Mutagenetix > Incidental Mutation

Incidental Mutation 'R2120:Man2b1'

231383

Institutional Source

Beutler Lab

Gene Symbol

Man2b1

Ensembl Gene

ENSMUSG00000005142

Gene Name

mannosidase 2, alpha B1

Synonyms

lysosomal alpha-mannosidase

MMRRC Submission

040124-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2120 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85809899-85824911 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 85819653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034121]

AlphaFold

O09159

Predicted Effect

probably benign
Transcript: ENSMUST00000034121

SMART Domains

Protein: ENSMUSP00000034121
Gene: ENSMUSG00000005142

Domain	Start	End	E-Value	Type
low complexity region	40	51	N/A	INTRINSIC
Pfam:Glyco_hydro_38	64	381	2.7e-96	PFAM
Alpha-mann_mid	386	465	4.25e-23	SMART
Pfam:Glyco_hydro_38C	510	1002	6.2e-106	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211223

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211379

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (86/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele show urinary oligosaccharide excretion, storage of neutral sugars, oligosaccharide buildup in spleen, kidney, liver, testis and brain, clear vacuoles and axonal spheroids in CNS, PNS and other cell types, behavioralchanges, and enhanced long-term potentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,259,013 (GRCm39)		probably benign	Het
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Actrt2	C	T	4: 154,751,551 (GRCm39)	R195Q	probably benign	Het
Adamts12	C	T	15: 11,310,665 (GRCm39)	T974I	probably damaging	Het
Ankrd65	A	G	4: 155,876,530 (GRCm39)	T239A	probably benign	Het
Ano7	G	T	1: 93,329,855 (GRCm39)		probably benign	Het
Apc	A	T	18: 34,409,654 (GRCm39)	E198V	probably damaging	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Atp9a	A	T	2: 168,495,457 (GRCm39)	V583E	probably damaging	Het
Bicral	C	T	17: 47,135,741 (GRCm39)	A490T	probably benign	Het
C1rl	C	T	6: 124,485,672 (GRCm39)	P348S	probably damaging	Het
Cog1	T	C	11: 113,540,424 (GRCm39)	L13P	probably damaging	Het
Cx3cr1	T	A	9: 119,880,749 (GRCm39)	T218S	probably damaging	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
E2f4	A	G	8: 106,026,973 (GRCm39)	Y179C	probably damaging	Het
Ecel1	A	G	1: 87,075,997 (GRCm39)	S727P	probably damaging	Het
Endod1	T	C	9: 14,268,949 (GRCm39)	N179D	probably benign	Het
Epc2	C	T	2: 49,437,621 (GRCm39)		probably benign	Het
Ets2	G	T	16: 95,519,977 (GRCm39)	R401L	probably benign	Het
Fgd4	C	T	16: 16,243,692 (GRCm39)	C614Y	probably benign	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Frem3	A	T	8: 81,342,086 (GRCm39)	T1460S	probably benign	Het
H2-M1	T	G	17: 36,980,929 (GRCm39)	T336P	possibly damaging	Het
Ikbkb	T	C	8: 23,157,233 (GRCm39)		probably benign	Het
Ipo7	G	T	7: 109,648,838 (GRCm39)	D704Y	probably damaging	Het
Jaml	T	A	9: 45,012,362 (GRCm39)	I283N	probably damaging	Het
Jarid2	G	T	13: 45,059,812 (GRCm39)	M681I	probably benign	Het
Kif4-ps	T	C	12: 101,113,956 (GRCm39)	L695P	probably damaging	Het
Kmt2d	A	G	15: 98,737,410 (GRCm39)		probably benign	Het
Krt25	T	C	11: 99,212,023 (GRCm39)	T205A	probably benign	Het
