Mutagenetix > Incidental Mutation

Incidental Mutation 'R9499:Mbl2'

717461

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9499 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30210342-30217087 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30216664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 159 (A159T)

Ref Sequence

ENSEMBL: ENSMUSP00000025797 (fasta)

Gene Model

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

AlphaFold

P41317

Predicted Effect

probably damaging
Transcript: ENSMUST00000025797
AA Change: A159T

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

SMART Domains

Protein: ENSMUSP00000025797
Gene: ENSMUSG00000024863
AA Change: A159T

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd6	T	C	14: 8,028,329 (GRCm38)	I20T	possibly damaging	Het
Apoa5	G	C	9: 46,181,944 (GRCm39)	R340P	probably damaging	Het
Arhgap21	A	T	2: 20,886,397 (GRCm39)	V270E	probably damaging	Het
Arhgef17	T	C	7: 100,526,102 (GRCm39)	M851V	possibly damaging	Het
Arhgef5	A	T	6: 43,260,940 (GRCm39)	H1455L		Het
Birc6	T	A	17: 74,916,064 (GRCm39)	L1660Q	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cep120	C	A	18: 53,819,033 (GRCm39)	R886L	possibly damaging	Het
Cep290	T	C	10: 100,372,729 (GRCm39)	S1176P	probably damaging	Het
Cyp2j7	C	T	4: 96,115,840 (GRCm39)	R202H	probably damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Depdc7	C	T	2: 104,553,220 (GRCm39)		probably null	Het
Dnaaf11	T	C	15: 66,361,483 (GRCm39)	E6G	probably damaging	Het
Erbb4	G	A	1: 68,779,642 (GRCm39)	Q45*	probably null	Het
Ercc6	C	T	14: 32,284,525 (GRCm39)	R763C	probably damaging	Het
Gm14401	C	T	2: 176,778,337 (GRCm39)	A141V	probably benign	Het
Gm14496	A	G	2: 181,638,179 (GRCm39)	K418E	probably benign	Het
Gm8159	T	A	14: 15,850,264 (GRCm39)	I161K	probably damaging	Het
Hnrnpk	A	G	13: 58,544,058 (GRCm39)	S116P	probably benign	Het
Hs3st6	T	C	17: 24,977,228 (GRCm39)	L236P	probably damaging	Het
Il15	T	A	8: 83,061,177 (GRCm39)	H100L	probably benign	Het
Inpp5f	A	T	7: 128,295,437 (GRCm39)	I744F	possibly damaging	Het
Kif14	C	A	1: 136,455,219 (GRCm39)	S1630R	probably damaging	Het
Madd	T	C	2: 91,000,434 (GRCm39)	T544A	probably damaging	Het
Mfsd9	T	C	1: 40,813,152 (GRCm39)	T388A	probably damaging	Het
Mtor	C	T	4: 148,599,397 (GRCm39)	R1482C	probably damaging	Het
Myh11	T	A	16: 14,064,673 (GRCm39)	E215V		Het
Nmd3	T	C	3: 69,647,329 (GRCm39)	V277A	possibly damaging	Het
Nr2e1	A	T	10: 42,447,487 (GRCm39)	M175K	probably benign	Het
Nrxn1	T	C	17: 90,937,450 (GRCm39)	K669R	probably damaging	Het
Patl1	T	A	19: 11,897,728 (GRCm39)	M105K	possibly damaging	Het
Pck2	T	A	14: 55,780,081 (GRCm39)	I110N	probably damaging	Het
Pdzrn3	T	C	6: 101,127,855 (GRCm39)	D937G	probably damaging	Het
Phb1	G	A	11: 95,562,257 (GRCm39)	V45I	probably benign	Het
Pi4ka	T	C	16: 17,125,574 (GRCm39)	E1187G		Het
Piezo2	T	C	18: 63,166,033 (GRCm39)	E2066G	possibly damaging	Het
Plin1	T	C	7: 79,372,544 (GRCm39)	N343D	probably benign	Het
Polr1b	C	T	2: 128,957,684 (GRCm39)	R580*	probably null	Het
Rexo5	A	G	7: 119,404,480 (GRCm39)	E192G	probably damaging	Het
Rpain	T	C	11: 70,865,816 (GRCm39)	S194P	probably damaging	Het
Slco6c1	T	C	1: 97,055,827 (GRCm39)	S25G	probably benign	Het
Slitrk5	C	T	14: 111,916,496 (GRCm39)	T40I	probably benign	Het
Slu7	G	A	11: 43,329,095 (GRCm39)	V106I	probably benign	Het
Ssb	T	A	2: 69,696,982 (GRCm39)	D107E	probably benign	Het
Stc2	A	G	11: 31,310,332 (GRCm39)	S235P	probably benign	Het
Sult2a8	A	C	7: 14,157,487 (GRCm39)	V116G	probably damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Tgm1	T	C	14: 55,950,933 (GRCm39)		probably benign	Het
Tle5	T	C	10: 81,399,988 (GRCm39)	V62A	probably damaging	Het
Trf	C	T	9: 103,099,283 (GRCm39)	V339I	probably benign	Het
Ucp1	T	C	8: 84,024,509 (GRCm39)	L278P	probably damaging	Het
Vmn1r24	T	A	6: 57,933,150 (GRCm39)	I123F	possibly damaging	Het
Vmn2r9	T	A	5: 108,995,584 (GRCm39)	N355Y	probably damaging	Het
Yipf4	T	C	17: 74,806,024 (GRCm39)	F221S	probably damaging	Het
Zfp1005	C	A	2: 150,109,856 (GRCm39)	T182K	unknown	Het
Zfp595	A	T	13: 67,465,067 (GRCm39)	S402T	probably damaging	Het
Zfp710	A	G	7: 79,731,621 (GRCm39)	E266G	probably damaging	Het
Zfp827	T	G	8: 79,787,403 (GRCm39)	W190G	probably damaging	Het
Zscan4c	T	C	7: 10,740,853 (GRCm39)	V124A	probably benign	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
R4405:Mbl2	UTSW	19	30,216,916 (GRCm39)	missense	probably benign	0.15
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
Z1177:Mbl2	UTSW	19	30,211,397 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CATGGCTCCATTTGAACTTCAC -3'
(R):5'- AGGGGACATCGTTCCACTTG -3'

Sequencing Primer
(F):5'- GGCTCCATTTGAACTTCACACAATG -3'
(R):5'- ACTTGCCATTTCCCAAGATCAC -3'

Posted On

2022-07-18