Mutagenetix > Incidental Mutation

Incidental Mutation 'R6291:Man2b1'

508432

Institutional Source

Beutler Lab

Gene Symbol

Man2b1

Ensembl Gene

ENSMUSG00000005142

Gene Name

mannosidase 2, alpha B1

Synonyms

lysosomal alpha-mannosidase

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6291 (G1)

Quality Score

170.009

Status

Validated

Chromosome

Chromosomal Location

85809899-85824911 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85823675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 973 (T973I)

Ref Sequence

ENSEMBL: ENSMUSP00000034121 (fasta)

Gene Model

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

AlphaFold

O09159

Predicted Effect

probably benign
Transcript: ENSMUST00000034121
AA Change: T973I

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000034121
Gene: ENSMUSG00000005142
AA Change: T973I

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (86/88)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 87,293,173 (GRCm39)	G5D	possibly damaging	Het
Adamts9	T	C	6: 92,867,101 (GRCm39)	K95R	probably damaging	Het
Adap1	G	T	5: 139,259,246 (GRCm39)	L314M	probably benign	Het
Alkbh1	T	A	12: 87,475,864 (GRCm39)	E306V	possibly damaging	Het
Alpk2	T	A	18: 65,438,972 (GRCm39)	D1274V	possibly damaging	Het
Ankrd31	A	C	13: 97,014,746 (GRCm39)	K1188N	possibly damaging	Het
Aox1	T	A	1: 58,369,965 (GRCm39)	M759K	probably damaging	Het
Atp13a3	T	A	16: 30,155,061 (GRCm39)	D961V	probably damaging	Het
Bcl11a	G	A	11: 24,108,321 (GRCm39)	G100R	probably damaging	Het
Bpifc	G	A	10: 85,812,122 (GRCm39)	A362V	probably damaging	Het
Btaf1	C	T	19: 36,950,408 (GRCm39)	T546I	probably benign	Het
Casd1	C	A	6: 4,619,834 (GRCm39)	P193Q	probably damaging	Het
Cdhr1	T	C	14: 36,811,422 (GRCm39)	T230A	probably benign	Het
Celsr3	T	G	9: 108,706,041 (GRCm39)	D841E	probably damaging	Het
Cenpj	T	C	14: 56,789,433 (GRCm39)	D872G	probably benign	Het
Cep95	G	T	11: 106,706,422 (GRCm39)	A559S	probably damaging	Het
Chpt1	A	T	10: 88,311,306 (GRCm39)	C62*	probably null	Het
Cspg4b	T	A	13: 113,456,981 (GRCm39)	I1009N	possibly damaging	Het
Cspp1	A	G	1: 10,134,559 (GRCm39)	K103R	probably damaging	Het
Ctla4	T	C	1: 60,951,837 (GRCm39)	V122A	probably benign	Het
Cyp3a11	A	G	5: 145,799,237 (GRCm39)	F317L	possibly damaging	Het
Daam1	T	C	12: 71,993,025 (GRCm39)	L338P	unknown	Het
Dcc	T	A	18: 71,815,238 (GRCm39)	I379L	probably benign	Het
Dennd2c	C	A	3: 103,038,925 (GRCm39)	C24*	probably null	Het
Dnai3	G	A	3: 145,772,648 (GRCm39)	S466L	probably benign	Het
Dnajc12	A	G	10: 63,233,053 (GRCm39)	I65V	probably benign	Het
Dock3	T	A	9: 106,785,631 (GRCm39)	M208L	probably benign	Het
Dsg1b	T	C	18: 20,537,848 (GRCm39)	I588T	possibly damaging	Het
Eif1b	T	C	9: 120,323,206 (GRCm39)	L22S	probably benign	Het
Ep300	T	A	15: 81,532,708 (GRCm39)	S1649T	unknown	Het
Eps15	CAAA	CAA	4: 109,162,900 (GRCm39)		probably null	Het
Ercc6	A	T	14: 32,291,943 (GRCm39)	E1102D	probably benign	Het
Gsdmc3	T	C	15: 63,732,090 (GRCm39)	N312S	probably benign	Het
Guca2b	A	T	4: 119,514,890 (GRCm39)	L57Q	probably damaging	Het
Heatr5b	G	T	17: 79,069,526 (GRCm39)	H1740Q	probably benign	Het
Hecw1	G	A	13: 14,697,592 (GRCm39)		probably benign	Het
Icam5	A	G	9: 20,948,217 (GRCm39)	H675R	probably benign	Het
Il18rap	T	C	1: 40,564,049 (GRCm39)	F56L	probably benign	Het
Iqgap3	T	A	3: 87,997,037 (GRCm39)		probably null	Het
Itsn1	T	C	16: 91,664,984 (GRCm39)		probably benign	Het
Jakmip3	A	T	7: 138,622,585 (GRCm39)	D315V	probably damaging	Het