Lif	T	C	11: 4,219,051 (GRCm39)	V110A	possibly damaging	Het
Ltbp1	T	A	17: 75,617,154 (GRCm39)	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,286,440 (GRCm39)	S249P	probably benign	Het
Med16	A	T	10: 79,738,916 (GRCm39)	M290K	possibly damaging	Het
Mov10l1	C	A	15: 88,891,830 (GRCm39)	Q562K	probably benign	Het
Msantd2	C	T	9: 37,434,227 (GRCm39)	R357W	probably damaging	Het
Mtcl2	T	C	2: 156,875,245 (GRCm39)	E835G	probably damaging	Het
Mtmr6	T	C	14: 60,534,108 (GRCm39)	F449L	probably damaging	Het
Myt1l	A	T	12: 29,833,618 (GRCm39)		probably null	Het
Neb	A	G	2: 52,154,076 (GRCm39)	F2345S	probably damaging	Het
Nlrp6	T	C	7: 140,506,357 (GRCm39)	V766A	probably benign	Het
Or11g27	T	C	14: 50,771,403 (GRCm39)	I178T	probably damaging	Het
Or4k36	A	G	2: 111,145,844 (GRCm39)	T7A	probably benign	Het
Or6d13	A	T	6: 116,517,416 (GRCm39)	M1L	probably null	Het
Or8k22	G	A	2: 86,163,689 (GRCm39)	R4C	probably benign	Het
Patj	T	A	4: 98,344,462 (GRCm39)	D591E	probably benign	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Pitpnm2	G	A	5: 124,265,332 (GRCm39)	P757L	probably damaging	Het
Plcd4	A	G	1: 74,603,584 (GRCm39)	T662A	probably benign	Het
Podn	C	T	4: 107,880,558 (GRCm39)	A31T	probably damaging	Het
Prss37	G	A	6: 40,492,294 (GRCm39)	R186*	probably null	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Psmd1	T	A	1: 86,006,422 (GRCm39)	S263T	possibly damaging	Het
Pum1	C	A	4: 130,396,581 (GRCm39)	T112K	possibly damaging	Het
Rab3gap2	A	T	1: 184,993,564 (GRCm39)	D782V	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Reln	G	A	5: 22,174,083 (GRCm39)	H2007Y	probably damaging	Het
Rhbdl2	T	A	4: 123,718,712 (GRCm39)	I222K	probably damaging	Het
Rimbp2	A	G	5: 128,865,582 (GRCm39)	S582P	probably damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Sars1	T	C	3: 108,341,472 (GRCm39)	I114V	probably benign	Het
Scamp5	C	A	9: 57,354,508 (GRCm39)	V49F	possibly damaging	Het
Sec14l1	C	T	11: 117,039,358 (GRCm39)		probably benign	Het
Serpinb8	A	G	1: 107,533,617 (GRCm39)	E224G	probably damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Slco6c1	C	T	1: 96,993,808 (GRCm39)	R645H	possibly damaging	Het
Srgn	T	A	10: 62,343,413 (GRCm39)		probably benign	Het
Stk40	C	T	4: 126,022,640 (GRCm39)	T138I	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tada3	T	C	6: 113,347,976 (GRCm39)	I263V	possibly damaging	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tas2r115	T	A	6: 132,714,470 (GRCm39)	R160S	possibly damaging	Het
Trak1	T	A	9: 121,302,063 (GRCm39)	*940R	probably null	Het
Trp53bp2	A	G	1: 182,269,204 (GRCm39)	M223V	probably benign	Het
Ttc21b	C	T	2: 66,057,098 (GRCm39)	V625I	probably benign	Het
Txnrd1	T	A	10: 82,723,067 (GRCm39)	C421S	possibly damaging	Het
Unc45a	T	C	7: 79,989,846 (GRCm39)	T8A	probably benign	Het
Usp6nl	T	A	2: 6,445,748 (GRCm39)	V552E	probably damaging	Het
Vmn2r115	T	G	17: 23,578,297 (GRCm39)	L590R	probably damaging	Het
Vmn2r88	A	T	14: 51,650,665 (GRCm39)	H126L	probably benign	Het
Vps13c	A	G	9: 67,826,616 (GRCm39)	D1419G	possibly damaging	Het
Vwa3a	A	G	7: 120,391,641 (GRCm39)	T776A	probably benign	Het
Zfp580	T	C	7: 5,056,008 (GRCm39)	Y123H	probably damaging	Het

