Mutagenetix > Incidental Mutation

Incidental Mutation 'R1347:Man2a1'

186179

Institutional Source

Beutler Lab

Gene Symbol

Man2a1

Ensembl Gene

ENSMUSG00000024085

Gene Name

mannosidase 2, alpha 1

Synonyms

Map-2, Mana-2, Mana2

MMRRC Submission

039412-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.866) question?

Stock #

R1347 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64907731-65062105 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65019445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 770 (F770L)

Ref Sequence

ENSEMBL: ENSMUSP00000083928 (fasta)

Gene Model

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

AlphaFold

P27046

Predicted Effect

probably damaging
Transcript: ENSMUST00000086723
AA Change: F770L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083928
Gene: ENSMUSG00000024085
AA Change: F770L

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

noncoding transcript
Transcript: ENSMUST00000169239

Predicted Effect

probably benign
Transcript: ENSMUST00000169668

SMART Domains

Protein: ENSMUSP00000130529
Gene: ENSMUSG00000024085

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak5	G	T	3: 152,239,071 (GRCm39)	D301E	probably damaging	Het
Arpc1a	G	T	5: 145,034,082 (GRCm39)	W150L	probably damaging	Het
Filip1l	A	G	16: 57,391,350 (GRCm39)	D646G	probably damaging	Het
Foxa1	A	T	12: 57,589,070 (GRCm39)	H383Q	probably damaging	Het
Fpr-rs6	T	C	17: 20,403,011 (GRCm39)	T117A	probably benign	Het
Fry	A	T	5: 150,419,283 (GRCm39)	E905V	probably damaging	Het
Furin	C	T	7: 80,041,932 (GRCm39)		probably benign	Het
Glyr1	T	C	16: 4,839,203 (GRCm39)	D338G	probably damaging	Het
Gpd2	A	T	2: 57,247,683 (GRCm39)	K542M	probably damaging	Het
Itpr3	T	C	17: 27,330,535 (GRCm39)	F1679L	probably benign	Het
Kif23	A	G	9: 61,834,438 (GRCm39)	M427T	probably damaging	Het
Kpna1	T	A	16: 35,829,696 (GRCm39)	I83N	probably benign	Het
Mrpl44	T	A	1: 79,755,669 (GRCm39)	F92I	probably damaging	Het
Myh4	A	G	11: 67,135,567 (GRCm39)		probably benign	Het
Or2a56	A	C	6: 42,932,639 (GRCm39)	D69A	probably damaging	Het
Or5b105	T	C	19: 13,080,054 (GRCm39)	I199V	probably benign	Het
Rbm15	G	T	3: 107,239,946 (GRCm39)	R151S	possibly damaging	Het
Rims3	G	A	4: 120,740,322 (GRCm39)	G90S	probably damaging	Het
Rock2	G	A	12: 17,027,625 (GRCm39)	C1314Y	possibly damaging	Het
Serpinb6e	C	T	13: 34,025,180 (GRCm39)	C37Y	possibly damaging	Het
Spata31d1c	C	T	13: 65,183,202 (GRCm39)	T248I	probably benign	Het
Tbx15	C	A	3: 99,259,427 (GRCm39)	Q433K	possibly damaging	Het
Vmn1r11	G	A	6: 57,114,963 (GRCm39)	C209Y	probably benign	Het
Zfhx3	T	C	8: 109,527,330 (GRCm39)		probably benign	Het
Zim1	C	A	7: 6,680,430 (GRCm39)	C411F	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
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
R9526:Man2a1	UTSW	17	64,958,310 (GRCm39)	missense	probably benign	0.23
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'- AGCTCATATACCACCACTGGGACTG -3'
(R):5'- ACCTCACTTTGCATGATAGCCGAC -3'

Sequencing Primer
(F):5'- TTCAAGCTCACACTTGGCTG -3'
(R):5'- TTGCATGATAGCCGACAGGTC -3'

Posted On

2014-05-09