Mutagenetix > Incidental Mutation

Incidental Mutation 'R1471:Man2b1'

164899

Institutional Source

Beutler Lab

Gene Symbol

Man2b1

Ensembl Gene

ENSMUSG00000005142

Gene Name

mannosidase 2, alpha B1

Synonyms

lysosomal alpha-mannosidase

MMRRC Submission

039524-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1471 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85809899-85824911 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85813474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 222 (D222G)

Ref Sequence

ENSEMBL: ENSMUSP00000034121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034121] [ENSMUST00000079764] [ENSMUST00000140621] [ENSMUST00000209264] [ENSMUST00000209361]

AlphaFold

O09159

Predicted Effect

probably damaging
Transcript: ENSMUST00000034121
AA Change: D222G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034121
Gene: ENSMUSG00000005142
AA Change: D222G

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

probably benign
Transcript: ENSMUST00000079764

SMART Domains

Protein: ENSMUSP00000078697
Gene: ENSMUSG00000059355

Domain	Start	End	E-Value	Type
low complexity region	7	21	N/A	INTRINSIC
Pfam:UPF0139	85	183	6.8e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140621

SMART Domains

Protein: ENSMUSP00000117962
Gene: ENSMUSG00000059355

Domain	Start	End	E-Value	Type
Pfam:UPF0139	5	88	1.4e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148592

Predicted Effect

probably benign
Transcript: ENSMUST00000209264

Predicted Effect

probably benign
Transcript: ENSMUST00000209361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211223

