Mutagenetix > Incidental Mutation

Incidental Mutation 'R8406:Man2b1'

652422

Institutional Source

Beutler Lab

Gene Symbol

Man2b1

Ensembl Gene

ENSMUSG00000005142

Gene Name

mannosidase 2, alpha B1

Synonyms

lysosomal alpha-mannosidase

MMRRC Submission

067765-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8406 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85083270-85098282 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 85096278 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 816 (R816L)

Ref Sequence

ENSEMBL: ENSMUSP00000034121 (fasta)

Gene Model

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

AlphaFold

O09159

Predicted Effect

probably damaging
Transcript: ENSMUST00000034121
AA Change: R816L

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

SMART Domains

Protein: ENSMUSP00000034121
Gene: ENSMUSG00000005142
AA Change: R816L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	C	A	17: 33,067,064	A255S	probably benign	Het
Abca8a	A	G	11: 110,086,517	F139L	probably damaging	Het
Adgrg6	A	T	10: 14,467,338	D288E	probably benign	Het
Agbl1	A	G	7: 76,418,667	E327G		Het
Aipl1	T	A	11: 72,031,506	M126L	possibly damaging	Het
Alkal2	G	T	12: 30,884,851	G23V	probably damaging	Het
Arl3	A	T	19: 46,542,384	S157T	probably benign	Het
Armc3	A	T	2: 19,235,554	I41F	probably damaging	Het
Atg9a	A	C	1: 75,190,384	Y8D	probably damaging	Het
Atp10b	T	G	11: 43,203,157	H509Q	probably benign	Het
Cabyr	C	A	18: 12,750,747	T97K	probably benign	Het
Ccdc91	T	C	6: 147,537,422	F174S	possibly damaging	Het
Cep350	A	T	1: 155,922,418	H1207Q	probably benign	Het
Clstn3	A	T	6: 124,462,177	N40K	probably damaging	Het
Col4a4	G	A	1: 82,523,890	P381S	unknown	Het
Cpne5	A	T	17: 29,209,481	F116Y	probably benign	Het
Csf2rb2	T	C	15: 78,287,016	T457A	probably benign	Het
Cyb5d2	T	C	11: 72,789,133	E112G	probably benign	Het
Cyp2b13	T	C	7: 26,081,798	F212L	probably benign	Het
Dlx6	T	G	6: 6,863,779	S134A	probably benign	Het
Egln1	A	G	8: 124,911,750	Y380H	probably benign	Het
Fam160a1	G	T	3: 85,672,720	P726Q	probably benign	Het
Fbxl13	A	T	5: 21,523,654	I479N	probably damaging	Het
Fis1	A	G	5: 136,963,011	K20E	probably benign	Het
Foxk1	G	T	5: 142,401,773	V84L	unknown	Het
Gdf5	C	A	2: 155,942,352	G227W	probably damaging	Het
Ghrh	T	A	2: 157,333,736	T13S	probably benign	Het
Gnb2	A	G	5: 137,528,603	L308P	probably damaging	Het
Grik2	A	T	10: 49,272,767	V574D	probably damaging	Het
Hydin	A	T	8: 110,609,911	I5107F	possibly damaging	Het
Kl	A	T	5: 150,982,764	Y533F	probably benign	Het
Myo5c	T	C	9: 75,275,541	Y821H	probably damaging	Het
Myo7b	A	T	18: 31,959,813	C2076S	probably damaging	Het
Naip6	C	T	13: 100,300,276	A580T	possibly damaging	Het
Nectin2	A	T	7: 19,738,350	V38E	probably damaging	Het
Olfr538	A	T	7: 140,574,131		probably benign	Het
Osbpl9	T	C	4: 109,064,573	Y536C	possibly damaging	Het
Pcdh18	T	G	3: 49,756,549	I106L	probably damaging	Het
Pde4dip	T	C	3: 97,699,112	K2149E	probably benign	Het
Pds5a	A	T	5: 65,646,338	C588S	probably benign	Het
Pop1	T	C	15: 34,529,170	M812T	probably benign	Het
Pou2f3	T	C	9: 43,139,858	T178A	probably damaging	Het
Rab44	C	T	17: 29,140,320	A494V	unknown	Het
Ros1	G	C	10: 52,101,845	T1456S	possibly damaging	Het
Rubcnl	T	G	14: 75,051,985	F644L	probably damaging	Het
Saraf	C	T	8: 34,165,448	P227L	probably benign	Het
Sh3glb1	T	G	3: 144,691,437	E383D	probably damaging	Het
Sh3rf3	T	C	10: 59,083,585	V508A	probably damaging	Het
Sirt6	A	T	10: 81,622,494	H308Q	probably benign	Het
Slc29a1	T	A	17: 45,589,780	I119F	probably damaging	Het
Smtnl1	C	T	2: 84,818,398	E171K	probably benign	Het
Spg11	T	A	2: 122,093,442	E799D	probably damaging	Het
Tecpr1	A	T	5: 144,200,840	W894R	probably damaging	Het
Tiam2	A	C	17: 3,507,790	I1230L	possibly damaging	Het
Tnfrsf8	A	G	4: 145,292,695	L190P	probably damaging	Het
Trim35	C	T	14: 66,297,275	T69M	possibly damaging	Het
Ttll7	T	C	3: 146,940,024	Y546H	probably benign	Het
Ubash3b	C	T	9: 41,029,675	G389R	probably damaging	Het
Vma21-ps	C	T	4: 52,497,034	V71I	probably damaging	Het
Vmn1r43	T	A	6: 89,870,432	H24L	possibly damaging	Het
Vps37c	T	A	19: 10,710,355	L60Q	probably damaging	Het
Ythdf2	A	G	4: 132,204,635	W405R	probably damaging	Het
Zfp775	T	C	6: 48,620,703	C504R	probably damaging	Het
Zfp82	A	G	7: 30,062,227		probably null	Het
Zpr1	T	A	9: 46,274,102	I127N	probably damaging	Het

