Mutagenetix > Incidental Mutation

Incidental Mutation 'R5644:Man2b1'

440973

Institutional Source

Beutler Lab

Gene Symbol

Man2b1

Ensembl Gene

ENSMUSG00000005142

Gene Name

mannosidase 2, alpha B1

Synonyms

lysosomal alpha-mannosidase

MMRRC Submission

043292-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5644 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85809899-85824911 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85820839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 679 (I679N)

Ref Sequence

ENSEMBL: ENSMUSP00000034121 (fasta)

Gene Model

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

AlphaFold

O09159

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034121
AA Change: I679N

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034121
Gene: ENSMUSG00000005142
AA Change: I679N

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

noncoding transcript
Transcript: ENSMUST00000211379

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	T	10: 14,308,678 (GRCm39)	D805E	probably damaging	Het
Adrb2	A	T	18: 62,311,753 (GRCm39)	N357K	probably benign	Het
Ahnak	A	G	19: 8,988,021 (GRCm39)	K3102E	possibly damaging	Het
Alkal2	T	A	12: 30,934,889 (GRCm39)	L36Q	probably damaging	Het
Alkbh8	G	T	9: 3,385,384 (GRCm39)	V559F	probably damaging	Het
Apba2	A	G	7: 64,365,259 (GRCm39)	T346A	probably benign	Het
Arhgap10	C	T	8: 78,137,684 (GRCm39)	M302I	probably benign	Het
Asah1	G	T	8: 41,813,332 (GRCm39)	T27K	possibly damaging	Het
Bag2	A	G	1: 33,786,034 (GRCm39)	V96A	probably damaging	Het
Bicd1	C	T	6: 149,421,901 (GRCm39)	A874V	probably damaging	Het
C4b	T	C	17: 34,961,391 (GRCm39)	I189M	probably benign	Het
Cacna1a	A	G	8: 85,189,406 (GRCm39)	Y119C	probably damaging	Het
Calcr	A	G	6: 3,708,538 (GRCm39)	I216T	probably damaging	Het
Ccar1	T	C	10: 62,607,757 (GRCm39)	N302S	probably benign	Het
Ccdc93	A	G	1: 121,411,065 (GRCm39)	H446R	probably benign	Het
Cct6b	A	T	11: 82,613,281 (GRCm39)	L420Q	probably benign	Het
Cemip	T	C	7: 83,638,392 (GRCm39)	T273A	probably benign	Het
Cep128	A	T	12: 91,315,625 (GRCm39)	I87K	probably damaging	Het
Cfap221	A	G	1: 119,860,532 (GRCm39)	L698P	probably damaging	Het
Cfap43	T	A	19: 47,784,114 (GRCm39)	N473I	possibly damaging	Het
Clec12b	T	A	6: 129,356,923 (GRCm39)	I172L	probably benign	Het
Cntnap5b	A	C	1: 100,311,326 (GRCm39)	E606D	probably benign	Het
Cyp2c67	A	C	19: 39,604,138 (GRCm39)	V406G	possibly damaging	Het
Dhx57	T	C	17: 80,546,302 (GRCm39)	I1308V	possibly damaging	Het
Dnah7a	A	T	1: 53,580,138 (GRCm39)	M1599K	probably benign	Het
Dnajc21	A	T	15: 10,462,001 (GRCm39)	D133E	probably benign	Het
Dpp8	G	A	9: 64,953,017 (GRCm39)	W231*	probably null	Het
Dvl3	T	A	16: 20,345,026 (GRCm39)	I353N	probably damaging	Het
Fgd6	T	A	10: 93,969,912 (GRCm39)	I1187N	possibly damaging	Het
Fn1	A	T	1: 71,666,409 (GRCm39)	Y875N	probably damaging	Het
Gaa	T	A	11: 119,171,361 (GRCm39)	M671K	possibly damaging	Het
Gm11939	T	C	11: 99,450,138 (GRCm39)	D52G	probably damaging	Het
Gm14403	A	T	2: 177,199,054 (GRCm39)	H50L	possibly damaging	Het
Gpam	A	T	19: 55,077,331 (GRCm39)	D153E	probably benign	Het
Gzma	T	C	13: 113,234,794 (GRCm39)	T66A	probably damaging	Het
Hnmt	A	T	2: 23,904,251 (GRCm39)	W137R	probably damaging	Het
Hsd17b7	A	T	1: 169,783,517 (GRCm39)	V297D	probably damaging	Het
Ighv1-85	A	T	12: 115,963,680 (GRCm39)	S107T	possibly damaging	Het
Kif12	T	A	4: 63,084,130 (GRCm39)	Q624L	possibly damaging	Het
Kif1b	T	C	4: 149,322,939 (GRCm39)	D660G	probably damaging	Het
Klf13	T	C	7: 63,541,308 (GRCm39)		probably benign	Het
Klhl41	A	G	2: 69,500,815 (GRCm39)	Y92C	probably damaging	Het
Klrc2	A	T	6: 129,633,420 (GRCm39)	C186S	probably damaging	Het
Lao1	T	A	4: 118,822,433 (GRCm39)		probably null	Het
Lmo7	A	G	14: 102,166,772 (GRCm39)		probably benign	Het
Lyst	A	T	13: 13,812,081 (GRCm39)	Q831L	possibly damaging	Het