Kif24	A	G	4: 41,413,959 (GRCm39)	Y328H	probably damaging	Het
Kmt2a	A	T	9: 44,744,171 (GRCm39)		probably benign	Het
Kng1	A	G	16: 22,898,475 (GRCm39)	E625G	probably damaging	Het
Masp2	G	A	4: 148,687,210 (GRCm39)	V31M	probably damaging	Het
Myo18b	C	T	5: 113,013,601 (GRCm39)	R785H	possibly damaging	Het
Naa15	G	A	3: 51,350,212 (GRCm39)	G103D	probably damaging	Het
Or4f15	A	G	2: 111,813,969 (GRCm39)	V150A	probably benign	Het
Or5m11b	A	G	2: 85,805,926 (GRCm39)	Y113C	probably damaging	Het
Or7e177	T	A	9: 20,211,899 (GRCm39)	D134E	probably damaging	Het
Papln	A	G	12: 83,829,789 (GRCm39)	N970S	probably benign	Het
Pick1	T	A	15: 79,135,928 (GRCm39)		probably null	Het
Pigr	A	C	1: 130,769,498 (GRCm39)	D103A	probably benign	Het
Plekhf1	A	C	7: 37,921,029 (GRCm39)	F180V	possibly damaging	Het
Plxnc1	A	G	10: 94,669,504 (GRCm39)		probably null	Het
Polr3f	A	G	2: 144,376,308 (GRCm39)	I136V	probably damaging	Het
Ppp2r2c	T	C	5: 37,097,468 (GRCm39)	M218T	possibly damaging	Het
Prox2	C	T	12: 85,136,420 (GRCm39)	V466I	probably damaging	Het
Prrc2a	G	A	17: 35,373,909 (GRCm39)	L1479F	probably damaging	Het
Rbm24	T	A	13: 46,575,313 (GRCm39)		probably null	Het
Rcc1l	A	T	5: 134,195,560 (GRCm39)		probably null	Het
Ripk4	A	C	16: 97,556,323 (GRCm39)	L140R	probably damaging	Het
Rmnd1	A	T	10: 4,372,135 (GRCm39)	L188Q	probably damaging	Het
Rnf170	C	T	8: 26,630,992 (GRCm39)	P249S	probably damaging	Het
Rras	A	G	7: 44,667,595 (GRCm39)		probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Scn7a	T	A	2: 66,530,458 (GRCm39)	D629V	probably damaging	Het
Sipa1l3	A	G	7: 29,087,558 (GRCm39)	S556P	probably damaging	Het
Smarca2	C	T	19: 26,608,292 (GRCm39)	A117V	probably damaging	Het
Snca	C	T	6: 60,792,702 (GRCm39)	A69T	probably damaging	Het
Snx2	T	C	18: 53,342,737 (GRCm39)		probably null	Het
Spp1	T	A	5: 104,587,242 (GRCm39)	S109T	possibly damaging	Het
Stoml3	T	C	3: 53,414,937 (GRCm39)	L243P	probably damaging	Het
Susd2	A	G	10: 75,473,408 (GRCm39)	F789L	possibly damaging	Het
Sycp1	A	G	3: 102,816,277 (GRCm39)	M419T	probably damaging	Het
Thoc1	T	C	18: 9,993,330 (GRCm39)	V563A	probably benign	Het
Tmprss11g	T	C	5: 86,635,281 (GRCm39)	I398V	probably damaging	Het
Tox3	A	G	8: 90,975,566 (GRCm39)	L355P	probably damaging	Het
Tpp1	A	G	7: 105,396,223 (GRCm39)	I492T	probably benign	Het
Trim21	A	T	7: 102,213,289 (GRCm39)	L3Q	probably damaging	Het
Ttn	A	C	2: 76,738,080 (GRCm39)	V4153G	probably benign	Het
Ttn	T	C	2: 76,744,638 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,560,756 (GRCm39)	E828G	possibly damaging	Het
Vav3	A	G	3: 109,416,170 (GRCm39)	N263S	possibly damaging	Het
Vmn1r183	A	C	7: 23,754,982 (GRCm39)	T262P	possibly damaging	Het
Vmn2r67	G	A	7: 84,799,142 (GRCm39)	P522S	possibly damaging	Het
Vps35	T	A	8: 86,026,086 (GRCm39)	M1L	probably benign	Het
Xpo7	A	T	14: 70,942,130 (GRCm39)	L79*	probably null	Het
Zc3h14	G	A	12: 98,726,087 (GRCm39)	R324H	probably damaging	Het
Zfp330	T	C	8: 83,499,613 (GRCm39)	T6A	probably damaging	Het
Zfp948	T	A	17: 21,807,286 (GRCm39)	H159Q	unknown	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
R1471:Man2b1	UTSW	8	85,813,474 (GRCm39)	missense	probably damaging	0.99
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
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'- AGATTCGGATCGCAACCTGAG -3'
(R):5'- TCCTTGAACCAGACACTGATGG -3'

Sequencing Primer
(F):5'- CCTGTAACCTTGAACGTTCAGGTG -3'
(R):5'- CACTGATGGAGATGAACTCATGCTG -3'

Posted On

2018-03-15