Mutagenetix > Incidental Mutation

Incidental Mutation 'R8022:Man2b1'

617456

Institutional Source

Beutler Lab

Gene Symbol

Man2b1

Ensembl Gene

ENSMUSG00000005142

Gene Name

mannosidase 2, alpha B1

Synonyms

lysosomal alpha-mannosidase

MMRRC Submission

067461-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8022 (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 A at 85095613 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 782 (R782Q)

Ref Sequence

ENSEMBL: ENSMUSP00000034121 (fasta)

Gene Model

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

AlphaFold

O09159

Predicted Effect

probably damaging
Transcript: ENSMUST00000034121
AA Change: R782Q

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

SMART Domains

Protein: ENSMUSP00000034121
Gene: ENSMUSG00000005142
AA Change: R782Q

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: 98.6%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,223,854 (GRCm38)	T1386S	probably benign	Het
AI661453	T	G	17: 47,466,236 (GRCm38)	S296A	unknown	Het
Ambp	G	T	4: 63,144,197 (GRCm38)	N268K	probably damaging	Het
Ankrd11	T	C	8: 122,887,593 (GRCm38)	K2503E	probably damaging	Het
Ap1g1	C	A	8: 109,832,735 (GRCm38)	R221S	possibly damaging	Het
Ap5z1	T	C	5: 142,470,149 (GRCm38)		probably null	Het
Aspa	A	C	11: 73,322,206 (GRCm38)	N103K	probably benign	Het
Bend7	G	A	2: 4,752,779 (GRCm38)	V211I	probably benign	Het
Bsn	A	G	9: 108,114,404 (GRCm38)	M1383T	probably benign	Het
Cad	G	T	5: 31,068,806 (GRCm38)	V1117F	probably damaging	Het
Cdh2	A	G	18: 16,590,301 (GRCm38)	L856S	probably damaging	Het
Cdh7	T	A	1: 110,061,108 (GRCm38)	S247T	probably benign	Het
Ces1b	A	G	8: 93,069,315 (GRCm38)		probably null	Het
Chd7	T	A	4: 8,751,605 (GRCm38)	V34E	unknown	Het
Clca3a2	A	T	3: 144,805,766 (GRCm38)	F623I	probably damaging	Het
Cope	T	G	8: 70,312,803 (GRCm38)	M217R	probably benign	Het
Crim1	T	A	17: 78,315,555 (GRCm38)	I394N	possibly damaging	Het
Crnkl1	A	T	2: 145,918,566 (GRCm38)	I644N	probably damaging	Het
Cry1	G	A	10: 85,146,402 (GRCm38)	A360V	probably damaging	Het
Ctcfl	A	T	2: 173,118,766 (GRCm38)	V8D	probably benign	Het
Cyp2d34	G	A	15: 82,616,114 (GRCm38)	Q475*	probably null	Het
Cyp39a1	T	C	17: 43,746,577 (GRCm38)	Y436H	probably damaging	Het
Cyp3a25	T	A	5: 145,977,668 (GRCm38)	Q484L	probably benign	Het
Dnah1	A	G	14: 31,265,014 (GRCm38)	F3607S	probably damaging	Het
Dnali1	T	A	4: 125,065,530 (GRCm38)	K23N	possibly damaging	Het
Ecel1	T	C	1: 87,153,330 (GRCm38)	I313V	probably benign	Het
Ehhadh	C	A	16: 21,777,820 (GRCm38)	A53S	probably benign	Het
Epcam	T	C	17: 87,646,308 (GRCm38)	S277P	probably benign	Het
Fbxo10	T	C	4: 45,062,062 (GRCm38)	I155V	possibly damaging	Het
Fgd6	A	T	10: 94,044,344 (GRCm38)	K353N	possibly damaging	Het
Glce	A	T	9: 62,060,591 (GRCm38)	M426K	probably benign	Het
Glmp	A	T	3: 88,326,520 (GRCm38)	N228I	probably damaging	Het
Gm4787	C	A	12: 81,377,720 (GRCm38)	V555F	possibly damaging	Het
Gm5114	T	A	7: 39,409,376 (GRCm38)	H273L	probably benign	Het
Gzmg	T	A	14: 56,157,446 (GRCm38)	T122S	probably benign	Het
Hace1	T	C	10: 45,700,970 (GRCm38)	V820A	probably damaging	Het
