Mutagenetix > Incidental Mutation

Incidental Mutation 'R8930:Man2b1'

680254

Institutional Source

Beutler Lab

Gene Symbol

Man2b1

Ensembl Gene

ENSMUSG00000005142

Gene Name

mannosidase 2, alpha B1

Synonyms

lysosomal alpha-mannosidase

MMRRC Submission

068774-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8930 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85083270-85098282 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85095393 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 746 (T746A)

Ref Sequence

ENSEMBL: ENSMUSP00000034121 (fasta)

Gene Model

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

AlphaFold

O09159

Predicted Effect

probably damaging
Transcript: ENSMUST00000034121
AA Change: T746A

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

SMART Domains

Protein: ENSMUSP00000034121
Gene: ENSMUSG00000005142
AA Change: T746A

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

Meta Mutation Damage Score

0.9396

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (64/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	C	T	13: 59,742,201	E184K	possibly damaging	Het
4921524L21Rik	T	C	18: 6,629,693		probably null	Het
Abl2	A	G	1: 156,633,832	T435A	probably damaging	Het
Adamtsl3	C	T	7: 82,611,861	P29S		Het
Ankrd11	C	T	8: 122,895,979	R378K	probably damaging	Het
Arap1	G	A	7: 101,408,117	R1355Q	possibly damaging	Het
Ass1	T	A	2: 31,492,375	M186K	probably damaging	Het
Bckdk	A	G	7: 127,908,010	D312G	probably benign	Het
Btg3	T	A	16: 78,373,410	N3I	probably benign	Het
C87414	T	G	5: 93,638,085	D112A	probably benign	Het
Cd163	T	C	6: 124,317,923	F649L	probably damaging	Het
Cdh1	ACTCGAAATGATGTGGCTC	ACTC	8: 106,666,238		probably benign	Het
Cnksr3	A	T	10: 7,160,780	V27E	probably damaging	Het
Col12a1	A	T	9: 79,673,383	S1512T	probably benign	Het
Cstf1	A	G	2: 172,375,703	T79A	probably benign	Het
Defa24	T	C	8: 21,735,357	Y88H	probably benign	Het
Dgkz	C	T	2: 91,939,570	R389Q	probably damaging	Het
Dsg3	T	A	18: 20,539,661	D796E	probably damaging	Het
Dyrk3	G	T	1: 131,129,556	D293E	probably damaging	Het
Epb42	T	C	2: 121,024,286	D606G	probably benign	Het
Erich5	G	A	15: 34,453,698	G18S	probably benign	Het
Fam196a	A	G	7: 134,899,152	I408T	probably damaging	Het
Fam196b	T	C	11: 34,402,707	S250P	probably benign	Het
Fam8a1	C	T	13: 46,674,392	T352M	probably benign	Het
Fastkd3	T	A	13: 68,583,716	L52Q	probably benign	Het
Fat3	G	A	9: 15,999,523	H1728Y	probably benign	Het
Fgl1	A	G	8: 41,209,831	V39A	probably benign	Het
Gm7298	T	C	6: 121,765,071	V484A	probably benign	Het
Gpr75	A	G	11: 30,892,571	Q492R	possibly damaging	Het
Hoxc8	A	G	15: 102,990,886	H36R	possibly damaging	Het
Isy1	T	C	6: 87,821,531	I214V	probably damaging	Het
Kdm5b	C	T	1: 134,616,272	P853L	probably damaging	Het
Mast3	A	T	8: 70,781,733		probably benign	Het
Mki67	A	G	7: 135,698,899	S1469P	possibly damaging	Het
Mrps30	C	T	13: 118,387,159	A26T	probably benign	Het
Mup10	T	A	4: 60,580,709	T92S	possibly damaging	Het
Otud7a	A	G	7: 63,757,491	D514G	possibly damaging	Het
Pacs1	T	A	19: 5,135,002	S932C	probably damaging	Het
Pbx2	C	T	17: 34,594,589	R188C	probably damaging	Het
Pclo	C	T	5: 14,712,975	P536S	possibly damaging	Het
Pdxdc1	A	T	16: 13,854,405	I377N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Phip	T	C	9: 82,906,988	K758E	possibly damaging	Het
Ptprm	C	T	17: 66,956,851	R467H	probably benign	Het
Scnn1b	C	T	7: 121,902,844	R242C	probably damaging	Het
Seh1l	T	C	18: 67,775,064	S19P	possibly damaging	Het
Slc28a1	T	A	7: 81,167,967	V528D	probably benign	Het
Slc6a17	G	T	3: 107,472,191	Q554K	probably benign	Het
Spag16	G	A	1: 70,299,769		probably null	Het
Srfbp1	T	A	18: 52,490,045	N377K	possibly damaging	Het
Stap2	A	G	17: 55,997,895	S296P	probably benign	Het
Tnr	A	T	1: 159,912,789	I1178F	probably damaging	Het
Tomt	C	T	7: 101,901,143	A139T	probably damaging	Het
Trak2	T	C	1: 58,935,808	Q75R	probably benign	Het
Tulp1	T	C	17: 28,364,494	K58E	probably benign	Het
Utp6	A	G	11: 79,943,229		probably null	Het
Vmn1r21	T	C	6: 57,844,013	T149A	probably benign	Het
Vmn1r238	C	T	18: 3,123,127	V96M	probably benign	Het
Vmn1r9	T	A	6: 57,071,681	I247N	probably damaging	Het
Vps33b	T	C	7: 80,282,493	C138R	possibly damaging	Het
Wnk1	A	T	6: 119,963,265	V837E	probably damaging	Het
Xirp2	C	T	2: 67,482,363	H59Y	possibly damaging	Het
Zbtb38	G	T	9: 96,686,381	D883E	probably benign	Het
Zbtb7a	C	A	10: 81,144,534	D187E	probably benign	Het
Zfp511	T	C	7: 140,037,529	V148A	probably damaging	Het
Zfp52	A	G	17: 21,560,430	D180G	possibly 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
R8406:Man2b1	UTSW	8	85096278	missense	probably damaging	1.00
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
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'- AGTGATTCGCCTGTACAAAGG -3'
(R):5'- ATTCAATGTCCAGGTGGGTCG -3'

Sequencing Primer
(F):5'- CTGTACAAAGGACAGCGCCATTTG -3'
(R):5'- TCCAGGTGGGTCGATAATCATCC -3'

Posted On

2021-08-31