Lzts1	A	G	8: 69,591,729 (GRCm39)	S140P	possibly damaging	Het
Mgat5b	T	A	11: 116,864,226 (GRCm39)	V464E	probably damaging	Het
Mrgprb5	G	A	7: 47,817,955 (GRCm39)	T260I	probably benign	Het
Mybpc2	T	C	7: 44,156,477 (GRCm39)	T825A	probably benign	Het
Mycbp2	T	A	14: 103,524,770 (GRCm39)	K597I	probably damaging	Het
Naalad2	G	T	9: 18,246,227 (GRCm39)	N568K	possibly damaging	Het
Neurl1a	A	G	19: 47,167,916 (GRCm39)	N4S	probably benign	Het
Nfx1	T	C	4: 40,984,973 (GRCm39)	W366R	probably null	Het
Nipbl	C	T	15: 8,388,391 (GRCm39)	V410I	probably benign	Het
Nlrp9a	A	T	7: 26,257,993 (GRCm39)	H537L	possibly damaging	Het
Nxpe4	A	G	9: 48,304,050 (GRCm39)	N46D	probably benign	Het
Or14j10	T	A	17: 37,935,323 (GRCm39)	I68F	probably benign	Het
Or4c101	T	A	2: 88,389,849 (GRCm39)	M1K	probably null	Het
Or4f60	A	T	2: 111,902,013 (GRCm39)	M305K	probably benign	Het
Or5ae1	C	A	7: 84,565,327 (GRCm39)	F113L	probably benign	Het
Or5b95	A	T	19: 12,658,336 (GRCm39)	Y288F	probably damaging	Het
Or5p58	A	T	7: 107,694,011 (GRCm39)	Y255*	probably null	Het
Or5p60	A	G	7: 107,723,858 (GRCm39)	F204S	probably benign	Het
Or6c2	A	T	10: 129,362,972 (GRCm39)	N292I	probably damaging	Het
Or6c76b	T	A	10: 129,693,296 (GRCm39)	V303E	probably benign	Het
Or8u10	T	C	2: 85,915,503 (GRCm39)	N206S	probably damaging	Het
P2ry12	A	T	3: 59,125,516 (GRCm39)	M53K	possibly damaging	Het
Pcca	G	A	14: 123,124,481 (GRCm39)	C684Y	probably damaging	Het
Pdzd7	A	G	19: 45,028,619 (GRCm39)	S175P	probably benign	Het
Pgbd1	A	G	13: 21,607,322 (GRCm39)	C291R	probably damaging	Het
Plekhg5	T	C	4: 152,188,797 (GRCm39)	V200A	probably benign	Het
Pola2	A	G	19: 6,011,198 (GRCm39)	V42A	probably benign	Het
Pramel16	C	T	4: 143,675,374 (GRCm39)	G484D	probably benign	Het
Prkcd	C	A	14: 30,329,370 (GRCm39)	K23N	probably benign	Het
Ptdss1	T	C	13: 67,120,604 (GRCm39)	F267L	probably damaging	Het
Rad54l	C	T	4: 115,956,144 (GRCm39)	S561N	probably benign	Het
Rai14	T	A	15: 10,593,137 (GRCm39)	H169L	probably benign	Het
Rfc3	C	T	5: 151,573,444 (GRCm39)	V40I	probably benign	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Rtl1	C	T	12: 109,558,013 (GRCm39)	M1275I	probably benign	Het
Ryr2	C	A	13: 11,610,468 (GRCm39)	E4119D	probably damaging	Het
Senp7	T	C	16: 56,004,512 (GRCm39)		silent	Het
Sfmbt2	A	T	2: 10,573,184 (GRCm39)	I571F	probably damaging	Het
Sit1	T	A	4: 43,483,562 (GRCm39)	T8S	probably benign	Het
Slc22a30	T	C	19: 8,381,980 (GRCm39)	H97R	possibly damaging	Het
Slco1a5	A	C	6: 142,183,320 (GRCm39)		probably null	Het
Smc6	T	A	12: 11,339,995 (GRCm39)	N434K	probably benign	Het
Snap91	G	T	9: 86,672,206 (GRCm39)		probably null	Het
Srsf10	T	C	4: 135,591,131 (GRCm39)	S194P	possibly damaging	Het
St14	T	C	9: 31,017,806 (GRCm39)	M205V	probably benign	Het
Syndig1	A	T	2: 149,741,428 (GRCm39)	I5F	possibly damaging	Het
Tbrg1	T	C	9: 37,560,709 (GRCm39)	D389G	probably benign	Het
Tcaf2	G	A	6: 42,619,707 (GRCm39)	R107C	possibly damaging	Het
Tpmt	T	A	13: 47,182,435 (GRCm39)	D163V	probably benign	Het
Trim15	T	C	17: 37,177,713 (GRCm39)	E94G	probably damaging	Het
Trit1	T	C	4: 122,942,965 (GRCm39)	I279T	probably damaging	Het
Trpm8	T	A	1: 88,287,461 (GRCm39)	F815I	possibly damaging	Het
Ttn	T	A	2: 76,768,867 (GRCm39)	T2856S	probably damaging	Het
Ugdh	A	T	5: 65,574,204 (GRCm39)	D446E	probably benign	Het
Unc5c	C	T	3: 141,383,886 (GRCm39)	A88V	probably damaging	Het
Vmn1r43	T	C	6: 89,847,354 (GRCm39)	N44S	probably damaging	Het
Vmn2r120	T	A	17: 57,831,977 (GRCm39)	M271L	probably benign	Het
Wdr74	T	A	19: 8,715,240 (GRCm39)	V133E	probably damaging	Het
Zfp607b	T	C	7: 27,403,194 (GRCm39)	L550P	probably damaging	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
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'- TTGGAACAGAACCTCTCGCTC -3'
(R):5'- TTACTCCCACATGGAAAGGAAAAG -3'

Sequencing Primer
(F):5'- CCAAGGCTTCTTTTGGTGAGGAAG -3'
(R):5'- AACCCTGGTATTCTGGAAGC -3'

Posted On

2016-11-08