Mutagenetix > Incidental Mutation

Incidental Mutation 'R7718:Masp2'

595022

Institutional Source

Beutler Lab

Gene Symbol

Masp2

Ensembl Gene

ENSMUSG00000028979

Gene Name

MBL associated serine protease 2

Synonyms

MAp19, MASP-2

MMRRC Submission

045775-MU

Accession Numbers

Essential gene?

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

Stock #

R7718 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148687011-148699956 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 148687204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 29 (R29C)

Ref Sequence

ENSEMBL: ENSMUSP00000049729 (fasta)

Gene Model

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

AlphaFold

Q91WP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000052060
AA Change: R29C

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

SMART Domains

Protein: ENSMUSP00000049729
Gene: ENSMUSG00000028979
AA Change: R29C

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: R29C

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

SMART Domains

Protein: ENSMUSP00000101326
Gene: ENSMUSG00000028979
AA Change: R29C

Domain	Start	End	E-Value	Type
CUB	18	137	4.71e-30	SMART
EGF_CA	138	181	4.32e-10	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (77/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	A	T	5: 138,646,122 (GRCm39)	H669L	possibly damaging	Het
Abcb1a	A	T	5: 8,765,788 (GRCm39)	N700I	probably damaging	Het
Abcc6	T	C	7: 45,626,816 (GRCm39)	K1414E	possibly damaging	Het
Adcy5	T	C	16: 35,100,785 (GRCm39)	V779A	probably benign	Het
Agap2	A	G	10: 126,915,734 (GRCm39)	S82G	possibly damaging	Het
Aldh1l1	A	G	6: 90,575,305 (GRCm39)	N864S	probably damaging	Het
Ang2	A	T	14: 51,433,217 (GRCm39)	V55E	probably benign	Het
Ank2	A	G	3: 126,758,662 (GRCm39)	M179T	possibly damaging	Het
Atrnl1	T	A	19: 57,728,615 (GRCm39)	C1090*	probably null	Het
Atxn1l	A	G	8: 110,459,866 (GRCm39)	L132P	probably damaging	Het
Bptf	A	G	11: 106,972,282 (GRCm39)	V862A	possibly damaging	Het
Capn11	C	A	17: 45,954,707 (GRCm39)	K143N	probably damaging	Het
Card6	A	G	15: 5,129,269 (GRCm39)	V709A	possibly damaging	Het
Cavin4	C	T	4: 48,671,984 (GRCm39)	A143V	probably benign	Het
Cntn5	A	G	9: 9,984,133 (GRCm39)	I160T	probably benign	Het
Cyp2c40	T	A	19: 39,755,782 (GRCm39)	N511Y	probably benign	Het
Dsc2	A	T	18: 20,174,835 (GRCm39)	I480N	probably damaging	Het
Elf2	G	T	3: 51,173,385 (GRCm39)		probably benign	Het
Enoph1	T	C	5: 100,210,019 (GRCm39)	V133A	possibly damaging	Het
Ezh2	A	T	6: 47,531,125 (GRCm39)	D186E	probably benign	Het
Fcgbpl1	T	C	7: 27,846,626 (GRCm39)	F1106S	probably damaging	Het
Gfra1	T	C	19: 58,441,889 (GRCm39)	D14G	possibly damaging	Het
Gmip	C	T	8: 70,270,383 (GRCm39)	R698W	probably damaging	Het
Grk4	A	G	5: 34,852,160 (GRCm39)	N135D	probably benign	Het
Hspb6	A	G	7: 30,253,772 (GRCm39)	D95G	probably benign	Het
Htatip2	T	G	7: 49,420,632 (GRCm39)	H159Q	possibly damaging	Het
Igfn1	T	C	1: 135,896,774 (GRCm39)	E1264G	probably benign	Het
Insyn2b	T	C	11: 34,352,539 (GRCm39)	S194P	probably benign	Het
Katnb1	T	A	8: 95,821,836 (GRCm39)	V223E	possibly damaging	Het
Klra6	AGG	AG	6: 129,990,315 (GRCm39)		probably null	Het
