Mutagenetix > Incidental Mutation

Incidental Mutation 'R8891:Man2b1'

677692

Institutional Source

Beutler Lab

Gene Symbol

Man2b1

Ensembl Gene

ENSMUSG00000005142

Gene Name

mannosidase 2, alpha B1

Synonyms

lysosomal alpha-mannosidase

MMRRC Submission

068753-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8891 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85083270-85098282 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 85084455 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 72 (H72N)

Ref Sequence

ENSEMBL: ENSMUSP00000034121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034121] [ENSMUST00000079764] [ENSMUST00000093357] [ENSMUST00000140621] [ENSMUST00000149050] [ENSMUST00000152785] [ENSMUST00000209264] [ENSMUST00000209361]

AlphaFold

O09159

Predicted Effect

probably damaging
Transcript: ENSMUST00000034121
AA Change: H72N

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

SMART Domains

Protein: ENSMUSP00000034121
Gene: ENSMUSG00000005142
AA Change: H72N

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: ENSMUST00000093357

SMART Domains

Protein: ENSMUSP00000091048
Gene: ENSMUSG00000005150

Domain	Start	End	E-Value	Type
WD40	14	53	1.05e-7	SMART
WD40	56	95	8.42e-7	SMART
WD40	98	137	8.1e-9	SMART
WD40	142	179	5.52e-2	SMART
WD40	182	219	1.66e0	SMART
WD40	222	263	7e-4	SMART
WD40	266	304	4.75e1	SMART

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

probably benign
Transcript: ENSMUST00000149050

SMART Domains

Protein: ENSMUSP00000121568
Gene: ENSMUSG00000005150

Domain	Start	End	E-Value	Type
WD40	14	53	1.05e-7	SMART
WD40	56	95	8.42e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152785

SMART Domains

Protein: ENSMUSP00000122127
Gene: ENSMUSG00000005150

Domain	Start	End	E-Value	Type
WD40	14	53	1.05e-7	SMART
WD40	56	95	8.42e-7	SMART
WD40	140	177	5.52e-2	SMART
WD40	180	217	1.66e0	SMART
WD40	220	261	7e-4	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000209264
AA Change: T46K

Predicted Effect

probably benign
Transcript: ENSMUST00000209361

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 138,066,759	K570*	probably null	Het
Abi1	T	C	2: 22,971,250	I99V	probably damaging	Het
Adgrg7	T	A	16: 56,752,399	E351D	probably benign	Het
Ankrd34c	T	G	9: 89,730,090	K66T	probably damaging	Het
Asap2	C	T	12: 21,112,143	R34W	probably damaging	Het
Atr	A	G	9: 95,905,760	T1469A	probably benign	Het
Btbd11	G	A	10: 85,388,094	G256R	unknown	Het
Celsr1	G	T	15: 85,937,993	R1708S	probably benign	Het
Chmp2a	T	A	7: 13,033,913	E28D	probably benign	Het
Cldn24	A	T	8: 47,822,246	N35I	probably benign	Het
Coa6	G	C	8: 126,422,831		probably null	Het
Copa	C	T	1: 172,119,251	R1009C	probably damaging	Het
Crybb2	G	A	5: 113,062,047	T150M	possibly damaging	Het
Ctnnd2	A	T	15: 30,619,930	T143S	probably benign	Het
Eid3	A	G	10: 82,867,158	N151S	probably damaging	Het
Fbxo17	G	T	7: 28,735,308	V173L	possibly damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203		probably benign	Het
Galntl6	T	C	8: 57,962,399	N240S	probably damaging	Het
Gck	G	T	11: 5,901,733	S445R	probably damaging	Het
Gm21964	T	A	8: 110,110,131	S216R	possibly damaging	Het
Gm5114	C	A	7: 39,408,294	V634F	probably benign	Het
Gm8251	T	C	1: 44,057,124	I1605V	probably benign	Het
Gnat2	G	A	3: 108,098,318	D200N		Het
H13	A	G	2: 152,704,129	N390S	probably benign	Het
Helz	T	A	11: 107,662,016	M1206K	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kank1	G	A	19: 25,410,075	G371R	probably benign	Het
Kif13b	A	G	14: 64,744,877	T513A	probably damaging	Het
L3mbtl4	T	C	17: 68,455,786	S105P	possibly damaging	Het
Lpo	T	A	11: 87,807,022	E653V	probably benign	Het
Lyst	A	G	13: 13,712,850	D3088G	possibly damaging	Het
Mast3	A	T	8: 70,781,157	H981Q	probably damaging	Het
Meioc	T	A	11: 102,668,420	I56N	probably benign	Het
Mul1	A	C	4: 138,434,853	K32Q	probably benign	Het
Oas1c	C	T	5: 120,808,061	S124N	probably benign	Het
Olfr1302	A	T	2: 111,780,841	I174F	probably damaging	Het
Olfr437	A	G	6: 43,167,816	I253V	probably benign	Het
Olfr794	A	G	10: 129,571,177	H174R	probably damaging	Het
Omg	T	A	11: 79,503,003	K10*	probably null	Het
Pcdhb14	T	A	18: 37,449,639	N599K	probably damaging	Het
Pcdhb18	C	A	18: 37,490,647	N343K	probably damaging	Het
Phf7	C	A	14: 31,249,656		probably benign	Het
Pramef20	C	T	4: 144,372,827	C456Y	probably damaging	Het
Qdpr	T	C	5: 45,447,640	N42S	probably damaging	Het
Rbm44	T	A	1: 91,162,414	D716E	probably benign	Het
Rprd2	A	C	3: 95,764,055	H1345Q	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Het
Ryr2	G	A	13: 11,799,882	A668V	probably damaging	Het
Sag	T	A	1: 87,831,961	L307Q	probably damaging	Het
Sash1	G	A	10: 8,727,970	P1106L	probably damaging	Het
Sec16b	T	A	1: 157,554,839	I615N	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384		probably benign	Het
Slco1b2	T	C	6: 141,683,267	V600A	probably benign	Het
Sucnr1	A	G	3: 60,086,842	T264A	probably benign	Het
Tbx3	A	G	5: 119,671,918		probably benign	Het
Tigd5	T	C	15: 75,911,220	V477A	possibly damaging	Het
Ttc17	G	A	2: 94,362,419	A89V	probably damaging	Het
Twsg1	A	G	17: 65,948,662	I39T		Het
Zfp184	T	C	13: 21,959,342	F406S	probably damaging	Het
Zfp429	A	T	13: 67,390,711	C205S	probably damaging	Het
Zfp59	T	A	7: 27,854,888	D588E	probably benign	Het
Zfp64	A	T	2: 168,955,163	M1K	probably null	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
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'- CTCCAAAGTTAAGGCCTGTGC -3'
(R):5'- TTCAGGAAGTCAAGGTCCAC -3'

Sequencing Primer
(F):5'- CAAAGTTAAGGCCTGTGCTTGTACC -3'
(R):5'- GGTCCACTAGAAGATATGCATTGC -3'

Posted On

2021-08-02