Mutagenetix > Incidental Mutation

Incidental Mutation 'R9526:Man2a1'

719282

Institutional Source

Beutler Lab

Gene Symbol

Man2a1

Ensembl Gene

ENSMUSG00000024085

Gene Name

mannosidase 2, alpha 1

Synonyms

Map-2, Mana-2, Mana2

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.866) question?

Stock #

R9526 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64907731-65062105 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64958310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 275 (K275I)

Ref Sequence

ENSEMBL: ENSMUSP00000083928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086723]

AlphaFold

P27046

Predicted Effect

probably benign
Transcript: ENSMUST00000086723
AA Change: K275I

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000083928
Gene: ENSMUSG00000024085
AA Change: K275I

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
coiled coil region	45	74	N/A	INTRINSIC
Pfam:Glyco_hydro_38	166	496	2.3e-111	PFAM
Alpha-mann_mid	501	587	5.39e-34	SMART
Pfam:Glyco_hydro_38C	648	1144	1.5e-98	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous mutation of this gene results in premature death, dyserythropoiesis, systemic autoimmune disease, including an increase in serum immunoglobulins, glomerulonephritis, and hematuria, [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,230,393 (GRCm39)	L287S	probably damaging	Het
Adgrf1	A	T	17: 43,616,237 (GRCm39)	Q292L	possibly damaging	Het
Arhgap32	A	G	9: 32,172,026 (GRCm39)	D1602G	probably benign	Het
Atrnl1	C	T	19: 57,617,551 (GRCm39)	P109S	probably damaging	Het
Camsap1	G	A	2: 25,843,962 (GRCm39)	H230Y	probably benign	Het
Capns1	C	T	7: 29,891,612 (GRCm39)	C144Y	probably damaging	Het
Ccdc17	G	A	4: 116,455,994 (GRCm39)	V341I	possibly damaging	Het
Cd36	T	C	5: 18,002,033 (GRCm39)	T323A	probably damaging	Het
Cdc14a	CGCTGCTGCTGCTGCTGCTG	CGCTGCTGCTGCTGCTG	3: 116,087,509 (GRCm39)		probably benign	Het
Ckap2l	G	A	2: 129,111,161 (GRCm39)	Q679*	probably null	Het
Clec4g	T	A	8: 3,768,565 (GRCm39)	N93I	probably benign	Het
Cntnap2	T	A	6: 45,992,165 (GRCm39)	L364Q	probably damaging	Het
Cul9	A	G	17: 46,841,026 (GRCm39)	M748T	probably benign	Het
Dnah11	A	T	12: 118,150,711 (GRCm39)	I349N	probably damaging	Het
Dnajc14	T	A	10: 128,642,260 (GRCm39)	Y61N	probably benign	Het
Dock6	A	T	9: 21,713,802 (GRCm39)	Y1909*	probably null	Het
Dock8	T	A	19: 25,165,739 (GRCm39)	D1874E	probably benign	Het
Dpm1	A	G	2: 168,072,210 (GRCm39)	S22P	probably benign	Het
Dysf	T	C	6: 84,128,885 (GRCm39)	L1385P	probably damaging	Het