Mcm3	A	T	1: 20,887,498 (GRCm39)	C123*	probably null	Het
Mdn1	T	C	4: 32,718,420 (GRCm39)	V2225A	probably damaging	Het
Me1	A	G	9: 86,561,953 (GRCm39)	L44S	probably damaging	Het
Mlxip	A	G	5: 123,583,577 (GRCm39)	N380S	probably benign	Het
Muc21	T	C	17: 35,933,728 (GRCm39)	T153A	unknown	Het
Myh14	C	T	7: 44,310,464 (GRCm39)	V140I	probably damaging	Het
Myocd	A	T	11: 65,109,452 (GRCm39)	D106E	probably damaging	Het
Oat	T	C	7: 132,159,988 (GRCm39)	I411V	probably benign	Het
Or2d2	A	T	7: 106,727,925 (GRCm39)	V225D	probably damaging	Het
Or5p59	T	C	7: 107,702,855 (GRCm39)	V113A	probably benign	Het
Or8k38	A	G	2: 86,488,373 (GRCm39)	V143A	probably benign	Het
Orc2	A	T	1: 58,519,476 (GRCm39)	H246Q	possibly damaging	Het
Pank4	A	G	4: 155,059,100 (GRCm39)	E411G	probably damaging	Het
Patl2	A	T	2: 121,957,255 (GRCm39)		probably null	Het
Pcdhb15	A	G	18: 37,608,216 (GRCm39)	N483D	probably damaging	Het
Pcdhb20	A	G	18: 37,638,704 (GRCm39)	D410G	probably damaging	Het
Pdcl2	A	G	5: 76,465,846 (GRCm39)	C125R	probably damaging	Het
Peli3	C	G	19: 4,984,584 (GRCm39)		probably null	Het
Pkd1	A	G	17: 24,805,474 (GRCm39)	D3313G	probably benign	Het
Plec	A	C	15: 76,061,639 (GRCm39)	M2766R	probably damaging	Het
Ppargc1a	C	T	5: 51,655,504 (GRCm39)	V99M	probably damaging	Het
Prr35	T	A	17: 26,165,998 (GRCm39)	R430*	probably null	Het
Psg19	G	A	7: 18,526,368 (GRCm39)	A374V	probably benign	Het
Psmd7	A	T	8: 108,313,261 (GRCm39)	F54L	possibly damaging	Het
Ptbp2	C	T	3: 119,514,637 (GRCm39)	G397R	probably null	Het
Ranbp3	A	G	17: 57,003,718 (GRCm39)	D39G	probably damaging	Het
Rcor3	T	C	1: 191,786,021 (GRCm39)	T406A	probably benign	Het
Rhbdl2	T	A	4: 123,718,712 (GRCm39)	I222K	probably damaging	Het
Ripk2	T	C	4: 16,151,968 (GRCm39)	N197S	possibly damaging	Het
Rpia	A	T	6: 70,743,602 (GRCm39)	M283K	probably damaging	Het
Rps6kc1	T	C	1: 190,604,022 (GRCm39)	D200G	probably benign	Het
Sipa1l1	A	T	12: 82,389,271 (GRCm39)	K499M	probably damaging	Het
Slc5a4b	A	G	10: 75,906,407 (GRCm39)	L404P	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Spmip4	G	A	6: 50,566,078 (GRCm39)		probably null	Het
St7	A	C	6: 17,854,998 (GRCm39)	T312P	probably damaging	Het
Strbp	T	C	2: 37,515,294 (GRCm39)	E244G	probably damaging	Het
Tbc1d8	T	G	1: 39,416,061 (GRCm39)	T871P	probably benign	Het
Tcp1	T	A	17: 13,141,049 (GRCm39)	I286N	probably damaging	Het
Tead3	C	A	17: 28,552,491 (GRCm39)	V327F	probably damaging	Het
Tmem132c	A	T	5: 127,640,504 (GRCm39)	T892S	probably benign	Het
Trmt2a	T	C	16: 18,068,487 (GRCm39)	S65P	probably benign	Het
Ubp1	A	G	9: 113,802,597 (GRCm39)	N479S	possibly damaging	Het
Ubtfl1	A	T	9: 18,320,527 (GRCm39)	L18F	possibly damaging	Het
Uevld	T	G	7: 46,587,804 (GRCm39)	M299L	probably benign	Het
Unc13b	T	A	4: 43,173,854 (GRCm39)	Y1561N	unknown	Het
Ylpm1	A	G	12: 85,075,896 (GRCm39)	K874E	probably damaging	Het
Zbtb37	G	A	1: 160,859,802 (GRCm39)	R168W	possibly 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
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
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'- TGCTGTACCTCATAAGAAGGCC -3'

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

Posted On

2019-11-12