Mutagenetix > Incidental Mutations

Incidental Mutation 'R0266:Man1a2'

34906

Institutional Source

Beutler Lab

Gene Symbol

Man1a2

Ensembl Gene

ENSMUSG00000008763

Gene Name

mannosidase, alpha, class 1A, member 2

Synonyms

Man1b

MMRRC Submission

038492-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0266 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100562208-100685503 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100582034 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 543 (R543Q)

Ref Sequence

ENSEMBL: ENSMUSP00000008907 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008907]

Predicted Effect

probably damaging
Transcript: ENSMUST00000008907
AA Change: R543Q

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

SMART Domains

Protein: ENSMUSP00000008907
Gene: ENSMUSG00000008763
AA Change: R543Q

Domain	Start	End	E-Value	Type
transmembrane domain	37	56	N/A	INTRINSIC
coiled coil region	101	153	N/A	INTRINSIC
low complexity region	155	170	N/A	INTRINSIC
Pfam:Glyco_hydro_47	187	626	2.8e-156	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197836

Meta Mutation Damage Score

0.4654

Coding Region Coverage

1x: 98.3%
3x: 97.2%
10x: 94.9%
20x: 89.8%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutation of this gene results in respiratory distress and death within a few hours after birth. Lung development is delayed, the alveolar septum is thickened, and hemorrhage occurs in the alveolar region. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	A	G	12: 110,668,754	S117P	possibly damaging	Het
Aars2	T	C	17: 45,507,510		probably benign	Het
Acot11	T	C	4: 106,749,988	D466G	probably damaging	Het
Adgrd1	G	A	5: 129,139,594	A342T	probably benign	Het
Apbb2	A	T	5: 66,302,611	N714K	probably benign	Het
Aqp12	C	A	1: 93,006,850	H150N	possibly damaging	Het
Brinp3	T	A	1: 146,682,680	L114*	probably null	Het
Ccng2	T	C	5: 93,271,289		probably benign	Het
Cd36	T	A	5: 17,798,252	R265S	probably benign	Het
Ces4a	T	C	8: 105,141,966	L104S	probably benign	Het
Clca4b	T	C	3: 144,922,786	I387V	probably damaging	Het
Cul7	T	A	17: 46,654,595	H566Q	probably benign	Het
Ddx60	A	T	8: 62,033,493	H1646L	possibly damaging	Het
Dntt	T	C	19: 41,059,127	I503T	probably damaging	Het
Dynlt1a	T	G	17: 6,317,395	E2D	probably benign	Het
Efemp2	G	T	19: 5,477,999	C78F	probably damaging	Het
Esco1	T	C	18: 10,594,605	E227G	probably benign	Het
Fezf2	T	A	14: 12,342,607	K419N	probably damaging	Het
Gm17541	A	T	12: 4,689,487		probably benign	Het
Gm2381	G	A	7: 42,819,948	Q251*	probably null	Het
Gm4782	T	G	6: 50,610,694	S686R	probably damaging	Het
Grin3a	G	A	4: 49,665,501	R1045*	probably null	Het
Grm8	T	C	6: 27,285,896	Y839C	probably damaging	Het
Gtf3c1	G	A	7: 125,644,134	P1766L	possibly damaging	Het
Herc2	T	A	7: 56,206,578	H3921Q	probably damaging	Het
Hes6	A	T	1: 91,412,304	D143E	possibly damaging	Het
Hmcn2	A	G	2: 31,394,827	E2055G	probably benign	Het
Hmcn2	G	A	2: 31,445,353		probably benign	Het
Ikzf3	A	G	11: 98,467,317	L398P	probably benign	Het
Il10ra	A	T	9: 45,265,652	I125N	probably benign	Het
Kcnb2	G	A	1: 15,712,913		probably benign	Het
Krt77	T	C	15: 101,869,378	R81G	possibly damaging	Het
Lrrc40	T	A	3: 158,041,661		probably null	Het
Mansc1	T	C	6: 134,610,707	D169G	probably benign	Het
Mdn1	T	A	4: 32,741,835	S3869T	probably damaging	Het
Mettl14	A	T	3: 123,382,826	S58T	probably benign	Het
Mrpl4	T	C	9: 21,003,314	V62A	probably benign	Het
Myh3	A	G	11: 67,093,672	D1085G	possibly damaging	Het
Myo5c	C	A	9: 75,284,216		probably benign	Het
Naalad2	G	T	9: 18,350,943		probably benign	Het
Nat3	A	G	8: 67,547,780	T104A	probably benign	Het
Nek4	A	G	14: 30,957,296	E198G	probably damaging	Het
Olfm1	A	G	2: 28,229,607	Y403C	probably damaging	Het
Olfr1131	C	A	2: 87,629,282	T273K	possibly damaging	Het
Olfr873	A	T	9: 20,301,158	R320S	probably benign	Het
Osbpl1a	T	A	18: 12,871,163		probably null	Het
Pax7	G	A	4: 139,779,736	S330L	possibly damaging	Het
Pcdhb15	C	A	18: 37,475,276	D520E	probably damaging	Het
Pgm3	T	C	9: 86,567,533	T145A	probably benign	Het
Phox2b	G	A	5: 67,096,625		probably null	Het
Pik3r6	A	T	11: 68,526,408	R59*	probably null	Het
Pold1	A	G	7: 44,541,025		probably benign	Het
Ppp1r21	T	C	17: 88,569,072		probably benign	Het
Prl5a1	A	G	13: 28,149,987	K158E	possibly damaging	Het
Rag2	T	G	2: 101,630,603	C419W	probably damaging	Het
Reln	A	G	5: 21,988,776	S1395P	probably damaging	Het
Retnlb	T	G	16: 48,818,659	Y74*	probably null	Het
Robo3	A	G	9: 37,422,640	S633P	probably damaging	Het
Ryr1	A	G	7: 29,040,679	S3941P	probably damaging	Het
Scnn1b	A	G	7: 121,912,475	N370S	probably damaging	Het
Slc6a5	C	A	7: 49,938,408		probably benign	Het
Sort1	T	A	3: 108,344,931	N481K	probably benign	Het
Sptlc3	T	A	2: 139,596,037	I417K	possibly damaging	Het
Svil	T	A	18: 5,099,063		probably benign	Het
Taf4b	T	C	18: 14,813,077		probably benign	Het
Tchp	T	C	5: 114,709,333	M71T	possibly damaging	Het
Thsd4	T	A	9: 59,997,134	H233L	probably benign	Het
Tmem217	G	T	17: 29,526,599	N52K	possibly damaging	Het
Tmem38b	T	C	4: 53,840,765	L60S	probably damaging	Het
Uqcrfs1	A	C	13: 30,541,163	N131K	probably benign	Het
Vars	T	A	17: 35,013,869	S896R	probably benign	Het
Vmn1r170	A	T	7: 23,606,481	M103L	probably benign	Het
Vmn2r22	T	C	6: 123,637,404	Y409C	probably damaging	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Wdr49	A	T	3: 75,451,796	I8N	possibly damaging	Het
Zfp648	T	A	1: 154,204,886	Y264N	probably damaging	Het
Zmym1	A	C	4: 127,048,025	F857V	possibly damaging	Het

