Mutagenetix > Incidental Mutation

Incidental Mutation 'R6164:Man2a1'

490074

Institutional Source

Beutler Lab

Gene Symbol

Man2a1

Ensembl Gene

ENSMUSG00000024085

Gene Name

mannosidase 2, alpha 1

Synonyms

Mana2, Map-2, Mana-2

MMRRC Submission

044310-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.870) question?

Stock #

R6164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64600736-64755110 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64733724 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 106 (I106V)

Ref Sequence

ENSEMBL: ENSMUSP00000130529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086723] [ENSMUST00000169668]

AlphaFold

P27046

Predicted Effect

probably benign
Transcript: ENSMUST00000086723
AA Change: I902V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000083928
Gene: ENSMUSG00000024085
AA Change: I902V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169668
AA Change: I106V

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130529
Gene: ENSMUSG00000024085
AA Change: I106V

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_38C	1	268	1.6e-50	PFAM

Meta Mutation Damage Score

0.1498

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

98% (61/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030419C18Rik	C	A	9: 58,499,247	P147T	probably damaging	Het
Anpep	A	G	7: 79,842,205	I16T	possibly damaging	Het
Ap1s1	T	C	5: 137,037,386		probably benign	Het
Atp1a2	T	C	1: 172,278,892	S848G	probably damaging	Het
Bche	T	A	3: 73,701,056	I346F	possibly damaging	Het
Ccdc148	T	A	2: 58,823,633	Y502F	probably damaging	Het
Ccdc88c	T	C	12: 100,953,383	M416V	probably damaging	Het
Cdk17	T	C	10: 93,235,469	S351P	probably benign	Het
Cfap100	T	C	6: 90,415,786	E114G	probably benign	Het
Clec4a4	T	C	6: 122,991,874	I66T	possibly damaging	Het
Cpeb4	T	C	11: 31,920,584		probably null	Het
Cybrd1	T	C	2: 71,118,274	V52A	probably damaging	Het
Decr1	G	A	4: 15,924,347	A191V	probably benign	Het
Dnah5	A	T	15: 28,378,343	I2942L	probably benign	Het
Ehd4	C	T	2: 120,102,208	V246I	possibly damaging	Het
Ercc6l2	A	G	13: 63,872,344		probably benign	Het
Exoc4	T	A	6: 33,332,283	M280K	probably damaging	Het
Fam122a	T	A	19: 24,477,086	M91L	probably benign	Het
Fam71e2	T	C	7: 4,770,678	T73A	probably damaging	Het
Fmo1	T	G	1: 162,851,410	E89A	probably benign	Het
Foxm1	A	G	6: 128,373,935	D733G	probably benign	Het
Gm10093	T	C	17: 78,492,287	S236P	probably damaging	Het
Gulp1	A	C	1: 44,754,351	R57S	probably damaging	Het
Hdac4	G	T	1: 92,030,154	A46E	probably benign	Het
Hspg2	T	C	4: 137,514,655	S567P	possibly damaging	Het
Iqgap1	A	C	7: 80,809,106	C21W	unknown	Het
Isoc2a	T	C	7: 4,891,489	L57P	probably damaging	Het
Krt34	G	A	11: 100,038,446	Q313*	probably null	Het
Krt6a	C	T	15: 101,692,573	V263I	probably damaging	Het
Muc16	T	C	9: 18,558,379	D7300G	probably damaging	Het
Muc5b	A	T	7: 141,863,345	S3343C	possibly damaging	Het
Mup11	C	T	4: 60,662,240	E21K	possibly damaging	Het
Myo3b	T	A	2: 70,245,410		probably null	Het
Nlrp4c	T	C	7: 6,092,508	L795P	probably damaging	Het
Nup160	T	A	2: 90,717,876	Y984*	probably null	Het
Nwd1	C	T	8: 72,662,186	R81W	probably damaging	Het
Olfr472	A	G	7: 107,903,388	T224A	probably benign	Het
Olfr707	G	T	7: 106,891,928	Y60*	probably null	Het
Osmr	A	G	15: 6,860,352	V5A	probably benign	Het
Pcsk5	A	G	19: 17,836,953		probably null	Het
Pex11a	G	A	7: 79,737,379	T235M	probably damaging	Het
Pik3r6	A	G	11: 68,551,973	T730A	probably benign	Het
Ppp1r9a	C	T	6: 5,110,715		probably benign	Het
Ppp2r2d	T	C	7: 138,873,013	I41T	probably damaging	Het
Prdm1	C	T	10: 44,450,195	R126H	probably damaging	Het
Primpol	C	T	8: 46,586,442	R381H	probably benign	Het
Prl7a1	C	A	13: 27,637,643	Q102H	probably benign	Het
Rbpjl	T	C	2: 164,410,879	L284P	probably damaging	Het
Rgs21	A	T	1: 144,541,297	C6S	probably benign	Het
Rnasel	T	C	1: 153,754,392	V218A	probably benign	Het
Sag	G	T	1: 87,824,453	V223L	probably damaging	Het
Sdk1	C	T	5: 142,132,069	T1574M	probably damaging	Het
Secisbp2	G	A	13: 51,679,860	V679M	probably damaging	Het
Sele	T	A	1: 164,051,817		probably null	Het
Senp7	T	A	16: 56,169,754	L622M	probably damaging	Het
Sgo1	G	A	17: 53,676,953	R466C	probably damaging	Het
Sh3tc1	C	A	5: 35,706,246	V866L	probably benign	Het
Snrnp25	T	A	11: 32,207,647	V75D	probably benign	Het
Syne1	C	T	10: 5,061,429	C7899Y	probably damaging	Het
U2af1l4	T	C	7: 30,564,582	S55P	probably damaging	Het
Vmn1r23	A	G	6: 57,926,055	I246T	possibly damaging	Het
Vmn1r66	T	A	7: 10,274,402	R235*	probably null	Het
Wnk4	C	T	11: 101,275,068	A807V	possibly damaging	Het