Other mutations in Man2b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Man2b1	APN	8	85,811,267 (GRCm39)	splice site	probably null
IGL00671:Man2b1	APN	8	85,820,567 (GRCm39)	missense	probably damaging	0.98
IGL01538:Man2b1	APN	8	85,824,059 (GRCm39)	missense	probably benign	0.00
dateline	UTSW	8	85,811,366 (GRCm39)	missense	probably damaging	1.00
greenwich	UTSW	8	85,812,085 (GRCm39)	nonsense	probably null
longitude	UTSW	8	85,821,773 (GRCm39)	nonsense	probably null
meridian	UTSW	8	85,823,381 (GRCm39)	missense	probably damaging	1.00
R0018:Man2b1	UTSW	8	85,824,118 (GRCm39)	missense	probably damaging	1.00
R0302:Man2b1	UTSW	8	85,819,645 (GRCm39)	missense	probably damaging	1.00
R0574:Man2b1	UTSW	8	85,823,405 (GRCm39)	missense	probably benign
R0727:Man2b1	UTSW	8	85,818,155 (GRCm39)	missense	probably damaging	1.00
R0837:Man2b1	UTSW	8	85,823,458 (GRCm39)	missense	possibly damaging	0.92
R1087:Man2b1	UTSW	8	85,821,800 (GRCm39)	missense	probably damaging	1.00
R1471:Man2b1	UTSW	8	85,813,474 (GRCm39)	missense	probably damaging	0.99
R1745:Man2b1	UTSW	8	85,820,563 (GRCm39)	missense	probably damaging	1.00
R1903:Man2b1	UTSW	8	85,813,451 (GRCm39)	missense	probably damaging	1.00
R2026:Man2b1	UTSW	8	85,821,964 (GRCm39)	missense	probably damaging	0.99
R2071:Man2b1	UTSW	8	85,812,013 (GRCm39)	missense	possibly damaging	0.90
R3897:Man2b1	UTSW	8	85,823,577 (GRCm39)	splice site	probably benign
R3971:Man2b1	UTSW	8	85,812,020 (GRCm39)	missense	probably damaging	0.98
R3972:Man2b1	UTSW	8	85,812,020 (GRCm39)	missense	probably damaging	0.98
R4096:Man2b1	UTSW	8	85,811,366 (GRCm39)	missense	probably damaging	1.00
R4497:Man2b1	UTSW	8	85,817,565 (GRCm39)	missense	probably benign	0.22
R5183:Man2b1	UTSW	8	85,822,413 (GRCm39)	missense	probably damaging	1.00
R5191:Man2b1	UTSW	8	85,811,088 (GRCm39)	missense	probably damaging	1.00
R5644:Man2b1	UTSW	8	85,820,839 (GRCm39)	missense	possibly damaging	0.61
R6027:Man2b1	UTSW	8	85,823,381 (GRCm39)	missense	probably damaging	1.00
R6291:Man2b1	UTSW	8	85,823,675 (GRCm39)	missense	probably benign	0.44
R6341:Man2b1	UTSW	8	85,822,028 (GRCm39)	missense	probably damaging	1.00
R6467:Man2b1	UTSW	8	85,824,076 (GRCm39)	missense	possibly damaging	0.91
R6622:Man2b1	UTSW	8	85,811,108 (GRCm39)	missense	probably damaging	1.00
R6624:Man2b1	UTSW	8	85,823,482 (GRCm39)	missense	probably benign	0.01
R6631:Man2b1	UTSW	8	85,813,440 (GRCm39)	splice site	probably null
R6828:Man2b1	UTSW	8	85,813,548 (GRCm39)	missense	possibly damaging	0.88
R6983:Man2b1	UTSW	8	85,817,700 (GRCm39)	splice site	probably null
R7159:Man2b1	UTSW	8	85,813,909 (GRCm39)	missense	probably benign	0.09
R7267:Man2b1	UTSW	8	85,813,804 (GRCm39)	missense	probably damaging	1.00
R7537:Man2b1	UTSW	8	85,817,594 (GRCm39)	nonsense	probably null
R7786:Man2b1	UTSW	8	85,812,085 (GRCm39)	nonsense	probably null
R8022:Man2b1	UTSW	8	85,822,242 (GRCm39)	missense	probably damaging	1.00
R8069:Man2b1	UTSW	8	85,823,674 (GRCm39)	missense	probably benign	0.03
R8251:Man2b1	UTSW	8	85,821,758 (GRCm39)	missense	probably damaging	0.99
R8406:Man2b1	UTSW	8	85,822,907 (GRCm39)	missense	probably damaging	1.00
R8464:Man2b1	UTSW	8	85,820,772 (GRCm39)	missense	possibly damaging	0.55
R8701:Man2b1	UTSW	8	85,821,782 (GRCm39)	missense	probably damaging	1.00
R8792:Man2b1	UTSW	8	85,821,773 (GRCm39)	nonsense	probably null
R8891:Man2b1	UTSW	8	85,811,084 (GRCm39)	missense	probably damaging	1.00
R8930:Man2b1	UTSW	8	85,822,022 (GRCm39)	missense	probably damaging	1.00
R8932:Man2b1	UTSW	8	85,822,022 (GRCm39)	missense	probably damaging	1.00
R8953:Man2b1	UTSW	8	85,818,539 (GRCm39)	missense	probably benign	0.36
R9059:Man2b1	UTSW	8	85,818,155 (GRCm39)	missense	probably damaging	1.00
Z1176:Man2b1	UTSW	8	85,820,567 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGTGAGACTTACCAATGGGAGC -3'
(R):5'- AGAAGCCTTCCATGACCCTTC -3'

Sequencing Primer
(F):5'- ACTTACCAATGGGAGCTGCTG -3'
(R):5'- TAGATTTACACAGCTGCTCCAG -3'

Posted On

2014-09-18