Other mutations in Man1a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01987:Man1a2	APN	3	100644557	missense	probably damaging	1.00
IGL02009:Man1a2	APN	3	100684662	missense	probably damaging	0.99
IGL02097:Man1a2	APN	3	100582131	missense	possibly damaging	0.68
IGL02395:Man1a2	APN	3	100644537	splice site	probably null
IGL02441:Man1a2	APN	3	100591873	missense	probably benign	0.01
R0043:Man1a2	UTSW	3	100587880	missense	probably damaging	1.00
R0064:Man1a2	UTSW	3	100591883	missense	possibly damaging	0.95
R0217:Man1a2	UTSW	3	100617037	missense	possibly damaging	0.61
R0284:Man1a2	UTSW	3	100684786	missense	probably damaging	0.98
R0633:Man1a2	UTSW	3	100684575	missense	possibly damaging	0.80
R1074:Man1a2	UTSW	3	100656086	missense	possibly damaging	0.68
R2167:Man1a2	UTSW	3	100591900	missense	probably damaging	1.00
R2177:Man1a2	UTSW	3	100632531	missense	probably damaging	1.00
R3822:Man1a2	UTSW	3	100632597	missense	possibly damaging	0.48
R4361:Man1a2	UTSW	3	100656042	missense	probably benign
R4652:Man1a2	UTSW	3	100632561	missense	probably damaging	1.00
R4871:Man1a2	UTSW	3	100617056	missense	probably damaging	1.00
R5153:Man1a2	UTSW	3	100656263	missense	probably damaging	1.00
R5182:Man1a2	UTSW	3	100647017	missense	probably damaging	0.99
R5201:Man1a2	UTSW	3	100617012	missense	probably benign
R5251:Man1a2	UTSW	3	100620099	missense	probably damaging	1.00
R6135:Man1a2	UTSW	3	100684932	start gained	probably benign
R6793:Man1a2	UTSW	3	100632597	missense	possibly damaging	0.48
R6886:Man1a2	UTSW	3	100656071	missense	probably benign	0.00
R7209:Man1a2	UTSW	3	100647079	missense	unknown
R7224:Man1a2	UTSW	3	100582053	missense	possibly damaging	0.85
R7308:Man1a2	UTSW	3	100620105	missense	probably damaging	1.00
R7815:Man1a2	UTSW	3	100656179	missense	probably damaging	0.99
R7826:Man1a2	UTSW	3	100582139	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCTATGAATCTTGGCTTTTCCCC -3'
(R):5'- AGAGGTTCTGGCTTTGGTCTTTAACAC -3'

Sequencing Primer
(F):5'- CAGGAGTGTAAGTCTAGCTCCTAC -3'
(R):5'- TGCGGCAGGCTGAAAAGTAT -3'

Posted On

2013-05-09