Mutagenetix > Incidental Mutation

Incidental Mutation 'R5169:Masp2'

397435

Institutional Source

Beutler Lab

Gene Symbol

Masp2

Ensembl Gene

ENSMUSG00000028979

Gene Name

MBL associated serine protease 2

Synonyms

MAp19, MASP-2

MMRRC Submission

042749-MU

Accession Numbers

Essential gene?

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

Stock #

R5169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

148687011-148699956 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148690571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 276 (I276T)

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: I276T

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000049729
Gene: ENSMUSG00000028979
AA Change: I276T

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

SMART Domains

Protein: ENSMUSP00000101326
Gene: ENSMUSG00000028979

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,841,552 (GRCm39)	Y964*	probably null	Het
Acsbg2	T	C	17: 57,156,913 (GRCm39)	K375R	probably benign	Het
Ago4	C	A	4: 126,405,520 (GRCm39)	R415L	probably benign	Het
Alpk1	A	T	3: 127,464,750 (GRCm39)	I1176N	probably damaging	Het
Arhgap25	A	T	6: 87,440,252 (GRCm39)	I465N	possibly damaging	Het
Arhgef10	A	G	8: 14,980,051 (GRCm39)	D97G	possibly damaging	Het
Cdc37	T	A	9: 21,052,413 (GRCm39)	M299L	probably benign	Het
Ddx54	C	A	5: 120,761,328 (GRCm39)	H453Q	probably damaging	Het
Dip2b	T	C	15: 100,102,994 (GRCm39)	Y1102H	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dop1a	T	C	9: 86,415,074 (GRCm39)	F1939L	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Ints7	T	C	1: 191,345,202 (GRCm39)	F631L	probably benign	Het
Itih1	A	T	14: 30,655,403 (GRCm39)	Y597*	probably null	Het
Kctd1	T	C	18: 15,195,822 (GRCm39)	E267G	possibly damaging	Het
Lrrc8e	A	G	8: 4,284,329 (GRCm39)	T185A	probably benign	Het
Maco1	T	C	4: 134,555,774 (GRCm39)	H233R	probably benign	Het
Med17	A	T	9: 15,188,900 (GRCm39)	F122I	probably benign	Het
Milr1	C	T	11: 106,645,754 (GRCm39)	R99*	probably null	Het
Mpp4	T	C	1: 59,169,256 (GRCm39)		probably null	Het
Ms4a4d	C	T	19: 11,535,340 (GRCm39)	P213S	possibly damaging	Het
Mtcl1	T	C	17: 66,650,818 (GRCm39)	N1100S	probably benign	Het
Myom3	T	C	4: 135,502,889 (GRCm39)	I322T	probably benign	Het
Nav2	C	T	7: 49,198,231 (GRCm39)	Q1287*	probably null	Het
Nr3c2	A	T	8: 77,635,666 (GRCm39)	N256Y	probably damaging	Het
Nrde2	A	G	12: 100,095,552 (GRCm39)		probably null	Het
Otog	G	T	7: 45,947,572 (GRCm39)	A2242S	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh18	T	C	3: 49,710,415 (GRCm39)	D300G	possibly damaging	Het
Pcdh8	G	A	14: 80,005,095 (GRCm39)	P880S	probably benign	Het
Pcid2	A	G	8: 13,129,632 (GRCm39)		probably null	Het
Phkb	A	G	8: 86,623,120 (GRCm39)	H148R	probably benign	Het
Pik3r4	T	C	9: 105,555,360 (GRCm39)	S1106P	probably benign	Het
Pnpla7	A	T	2: 24,940,321 (GRCm39)	M1067L	probably benign	Het
Pp2d1	C	A	17: 53,814,930 (GRCm39)	G598V	possibly damaging	Het
Ppm1d	C	T	11: 85,223,196 (GRCm39)	A267V	probably damaging	Het
Psg29	C	T	7: 16,945,578 (GRCm39)	P383S	probably damaging	Het
Rc3h2	A	T	2: 37,295,324 (GRCm39)	F231I	probably damaging	Het
Rpl14	T	A	9: 120,401,254 (GRCm39)	D32E	possibly damaging	Het
Rpl32	G	T	6: 115,783,949 (GRCm39)	N92K	probably benign	Het
Rragc	A	G	4: 123,829,457 (GRCm39)	N391S	probably damaging	Het
Ryr3	C	T	2: 112,501,005 (GRCm39)	E3563K	possibly damaging	Het
Sh3rf2	A	G	18: 42,286,126 (GRCm39)	M508V	probably benign	Het
Shoc1	T	A	4: 59,059,618 (GRCm39)	Y1014F	possibly damaging	Het
Slc24a3	G	A	2: 145,482,184 (GRCm39)	C614Y	probably benign	Het
Spata31d1b	T	C	13: 59,864,309 (GRCm39)	S486P	probably damaging	Het
Spi1	A	T	2: 90,945,428 (GRCm39)	K170*	probably null	Het
Srgn	C	A	10: 62,330,866 (GRCm39)	D80Y	probably damaging	Het
St6galnac6	A	G	2: 32,504,857 (GRCm39)	K87R	possibly damaging	Het
Sytl3	A	T	17: 6,982,945 (GRCm39)	K134*	probably null	Het
Szt2	T	C	4: 118,247,027 (GRCm39)	T863A	probably benign	Het
Tcea3	A	T	4: 135,992,181 (GRCm39)		probably null	Het
Tg	T	A	15: 66,550,629 (GRCm39)	L253*	probably null	Het
Timm8a2	T	A	14: 122,272,138 (GRCm39)	S14T	probably benign	Het
Tppp3	G	C	8: 106,194,501 (GRCm39)	N166K	probably benign	Het
Trav2	G	A	14: 52,804,759 (GRCm39)	V4M	probably benign	Het
Trmt5	T	C	12: 73,329,495 (GRCm39)	D221G	probably damaging	Het
Ttc27	T	A	17: 75,054,690 (GRCm39)	L332*	probably null	Het
V1rd19	A	G	7: 23,703,209 (GRCm39)	N225S	possibly damaging	Het
Wdr20rt	A	T	12: 65,274,184 (GRCm39)	Q448L	probably damaging	Het
Zc3h7b	A	T	15: 81,657,515 (GRCm39)	N185I	probably benign	Het
Zmpste24	A	T	4: 120,925,914 (GRCm39)	I351N	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
R4877:Masp2	UTSW	4	148,687,328 (GRCm39)	missense	probably benign	0.00
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'- GGCTTCAGCATTAAGACATCCC -3'
(R):5'- TCACTTGACAGACCACCGTC -3'

Sequencing Primer
(F):5'- AGCATTAAGACATCCCACCTTTTG -3'
(R):5'- TCAAGCAGGGCTCCCTTC -3'

Posted On

2016-07-06