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211379

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.8%
20x: 94.4%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	C	A	13: 61,001,336 (GRCm39)	K130N	probably damaging	Het
Adam6a	T	A	12: 113,508,013 (GRCm39)	S129T	probably damaging	Het
Adamts10	T	A	17: 33,772,112 (GRCm39)	F1087I	probably damaging	Het
Afp	T	A	5: 90,651,541 (GRCm39)	N385K	possibly damaging	Het
Ahnak	T	G	19: 8,990,296 (GRCm39)		probably benign	Het
Akap6	A	G	12: 53,188,279 (GRCm39)	T1898A	probably benign	Het
Antxr2	C	A	5: 98,123,199 (GRCm39)	V283F	possibly damaging	Het
Asgr1	T	C	11: 69,946,919 (GRCm39)	V55A	possibly damaging	Het
Asxl3	A	G	18: 22,649,411 (GRCm39)	K467E	probably damaging	Het
Atp5f1a	C	A	18: 77,868,969 (GRCm39)	Q398K	probably damaging	Het
Atxn2	T	A	5: 121,924,437 (GRCm39)	D455E	probably damaging	Het
B4galt6	C	T	18: 20,878,410 (GRCm39)	A39T	possibly damaging	Het
C130073F10Rik	C	T	4: 101,747,535 (GRCm39)	E165K	probably benign	Het
Cabin1	A	G	10: 75,530,626 (GRCm39)	C1519R	probably damaging	Het
Casp8ap2	C	T	4: 32,639,386 (GRCm39)	R147*	probably null	Het
Ccdc88b	A	G	19: 6,831,391 (GRCm39)	L517P	probably benign	Het
Cd109	G	A	9: 78,561,869 (GRCm39)	V220I	probably damaging	Het
Cd2ap	T	C	17: 43,131,488 (GRCm39)	K369R	probably benign	Het
Cd300c	A	G	11: 114,850,614 (GRCm39)	V63A	probably benign	Het
Cnot10	A	G	9: 114,420,619 (GRCm39)	V741A	probably benign	Het
Col18a1	G	T	10: 76,932,040 (GRCm39)	Q350K	unknown	Het
Crnkl1	T	C	2: 145,774,236 (GRCm39)	K76E	possibly damaging	Het
Cryzl2	A	G	1: 157,298,291 (GRCm39)	K227E	probably benign	Het
Cts6	G	A	13: 61,344,194 (GRCm39)	T286I	probably benign	Het
Cul1	T	C	6: 47,491,820 (GRCm39)	V392A	probably damaging	Het
Dcaf7	T	A	11: 105,937,573 (GRCm39)	F65L	probably benign	Het
Dgke	A	C	11: 88,946,320 (GRCm39)	V160G	possibly damaging	Het
Dock8	C	A	19: 25,178,400 (GRCm39)	Q2098K	possibly damaging	Het
Efhb	T	A	17: 53,706,140 (GRCm39)	D799V	possibly damaging	Het
Ephb2	T	C	4: 136,386,262 (GRCm39)	D829G	probably benign	Het
Exosc1	A	T	19: 41,913,157 (GRCm39)	S117R	probably damaging	Het
Fga	T	C	3: 82,935,925 (GRCm39)	S51P	probably benign	Het
Fmn1	T	C	2: 113,523,439 (GRCm39)	F1141L	possibly damaging	Het
Foxm1	C	T	6: 128,350,837 (GRCm39)	L713F	probably damaging	Het
Galnt4	A	G	10: 98,944,536 (GRCm39)	E87G	probably benign	Het
Gamt	T	C	10: 80,096,692 (GRCm39)	D15G	probably benign	Het
Gm15557	C	A	2: 155,784,174 (GRCm39)	D154E	possibly damaging	Het
Gnptab	A	G	10: 88,281,625 (GRCm39)	I1211V	probably benign	Het
Greb1	A	T	12: 16,761,775 (GRCm39)	M535K	probably damaging	Het
Grm8	C	A	6: 27,363,308 (GRCm39)	A736S	possibly damaging	Het
Hspa14	T	C	2: 3,492,645 (GRCm39)	I373M	probably benign	Het
Ifi207	T	A	1: 173,557,629 (GRCm39)	T370S	unknown	Het
Igf1r	A	G	7: 67,653,585 (GRCm39)	N41S	probably damaging	Het
Ikzf5	A	T	7: 130,993,496 (GRCm39)	V224D	probably damaging	Het
Il10	C	A	1: 130,949,110 (GRCm39)	Y90*	probably null	Het
Itga4	A	G	2: 79,117,376 (GRCm39)	D394G	probably benign	Het
Kif21a	A	T	15: 90,840,622 (GRCm39)	S1165T	probably benign	Het
Krtap14	A	G	16: 88,622,515 (GRCm39)	S155P	probably damaging	Het
Loxl2	A	G	14: 69,930,546 (GRCm39)	N770S	probably benign	Het
Mcub	T	A	3: 129,709,464 (GRCm39)	Y283F	probably damaging	Het
Meis3	T	A	7: 15,911,496 (GRCm39)	Y64*	probably null	Het
Mfsd6	T	A	1: 52,748,716 (GRCm39)	I50F	probably benign	Het
Micu2	T	C	14: 58,182,854 (GRCm39)	T165A	probably damaging	Het
Mtcl1	T	C	17: 66,686,143 (GRCm39)	E921G	probably damaging	Het
Muc5b	A	T	7: 141,396,971 (GRCm39)	N215Y	unknown	Het
Muc6	A	G	7: 141,234,176 (GRCm39)	F772L	possibly damaging	Het
Myt1	A	G	2: 181,438,904 (GRCm39)	D142G	probably benign	Het
Nol6	C	T	4: 41,120,281 (GRCm39)	V479I	probably benign	Het
Nsun7	A	G	5: 66,441,572 (GRCm39)	K414E	probably benign	Het
Nup210l	A	C	3: 90,077,869 (GRCm39)	I914L	probably benign	Het
Obox3	G	A	7: 15,360,875 (GRCm39)	P88L	probably benign	Het
Or10ag57	A	G	2: 87,218,862 (GRCm39)	Y271C	probably damaging	Het
Or4f4b	T	C	2: 111,314,351 (GRCm39)	L192P	probably damaging	Het
Or8h8	C	T	2: 86,752,922 (GRCm39)		probably null	Het
Or8w1	T	C	2: 87,466,014 (GRCm39)	T26A	probably benign	Het
Pclo	T	C	5: 14,730,441 (GRCm39)		probably benign	Het
Pcsk5	T	C	19: 17,545,688 (GRCm39)	N745D	probably damaging	Het
Pdzrn3	T	A	6: 101,128,473 (GRCm39)	N731I	possibly damaging	Het
Pkdrej	T	A	15: 85,701,334 (GRCm39)	Q1534L	probably benign	Het
Pramel28	T	C	4: 143,691,523 (GRCm39)	N400S	probably benign	Het
Rell1	T	A	5: 64,093,428 (GRCm39)	D109V	probably damaging	Het
Rplp0	C	T	5: 115,701,403 (GRCm39)	T285I	probably damaging	Het
Sanbr	A	T	11: 23,565,222 (GRCm39)	M255K	probably damaging	Het
Sema3g	C	T	14: 30,950,002 (GRCm39)	R728C	probably damaging	Het
Slc15a2	A	G	16: 36,574,153 (GRCm39)	Y536H	probably damaging	Het
Slc26a5	T	A	5: 22,021,962 (GRCm39)	Y488F	probably benign	Het
Slc5a4a	A	T	10: 76,022,362 (GRCm39)	S566C	probably damaging	Het
Spink7	C	T	18: 62,729,275 (GRCm39)	E21K	possibly damaging	Het
Src	C	T	2: 157,299,107 (GRCm39)	Q35*	probably null	Het
Srrm2	T	A	17: 24,039,770 (GRCm39)	V2234E	probably damaging	Het
Stk36	A	T	1: 74,650,314 (GRCm39)	Q282L	probably benign	Het
Tas2r118	T	G	6: 23,969,170 (GRCm39)	E297A	probably damaging	Het
Terf1	A	G	1: 15,913,194 (GRCm39)	Y385C	probably damaging	Het
Tmc3	T	C	7: 83,247,498 (GRCm39)	S198P	probably damaging	Het
Tmprss11b	C	T	5: 86,808,355 (GRCm39)	R407H	possibly damaging	Het
Tspyl4	G	A	10: 34,174,107 (GRCm39)	E200K	probably damaging	Het
Ttc21a	T	C	9: 119,771,707 (GRCm39)	Y169H	probably damaging	Het
Ugt2b36	C	T	5: 87,239,930 (GRCm39)	D152N	probably damaging	Het
Unk	T	C	11: 115,940,235 (GRCm39)	I196T	probably benign	Het
Uroc1	T	G	6: 90,321,153 (GRCm39)	V243G	probably damaging	Het
Usp34	C	A	11: 23,438,862 (GRCm39)	Q3475K	probably benign	Het
Vmn2r117	T	A	17: 23,697,447 (GRCm39)	I82L	probably benign	Het
Vmn2r44	A	T	7: 8,380,882 (GRCm39)	V337E	probably damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp362	T	C	4: 128,680,993 (GRCm39)	T111A	probably benign	Het
Zfp598	T	C	17: 24,899,046 (GRCm39)	V615A	probably benign	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
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
R2120:Man2b1	UTSW	8	85,819,653 (GRCm39)	splice site	probably benign
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'- agccatctttctggcccTGAAAAC -3'
(R):5'- GTCTGTACATAGCACATCCCAGCAC -3'

Sequencing Primer
(F):5'- tctttctggcccTGAAAACCATAG -3'
(R):5'- ATCCCAGCACAGGTATTTCGG -3'

Posted On

2014-03-28