Other mutations in Man2b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Man2b1	APN	8	85084638	splice site	probably null
IGL00671:Man2b1	APN	8	85093938	missense	probably damaging	0.98
IGL01538:Man2b1	APN	8	85097430	missense	probably benign	0.00
dateline	UTSW	8	85084737	missense	probably damaging	1.00
greenwich	UTSW	8	85085456	nonsense	probably null
longitude	UTSW	8	85095144	nonsense	probably null
meridian	UTSW	8	85096752	missense	probably damaging	1.00
R0018:Man2b1	UTSW	8	85097489	missense	probably damaging	1.00
R0302:Man2b1	UTSW	8	85093016	missense	probably damaging	1.00
R0574:Man2b1	UTSW	8	85096776	missense	probably benign
R0727:Man2b1	UTSW	8	85091526	missense	probably damaging	1.00
R0837:Man2b1	UTSW	8	85096829	missense	possibly damaging	0.92
R1087:Man2b1	UTSW	8	85095171	missense	probably damaging	1.00
R1471:Man2b1	UTSW	8	85086845	missense	probably damaging	0.99
R1745:Man2b1	UTSW	8	85093934	missense	probably damaging	1.00
R1903:Man2b1	UTSW	8	85086822	missense	probably damaging	1.00
R2026:Man2b1	UTSW	8	85095335	missense	probably damaging	0.99
R2071:Man2b1	UTSW	8	85085384	missense	possibly damaging	0.90
R2120:Man2b1	UTSW	8	85093024	splice site	probably benign
R3897:Man2b1	UTSW	8	85096948	splice site	probably benign
R3971:Man2b1	UTSW	8	85085391	missense	probably damaging	0.98
R3972:Man2b1	UTSW	8	85085391	missense	probably damaging	0.98
R4096:Man2b1	UTSW	8	85084737	missense	probably damaging	1.00
R4497:Man2b1	UTSW	8	85090936	missense	probably benign	0.22
R5183:Man2b1	UTSW	8	85095784	missense	probably damaging	1.00
R5191:Man2b1	UTSW	8	85084459	missense	probably damaging	1.00
R5644:Man2b1	UTSW	8	85094210	missense	possibly damaging	0.61
R6027:Man2b1	UTSW	8	85096752	missense	probably damaging	1.00
R6291:Man2b1	UTSW	8	85097046	missense	probably benign	0.44
R6341:Man2b1	UTSW	8	85095399	missense	probably damaging	1.00
R6467:Man2b1	UTSW	8	85097447	missense	possibly damaging	0.91
R6622:Man2b1	UTSW	8	85084479	missense	probably damaging	1.00
R6624:Man2b1	UTSW	8	85096853	missense	probably benign	0.01
R6631:Man2b1	UTSW	8	85086811	splice site	probably null
R6828:Man2b1	UTSW	8	85086919	missense	possibly damaging	0.88
R6983:Man2b1	UTSW	8	85091071	splice site	probably null
R7159:Man2b1	UTSW	8	85087280	missense	probably benign	0.09
R7267:Man2b1	UTSW	8	85087175	missense	probably damaging	1.00
R7537:Man2b1	UTSW	8	85090965	nonsense	probably null
R7786:Man2b1	UTSW	8	85085456	nonsense	probably null
R8022:Man2b1	UTSW	8	85095613	missense	probably damaging	1.00
R8069:Man2b1	UTSW	8	85097045	missense	probably benign	0.03
R8251:Man2b1	UTSW	8	85095129	missense	probably damaging	0.99
R8464:Man2b1	UTSW	8	85094143	missense	possibly damaging	0.55
R8701:Man2b1	UTSW	8	85095153	missense	probably damaging	1.00
R8792:Man2b1	UTSW	8	85095144	nonsense	probably null
R8891:Man2b1	UTSW	8	85084455	missense	probably damaging	1.00
R8930:Man2b1	UTSW	8	85095393	missense	probably damaging	1.00
R8932:Man2b1	UTSW	8	85095393	missense	probably damaging	1.00
R8953:Man2b1	UTSW	8	85091910	missense	probably benign	0.36
R9059:Man2b1	UTSW	8	85091526	missense	probably damaging	1.00
Z1176:Man2b1	UTSW	8	85093938	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GTTCAGGCCTTGACTTGTCC -3'
(R):5'- AGTGATAGGGACTGCTACCACC -3'

Sequencing Primer
(F):5'- GGCTCTTGTCAATTGGGCCTC -3'
(R):5'- TAGGGACTGCTACCACCCAGAG -3'

Posted On

2020-10-20