het
Dcc	T	A	18: 71,815,238 (GRCm39)	I379L	probably benign	Het
Dennd2c	C	A	3: 103,038,925 (GRCm39)	C24*	probably null	Het
Dnai3	G	A	3: 145,772,648 (GRCm39)	S466L	probably benign	Het
Dnajc12	A	G	10: 63,233,053 (GRCm39)	I65V	probably benign	Het
Dock3	T	A	9: 106,785,631 (GRCm39)	M208L	probably benign	Het
Dsg1b	T	C	18: 20,537,848 (GRCm39)	I588T	possibly damaging	Het
Eif1b	T	C	9: 120,323,206 (GRCm39)	L22S	probably benign	Het
Ep300	T	A	15: 81,532,708 (GRCm39)	S1649T	unknown	Het
Eps15	CAAA	CAA	4: 109,162,900 (GRCm39)		probably null	Het
Ercc6	A	T	14: 32,291,943 (GRCm39)	E1102D	probably benign	Het
Gsdmc3	T	C	15: 63,732,090 (GRCm39)	N312S	probably benign	Het
Guca2b	A	T	4: 119,514,890 (GRCm39)	L57Q	probably damaging	Het
Heatr5b	G	T	17: 79,069,526 (GRCm39)	H1740Q	probably benign	Het
Hecw1	G	A	13: 14,697,592 (GRCm39)		probably benign	Het
Icam5	A	G	9: 20,948,217 (GRCm39)	H675R	probably benign	Het
Il18rap	T	C	1: 40,564,049 (GRCm39)	F56L	probably benign	Het
Iqgap3	T	A	3: 87,997,037 (GRCm39)		probably null	Het
Itsn1	T	C	16: 91,664,984 (GRCm39)		probably benign	Het
Jakmip3	A	T	7: 138,622,585 (GRCm39)	D315V	probably damaging	Het
Kif24	A	G	4: 41,413,959 (GRCm39)	Y328H	probably damaging	Het
Kmt2a	A	T	9: 44,744,171 (GRCm39)		probably benign	Het
Kng1	A	G	16: 22,898,475 (GRCm39)	E625G	probably damaging	Het
Man2b1	C	T	8: 85,823,675 (GRCm39)	T973I	probably benign	Het
Myo18b	C	T	5: 113,013,601 (GRCm39)	R785H	possibly damaging	Het
Naa15	G	A	3: 51,350,212 (GRCm39)	G103D	probably damaging	Het
Or4f15	A	G	2: 111,813,969 (GRCm39)	V150A	probably benign	Het
Or5m11b	A	G	2: 85,805,926 (GRCm39)	Y113C	probably damaging	Het
Or7e177	T	A	9: 20,211,899 (GRCm39)	D134E	probably damaging	Het
Papln	A	G	12: 83,829,789 (GRCm39)	N970S	probably benign	Het
Pick1	T	A	15: 79,135,928 (GRCm39)		probably null	Het
Pigr	A	C	1: 130,769,498 (GRCm39)	D103A	probably benign	Het
Plekhf1	A	C	7: 37,921,029 (GRCm39)	F180V	possibly damaging	Het
Plxnc1	A	G	10: 94,669,504 (GRCm39)		probably null	Het
Polr3f	A	G	2: 144,376,308 (GRCm39)	I136V	probably damaging	Het
Ppp2r2c	T	C	5: 37,097,468 (GRCm39)	M218T	possibly damaging	Het
Prox2	C	T	12: 85,136,420 (GRCm39)	V466I	probably damaging	Het
Prrc2a	G	A	17: 35,373,909 (GRCm39)	L1479F	probably damaging	Het
Rbm24	T	A	13: 46,575,313 (GRCm39)		probably null	Het
Rcc1l	A	T	5: 134,195,560 (GRCm39)		probably null	Het
Ripk4	A	C	16: 97,556,323 (GRCm39)	L140R	probably damaging	Het
Rmnd1	A	T	10: 4,372,135 (GRCm39)	L188Q	probably damaging	Het
Rnf170	C	T	8: 26,630,992 (GRCm39)	P249S	probably damaging	Het
Rras	A	G	7: 44,667,595 (GRCm39)		probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Scn7a	T	A	2: 66,530,458 (GRCm39)	D629V	probably damaging	Het
Sipa1l3	A	G	7: 29,087,558 (GRCm39)	S556P	probably damaging	Het
Smarca2	C	T	19: 26,608,292 (GRCm39)	A117V	probably damaging	Het
Snca	C	T	6: 60,792,702 (GRCm39)	A69T	probably damaging	Het
Snx2	T	C	18: 53,342,737 (GRCm39)		probably null	Het
Spp1	T	A	5: 104,587,242 (GRCm39)	S109T	possibly damaging	Het
Stoml3	T	C	3: 53,414,937 (GRCm39)	L243P	probably damaging	Het
Susd2	A	G	10: 75,473,408 (GRCm39)	F789L	possibly damaging	Het
Sycp1	A	G	3: 102,816,277 (GRCm39)	M419T	probably damaging	Het
Thoc1	T	C	18: 9,993,330 (GRCm39)	V563A	probably benign	Het
Tmprss11g	T	C	5: 86,635,281 (GRCm39)	I398V	probably damaging	Het
Tox3	A	G	8: 90,975,566 (GRCm39)	L355P	probably damaging	Het
Tpp1	A	G	7: 105,396,223 (GRCm39)	I492T	probably benign	Het
Trim21	A	T	7: 102,213,289 (GRCm39)	L3Q	probably damaging	Het
Ttn	A	C	2: 76,738,080 (GRCm39)	V4153G	probably benign	Het
Ttn	T	C	2: 76,744,638 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,560,756 (GRCm39)	E828G	possibly damaging	Het
Vav3	A	G	3: 109,416,170 (GRCm39)	N263S	possibly damaging	Het
Vmn1r183	A	C	7: 23,754,982 (GRCm39)	T262P	possibly damaging	Het
Vmn2r67	G	A	7: 84,799,142 (GRCm39)	P522S	possibly damaging	Het
Vps35	T	A	8: 86,026,086 (GRCm39)	M1L	probably benign	Het
Xpo7	A	T	14: 70,942,130 (GRCm39)	L79*	probably null	Het
Zc3h14	G	A	12: 98,726,087 (GRCm39)	R324H	probably damaging	Het
Zfp330	T	C	8: 83,499,613 (GRCm39)	T6A	probably damaging	Het
Zfp948	T	A	17: 21,807,286 (GRCm39)	H159Q	unknown	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
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
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'- TCAAAGGTGATAGGCGCTGG -3'
(R):5'- TGCTGTACCTCATAAGAAGGC -3'

Sequencing Primer
(F):5'- TGGACCTGCAGAGCTAGGTG -3'
(R):5'- TGTACCTCATAAGAAGGCCCCAG -3'

Posted On

2018-03-15