Mutagenetix > Incidental Mutation

Incidental Mutation 'R4405:Mbl2'

327639

Institutional Source

Beutler Lab

Gene Symbol

Mbl2

Ensembl Gene

ENSMUSG00000024863

Gene Name

mannose-binding lectin (protein C) 2

Synonyms

MBL, MBL-C, MBP-C

MMRRC Submission

041134-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4405 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30210342-30217087 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30216916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 243 (S243T)

Ref Sequence

ENSEMBL: ENSMUSP00000025797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025797]

AlphaFold

P41317

Predicted Effect

probably benign
Transcript: ENSMUST00000025797
AA Change: S243T

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000025797
Gene: ENSMUSG00000024863
AA Change: S243T

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Collagen	35	98	1.8e-10	PFAM
CLECT	117	241	3.52e-20	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes mannose and N-acetylglucosamine on many microorganisms, and is capable of activating the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	C	T	8: 95,763,536 (GRCm39)	A279V	probably benign	Het
Aggf1	G	A	13: 95,508,102 (GRCm39)	P88L	probably benign	Het
Asb18	T	C	1: 89,896,411 (GRCm39)	T210A	probably benign	Het
Cd8b1	C	T	6: 71,303,006 (GRCm39)	S27L	possibly damaging	Het
Cfap43	C	T	19: 47,728,236 (GRCm39)	S1507N	possibly damaging	Het
Col12a1	A	T	9: 79,547,247 (GRCm39)		probably null	Het
Col19a1	G	A	1: 24,573,190 (GRCm39)	T194M	unknown	Het
Cpb1	T	A	3: 20,317,733 (GRCm39)	T237S	probably benign	Het
Cubn	G	A	2: 13,470,841 (GRCm39)	T517M	probably damaging	Het
Dnah6	T	C	6: 73,106,274 (GRCm39)	N1769S	probably benign	Het
Dnm1	A	G	2: 32,225,984 (GRCm39)	I365T	probably damaging	Het
E2f5	T	A	3: 14,668,823 (GRCm39)	D238E	probably benign	Het
Etv6	A	G	6: 134,210,497 (GRCm39)	E115G	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Gapvd1	C	T	2: 34,618,747 (GRCm39)	V209I	probably damaging	Het
Gbp8	G	A	5: 105,198,928 (GRCm39)		probably benign	Het
Gprc6a	T	C	10: 51,504,639 (GRCm39)	I68M	probably benign	Het
Grb14	T	C	2: 64,783,966 (GRCm39)	N54D	probably damaging	Het
Gucy2g	A	T	19: 55,226,269 (GRCm39)	F216I	probably benign	Het
Herc2	T	A	7: 55,820,225 (GRCm39)	L2849Q	probably damaging	Het
Hsd17b4	G	T	18: 50,261,381 (GRCm39)		probably benign	Het
Igkv9-129	T	A	6: 67,816,784 (GRCm39)	M3K	probably damaging	Het
Iqcd	A	T	5: 120,740,485 (GRCm39)	E272V	probably damaging	Het
Itih2	A	T	2: 10,111,548 (GRCm39)	Y463*	probably null	Het
Kcna10	G	A	3: 107,102,781 (GRCm39)	E471K	possibly damaging	Het
Klf3	A	T	5: 64,986,347 (GRCm39)	E294V	possibly damaging	Het
Lancl1	A	T	1: 67,060,015 (GRCm39)		probably null	Het
Ldaf1	T	G	7: 119,714,714 (GRCm39)	F68V	probably damaging	Het
Lrig3	T	C	10: 125,846,877 (GRCm39)	F882L	probably benign	Het
Man2c1	A	G	9: 57,046,367 (GRCm39)	N474S	probably damaging	Het
Map4k3	A	G	17: 80,922,444 (GRCm39)		probably null	Het
Mast1	C	A	8: 85,647,520 (GRCm39)	W572C	probably damaging	Het
Mbd4	T	A	6: 115,826,076 (GRCm39)	Q305L	possibly damaging	Het
Mcph1	C	T	8: 18,682,557 (GRCm39)	P565S	probably benign	Het
Mfsd1	G	C	3: 67,507,943 (GRCm39)	V435L	probably benign	Het
Mycbp2	C	T	14: 103,360,881 (GRCm39)	G1183D	probably damaging	Het
Myof	A	G	19: 37,911,426 (GRCm39)	S1502P	probably damaging	Het
Noa1	A	T	5: 77,454,219 (GRCm39)	S474T	probably benign	Het
Nrde2	A	G	12: 100,096,843 (GRCm39)	Y986H	probably benign	Het
Oca2	G	T	7: 56,064,182 (GRCm39)	V726F	possibly damaging	Het
Or2ag13	T	A	7: 106,472,580 (GRCm39)	S291C	probably damaging	Het
Or7a41	A	T	10: 78,871,244 (GRCm39)	M205L	probably benign	Het
Pip5k1a	A	G	3: 94,975,370 (GRCm39)		probably null	Het
Plekhn1	A	T	4: 156,309,730 (GRCm39)		probably null	Het
Sec61a2	T	C	2: 5,887,670 (GRCm39)	D104G	probably benign	Het
Skic3	A	T	13: 76,303,784 (GRCm39)	Y1234F	probably damaging	Het
Slc25a36	T	C	9: 96,967,171 (GRCm39)	T131A	probably benign	Het
Slc5a11	A	T	7: 122,857,700 (GRCm39)	D263V	probably damaging	Het
Sorbs1	T	C	19: 40,384,189 (GRCm39)	I35V	probably benign	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Tbc1d1	T	C	5: 64,331,013 (GRCm39)	V64A	possibly damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vmn1r20	A	G	6: 57,409,042 (GRCm39)	M123V	probably benign	Het
Zwint	T	C	10: 72,492,095 (GRCm39)	L59P	probably damaging	Het

Other mutations in Mbl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Mbl2	APN	19	30,215,794 (GRCm39)	missense	possibly damaging	0.70
R2174:Mbl2	UTSW	19	30,211,412 (GRCm39)	missense	possibly damaging	0.76
R3836:Mbl2	UTSW	19	30,216,914 (GRCm39)	missense	probably damaging	1.00
R6500:Mbl2	UTSW	19	30,216,839 (GRCm39)	missense	possibly damaging	0.80
R7402:Mbl2	UTSW	19	30,216,802 (GRCm39)	missense	possibly damaging	0.73
R7922:Mbl2	UTSW	19	30,216,638 (GRCm39)	missense	probably damaging	1.00
R7981:Mbl2	UTSW	19	30,216,737 (GRCm39)	missense	probably damaging	1.00
R8417:Mbl2	UTSW	19	30,216,884 (GRCm39)	missense	probably damaging	1.00
R9320:Mbl2	UTSW	19	30,216,741 (GRCm39)	missense	probably damaging	1.00
R9499:Mbl2	UTSW	19	30,216,664 (GRCm39)	missense	probably damaging	1.00
Z1177:Mbl2	UTSW	19	30,211,397 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TACTTGGGCATCACAGATGTG -3'
(R):5'- AGGGAAACGCCATTACCAAG -3'

Sequencing Primer
(F):5'- CAGATGTGAGGGTTGAAGGC -3'
(R):5'- CACAGAGCACAAGAGTCATAAATG -3'

Posted On

2015-07-07