Other mutations in Man2a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01390:Man2a1	APN	17	64710705	missense	probably benign	0.00
IGL01823:Man2a1	APN	17	64666824	missense	probably damaging	0.99
IGL02012:Man2a1	APN	17	64666899	missense	probably damaging	0.98
IGL02589:Man2a1	APN	17	64679778	missense	probably benign	0.01
IGL03248:Man2a1	APN	17	64713611	missense	probably damaging	1.00
R0070:Man2a1	UTSW	17	64659079	splice site	probably null
R0092:Man2a1	UTSW	17	64659084	splice site	probably benign
R1347:Man2a1	UTSW	17	64712450	missense	probably damaging	0.98
R1347:Man2a1	UTSW	17	64712450	missense	probably damaging	0.98
R1376:Man2a1	UTSW	17	64672043	missense	possibly damaging	0.50
R1376:Man2a1	UTSW	17	64672043	missense	possibly damaging	0.50
R1599:Man2a1	UTSW	17	64679831	missense	possibly damaging	0.80
R1799:Man2a1	UTSW	17	64669497	missense	probably damaging	1.00
R1799:Man2a1	UTSW	17	64752457	missense	probably benign	0.12
R1822:Man2a1	UTSW	17	64740842	missense	probably damaging	1.00
R1958:Man2a1	UTSW	17	64750835	missense	probably benign	0.00
R2852:Man2a1	UTSW	17	64713601	missense	probably benign	0.00
R4324:Man2a1	UTSW	17	64666793	missense	probably benign	0.00
R4582:Man2a1	UTSW	17	64752499	missense	probably benign	0.00
R4610:Man2a1	UTSW	17	64712459	missense	probably benign
R4803:Man2a1	UTSW	17	64659009	missense	probably damaging	1.00
R5072:Man2a1	UTSW	17	64659079	splice site	probably null
R5109:Man2a1	UTSW	17	64752448	missense	probably benign	0.31
R5223:Man2a1	UTSW	17	64712271	missense	probably benign	0.17
R5229:Man2a1	UTSW	17	64710734	missense	probably benign	0.00
R5238:Man2a1	UTSW	17	64636507	missense	probably damaging	1.00
R5273:Man2a1	UTSW	17	64733785	missense	probably damaging	1.00
R5289:Man2a1	UTSW	17	64651227	missense	probably damaging	0.99
R5352:Man2a1	UTSW	17	64731246	missense	probably damaging	1.00
R5428:Man2a1	UTSW	17	64712300	missense	probably benign	0.00
R5898:Man2a1	UTSW	17	64625380	missense	probably benign	0.01
R5942:Man2a1	UTSW	17	64625380	missense	probably benign	0.01
R5943:Man2a1	UTSW	17	64625380	missense	probably benign	0.01
R5963:Man2a1	UTSW	17	64675122	missense	probably benign
R5969:Man2a1	UTSW	17	64625380	missense	probably benign	0.01
R5970:Man2a1	UTSW	17	64625380	missense	probably benign	0.01
R6207:Man2a1	UTSW	17	64713605	missense	probably benign	0.02
R6245:Man2a1	UTSW	17	64710826	missense	probably damaging	0.97
R6724:Man2a1	UTSW	17	64731269	missense	possibly damaging	0.91
R6759:Man2a1	UTSW	17	64625388	missense	probably benign	0.00
R6778:Man2a1	UTSW	17	64714635	missense	possibly damaging	0.69
R7250:Man2a1	UTSW	17	64636588	missense	probably benign	0.00
R7354:Man2a1	UTSW	17	64752544	missense	probably damaging	1.00
R7833:Man2a1	UTSW	17	64666751	missense	probably damaging	0.99
R7991:Man2a1	UTSW	17	64601776	missense	probably benign	0.28
R8489:Man2a1	UTSW	17	64601770	missense	possibly damaging	0.64
R8540:Man2a1	UTSW	17	64658987	missense	probably benign
R8894:Man2a1	UTSW	17	64713601	missense	probably benign	0.00
R9447:Man2a1	UTSW	17	64659006	missense	possibly damaging	0.88
R9488:Man2a1	UTSW	17	64733739	missense	possibly damaging	0.80
R9526:Man2a1	UTSW	17	64651315	missense	probably benign	0.23
R9608:Man2a1	UTSW	17	64734958	missense	probably damaging	1.00
R9666:Man2a1	UTSW	17	64636562	missense	possibly damaging	0.78
RF007:Man2a1	UTSW	17	64712253	missense	probably damaging	0.98
Z1177:Man2a1	UTSW	17	64659020	missense	probably damaging	1.00
Z1177:Man2a1	UTSW	17	64735054	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAATTGTCTTCTGAGGGCCTTG -3'
(R):5'- CAGAAATGCTATGTAGTTCGAACTG -3'

Sequencing Primer
(F):5'- CCTTGTGGTTTCTCTGCATATG -3'
(R):5'- TCGAACTGCGAGCTTTCG -3'

Posted On

2017-10-10