Igf2r	T	A	17: 12,718,795 (GRCm38)	D535V	probably damaging	Het
Kcnd3	A	G	3: 105,458,873 (GRCm38)	M20V	probably benign	Het
Kcnn3	T	G	3: 89,609,703 (GRCm38)	I473S	possibly damaging	Het
Klhl35	T	A	7: 99,473,239 (GRCm38)	F94Y	unknown	Het
Kmt2c	C	T	5: 25,281,680 (GRCm38)	V4712I	possibly damaging	Het
Lepr	A	G	4: 101,782,557 (GRCm38)	E740G	probably benign	Het
Lmod3	T	C	6: 97,248,299 (GRCm38)	D187G	probably benign	Het
Lsm3	C	T	6: 91,519,561 (GRCm38)	H49Y	probably benign	Het
Lypd10	T	A	7: 24,714,174 (GRCm38)	I205N	possibly damaging	Het
Magi1	T	C	6: 93,697,365 (GRCm38)	S962G	probably damaging	Het
Mical2	A	T	7: 112,303,767 (GRCm38)	K148N	probably damaging	Het
Nbeal1	C	T	1: 60,260,272 (GRCm38)	Q1256*	probably null	Het
Ncam1	G	T	9: 49,564,892 (GRCm38)	A299D	possibly damaging	Het
Ncapg	A	G	5: 45,681,794 (GRCm38)	D512G	probably damaging	Het
Nkiras2	A	G	11: 100,624,287 (GRCm38)	N28D	probably benign	Het
Nprl2	A	C	9: 107,543,061 (GRCm38)	K53T	probably damaging	Het
Nr4a3	T	A	4: 48,051,510 (GRCm38)	I88N	probably damaging	Het
Oas3	A	G	5: 120,756,966 (GRCm38)	I986T	possibly damaging	Het
Or6c76	A	T	10: 129,776,785 (GRCm38)	L305F	possibly damaging	Het
Pcsk1	A	T	13: 75,099,293 (GRCm38)	Y187F	possibly damaging	Het
Pgc	A	G	17: 47,728,776 (GRCm38)	T32A	probably benign	Het
Ranbp2	A	C	10: 58,485,861 (GRCm38)	D2660A	possibly damaging	Het
Retreg1	A	G	15: 25,843,479 (GRCm38)	R46G		Het
Rrbp1	C	A	2: 143,956,792 (GRCm38)	K1100N	probably benign	Het
Rsph10b	A	T	5: 143,967,232 (GRCm38)	T676S	probably benign	Het
Setdb1	T	A	3: 95,347,085 (GRCm38)	D195V	probably damaging	Het
Setdb1	A	T	3: 95,338,599 (GRCm38)	F672I	probably damaging	Het
Slc12a8	A	G	16: 33,625,086 (GRCm38)	E450G	probably benign	Het
Slc1a7	G	A	4: 108,012,276 (GRCm38)	V513M	probably benign	Het
Slc25a12	A	T	2: 71,275,189 (GRCm38)	V667E	unknown	Het
Slc39a3	T	C	10: 81,031,277 (GRCm38)	T212A	probably benign	Het
Slc45a1	C	T	4: 150,638,309 (GRCm38)	G373S	possibly damaging	Het
Snx11	G	A	11: 96,772,854 (GRCm38)	T53M	probably damaging	Het
Snx33	A	G	9: 56,925,340 (GRCm38)	F482L	possibly damaging	Het
Srebf2	C	T	15: 82,178,765 (GRCm38)	R468C	probably damaging	Het
Stk32a	C	T	18: 43,315,101 (GRCm38)	Q382*	probably null	Het
Sun3	C	A	11: 9,023,376 (GRCm38)	S167I	probably damaging	Het
Sycp2	A	G	2: 178,355,062 (GRCm38)	L1116P	probably damaging	Het
Thbs4	T	G	13: 92,752,447 (GRCm38)	T913P	probably damaging	Het
Trav8d-1	C	T	14: 52,778,827 (GRCm38)	Q57*	probably null	Het
Trio	C	G	15: 27,749,866 (GRCm38)	V2250L	probably benign	Het
Unc119b	A	T	5: 115,127,043 (GRCm38)	I204N	probably damaging	Het
Usp4	A	G	9: 108,378,471 (GRCm38)	E576G	probably damaging	Het
Uvssa	T	A	5: 33,409,504 (GRCm38)	L515Q	probably damaging	Het
Xkr8	T	C	4: 132,732,338 (GRCm38)	Y43C	probably damaging	Het
Xpo6	G	A	7: 126,169,254 (GRCm38)	L94F	probably benign	Het
Zbtb11	A	G	16: 56,006,020 (GRCm38)	K804R	probably damaging	Het
Zfp616	A	G	11: 74,084,068 (GRCm38)	R479G	probably benign	Het
Zfp661	T	C	2: 127,577,924 (GRCm38)	T99A	probably benign	Het
Zfp839	A	T	12: 110,855,098 (GRCm38)	Q115H	probably damaging	Het
Zyg11a	C	T	4: 108,189,568 (GRCm38)		probably null	Het

