Mutagenetix > Incidental Mutations

Incidental Mutation 'R7159:Man2b1'

557511

Institutional Source

Beutler Lab

Gene Symbol

Man2b1

Ensembl Gene

ENSMUSG00000005142

Gene Name

mannosidase 2, alpha B1

Synonyms

lysosomal alpha-mannosidase

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7159 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85083270-85098282 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85087280 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 291 (T291M)

Ref Sequence

ENSEMBL: ENSMUSP00000034121 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034121
AA Change: T291M

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000034121
Gene: ENSMUSG00000005142
AA Change: T291M

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

probably benign
Transcript: ENSMUST00000209264

Predicted Effect

probably benign
Transcript: ENSMUST00000209361

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	A	7: 75,730,579	V500E	possibly damaging	Het
Ankrd34b	T	C	13: 92,439,462	S401P	probably benign	Het
Arfgef2	T	A	2: 166,826,928	D41E	probably benign	Het
Arid1a	T	C	4: 133,753,568	N15S	unknown	Het
Arsa	A	T	15: 89,474,718		probably null	Het
B3gnt9	C	A	8: 105,254,432	C108F	probably damaging	Het
Bbc3	C	A	7: 16,313,808	Y152*	probably null	Het
Btbd1	T	C	7: 81,818,209	M188V	probably benign	Het
Caln1	C	T	5: 130,822,997	T209I	probably benign	Het
Casp12	C	T	9: 5,353,763	P266S	possibly damaging	Het
Ccm2l	A	T	2: 153,070,867	I109F	probably damaging	Het
Chst15	A	C	7: 132,270,258	L98R	probably damaging	Het
Ctsq	A	G	13: 61,038,923	M89T	probably benign	Het
Ddx39b	T	C	17: 35,247,010	V169A	probably benign	Het
Ddx58	A	G	4: 40,213,804	V618A	probably benign	Het
Fam57b	T	C	7: 126,827,495	F80S	probably damaging	Het
Fhad1	T	C	4: 141,951,616	H583R	probably benign	Het
Fndc1	T	A	17: 7,800,931	I139F	probably damaging	Het
Gm5724	T	A	6: 141,773,778	M1L	probably damaging	Het
Gm7145	C	G	1: 117,985,831	H148D	probably benign	Het
Gpr62	C	A	9: 106,465,442	A96S	probably damaging	Het
Gsap	T	A	5: 21,270,620		probably null	Het
Hdhd5	T	A	6: 120,523,471	T89S	probably damaging	Het
Kcna5	T	A	6: 126,533,629	Y512F	probably damaging	Het
Krt84	C	A	15: 101,529,609	E304*	probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,189,077		probably benign	Het
Lrp6	C	A	6: 134,507,551	V370L	probably benign	Het
Lrrc3c	G	A	11: 98,599,318	G167D	probably damaging	Het
Mapkbp1	A	G	2: 120,025,132	E1438G	possibly damaging	Het
Med12l	A	G	3: 59,276,017	T1947A	probably benign	Het
Myh15	A	T	16: 49,061,574	T60S	probably damaging	Het
Myo5a	A	T	9: 75,171,563	I868F	probably benign	Het
Myom3	A	T	4: 135,808,851	I1278F	probably damaging	Het
Nbn	G	T	4: 15,983,677		probably null	Het
Ncam2	G	T	16: 81,490,374	S392I	probably damaging	Het
Nrg3	A	C	14: 38,370,735	L647*	probably null	Het
Olfr1062	T	A	2: 86,423,612		probably null	Het
Olfr1393	A	T	11: 49,280,358	D70V	probably damaging	Het
Olfr1406	A	T	1: 173,184,323	L37Q	possibly damaging	Het
Olfr721-ps1	T	C	14: 14,407,251	S8P	possibly damaging	Het
Pcdhb9	A	G	18: 37,401,492	N180D	possibly damaging	Het
Pcdhga4	A	G	18: 37,686,919	N507S	probably damaging	Het
Pdilt	A	G	7: 119,487,951	V492A	probably benign	Het
Phf12	A	G	11: 78,023,540	T603A	possibly damaging	Het
Phox2b	T	A	5: 67,097,585	I174F	probably benign	Het
Polq	A	T	16: 37,062,853	Q1793L	possibly damaging	Het
Prmt9	T	C	8: 77,555,764	F97L	probably benign	Het
Prpsap1	T	C	11: 116,494,044	E13G	probably benign	Het
Ptpru	A	G	4: 131,819,540	L280P	probably damaging	Het
Pygl	A	T	12: 70,197,406	M587K	probably benign	Het
Rc3h2	T	C	2: 37,409,647	S124G	probably benign	Het
Rdh5	A	G	10: 128,918,315	I83T	possibly damaging	Het
Ryr2	T	G	13: 11,810,908	R561S	probably damaging	Het
Scara3	A	G	14: 65,920,780	L593P	probably damaging	Het
Scfd2	T	C	5: 74,531,343	I93V	probably benign	Het
Sema4f	C	A	6: 82,917,883	V444L	possibly damaging	Het
Spata33	T	C	8: 123,214,395	L61P	unknown	Het
Stard10	A	T	7: 101,343,136		probably null	Het
Stub1	T	C	17: 25,832,064	I115V	probably benign	Het
Tmem247	C	T	17: 86,918,282	T50I	probably benign	Het
Tnrc6b	A	G	15: 80,887,022	M1103V	possibly damaging	Het
Trim61	T	C	8: 65,013,874	Y245C	probably benign	Het
Trip13	T	C	13: 73,920,011	I284V	probably benign	Het
Trpm4	T	C	7: 45,327,268		probably null	Het
Ttn	A	G	2: 76,730,574	L29161S	probably damaging	Het
Ttn	C	A	2: 76,909,748	L3528F	unknown	Het
Ube2v2	G	A	16: 15,581,084	T47I	probably benign	Het
Vwa5b1	C	T	4: 138,575,422	A921T	possibly damaging	Het
Xylt1	T	A	7: 117,637,602	F526Y	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
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	unclassified	probably null
R6828:Man2b1	UTSW	8	85086919	missense	possibly damaging	0.88
R6983:Man2b1	UTSW	8	85091071	splice site	probably null
R7267:Man2b1	UTSW	8	85087175	missense	probably damaging	1.00
R7537:Man2b1	UTSW	8	85090965	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGTGACAGGCTCTGACCC -3'
(R):5'- ATGCACCAGTTATAGCTATAGGAC -3'

Sequencing Primer
(F):5'- ACCCCAGGACAGGTCTG -3'
(R):5'- GATAACTCTCATTCCGGAGCATGTG -3'

Posted On

2019-06-26