Mutagenetix > Incidental Mutation

Incidental Mutation 'R5352:Man2a1'

423876

Institutional Source

Beutler Lab

Gene Symbol

Man2a1

Ensembl Gene

ENSMUSG00000024085

Gene Name

mannosidase 2, alpha 1

Synonyms

Mana2, Map-2, Mana-2

MMRRC Submission

042931-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.870) question?

Stock #

R5352 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64600736-64755110 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64731246 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 75 (I75T)

Ref Sequence

ENSEMBL: ENSMUSP00000130529 (fasta)

Gene Model

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

AlphaFold

P27046

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086723
AA Change: I871T

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083928
Gene: ENSMUSG00000024085
AA Change: I871T

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

probably damaging
Transcript: ENSMUST00000169668
AA Change: I75T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130529
Gene: ENSMUSG00000024085
AA Change: I75T

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

Meta Mutation Damage Score

0.4413

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (66/66)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	T	G	16: 14,618,701	L206*	probably null	Het
Adgrv1	T	C	13: 81,494,657	Y3218C	probably damaging	Het
Agtpbp1	G	A	13: 59,473,746	T41M	probably damaging	Het
Akap6	A	T	12: 52,796,097	E76V	probably damaging	Het
Ank2	C	A	3: 127,498,991		probably benign	Het
Atp6ap1l	A	C	13: 90,883,756	L269R	probably damaging	Het
Blk	A	G	14: 63,375,971	S363P	probably damaging	Het
Btnl9	T	C	11: 49,178,840	N204S	probably benign	Het
Cc2d2a	G	T	5: 43,706,213	W672C	probably damaging	Het
Ccnf	A	G	17: 24,243,273		probably null	Het
Cdc45	C	T	16: 18,795,897	R205H	probably damaging	Het
Chst1	A	G	2: 92,613,365	T61A	possibly damaging	Het
Col6a4	G	A	9: 106,061,544	T1325I	probably damaging	Het
Col7a1	A	C	9: 108,961,411	T976P	unknown	Het
Corin	C	T	5: 72,305,033	S811N	probably benign	Het
Dnal1	T	C	12: 84,136,548	V27A	possibly damaging	Het
Dupd1	G	A	14: 21,677,023	R186W	probably benign	Het
F830045P16Rik	T	A	2: 129,472,901	H152L	probably damaging	Het
Flnc	A	G	6: 29,449,318	S1405G	possibly damaging	Het
Foxj1	T	C	11: 116,334,079	N154S	possibly damaging	Het
Gm12183	T	C	11: 48,752,162		noncoding transcript	Het
Gm27047	G	A	6: 130,631,019		noncoding transcript	Het
Grm5	A	G	7: 88,074,850	I783V	probably damaging	Het
Hk1	A	T	10: 62,304,770	S113T	probably damaging	Het
Iqca	A	T	1: 90,130,196	N260K	probably benign	Het
Iws1	A	T	18: 32,083,404	K399M	probably damaging	Het
Kdm4d	A	G	9: 14,464,358	I68T	probably damaging	Het
Med13	T	A	11: 86,301,468	I824L	possibly damaging	Het
Meioc	A	T	11: 102,675,313	E585V	probably benign	Het
Mrgpre	A	C	7: 143,781,094	F224C	probably damaging	Het
Muc5b	T	A	7: 141,864,558	F3747Y	possibly damaging	Het
Nlrp4e	T	C	7: 23,353,173	V839A	probably benign	Het
Nup210	A	T	6: 91,069,316	V545E	probably damaging	Het
Ola1	T	C	2: 73,099,330	T310A	probably damaging	Het
Pdxdc1	T	C	16: 13,840,311	N516S	probably benign	Het
Phlpp1	A	G	1: 106,172,725	D241G	probably benign	Het
Ppp1r36	T	C	12: 76,428,083	V85A	probably damaging	Het
Rasa3	A	C	8: 13,631,778	L57R	possibly damaging	Het
Rp1	T	C	1: 4,347,098	S1264G	probably benign	Het
Rprd1b	A	G	2: 158,058,736	E247G	probably damaging	Het
Sag	G	T	1: 87,812,993	V46L	probably benign	Het
Sat2	A	T	11: 69,622,315	I17F	probably damaging	Het
Slc39a6	A	T	18: 24,601,036	Y199N	probably benign	Het
Slc9a3r2	C	T	17: 24,642,255	R66H	probably damaging	Het
Snx2	A	G	18: 53,197,925		probably null	Het
Thbs4	T	C	13: 92,763,590	D466G	probably damaging	Het
Tmem208	A	G	8: 105,328,431	D91G	probably damaging	Het
Tmf1	A	G	6: 97,176,809	L101P	probably damaging	Het
Tnni1	A	G	1: 135,805,592	T51A	probably benign	Het
Tor3a	T	G	1: 156,674,193	E38A	probably damaging	Het
Trim31	T	A	17: 36,899,918	D147E	possibly damaging	Het
Uhrf1bp1	G	A	17: 27,887,515	S1005N	probably benign	Het
Vmn1r48	G	T	6: 90,036,147	A232E	probably benign	Het
Vmn1r89	T	G	7: 13,219,357	F7V	probably benign	Het
Zfp160	A	G	17: 21,026,852	T555A	probably benign	Het
Zfp981	C	A	4: 146,537,005	T129K	probably benign	Het
Zfpm2	T	A	15: 40,870,542	F106I	probably benign	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
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
R6164:Man2a1	UTSW	17	64733724	missense	possibly damaging	0.87
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'- GTTGCACCATTTCATATGTGAGAG -3'
(R):5'- CAACTGGTAAGACTGTCTTGATTC -3'

Sequencing Primer
(F):5'- TCATATGTGAGAGATGGTTAAGAGTC -3'
(R):5'- AATTAACTGGGCAATTATCCTGC -3'

Posted On

2016-08-04