Egf	T	C	3: 129,491,421 (GRCm39)	T859A	probably benign	Het
Eif2b1	A	T	5: 124,711,867 (GRCm39)	S162T	probably benign	Het
Emilin1	T	C	5: 31,075,484 (GRCm39)	L575P	probably damaging	Het
Erp27	T	A	6: 136,886,550 (GRCm39)	Q161L	probably benign	Het
Fbxw10	C	A	11: 62,765,945 (GRCm39)	D738E	possibly damaging	Het
Fcgbp	T	G	7: 27,790,937 (GRCm39)	C733G	probably damaging	Het
Fgb	T	A	3: 82,957,122 (GRCm39)		probably benign	Het
Gata3os	A	T	2: 9,887,634 (GRCm39)	T12S	unknown	Het
Got1l1	G	T	8: 27,688,503 (GRCm39)	Q283K	probably benign	Het
Grk2	G	A	19: 4,340,871 (GRCm39)	R226C	probably damaging	Het
Hoxa10	T	C	6: 52,211,334 (GRCm39)	D194G	probably benign	Het
Ipcef1	G	A	10: 6,840,620 (GRCm39)	T363I	probably damaging	Het
Itga10	C	A	3: 96,564,273 (GRCm39)	T922N	probably damaging	Het
Itgad	T	C	7: 127,777,552 (GRCm39)	I144T	probably benign	Het
Kat6b	C	A	14: 21,567,564 (GRCm39)	Q208K	possibly damaging	Het
Kidins220	T	G	12: 25,088,383 (GRCm39)	L1042R	probably damaging	Het
Kmt2c	T	C	5: 25,486,355 (GRCm39)	S4733G	probably damaging	Het
Lrig3	A	G	10: 125,850,736 (GRCm39)	I1101V	probably benign	Het
Lrp1	T	A	10: 127,431,229 (GRCm39)	N311I	probably damaging	Het
Map3k10	T	A	7: 27,364,434 (GRCm39)	N318I	probably damaging	Het
Map3k8	G	A	18: 4,333,869 (GRCm39)	R408W	probably damaging	Het
Mast1	A	G	8: 85,647,805 (GRCm39)	M523T	probably damaging	Het
Mast4	T	C	13: 102,873,593 (GRCm39)	H1925R	probably benign	Het
Med12l	C	T	3: 58,984,207 (GRCm39)	S461L	probably damaging	Het
Mfap1a	T	C	2: 121,333,237 (GRCm39)	K65E	probably damaging	Het
Mical1	T	C	10: 41,358,602 (GRCm39)	S507P	probably benign	Het
Miga2	T	C	2: 30,268,400 (GRCm39)	V433A	unknown	Het
Mpdz	T	C	4: 81,274,653 (GRCm39)	T848A	probably benign	Het
Mycn	A	G	12: 12,989,778 (GRCm39)	V206A	probably benign	Het
Ndst1	G	A	18: 60,838,220 (GRCm39)	Q342*	probably null	Het
Nectin1	A	G	9: 43,702,369 (GRCm39)	M39V	probably benign	Het
Nectin4	A	T	1: 171,210,209 (GRCm39)	R234*	probably null	Het
Ngb	C	G	12: 87,145,317 (GRCm39)	V113L	possibly damaging	Het
Nphp3	T	A	9: 103,913,337 (GRCm39)	Y990N	probably damaging	Het
Nrdc	T	C	4: 108,915,833 (GRCm39)		probably null	Het
Or10a2	A	T	7: 106,673,739 (GRCm39)	K235*	probably null	Het
Or1e23	T	A	11: 73,407,351 (GRCm39)	I225F	probably damaging	Het
Or5p60	T	A	7: 107,723,801 (GRCm39)	Y223F	probably benign	Het
Osbpl6	A	G	2: 76,415,603 (GRCm39)	Y655C	probably damaging	Het
Pcdhgb4	A	G	18: 37,855,882 (GRCm39)	Q759R	probably benign	Het
Pcsk4	T	C	10: 80,161,800 (GRCm39)	D164G	probably damaging	Het
Pde4d	T	A	13: 110,071,915 (GRCm39)	I303N	probably damaging	Het