Other mutations in Man2b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Man2b1	APN	8	85,084,638 (GRCm38)	splice site	probably null
IGL00671:Man2b1	APN	8	85,093,938 (GRCm38)	missense	probably damaging	0.98
IGL01538:Man2b1	APN	8	85,097,430 (GRCm38)	missense	probably benign	0.00
dateline	UTSW	8	85,084,737 (GRCm38)	missense	probably damaging	1.00
greenwich	UTSW	8	85,085,456 (GRCm38)	nonsense	probably null
longitude	UTSW	8	85,095,144 (GRCm38)	nonsense	probably null
meridian	UTSW	8	85,096,752 (GRCm38)	missense	probably damaging	1.00
R0018:Man2b1	UTSW	8	85,097,489 (GRCm38)	missense	probably damaging	1.00
R0302:Man2b1	UTSW	8	85,093,016 (GRCm38)	missense	probably damaging	1.00
R0574:Man2b1	UTSW	8	85,096,776 (GRCm38)	missense	probably benign
R0727:Man2b1	UTSW	8	85,091,526 (GRCm38)	missense	probably damaging	1.00
R0837:Man2b1	UTSW	8	85,096,829 (GRCm38)	missense	possibly damaging	0.92
R1087:Man2b1	UTSW	8	85,095,171 (GRCm38)	missense	probably damaging	1.00
R1471:Man2b1	UTSW	8	85,086,845 (GRCm38)	missense	probably damaging	0.99
R1745:Man2b1	UTSW	8	85,093,934 (GRCm38)	missense	probably damaging	1.00
R1903:Man2b1	UTSW	8	85,086,822 (GRCm38)	missense	probably damaging	1.00
R2026:Man2b1	UTSW	8	85,095,335 (GRCm38)	missense	probably damaging	0.99
R2071:Man2b1	UTSW	8	85,085,384 (GRCm38)	missense	possibly damaging	0.90
R2120:Man2b1	UTSW	8	85,093,024 (GRCm38)	splice site	probably benign
R3897:Man2b1	UTSW	8	85,096,948 (GRCm38)	splice site	probably benign
R3971:Man2b1	UTSW	8	85,085,391 (GRCm38)	missense	probably damaging	0.98
R3972:Man2b1	UTSW	8	85,085,391 (GRCm38)	missense	probably damaging	0.98
R4096:Man2b1	UTSW	8	85,084,737 (GRCm38)	missense	probably damaging	1.00
R4497:Man2b1	UTSW	8	85,090,936 (GRCm38)	missense	probably benign	0.22
R5183:Man2b1	UTSW	8	85,095,784 (GRCm38)	missense	probably damaging	1.00
R5191:Man2b1	UTSW	8	85,084,459 (GRCm38)	missense	probably damaging	1.00
R5644:Man2b1	UTSW	8	85,094,210 (GRCm38)	missense	possibly damaging	0.61
R6027:Man2b1	UTSW	8	85,096,752 (GRCm38)	missense	probably damaging	1.00
R6291:Man2b1	UTSW	8	85,097,046 (GRCm38)	missense	probably benign	0.44
R6341:Man2b1	UTSW	8	85,095,399 (GRCm38)	missense	probably damaging	1.00
R6467:Man2b1	UTSW	8	85,097,447 (GRCm38)	missense	possibly damaging	0.91
R6622:Man2b1	UTSW	8	85,084,479 (GRCm38)	missense	probably damaging	1.00
R6624:Man2b1	UTSW	8	85,096,853 (GRCm38)	missense	probably benign	0.01
R6631:Man2b1	UTSW	8	85,086,811 (GRCm38)	splice site	probably null
R6828:Man2b1	UTSW	8	85,086,919 (GRCm38)	missense	possibly damaging	0.88
R6983:Man2b1	UTSW	8	85,091,071 (GRCm38)	splice site	probably null
R7159:Man2b1	UTSW	8	85,087,280 (GRCm38)	missense	probably benign	0.09
R7267:Man2b1	UTSW	8	85,087,175 (GRCm38)	missense	probably damaging	1.00
R7537:Man2b1	UTSW	8	85,090,965 (GRCm38)	nonsense	probably null
R7786:Man2b1	UTSW	8	85,085,456 (GRCm38)	nonsense	probably null
R8069:Man2b1	UTSW	8	85,097,045 (GRCm38)	missense	probably benign	0.03
R8251:Man2b1	UTSW	8	85,095,129 (GRCm38)	missense	probably damaging	0.99
R8406:Man2b1	UTSW	8	85,096,278 (GRCm38)	missense	probably damaging	1.00
R8464:Man2b1	UTSW	8	85,094,143 (GRCm38)	missense	possibly damaging	0.55
R8701:Man2b1	UTSW	8	85,095,153 (GRCm38)	missense	probably damaging	1.00
R8792:Man2b1	UTSW	8	85,095,144 (GRCm38)	nonsense	probably null
R8891:Man2b1	UTSW	8	85,084,455 (GRCm38)	missense	probably damaging	1.00
R8930:Man2b1	UTSW	8	85,095,393 (GRCm38)	missense	probably damaging	1.00
R8932:Man2b1	UTSW	8	85,095,393 (GRCm38)	missense	probably damaging	1.00
R8953:Man2b1	UTSW	8	85,091,910 (GRCm38)	missense	probably benign	0.36
R9059:Man2b1	UTSW	8	85,091,526 (GRCm38)	missense	probably damaging	1.00
Z1176:Man2b1	UTSW	8	85,093,938 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTCTTCACGGACAGCAACG -3'
(R):5'- TCTCACCATGAGCTCCAACG -3'

Sequencing Primer
(F):5'- AACGGCCGGGAAATCCTG -3'
(R):5'- ACGAGCCATCCTGCAGACTG -3'

Posted On

2020-01-23