Pdf	T	A	8: 107,774,972 (GRCm39)	M87L	probably benign	Het
Pigb	A	G	9: 72,941,840 (GRCm39)	S140P	probably damaging	Het
Plch1	T	A	3: 63,758,549 (GRCm39)		probably benign	Het
Plxna1	G	T	6: 89,319,633 (GRCm39)	D557E	probably benign	Het
Polr2e	C	T	10: 79,872,792 (GRCm39)	V149M	probably benign	Het
Polr3a	A	T	14: 24,503,313 (GRCm39)	C1174S	probably benign	Het
Prb1c	T	A	6: 132,338,891 (GRCm39)	N109I	unknown	Het
Psmd2	T	A	16: 20,474,369 (GRCm39)	S308R	probably benign	Het
Ptger1	T	A	8: 84,396,002 (GRCm39)	V353E	probably damaging	Het
Ptprc	A	G	1: 137,996,111 (GRCm39)	M940T	probably benign	Het
Pus7l	T	C	15: 94,425,781 (GRCm39)	N540S	probably damaging	Het
Rap1gds1	T	A	3: 138,756,317 (GRCm39)	I13L	probably benign	Het
Rasl10b	A	T	11: 83,303,590 (GRCm39)	N49I	probably damaging	Het
Rftn1	A	T	17: 50,301,237 (GRCm39)	N537K	probably benign	Het
Rnase4	A	G	14: 51,342,645 (GRCm39)	Y123C	probably damaging	Het
Rnf181	A	C	6: 72,338,302 (GRCm39)	N26K	probably benign	Het
Rnf31	G	A	14: 55,836,269 (GRCm39)		probably null	Het
Rpusd3	C	G	6: 113,393,200 (GRCm39)	C304S	unknown	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Ryr3	C	A	2: 112,664,270 (GRCm39)	V1694L	probably benign	Het
Sanbr	T	C	11: 23,559,098 (GRCm39)	Y372C	probably damaging	Het
Sephs2	T	C	7: 126,872,346 (GRCm39)	D249G	probably damaging	Het
Serpina10	A	G	12: 103,583,217 (GRCm39)	I409T	probably damaging	Het
Serpina5	C	T	12: 104,069,403 (GRCm39)	A205V	probably damaging	Het
Sfr1	T	A	19: 47,723,453 (GRCm39)	V319E	probably damaging	Het
Skil	T	A	3: 31,171,639 (GRCm39)	Y542N	probably benign	Het
Slc15a5	T	C	6: 138,049,954 (GRCm39)	T154A	probably benign	Het
Slc27a2	T	A	2: 126,429,846 (GRCm39)	L618Q	probably damaging	Het
Slc6a6	A	T	6: 91,726,808 (GRCm39)	Y483F	probably benign	Het
Sprr1b	T	C	3: 92,344,443 (GRCm39)	I144M	probably benign	Het
Stat5a	T	A	11: 100,771,161 (GRCm39)	V580E		Het
Tnk1	C	T	11: 69,746,011 (GRCm39)	D305N	probably damaging	Het
Tox2	A	G	2: 163,164,930 (GRCm39)	*523W	probably null	Het
Trav12-2	A	G	14: 53,854,085 (GRCm39)	N20D	probably benign	Het
Trav16	T	A	14: 53,981,046 (GRCm39)	N78K	probably damaging	Het
Trf	C	T	9: 103,104,130 (GRCm39)	A78T	probably damaging	Het
Ttn	A	G	2: 76,711,543 (GRCm39)		probably benign	Het
Vmn2r67	T	A	7: 84,785,834 (GRCm39)	M724L	probably benign	Het
Vmn2r94	A	T	17: 18,477,261 (GRCm39)	F383L	probably benign	Het
Vwa2	T	C	19: 56,895,208 (GRCm39)	S461P	probably benign	Het
Zfp991	G	A	4: 147,264,327 (GRCm39)	G568E	probably damaging	Het
Zfpl1	A	G	19: 6,134,440 (GRCm39)	F15S	probably damaging	Het

Other mutations in Man2a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01390:Man2a1	APN	17	65,017,700 (GRCm39)	missense	probably benign	0.00
IGL01823:Man2a1	APN	17	64,973,819 (GRCm39)	missense	probably damaging	0.99
IGL02012:Man2a1	APN	17	64,973,894 (GRCm39)	missense	probably damaging	0.98
IGL02589:Man2a1	APN	17	64,986,773 (GRCm39)	missense	probably benign	0.01
IGL03248:Man2a1	APN	17	65,020,606 (GRCm39)	missense	probably damaging	1.00
R0070:Man2a1	UTSW	17	64,966,074 (GRCm39)	splice site	probably null
R0092:Man2a1	UTSW	17	64,966,079 (GRCm39)	splice site	probably benign
R1347:Man2a1	UTSW	17	65,019,445 (GRCm39)	missense	probably damaging	0.98
R1347:Man2a1	UTSW	17	65,019,445 (GRCm39)	missense	probably damaging	0.98
R1376:Man2a1	UTSW	17	64,979,038 (GRCm39)	missense	possibly damaging	0.50
R1376:Man2a1	UTSW	17	64,979,038 (GRCm39)	missense	possibly damaging	0.50
R1599:Man2a1	UTSW	17	64,986,826 (GRCm39)	missense	possibly damaging	0.80
R1799:Man2a1	UTSW	17	65,059,452 (GRCm39)	missense	probably benign	0.12
R1799:Man2a1	UTSW	17	64,976,492 (GRCm39)	missense	probably damaging	1.00
R1822:Man2a1	UTSW	17	65,047,837 (GRCm39)	missense	probably damaging	1.00
R1958:Man2a1	UTSW	17	65,057,830 (GRCm39)	missense	probably benign	0.00
R2852:Man2a1	UTSW	17	65,020,596 (GRCm39)	missense	probably benign	0.00
R4324:Man2a1	UTSW	17	64,973,788 (GRCm39)	missense	probably benign	0.00
R4582:Man2a1	UTSW	17	65,059,494 (GRCm39)	missense	probably benign	0.00
R4610:Man2a1	UTSW	17	65,019,454 (GRCm39)	missense	probably benign
R4803:Man2a1	UTSW	17	64,966,004 (GRCm39)	missense	probably damaging	1.00
R5072:Man2a1	UTSW	17	64,966,074 (GRCm39)	splice site	probably null
R5109:Man2a1	UTSW	17	65,059,443 (GRCm39)	missense	probably benign	0.31
R5223:Man2a1	UTSW	17	65,019,266 (GRCm39)	missense	probably benign	0.17
R5229:Man2a1	UTSW	17	65,017,729 (GRCm39)	missense	probably benign	0.00
R5238:Man2a1	UTSW	17	64,943,502 (GRCm39)	missense	probably damaging	1.00
R5273:Man2a1	UTSW	17	65,040,780 (GRCm39)	missense	probably damaging	1.00
R5289:Man2a1	UTSW	17	64,958,222 (GRCm39)	missense	probably damaging	0.99
R5352:Man2a1	UTSW	17	65,038,241 (GRCm39)	missense	probably damaging	1.00
R5428:Man2a1	UTSW	17	65,019,295 (GRCm39)	missense	probably benign	0.00
R5898:Man2a1	UTSW	17	64,932,375 (GRCm39)	missense	probably benign	0.01
R5942:Man2a1	UTSW	17	64,932,375 (GRCm39)	missense	probably benign	0.01
R5943:Man2a1	UTSW	17	64,932,375 (GRCm39)	missense	probably benign	0.01
R5963:Man2a1	UTSW	17	64,982,117 (GRCm39)	missense	probably benign
R5969:Man2a1	UTSW	17	64,932,375 (GRCm39)	missense	probably benign	0.01
R5970:Man2a1	UTSW	17	64,932,375 (GRCm39)	missense	probably benign	0.01
R6164:Man2a1	UTSW	17	65,040,719 (GRCm39)	missense	possibly damaging	0.87
R6207:Man2a1	UTSW	17	65,020,600 (GRCm39)	missense	probably benign	0.02
R6245:Man2a1	UTSW	17	65,017,821 (GRCm39)	missense	probably damaging	0.97
R6724:Man2a1	UTSW	17	65,038,264 (GRCm39)	missense	possibly damaging	0.91
R6759:Man2a1	UTSW	17	64,932,383 (GRCm39)	missense	probably benign	0.00
R6778:Man2a1	UTSW	17	65,021,630 (GRCm39)	missense	possibly damaging	0.69
R7250:Man2a1	UTSW	17	64,943,583 (GRCm39)	missense	probably benign	0.00
R7354:Man2a1	UTSW	17	65,059,539 (GRCm39)	missense	probably damaging	1.00
R7833:Man2a1	UTSW	17	64,973,746 (GRCm39)	missense	probably damaging	0.99
R7991:Man2a1	UTSW	17	64,908,771 (GRCm39)	missense	probably benign	0.28
R8489:Man2a1	UTSW	17	64,908,765 (GRCm39)	missense	possibly damaging	0.64
R8540:Man2a1	UTSW	17	64,965,982 (GRCm39)	missense	probably benign
R8894:Man2a1	UTSW	17	65,020,596 (GRCm39)	missense	probably benign	0.00
R9447:Man2a1	UTSW	17	64,966,001 (GRCm39)	missense	possibly damaging	0.88
R9488:Man2a1	UTSW	17	65,040,734 (GRCm39)	missense	possibly damaging	0.80
R9608:Man2a1	UTSW	17	65,041,953 (GRCm39)	missense	probably damaging	1.00
R9666:Man2a1	UTSW	17	64,943,557 (GRCm39)	missense	possibly damaging	0.78
RF007:Man2a1	UTSW	17	65,019,248 (GRCm39)	missense	probably damaging	0.98
Z1177:Man2a1	UTSW	17	65,042,049 (GRCm39)	missense	probably benign
Z1177:Man2a1	UTSW	17	64,966,015 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGGCCTGCAGTTGAAATTC -3'
(R):5'- GACTCTTAGCAACAAGTCTTAGC -3'

Sequencing Primer
(F):5'- GGCCTGCAGTTGAAATTCAATGAC -3'
(R):5'- AGCAACAAGTCTTAGCTAACATG -3'

Posted On

2022-07-18